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
DCAF4L2	138009	broad.mit.edu	37	8	88885200	88885200	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:88885200G>C	ENST00000319675.3	-	1	1096	c.1000C>G	c.(1000-1002)Cag>Gag	p.Q334E		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	334										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TAGCAGTCCTGGCCCACGGCC	0.572000													17	35					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843233	7843233	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:7843233G>A	ENST00000329913.3	-	2	383	c.336C>T	c.(334-336)aaC>aaT	p.N112N		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	112					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCAGACAGGTTAAAGTAGA	0.478000													18	42					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17721591	17721591	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:17721591G>A	ENST00000355815.4	-	7	1425	c.1256C>T	c.(1255-1257)aCt>aTt	p.T419I	SREBF1_ENST00000338854.5_Missense_Mutation_p.T389I|SREBF1_ENST00000395757.1_Missense_Mutation_p.T135I|SREBF1_ENST00000261646.5_Missense_Mutation_p.T389I|SREBF1_ENST00000435530.2_Missense_Mutation_p.T389I	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	389	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GTGGACAGCAGTGCGCAGACT	0.547000													13	52					0	0	1	0	0
PPM1J	333926	broad.mit.edu	37	1	113252867	113252867	+	Missense_Mutation	SNP	C	C	T	rs113935705	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:113252867C>T	ENST00000464951.1	-	11	2226	c.818G>A	c.(817-819)cGt>cAt	p.R273H	PPM1J_ENST00000359994.4_Missense_Mutation_p.R273H|RP11-426L16.10_ENST00000471038.2_Intron|RP11-426L16.10_ENST00000606505.1_Intron|PPM1J_ENST00000309276.6_Missense_Mutation_p.R479H			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	479	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGGAGACGCCAGCCACG	0.622000													34	64					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49088176	49088176	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:49088176G>A	ENST00000376265.2	-	2	300	c.239C>T	c.(238-240)cCt>cTt	p.P80L	CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P80L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	80					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCGTCGCAGAGGATTGGCCAG	0.602000													13	39					0	0	1	0	0
OVCA2	124641	broad.mit.edu	37	17	1946242	1946242	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:1946242G>A	ENST00000572195.1	+	2	543	c.528G>A	c.(526-528)ggG>ggA	p.G176G	DPH1_ENST00000263083.6_3'UTR|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000570477.1_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	176					response to retinoic acid	cytoplasm	hydrolase activity										ATGTTTTTGGGGACACTGACA	0.547000											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	46					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268697	1268697	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:1268697C>T	ENST00000447027.1	+	31	10654	c.10596C>T	c.(10594-10596)acC>acT	p.T3532T	MUC5B_ENST00000529681.1_Silent_p.T3529T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3529	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACGACCACCCCGGGCCACA	0.687000													22	43					0	0	1	0	0
HMGN2P46	0	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	G	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:45848224G>T	ENST00000409454.1	+	0	1219																											TGCAGATTTTGTTTAGCTTTT	0.318000													6	13					0.00116845	0.00119049	1	1	0
MYOCD	93649	broad.mit.edu	37	17	12656007	12656007	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:12656007G>A	ENST00000425538.1	+	10	1602	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	MYOCD_ENST00000395988.1_Missense_Mutation_p.A372T|MYOCD_ENST00000343344.4_Missense_Mutation_p.A468T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	468	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.A468T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTCAGTCGCTGGGTCCCT	0.627000													23	44					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38536430	38536430	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr21:38536430T>G	ENST00000399017.2	+	32	5995	c.3248T>G	c.(3247-3249)cTc>cGc	p.L1083R	TTC3_ENST00000355666.1_Missense_Mutation_p.L1083R|TTC3_ENST00000354749.2_Missense_Mutation_p.L1083R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1083					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTCGAAGCTCTCTATGACCAA	0.398000													15	56					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041367	234041367	+	Missense_Mutation	SNP	C	C	T	rs146928346		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:234041367C>T	ENST00000366618.3	+	2	291	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGGACGAGGCGATTAAGGAG	0.647000													18	43					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405491	135405491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:135405491G>A	ENST00000394143.1	+	5	916	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.E209K|GPR112_ENST00000287534.4_Missense_Mutation_p.E146K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	209					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTTAGTTGGGAAGAAGACGT	0.438000													35	123					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105803313	105803313	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:105803313C>T	ENST00000353479.5	-	35	2751	c.2461G>A	c.(2461-2463)Ggc>Agc	p.G821S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G821S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	821	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGGCCTGGGACAGTG	0.572000													20	7					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181824	81181824	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:81181824C>T	ENST00000394685.3	+	10	1396	c.977C>T	c.(976-978)aCg>aTg	p.T326M	KIAA1199_ENST00000220244.3_Missense_Mutation_p.T326M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.T326M			Q8WUJ3	K1199_HUMAN	KIAA1199	326								p.T326M(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGGAGTGGACGGAGTGGTTC	0.483000													23	47					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090535	91090535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:91090535C>T	ENST00000373094.1	+	1	877	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	11					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACATTTTCGCGGTCCTGCTA	0.493000													4	93					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43496145	43496145	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:43496145G>A	ENST00000282041.5	-	19	3445	c.3411C>T	c.(3409-3411)ccC>ccT	p.P1137P	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1137					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCACTTCATTGGGCTGAGTGC	0.473000													9	32					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148451085	148451085	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:148451085G>A	ENST00000325222.4	+	3	437	c.158G>A	c.(157-159)tGt>tAt	p.C53Y	CUL1_ENST00000409469.1_Missense_Mutation_p.C53Y|CUL1_ENST00000602748.1_Missense_Mutation_p.C53Y	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	53					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TATAACTACTGTACTAGTGTT	0.403000													12	22					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706193	92706193	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:92706193G>A	ENST00000318445.6	+	10	2175	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R654H|SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|RP11-152L20.3_ENST00000561674.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	654					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.R654H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AACTATAAACGCTACATCAAA	0.547000													26	36					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301013	11301013	+	Missense_Mutation	SNP	G	G	A	rs139664451	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr3:11301013G>A	ENST00000397056.1	+	3	481	c.290G>A	c.(289-291)cGt>cAt	p.R97H	HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCACTGGGCCGTCCTCTCTGC	0.552000													88	103					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91954798	91954798	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr9:91954798A>G	ENST00000375807.3	+	9	1303	c.1232A>G	c.(1231-1233)aAc>aGc	p.N411S	SECISBP2_ENST00000534113.2_Missense_Mutation_p.N343S|SECISBP2_ENST00000339901.4_Missense_Mutation_p.N338S	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	411					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GAATTTCCCAACCTGGCAGTT	0.398000													12	78					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128692669	128692669	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:128692669C>A	ENST00000371113.4	+	7	664	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	OCRL_ENST00000357121.5_Missense_Mutation_p.Q167K|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	167					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATAAATTCACAAAATCAGCC	0.393000													3	71					0.004672	0.00471566	1	1	0
OR51A4	401666	broad.mit.edu	37	11	4967723	4967723	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:4967723A>G	ENST00000380373.2	-	1	633	c.608T>C	c.(607-609)tTt>tCt	p.F203S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTGCTCCAAAAAAGCCATA	0.418000													23	56					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512354	248512354	+	Missense_Mutation	SNP	C	C	T	rs145207343		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:248512354C>T	ENST00000317861.1	+	1	278	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A93E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTTCTAAGGCGGGATGTGTA	0.473000													21	29					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94486867	94486867	+	Silent	SNP	G	G	A	rs61750159		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:94486867G>A	ENST00000370225.3	-	35	5033	c.4947C>T	c.(4945-4947)ccC>ccT	p.P1649P		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1649					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATACTCCTCGGGGCTCCTGT	0.557000													47	84					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			40	140					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27411836	27411836	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:27411836C>A	ENST00000326799.3	-	12	1488	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	YME1L1_ENST00000376016.3_Missense_Mutation_p.R390I|YME1L1_ENST00000375972.3_Missense_Mutation_p.R357I	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	447					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.R447I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGATTCAATTCTCTTCCCACC	0.348000													29	22					5.77227e-19	6.23405e-19	1	1	0
PLCG1	5335	broad.mit.edu	37	20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:39802384G>A	ENST00000373272.2	+	29	3892	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_ENST00000244007.3_Missense_Mutation_p.E1163K|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.E1163K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1163	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517000											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	106					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531225	50531225	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:50531225C>T	ENST00000374144.3	+	3	923	c.635C>T	c.(634-636)cCa>cTa	p.P212L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P212L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	212										endometrium(1)	1						AGCTACCAGCCAGGCAGGAAG	0.547000													5	10					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57501513	57501513	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:57501513C>T	ENST00000300134.3	-	3	455	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	STAT6_ENST00000556155.1_Missense_Mutation_p.G44S|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000454075.3_Missense_Mutation_p.G44S|STAT6_ENST00000543873.2_Missense_Mutation_p.G44S|STAT6_ENST00000537215.2_5'UTR	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	44					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G44S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCGTCGGAGCCGACCAGGAAC	0.602000													11	29					0	0	1	0	0
USE1	55850	broad.mit.edu	37	19	17327047	17327047	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:17327047G>A	ENST00000595101.1	+	4	319	c.301G>A	c.(301-303)Gag>Aag	p.E101K	USE1_ENST00000445667.2_Missense_Mutation_p.E101K|USE1_ENST00000263897.5_Missense_Mutation_p.E101K|USE1_ENST00000379776.4_Missense_Mutation_p.E101K|USE1_ENST00000596136.1_Missense_Mutation_p.E101K			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	101					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CACAGCCAGAGAGCGAGTGCC	0.607000													16	20					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909474	101909474	+	Silent	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:101909474A>G	ENST00000537097.1	+	6	1446	c.633A>G	c.(631-633)gcA>gcG	p.A211A	GPRASP1_ENST00000444152.1_Silent_p.A211A|GPRASP1_ENST00000361600.5_Silent_p.A211A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.A211A	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	211						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTCACTGCAAAATTTCATC	0.443000													13	254					0	0	1	0	0
NBPF22P	0	broad.mit.edu	37	5	85578422	85578422	+	RNA	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr5:85578422C>T	ENST00000590707.1	+	0	145					NR_003719.2																						AGTGTTGTGACGTGTTCATCA	0.418000													3	2					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330300	51330300	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51330300G>A	ENST00000326856.4	-	4	441	c.312C>T	c.(310-312)aaC>aaT	p.N104N	KLK15_ENST00000598239.1_Silent_p.N105N|KLK15_ENST00000416184.1_Silent_p.N105N|KLK15_ENST00000596931.1_Silent_p.N104N|KLK15_ENST00000301421.2_Silent_p.N105N	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687000													36	43					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635328	118635328	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:118635328A>C	ENST00000360388.4	+	8	1341	c.1140A>C	c.(1138-1140)ttA>ttC	p.L380F		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	380					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTGTGGACTTACCGACCACAG	0.597000													30	54					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100613413	100613413	+	Silent	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:100613413C>A	ENST00000308731.7	-	12	1150	c.987G>T	c.(985-987)ggG>ggT	p.G329G	BTK_ENST00000372880.1_Silent_p.G329G	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	329	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACGTATCACCCCTTGAGGGT	0.473000									Agammaglobulinemia, X-linked				42	67					1.59361e-14	1.68735e-14	1	1	0
HACE1	57531	broad.mit.edu	37	6	105232863	105232863	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:105232863G>A	ENST00000262903.4	-	12	1682	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	HACE1_ENST00000369125.2_Missense_Mutation_p.P469L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	469					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCTTACCCCGGAGGCATCTG	0.348000													21	36					0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337223	144337223	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:144337223C>T	ENST00000370493.3	+	2	867	c.108C>T	c.(106-108)ccC>ccT	p.P36P		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	36										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTAGCCCCCGAACCGAGTT	0.403000													35	52					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37468832	37468832	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:37468832G>T	ENST00000002125.4	+	5	560	c.520G>T	c.(520-522)Gtc>Ttc	p.V174F	NDUFAF7_ENST00000336237.6_Intron|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		TAAAGAGAAGGTCCCGTTAGA	0.423000													13	25					2.62699e-14	2.75451e-14	1	1	0
CXADRP3	0	broad.mit.edu	37	18	14478282	14478282	+	RNA	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:14478282C>T	ENST00000581457.1	-	0	1626					NR_024076.1																						CTGAGGAGTGCGTTCAAAGTC	0.478000													11	31					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154065952	154065952	+	Nonsense_Mutation	SNP	G	G	A	rs137852354		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:154065952G>A	ENST00000360256.4	-	26	7176	c.6976C>T	c.(6976-6978)Cga>Tga	p.R2326*	F8_ENST00000330287.6_Nonsense_Mutation_p.R191*	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2326	F5/8 type C 2.		R -> G (in HEMA).|R -> L (in HEMA; severe/moderate; may cause reduced phospholipid binding).|R -> P (in HEMA; severe sporadic).|R -> Q (in HEMA; moderate/mild; may cause reduced phospholipid binding).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGTGAATTCGAAGGTAGCGA	0.527000													7	23					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70231260	70231260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:70231260C>A	ENST00000342771.4	+	9	1950	c.1629C>A	c.(1627-1629)ttC>ttA	p.F543L	AUTS2_ENST00000406775.2_Missense_Mutation_p.F543L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	543	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		agcacacCTTCACGCCGTTCC	0.657000													15	17					0.000422831	0.000434912	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151945288	151945288	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:151945288G>T	ENST00000355193.2	-	14	2449	c.2231C>A	c.(2230-2232)aCa>aAa	p.T744K	KMT2C_ENST00000262189.6_Missense_Mutation_p.T744K					lysine (K)-specific methyltransferase 2C																		ACCCTCAATTGTAGGAGTCAT	0.383000													5	169					1.23904e-05	1.2867e-05	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	40					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52301821	52301821	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:52301821C>T	ENST00000354831.7	-	5	1087	c.898G>A	c.(898-900)Gca>Aca	p.A300T	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.A100T|NRD1_ENST00000539524.1_Missense_Mutation_p.A168T|NRD1_ENST00000352171.7_Missense_Mutation_p.A232T	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	231					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAAAAGTGTGCCAGCCCCGGC	0.418000													3	32					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99795727	99795727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:99795727G>A	ENST00000426455.1	+	12	1589	c.1182G>A	c.(1180-1182)atG>atA	p.M394I	STAG3_ENST00000394018.2_Missense_Mutation_p.M336I|STAG3_ENST00000317296.5_Missense_Mutation_p.M394I|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	394	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTTCCATGGTCATGGACA	0.463000													22	49					0	0	1	0	0
NUDT7	283927	broad.mit.edu	37	16	77775636	77775636	+	Missense_Mutation	SNP	G	G	A	rs35294368		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:77775636G>A	ENST00000268533.5	+	4	575	c.506G>A	c.(505-507)cGt>cAt	p.R169H	NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.R116H|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	169	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CTTGGTCACCGTTTTATTAAT	0.473000													24	38					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70687521	70687521	+	Splice_Site	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:70687521G>A	ENST00000370950.3	+	2	284	c.203_splice	c.e2+1	p.D68_splice	SRSF11_ENST00000370951.1_Splice_Site_p.D68_splice|SRSF11_ENST00000454435.2_Splice_Site_p.D68_splice|SRSF11_ENST00000405432.1_Splice_Site_p.D68_splice|SRSF11_ENST00000436161.2_Splice_Site_p.D68_splice			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	68	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						CTTCCCGCCGGAGTGAGTATC	0.587000													11	40					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228890	142228890	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:142228890G>A	ENST00000519067.1	-	4	999	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLC45A4_ENST00000517878.1_Silent_p.F283F|SLC45A4_ENST00000433583.2_Silent_p.F225F|SLC45A4_ENST00000024061.3_Silent_p.F232F			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	283					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCTCGTCTGGGAAGGCAGGGA	0.677000													26	82					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55713502	55713502	+	Missense_Mutation	SNP	C	C	T	rs147691392	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:55713502C>T	ENST00000376350.3	-	6	1097	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R	PTPRH_ENST00000263434.5_Missense_Mutation_p.G181R|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	359	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TACAAACACCCGGGTTCAAGT	0.542000													45	61					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230628	75230628	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr14:75230628C>A	ENST00000325680.7	+	1	560	c.436C>A	c.(436-438)Ccc>Acc	p.P146T	YLPM1_ENST00000552421.1_Missense_Mutation_p.P146T|YLPM1_ENST00000238571.3_Missense_Mutation_p.P146T	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	146	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTGGAATCCCCCCCTGAATC	0.612000													3	10					1	1	1	1	0
EGFR	1956	broad.mit.edu	37	7	55268101	55268101	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:55268101A>T	ENST00000275493.2	+	24	3118	c.2941A>T	c.(2941-2943)Att>Ttt	p.I981F	EGFR_ENST00000454757.2_Missense_Mutation_p.I928F|EGFR_ENST00000455089.1_Missense_Mutation_p.I936F|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	981					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTACCTTGTCATTCAGGTACA	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			25	1274					0	0	1	0	0
KLRAP1	0	broad.mit.edu	37	12	10746526	10746526	+	RNA	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:10746526C>T	ENST00000510134.2	-	0	393																				breast(1)|large_intestine(1)|lung(1)	3						CTGTTTACATCCCTTCCAGTC	0.363000													12	57					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881610	18881610	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:18881610C>T	ENST00000388995.6	-	5	1592	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	FAM83G_ENST00000585154.2_Missense_Mutation_p.A457T|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A457T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	457										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGTGCTGGGCGCTGGCCTGG	0.642000													7	10					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676254	123676254	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:123676254G>C	ENST00000309154.2	-	1	841	c.804C>G	c.(802-804)gaC>gaG	p.D268E		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CGGCCACCTTGTCATAATCCA	0.488000													29	54					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70389237	70389237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:70389237C>T	ENST00000374051.3	+	7	2099	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	NLGN3_ENST00000358741.3_Nonsense_Mutation_p.R613*|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Nonsense_Mutation_p.R573*	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	613					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCAAGGGTCCGAGATCATTA	0.527000													4	9					0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38250441	38250441	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:38250441C>T	ENST00000519476.2	+	3	729	c.429C>T	c.(427-429)gaC>gaT	p.D143D	LETM2_ENST00000379957.4_Silent_p.D143D|LETM2_ENST00000523983.2_Silent_p.D96D|LETM2_ENST00000524874.1_Silent_p.D143D|LETM2_ENST00000297720.5_Silent_p.D96D			Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	143	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			TTTGGATTGACGCCAAAGTTG	0.393000													21	43					0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135112296	135112296	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:135112296G>C	ENST00000370695.4	+	13	1657	c.1622G>C	c.(1621-1623)gGt>gCt	p.G541A	SLC9A6_ENST00000370698.3_Missense_Mutation_p.G509A|SLC9A6_ENST00000370701.1_Missense_Mutation_p.G489A	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	509					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTTAGGGTTGGTGTTGATTCA	0.358000													22	69					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169512193	169512193	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:169512193C>T	ENST00000367796.3	-	13	2351	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H	F5_ENST00000367797.3_Missense_Mutation_p.R712H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	712	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGGTTCTAAACGATCATGCAT	0.403000													75	147					0	0	1	0	0
LILRA2	0	broad.mit.edu	37	19	55086781	55086781	+	Silent	SNP	G	G	A	rs144206436		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:55086781G>A	ENST00000251377.3	+	6	847	c.714G>A	c.(712-714)gaG>gaA	p.E238E	LILRA2_ENST00000391737.1_Silent_p.E226E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E238E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.E238E|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCCCGGGGAGAGCCTGACCC	0.577000													33	52					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133712	91133712	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463000													38	56					0	0	1	0	0
PACSIN1	0	broad.mit.edu	37	6	34498365	34498365	+	Splice_Site	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:34498365G>A	ENST00000538621.1	+	8	1282		c.e8+1		PACSIN1_ENST00000374043.2_Splice_Site|PACSIN1_ENST00000244458.2_Splice_Site	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1						endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACCGCGGCAGGTGAGTGCCTC	0.582000													9	10					0	0	1	0	0
SLC12A3	0	broad.mit.edu	37	16	56928468	56928468	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:56928468C>T	ENST00000438926.2	+	22	2603	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	SLC12A3_ENST00000563236.1_Silent_p.L849L|SLC12A3_ENST00000566786.1_Silent_p.L857L|SLC12A3_ENST00000262502.5_Silent_p.L848L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	849					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCCCTATCTCCTTGGCCGCA	0.557000													7	9					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719612	160719612	+	Splice_Site	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:160719612G>A	ENST00000368043.3	+	3	415	c.376_splice	c.e3-1	p.E126_splice	SLAMF7_ENST00000458602.2_Splice_Site_p.E19_splice|SLAMF7_ENST00000359331.4_Splice_Site_p.E126_splice|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458104.2_Splice_Site_p.E19_splice|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Splice_Site_p.E19_splice	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	126					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTCTCACAGAGCACCTGTCAA	0.493000													51	84					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680159	47680159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:47680159C>T	ENST00000283303.2	+	5	625	c.367C>T	c.(367-369)Cga>Tga	p.R123*	GPR115_ENST00000371220.1_Nonsense_Mutation_p.R180*|GPR115_ENST00000327753.3_Nonsense_Mutation_p.R123*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R123*(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TCTAGACTTTCGAGCTCCAGA	0.423000													50	113					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51287614	51287614	+	Silent	SNP	T	T	G	rs145775268	by1000genomes	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:51287614T>G	ENST00000395542.2	-	2	253	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000265136.7_Silent_p.P23P|COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552000													6	25					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283062	5283062	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:5283062G>A	ENST00000546004.1	-	3	1025	c.779C>T	c.(778-780)aCg>aTg	p.T260M	PROKR2_ENST00000217270.3_Missense_Mutation_p.T260M			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	260						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AATCTGCTCCGTCTGGAACCC	0.607000										HNSCC(71;0.22)			5	22					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83250986	83250986	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:83250986C>T	ENST00000566620.1	+	5	810	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	CDH13_ENST00000428848.3_Missense_Mutation_p.R135W|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.R221W	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	174	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTCCAAGTTCCGGCTCACTGG	0.463000													23	32					0	0	1	0	0
KLK1	3816	broad.mit.edu	37	19	51323240	51323240	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51323240T>G	ENST00000448701.2	-	5	1566	c.242A>C	c.(241-243)gAt>gCt	p.D81A	KLK1_ENST00000301420.2_Missense_Mutation_p.D183A			P06870	KLK1_HUMAN	kallikrein 1	183	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGCACTCATCATTAGGCAG	0.547000													12	30					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024624	76024624	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:76024624C>T	ENST00000393004.2	-	5	1145	c.924G>A	c.(922-924)tcG>tcA	p.S308S	FILIP1_ENST00000237172.7_Silent_p.S308S|FILIP1_ENST00000370020.1_Silent_p.S209S|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	308										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGAAAACCTCGAAGCCTTGT	0.418000													57	83					0	0	1	0	0
POLR2G	5436	broad.mit.edu	37	11	62530370	62530370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:62530370G>A	ENST00000301788.7	+	3	259	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	52					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						CACCACCATTGACAATATTGG	0.468000													33	63					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	114002201	114002201	+	Splice_Site	SNP	C	C	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:114002201C>A	ENST00000429538.3	-	4	386	c.191_splice	c.e4-1	p.R64_splice	PAX8_ENST00000397647.3_Splice_Site_p.R64_splice|PAX8_ENST00000348715.5_Splice_Site_p.R64_splice|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263334.5_Splice_Site_p.R64_splice|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000263335.7_Splice_Site_p.R64_splice|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	64	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TCTCGTAGTACCTACTCCAAT	0.552000			T	PPARG	follicular thyroid		Thyroid dysgenesis						29	109					2.08457e-15	2.22904e-15	1	1	0
USP34	9736	broad.mit.edu	37	2	61468710	61468710	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:61468710C>T	ENST00000398571.2	-	53	6838	c.6762G>A	c.(6760-6762)tcG>tcA	p.S2254S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2254					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTAACTCTGACGAAACATCAA	0.328000													12	26					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177201	89177201	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:89177201T>A	ENST00000561129.2	+	1	247	c.117T>A	c.(115-117)gaT>gaA	p.D39E	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.D39E			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAACGCAGATACAGGCAGAG	0.547000													20	37					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21402283	21402283	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:21402283A>T	ENST00000313654.9	+	20	2613	c.2372A>T	c.(2371-2373)tAc>tTc	p.Y791F	LAMA3_ENST00000399516.3_Missense_Mutation_p.Y791F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	791					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTCTGAGATACGTTAACCCT	0.383000													24	59					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21402284	21402284	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:21402284C>T	ENST00000313654.9	+	20	2614	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y	LAMA3_ENST00000399516.3_Silent_p.Y791Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	791					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGAGATACGTTAACCCTG	0.383000													25	59					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039030	11039030	+	RNA	SNP	G	G	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr21:11039030G>T	ENST00000470054.1	-	0	1173									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCTCAATTGTAGGAGTCAT	0.383000													36	503					2.19358e-23	2.393e-23	1	1	0
RET	5979	broad.mit.edu	37	10	43595972	43595972	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:43595972G>A	ENST00000355710.3	+	2	371	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	RET_ENST00000340058.5_Missense_Mutation_p.G47S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	47					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCAGGCAGCCGGCACGCCCTT	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				26	7					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7867929	7867929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:7867929G>A	ENST00000345088.2	+	2	350	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	78						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGATGAGTGGCTTTACAGC	0.478000													13	24					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77931439	77931439	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:77931439G>A	ENST00000361507.4	-	9	1898	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	GAB2_ENST00000340149.2_Missense_Mutation_p.P567S	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	605					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTCTTCTTAGGGGCAGGACTG	0.577000													26	37					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52651430	52651430	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr3:52651430G>A	ENST00000356770.4	-	13	1572	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	PBRM1_ENST00000296302.7_Missense_Mutation_p.P556S|PBRM1_ENST00000409114.3_Missense_Mutation_p.P571S|PBRM1_ENST00000394830.3_Missense_Mutation_p.P556S|PBRM1_ENST00000337303.4_Missense_Mutation_p.P556S|PBRM1_ENST00000409057.1_Missense_Mutation_p.P556S|PBRM1_ENST00000410007.1_Missense_Mutation_p.P556S|PBRM1_ENST00000409767.1_Missense_Mutation_p.P571S			Q86U86	PB1_HUMAN	polybromo 1	556					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAATAATCAGGATAGTCCTTT	0.363000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								22	38					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19701644	19701644	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:19701644G>A	ENST00000328041.6	+	17	1992	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	599						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTGTTCGGCGTCCACCTGAA	0.607000													4	44					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66276620	66276620	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:66276620C>T	ENST00000532677.1	+	18	2570	c.2169C>T	c.(2167-2169)ttC>ttT	p.F723F	DPP3_ENST00000530165.1_Silent_p.F674F|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000541961.1_Silent_p.F704F|DPP3_ENST00000453114.1_Silent_p.F704F|DPP3_ENST00000531863.1_Silent_p.F724F|DPP3_ENST00000360510.2_Silent_p.F704F	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	704					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGAGCGTTTCCCAGAGGATG	0.602000													21	32					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860240	113860240	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:113860240C>T	ENST00000504030.2	+	9	1637	c.1192C>T	c.(1192-1194)Ccg>Tcg	p.P398S	HTR3A_ENST00000299961.5_Missense_Mutation_p.P383S|HTR3A_ENST00000375498.2_Missense_Mutation_p.P404S|HTR3A_ENST00000535865.1_Missense_Mutation_p.P142S|HTR3A_ENST00000506841.2_Missense_Mutation_p.P430S|HTR3A_ENST00000355556.2_Missense_Mutation_p.P436S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	398					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CGAGAAGAGCCCGAGGGACAG	0.637000													38	54					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064782	63064782	+	Nonsense_Mutation	SNP	C	C	T	rs111381363		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:63064782C>T	ENST00000544661.1	+	4	477	c.49C>T	c.(49-51)Cga>Tga	p.R17*	SLC22A10_ENST00000332793.6_Nonsense_Mutation_p.R172*|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	172						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTTTGGGCGAAGATTTAT	0.398000													38	58					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32947789	32947789	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:32947789T>A	ENST00000395289.2	+	12	3732	c.2131T>A	c.(2131-2133)Tta>Ata	p.L711I	BRD2_ENST00000374831.4_Missense_Mutation_p.L676I|BRD2_ENST00000395287.1_Missense_Mutation_p.L711I|BRD2_ENST00000449085.2_Missense_Mutation_p.L629I|BRD2_ENST00000443797.2_Missense_Mutation_p.L556I|BRD2_ENST00000374825.4_Missense_Mutation_p.L676I			P25440	BRD2_HUMAN	bromodomain containing 2	676	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GGAGCCCTCTTTACGTGATTC	0.483000													14	33					0	0	1	0	0
RANGRF	29098	broad.mit.edu	37	17	8192897	8192897	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:8192897A>G	ENST00000407006.4	+	4	563	c.428A>G	c.(427-429)aAt>aGt	p.N143S	SLC25A35_ENST00000580340.1_3'UTR|RANGRF_ENST00000580434.1_Intron|SLC25A35_ENST00000579192.1_3'UTR|RANGRF_ENST00000226105.6_Missense_Mutation_p.N143S|SLC25A35_ENST00000396278.1_3'UTR|SLC25A35_ENST00000380067.2_3'UTR|RANGRF_ENST00000439238.3_3'UTR	NM_001177801.1|NM_001177802.1	NP_001171272.1|NP_001171273.1	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	143					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						CTTACCTTCAATCAGCCCCCG	0.567000													17	36					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020955	51020955	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51020955G>A	ENST00000599957.1	-	3	2212	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A672V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	672						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCTGTAGTGCGCCTTGAAGGC	0.692000													6	9					0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74751068	74751068	+	Silent	SNP	A	A	G			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:74751068A>G	ENST00000567435.1	-	2	604	c.141T>C	c.(139-141)atT>atC	p.I47I	UBL7_ENST00000395081.2_Silent_p.I47I|UBL7_ENST00000565335.1_Silent_p.I47I|UBL7_ENST00000564488.1_Silent_p.I47I|UBL7_ENST00000361351.4_Silent_p.I47I			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	47	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTTTGCCAGCAATAAGCTGCT	0.502000													8	125					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027911	37027911	+	Silent	SNP	G	G	A			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:37027911G>A	ENST00000358047.3	+	1	1480	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	476										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAGCCTCCAG	0.622000													19	37					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15580079	15580079	+	Silent	SNP	T	T	C			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:15580079T>C	ENST00000427411.1	-	19	2583	c.2367A>G	c.(2365-2367)ggA>ggG	p.G789G	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Silent_p.G789G	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	789					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GATTATTTTCTCCTTTGCTAA	0.323000													40	66					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33068913	33068913	+	Silent	SNP	C	C	T			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:33068913C>T	ENST00000374864.4	+	20	2208	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	ITCH_ENST00000262650.6_Silent_p.S706S|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.S555S	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	706	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGTACTTCTCCGTTGACAAAG	0.313000													33	68					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159032502	159032504	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:159032502_159032504delTAA	ENST00000368130.4	-	6	1298_1300	c.1010_1012delTTA	c.(1009-1014)aag>a	p.IK337del		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	337	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTGGCCTTAATAACCTGGAT	0.399													17	54	---	---	---	---					
TRAV24	0	broad.mit.edu	37	14	22573825	22573826	+	RNA	INS	-	-	A	rs33991650	by1000genomes	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr14:22573825_22573826insA	ENST00000390453.1	+	0	55																											GACTCTTTTTTAAAAAAACAGG	0.450													4	7	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66131384	66131384	+	RNA	DEL	T	T	-			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:66131384delT	ENST00000590019.1	-	0	298																											TGCCAGGTGCTTCATGGGCTC	0.587													2	4	---	---	---	---