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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
MUC6	4588	broad.mit.edu	37	11	1016989	1016991	+	In_Frame_Del	DEL	TGT	TGT	-	rs74788171		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:1016989_1016991delTGT	ENST00000421673.2	-	31	5860_5862	c.5810_5812delACA	c.(5809-5814)aacatc>atc	p.N1937del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1937	Approximate repeats.|Thr-rich.			NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (in Ref. 5; AAA35866).	maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGGGGGTGATGTTGGTGGTAGA	0.562		NA											False	1	False	11:1016989	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
THSD4	79875	broad.mit.edu	37	15	72063463	72063468	+	In_Frame_Del	DEL	ATGACT	ATGACT	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	ATGACT	ATGACT	-	-	ATGACT	ATGACT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:72063463_72063468delATGACT	ENST00000355327.3	+	17	2964_2969	c.2830_2835delATGACT	c.(2830-2835)atgactdel	p.MT944del	THSD4_ENST00000357769.4_In_Frame_Del_p.MT584del|THSD4_ENST00000261862.6_In_Frame_Del_p.MT944del			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	944	TSP type-1 6.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTCTGATGACATGACTCTAAGTAACC	0.481		NA											False	1	True	15:72063463	0
TMEM91	641649	broad.mit.edu	37	19	41888851	41888861	+	Frame_Shift_Del	DEL	GGGGACTGGGC	GGGGACTGGGC	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	GGGGACTGGGC	GGGGACTGGGC	-	-	GGGGACTGGGC	GGGGACTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:41888851_41888861delGGGGACTGGGC	ENST00000539627.1	+	3	706_716	c.385_395delGGGGACTGGGC	c.(385-396)ggggactgggcafs	p.GDWA129fs	TMEM91_ENST00000392002.2_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000447302.2_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000542945.1_Frame_Shift_Del_p.GDWA129fs|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000356385.4_Intron					transmembrane protein 91	NA										lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGACTTGGAGGGGACTGGGCATAAAAGAGA	0.531		NA											False	1	False	19:41888851	0
PSG8	0	broad.mit.edu	37	19	43268141	43268141	+	Frame_Shift_Del	DEL	G	G	-	rs77145360		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:43268141delG	ENST00000404209.4	-	2	453	c.357delC	c.(355-357)tccfs	p.S119fs	PSG8_ENST00000306511.4_Frame_Shift_Del_p.S119fs|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Frame_Shift_Del_p.S119fs	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	119	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTAAGGTGTAGGATCCTGCGT	0.438		NA											False	2	False	19:43268141	0
IGLV4-60	0	broad.mit.edu	37	22	22516884	22516884	+	RNA	DEL	C	C	-	rs34221567		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr22:22516884delC	ENST00000390284.2	+	0	172										NA											NA						CGCATGGCATCAGCAGCAGCC	0.567		NA											False	1	True	22:22516884	0
DGKK	139189	broad.mit.edu	37	X	50213545	50213556	+	RNA	DEL	GCGGCGGAGCCG	GCGGCGGAGCCG	-			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	GCGGCGGAGCCG	GCGGCGGAGCCG	-	-	GCGGCGGAGCCG	GCGGCGGAGCCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:50213545_50213556delGCGGCGGAGCCG	ENST00000376025.2	-	0	181_192							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa	NA					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGGAGAgcagcggcggagccggcggcggagc	0.693		NA											False	1	False	X:50213545	0
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:50350672_50350674delTCT	ENST00000460112.3	-	5	3574_3576	c.3120_3122delAGA	c.(3118-3123)gaagag>gag	p.1040_1041EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557		NA											False	1	False	X:50350672	0
CHD1	1105	broad.mit.edu	37	5	98192165	98192167	+	In_Frame_Del	DEL	AGG	AGG	-	rs79267787		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:98192165_98192167delAGG	ENST00000284049.3	-	35	5199_5201	c.5050_5052delCCT	c.(5050-5052)cctdel	p.P1684del		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1684					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.P1684delP(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGGAGCCATAAGGAGATCTCTGA	0.453		NA											False	1	False	5:98192165	0
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304		NA											False	1	True	5:115202418	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		K -> E (in dbSNP:rs13928).		cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552		NA											False	1	True	7:44153778	0
RGS22	26166	broad.mit.edu	37	8	100990176	100990177	+	Frame_Shift_Ins	INS	-	-	G	rs7841915	by1000genomes	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr8:100990176_100990177insG	ENST00000523287.1	-	21	3533_3534	c.2944_2945insC	c.(2944-2946)ttgfs	p.L982fs	RGS22_ENST00000523437.1_Frame_Shift_Ins_p.L1151fs|RGS22_ENST00000360863.6_Frame_Shift_Ins_p.L1163fs			Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1163					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TAGGACTGCCAATTTTTTTTTC	0.312		NA											False	0	True	8:100990176	0
SCN9A	6335	broad.mit.edu	37	2	167162315	167162315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:167162315C>T	ENST00000303354.6	-	5	926	c.586G>A	c.(586-588)Gtc>Atc	p.V196I	SCN9A_ENST00000409672.1_Missense_Mutation_p.V195I|SCN9A_ENST00000409435.1_Missense_Mutation_p.V195I|SCN9A_ENST00000375387.4_Missense_Mutation_p.V196I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V195I(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAAACAATGACGACAAAATCC	0.398		NA											False	0	False	2:167162315	0
GDPD5	81544	broad.mit.edu	37	11	75152278	75152278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:75152278G>A	ENST00000526177.1	-	10	2867	c.989C>T	c.(988-990)gCg>gTg	p.A330V	GDPD5_ENST00000376282.3_Missense_Mutation_p.A349V|GDPD5_ENST00000336898.3_Missense_Mutation_p.A468V|GDPD5_ENST00000529721.1_Missense_Mutation_p.A468V|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.A349V|GDPD5_ENST00000533805.1_Missense_Mutation_p.A223V			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	468	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.A468V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TGGGACCCCCGCACACCACAG	0.657		NA											False	0	True	11:75152278	0
NLRP8	126205	broad.mit.edu	37	19	56466562	56466562	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:56466562T>A	ENST00000291971.3	+	3	1209	c.1138T>A	c.(1138-1140)Ttg>Atg	p.L380M	NLRP8_ENST00000590542.1_Missense_Mutation_p.L380M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	380	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGACCAAGTCTTGAGTTTCGC	0.478		NA											False	0	False	19:56466562	0
GJB1	2705	broad.mit.edu	37	X	70444246	70444246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:70444246G>A	ENST00000374022.3	+	2	784	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GJB1_ENST00000361726.6_Missense_Mutation_p.R230H|GJB1_ENST00000374029.1_Missense_Mutation_p.R230H	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	230			R -> C (in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques).|R -> L (in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CCACCTTCCCGCAAGGGCTCG	0.602		NA											False	0	True	X:70444246	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971102	31971102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr21:31971102C>T	ENST00000334897.3	-	1	117	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	31						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						ATAGCCACAGCGCAGGCTTCC	0.562		NA											False	0	False	21:31971102	0
CASP8	841	broad.mit.edu	37	2	202131315	202131315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:202131315G>T	ENST00000358485.4	+	2	479	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	CASP8_ENST00000392259.2_Nonsense_Mutation_p.E36*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.E36*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.E36*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E36*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.E36*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.E36*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E36*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	36					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGGAAGCAAGAACCCATCAA	0.468		NA								HNSCC(4;0.00038)			False	0	False	2:202131315	0
ADORA3	140	broad.mit.edu	37	1	112043018	112043018	+	Missense_Mutation	SNP	C	C	T	rs139935750	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:112043018C>T	ENST00000241356.4	-	2	916	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	171					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATTCTCATGACGGAAACAAAT	0.453		NA											False	0	False	1:112043018	0
AURKA	6790	broad.mit.edu	37	20	54945655	54945655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr20:54945655C>T	ENST00000395909.4	-	10	1480	c.915G>A	c.(913-915)atG>atA	p.M305I	AURKA_ENST00000312783.6_Missense_Mutation_p.M305I|AURKA_ENST00000371356.2_Missense_Mutation_p.M305I|AURKA_ENST00000395914.1_Missense_Mutation_p.M305I|AURKA_ENST00000347343.2_Missense_Mutation_p.M305I|AURKA_ENST00000395907.1_Missense_Mutation_p.M305I|AURKA_ENST00000395915.3_Missense_Mutation_p.M305I|AURKA_ENST00000395913.3_Missense_Mutation_p.M305I|AURKA_ENST00000395911.1_Missense_Mutation_p.M305I	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	305	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TCTCATCATGCATCCGACCTT	0.498		NA											False	0	False	20:54945655	0
SDK1	221935	broad.mit.edu	37	7	4185418	4185418	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:4185418C>T	ENST00000404826.2	+	29	4432	c.4293C>T	c.(4291-4293)ggC>ggT	p.G1431G	SDK1_ENST00000389531.3_Silent_p.G1431G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1431	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGAGGTCGGCGCCACAGTGA	0.667		NA											False	0	False	7:4185418	0
DSP	1832	broad.mit.edu	37	6	7576570	7576570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:7576570C>T	ENST00000379802.3	+	19	3015	c.2674C>T	c.(2674-2676)Cgt>Tgt	p.R892C	DSP_ENST00000418664.2_Missense_Mutation_p.R892C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	892	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGGAATTATCGTGATAACTA	0.388		NA											False	0	False	6:7576570	0
PCDHGA7	0	broad.mit.edu	37	5	140764634	140764634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140764634G>A	ENST00000518325.1	+	1	2168	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1				NA										NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGTCACGCCTGCTGCAG	0.627		NA											False	0	False	5:140764634	0
GRIN2B	2904	broad.mit.edu	37	12	13717016	13717016	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:13717016G>A	ENST00000609686.1	-	13	3365	c.3156C>T	c.(3154-3156)caC>caT	p.H1052H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAAGTCGTCGTGGCCACTGT	0.572		NA											False	0	False	12:13717016	0
TNC	3371	broad.mit.edu	37	9	117849313	117849313	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:117849313T>C	ENST00000350763.4	-	3	1108	c.697A>G	c.(697-699)Aat>Gat	p.N233D	TNC_ENST00000423613.2_Missense_Mutation_p.N233D|TNC_ENST00000542877.1_Missense_Mutation_p.N233D|TNC_ENST00000345230.3_Missense_Mutation_p.N233D|TNC_ENST00000537320.1_Missense_Mutation_p.N233D|TNC_ENST00000346706.3_Missense_Mutation_p.N233D|TNC_ENST00000341037.4_Missense_Mutation_p.N233D|TNC_ENST00000340094.3_Missense_Mutation_p.N233D|TNC_ENST00000535648.1_Missense_Mutation_p.N233D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	233	EGF-like 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGACTCCATTTACGCACTTG	0.602		NA											False	0	True	9:117849313	0
NRDE2	55051	broad.mit.edu	37	14	90770393	90770393	+	Silent	SNP	G	G	A	rs147340971		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:90770393G>A	ENST00000354366.3	-	5	1123	c.891C>T	c.(889-891)gaC>gaT	p.D297D	NRDE2_ENST00000357904.3_Silent_p.D66D	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing	NA											NA						CTGGCTGTGCGTCTGGCTGCT	0.547		NA											False	0	False	14:90770393	0
FRMPD4	9758	broad.mit.edu	37	X	12735745	12735745	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:12735745C>T	ENST00000380682.1	+	16	3306	c.2800C>T	c.(2800-2802)Cgc>Tgc	p.R934C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	934					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAACCTCTCCCGCATGTTCTT	0.547		NA											False	0	True	X:12735745	0
DNAH11	8701	broad.mit.edu	37	7	21659575	21659575	+	Splice_Site	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:21659575T>A	ENST00000328843.6	+	25	4425	c.4394T>A	c.(4393-4395)gTt>gAt	p.V1465D	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Splice_Site_p.V1460D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1465	Stem (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						GATTACTAGGTTATTACTGAA	0.294		NA							Kartagener syndrome				False	0	False	7:21659575	0
PCDHB1	0	broad.mit.edu	37	5	140431928	140431928	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140431928G>A	ENST00000306549.3	+	1	950	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		291	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T291T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCAAGACGTTTCAGATTG	0.468		NA											False	0	True	5:140431928	0
ZNF486	90649	broad.mit.edu	37	19	20308264	20308264	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:20308264T>A	ENST00000335117.8	+	4	802	c.745T>A	c.(745-747)Tac>Aac	p.Y249N	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTCTTTAAGTACTTCTCTAG	0.393		NA											False	0	False	19:20308264	0
NUAK2	81788	broad.mit.edu	37	1	205273591	205273591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:205273591C>T	ENST00000367157.3	-	7	1000	c.874G>A	c.(874-876)Gcc>Acc	p.A292T		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	292	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCCAGGGTGGCCCGGCGGGTG	0.637		NA											False	0	True	1:205273591	0
PRKRA	8575	broad.mit.edu	37	2	179300952	179300952	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:179300952C>A	ENST00000325748.4	-	7	904	c.704G>T	c.(703-705)aGt>aTt	p.S235I	AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000438687.3_Missense_Mutation_p.S122I|PRKRA_ENST00000432031.2_Missense_Mutation_p.S224I|PRKRA_ENST00000487082.1_Missense_Mutation_p.S210I	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	235	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATTTGGAATACTAAGGAGGCT	0.338		NA											False	0	False	2:179300952	0
PRUNE2	158471	broad.mit.edu	37	9	79319818	79319818	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:79319818G>A	ENST00000428286.1	-	8	7495	c.6295C>T	c.(6295-6297)Ctg>Ttg	p.L2099L	PRUNE2_ENST00000376718.3_Silent_p.L2458L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2458					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGAATATGCAGCACAGCCAGC	0.493		NA									OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	9:79319818	0
SMAD4	4089	broad.mit.edu	37	18	48575132	48575132	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr18:48575132T>A	ENST00000342988.3	+	3	864	c.326T>A	c.(325-327)cTa>cAa	p.L109Q	SMAD4_ENST00000398417.2_Missense_Mutation_p.L109Q|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.L109Q|SMAD4_ENST00000452201.2_Missense_Mutation_p.L109Q	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	109	MH1.				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.?(4)		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)		AAAAATGAACTAAAACATGTT	0.393		NA											False	0	True	18:48575132	0
FAM208B	54906	broad.mit.edu	37	10	5788328	5788328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:5788328G>A	ENST00000328090.5	+	15	3569	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	982											NA						CAGGACTTACGATGGGCCTGG	0.468		NA											False	0	False	10:5788328	0
PPEF1	5475	broad.mit.edu	37	X	18797154	18797154	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:18797154G>A	ENST00000361511.4	+	10	1079	c.585G>A	c.(583-585)ccG>ccA	p.P195P	PPEF1_ENST00000543630.1_Silent_p.P195P|PPEF1_ENST00000359763.6_Silent_p.P142P|PPEF1_ENST00000349874.5_Silent_p.P195P|PPEF1_ENST00000544635.1_Silent_p.P130P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	195	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGAGGAACCCGTATGTTTTTA	0.408		NA											False	0	True	X:18797154	0
TENM3	55714	broad.mit.edu	37	4	183713474	183713474	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr4:183713474C>T	ENST00000511685.1	+	26	5772	c.5649C>T	c.(5647-5649)taC>taT	p.Y1883Y	TENM3_ENST00000406950.2_Silent_p.Y1883Y					teneurin transmembrane protein 3	NA											NA						TCTTCGAATACGATATGTGGG	0.498		NA											False	0	False	4:183713474	0
LRFN2	57497	broad.mit.edu	37	6	40399611	40399611	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:40399611G>A	ENST00000338305.6	-	2	1784	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	414						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGCTCTCCGCCCCCACTGC	0.652		NA											False	0	True	6:40399611	0
MYO10	4651	broad.mit.edu	37	5	16694499	16694499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:16694499C>T	ENST00000513610.1	-	27	4235	c.3781G>A	c.(3781-3783)Gta>Ata	p.V1261I	MYO10_ENST00000274203.9_Missense_Mutation_p.V618I|MYO10_ENST00000505695.1_Missense_Mutation_p.V600I|MYO10_ENST00000515803.1_Missense_Mutation_p.V600I|MYO10_ENST00000427430.2_Missense_Mutation_p.V618I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1261	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGCACTTCTACGGTGCCCTTG	0.537		NA											False	0	False	5:16694499	0
PADI3	51702	broad.mit.edu	37	1	17609365	17609365	+	Missense_Mutation	SNP	C	C	A	rs147308107		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:17609365C>A	ENST00000375460.3	+	16	1826	c.1786C>A	c.(1786-1788)Cac>Aac	p.H596N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	596					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTGGGGAAGCACCTGGGCAT	0.627		NA											False	0	False	1:17609365	0
HOXD13	3239	broad.mit.edu	37	2	176959381	176959381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:176959381C>T	ENST00000392539.3	+	2	955	c.955C>T	c.(955-957)Caa>Taa	p.Q319*		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	319					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ATCTGAGAGACAAGTGACCAT	0.463		NA	T	NUP98	AML*								False	0	True	2:176959381	0
PTPRU	10076	broad.mit.edu	37	1	29630479	29630479	+	Silent	SNP	G	G	A	rs145675393		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:29630479G>A	ENST00000356870.3	+	16	2699	c.2589G>A	c.(2587-2589)gcG>gcA	p.A863A	PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000460170.2_Silent_p.A863A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Silent_p.A863A|PTPRU_ENST00000373779.3_Silent_p.A863A|PTPRU_ENST00000345512.3_Silent_p.A873A	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	873	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCACCCTGCGGTGCGTGTCG	0.687		NA											False	0	False	1:29630479	0
EFTUD2	9343	broad.mit.edu	37	17	42961062	42961062	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:42961062C>G	ENST00000426333.2	-	5	678	c.381G>C	c.(379-381)gaG>gaC	p.E127D	EFTUD2_ENST00000592576.1_Missense_Mutation_p.E127D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E92D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E127D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	127						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTCTGATGAGCTCTGAGTTAT	0.438		NA											False	0	False	17:42961062	0
HEATR5A	25938	broad.mit.edu	37	14	31785103	31785103	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:31785103C>T	ENST00000543095.2	-	27	4275	c.4091G>A	c.(4090-4092)cGa>cAa	p.R1364Q	HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1358Q|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R1071Q|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1358Q	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1358							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATGAACTCTTCGGAGATCATT	0.343		NA											False	0	False	14:31785103	0
ITIH6	347365	broad.mit.edu	37	X	54784236	54784236	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:54784236C>T	ENST00000218436.6	-	8	2300	c.2271G>A	c.(2269-2271)agG>agA	p.R757R		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	757	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity				NA						GGACTTGTGTCCTGGAGTTCG	0.512		NA											False	0	False	X:54784236	0
NTRK1	4914	broad.mit.edu	37	1	156849848	156849848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:156849848C>T	ENST00000368196.3	+	15	2206	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	NTRK1_ENST00000392302.2_Missense_Mutation_p.R666C|NTRK1_ENST00000524377.1_Missense_Mutation_p.R702C|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Missense_Mutation_p.R699C	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	702	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CATCCTGTACCGTAAGTTCAC	0.637		NA	T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			False	0	False	1:156849848	0
NDUFA13	51079	broad.mit.edu	37	19	19640211	19640211	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:19640211G>A	ENST00000512771.3	+	6	474	c.464G>A	c.(463-465)aGa>aAa	p.R155K	CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000514277.4_Missense_Mutation_p.R33K|YJEFN3_ENST00000436027.5_Intron|YJEFN3_ENST00000608404.1_Intron|CTC-260F20.3_ENST00000555938.1_Intron					NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	NA										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GACATGGGAAGAGCGGAGCTT	0.632		NA											False	0	False	19:19640211	0
PTPRU	10076	broad.mit.edu	37	1	29630460	29630460	+	Missense_Mutation	SNP	C	C	T	rs146215972		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:29630460C>T	ENST00000356870.3	+	16	2680	c.2570C>T	c.(2569-2571)aCg>aTg	p.T857M	PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M|PTPRU_ENST00000373779.3_Missense_Mutation_p.T857M|PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	867	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCATACCACACGGGGCAGCTG	0.662		NA											False	0	True	1:29630460	0
CCR4	1233	broad.mit.edu	37	3	32995416	32995416	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:32995416G>A	ENST00000330953.5	+	2	670	c.502G>A	c.(502-504)Gcc>Acc	p.A168T		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	168					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GGCTGTGTTCGCCTCCCTTCC	0.502		NA											False	0	False	3:32995416	0
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522		NA											False	0	True	19:9090831	0
NLRP8	126205	broad.mit.edu	37	19	56466153	56466153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:56466153C>A	ENST00000291971.3	+	3	800	c.729C>A	c.(727-729)ttC>ttA	p.F243L	NLRP8_ENST00000590542.1_Missense_Mutation_p.F243L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	243	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTCTACTTCCATTGCCAAG	0.507		NA											False	0	False	19:56466153	0
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582		NA											False	0	True	X:112058796	0
CEL	1056	broad.mit.edu	37	9	135946986	135946986	+	Silent	SNP	G	G	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:135946986G>C	ENST00000372080.4	+	11	2122	c.2106G>C	c.(2104-2106)ggG>ggC	p.G702G	CEL_ENST00000351304.7_Silent_p.G633G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	699	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GTGACTCCGGGGCCCCCCCCG	0.826		NA											False	0	True	9:135946986	0
LRRK1	79705	broad.mit.edu	37	15	101593294	101593294	+	Splice_Site	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:101593294G>T	ENST00000284395.5	+	26	4247		c.e26+1		LRRK1_ENST00000388948.3_Splice_Site|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	NA					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTACCGGCAGGTAAGCGGGTC	0.582		NA											False	0	False	15:101593294	0
TRIM7	81786	broad.mit.edu	37	5	180622634	180622634	+	Silent	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:180622634G>T	ENST00000393315.1	-	7	1141	c.444C>A	c.(442-444)atC>atA	p.I148I	TRIM7_ENST00000361809.3_Silent_p.I148I|TRIM7_ENST00000422067.2_Silent_p.I148I|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Silent_p.I174I|TRIM7_ENST00000274773.7_Silent_p.I356I	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	356						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCAGAGAGAGGATGAGGCGCG	0.662		NA											False	0	True	5:180622634	0
WWC1	23286	broad.mit.edu	37	5	167881063	167881063	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:167881063C>T	ENST00000265293.4	+	18	3118	c.2616C>T	c.(2614-2616)acC>acT	p.T872T	WWC1_ENST00000521089.1_Silent_p.T872T|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	872	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		aTGTTTTCACCGAGAAAGCCT	0.542		NA											False	0	False	5:167881063	0
USP15	9958	broad.mit.edu	37	12	62715327	62715327	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:62715327C>T	ENST00000280377.5	+	5	616	c.558C>T	c.(556-558)aaC>aaT	p.N186N	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Silent_p.N186N|USP15_ENST00000353364.3_Silent_p.N186N|USP15_ENST00000393654.3_Silent_p.N186N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	186					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACATGAGTAACACATTTGAAC	0.333		NA											False	0	False	12:62715327	0
SPACA3	124912	broad.mit.edu	37	17	31322436	31322436	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:31322436C>T	ENST00000269053.3	+	2	114	c.44C>T	c.(43-45)tCa>tTa	p.S15L	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR|SPACA3_ENST00000394638.1_Intron	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	15					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGGGTGCACTCAAGCCCTGTT	0.607		NA											False	0	False	17:31322436	0
GAD2	2572	broad.mit.edu	37	10	26508064	26508064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:26508064G>A	ENST00000376261.3	+	4	882	c.379G>A	c.(379-381)Gat>Aat	p.D127N	GAD2_ENST00000376248.1_Missense_Mutation_p.D13N|GAD2_ENST00000259271.3_Missense_Mutation_p.D127N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	127					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAAAAGTTTCGATAGATCAAC	0.393		NA											False	0	False	10:26508064	0
FLNA	0	broad.mit.edu	37	X	153581753	153581753	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:153581753G>T	ENST00000422373.1	-	36	6157	c.5909C>A	c.(5908-5910)aCg>aAg	p.T1970K	FLNA_ENST00000344736.4_Missense_Mutation_p.T1938K|FLNA_ENST00000369856.3_Missense_Mutation_p.T111K|FLNA_ENST00000360319.4_Missense_Mutation_p.T1970K|FLNA_ENST00000369850.3_Missense_Mutation_p.T1978K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1978					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)					GCTGAGATCCGTCTCTGAGAT	0.632		NA											False	0	False	X:153581753	0
PTPN14	5784	broad.mit.edu	37	1	214556939	214556939	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:214556939G>A	ENST00000366956.5	-	13	2453	c.2259C>T	c.(2257-2259)ccC>ccT	p.P753P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	753					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)		TCCTTGGACCGGGGTACTCAG	0.672		NA											False	0	True	1:214556939	0
XYLT1	64131	broad.mit.edu	37	16	17211716	17211716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:17211716C>T	ENST00000261381.6	-	11	2428	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	782					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCCAAATGACGGTCACGGTC	0.557		NA											False	0	True	16:17211716	0
DSCAML1	57453	broad.mit.edu	37	11	117387200	117387200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:117387200C>T	ENST00000321322.6	-	8	1946	c.1945G>A	c.(1945-1947)Gtt>Att	p.V649I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V379I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	589	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTACGTGAACGCTCTGGCTG	0.632		NA											False	0	False	11:117387200	0
GPR179	440435	broad.mit.edu	37	17	36486065	36486065	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:36486065C>T	ENST00000342292.4	-	11	3407	c.3387G>A	c.(3385-3387)tcG>tcA	p.S1129S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1129						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTAGCCTGGGCGATCGGGAGG	0.627		NA											False	0	True	17:36486065	0
SYNE1	23345	broad.mit.edu	37	6	152763321	152763321	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:152763321C>T	ENST00000367255.5	-	31	4498	c.3897G>A	c.(3895-3897)gcG>gcA	p.A1299A	SYNE1_ENST00000265368.4_Silent_p.A1299A|SYNE1_ENST00000341594.5_Silent_p.A1365A|SYNE1_ENST00000367253.4_Silent_p.A1299A|SYNE1_ENST00000413186.2_Silent_p.A1299A|SYNE1_ENST00000367248.3_Silent_p.A1289A|SYNE1_ENST00000423061.1_Silent_p.A1306A|SYNE1_ENST00000448038.1_Silent_p.A1306A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.A1299A(2)|p.A1306A(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCCTGCTGCGCCTGCGCGA	0.567		NA								HNSCC(10;0.0054)			False	0	True	6:152763321	0
MICAL2	9645	broad.mit.edu	37	11	12278458	12278458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:12278458C>T	ENST00000256194.4	+	24	3370	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	MICAL2_ENST00000342902.5_Missense_Mutation_p.R1007C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R838C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R802C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R838C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1028	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGAGTGTTTCCGCTGCAGCAT	0.607		NA											False	0	False	11:12278458	0
THAP7-AS1	0	broad.mit.edu	37	22	21363434	21363434	+	RNA	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr22:21363434C>T	ENST00000452284.1	+	0	1101				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NR_027051.1					NA											NA						TCTGCCCAGACGACTGAGGTT	0.527		NA											False	0	False	22:21363434	0
ITGA3	3675	broad.mit.edu	37	17	48151552	48151552	+	Silent	SNP	C	C	T	rs78768954	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48151552C>T	ENST00000320031.8	+	9	1620	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	ITGA3_ENST00000544892.1_Silent_p.F205F|ITGA3_ENST00000007722.7_Silent_p.F430F	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	430					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGCCACCTTCGGCTATTCCC	0.612		NA											False	0	False	17:48151552	0
CACNA1G	8913	broad.mit.edu	37	17	48678109	48678109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48678109C>T	ENST00000352832.5	+	17	4016	c.3644C>T	c.(3643-3645)gCg>gTg	p.A1215V	CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1215V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1215V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A1238V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1215V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1215V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A1238V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1238V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1238					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGGTCCGCGCGTGGATCCGA	0.627		NA											False	0	True	17:48678109	0
