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
CCNB1	891	broad.mit.edu	37	5	68467126	68467126	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:68467126A>C	ENST00000256442.5	+	4	646	c.393A>C	c.(391-393)gaA>gaC	p.E131D		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCCCAATGGAAACATCTGGAT	0.423000													3	46					0	0	0.115264	0	0
MYO1F	4542	broad.mit.edu	37	19	8618065	8618065	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:8618065G>A	ENST00000338257.8	-	6	729	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	154	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGCGTTGCCGAAGGCCTCGA	0.577000													8	67					0	0	0.038147	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764068	77764068	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:77764068C>T	ENST00000521891.2	+	10	5359	c.4911C>T	c.(4909-4911)agC>agT	p.S1637S	ZFHX4_ENST00000455469.2_Silent_p.S1592S|ZFHX4_ENST00000518282.1_Silent_p.S1611S|ZFHX4_ENST00000050961.6_Silent_p.S1592S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1592						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGGGCACAGCATTGCAGCAA	0.488000										HNSCC(33;0.089)			4	45					0	0	0.150653	0	0
DGKK	139189	broad.mit.edu	37	X	50134545	50134545	+	RNA	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:50134545G>A	ENST00000376025.2	-	0	1793							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GATCATTGCCGGTTCCAAGTG	0.512000													7	45					0	0	0.029380	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143819	55143819	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr18:55143819C>T	ENST00000491143.2	+	2	1411	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	460					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ATCACCATTTCCCAGCAGCTG	0.582000													15	39					0	0	0.146539	0	0
TSGA10	80705	broad.mit.edu	37	2	99720536	99720536	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:99720536T>C	ENST00000393483.3	-	10	1349	c.505A>G	c.(505-507)Aag>Gag	p.K169E	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.K169E|TSGA10_ENST00000355053.4_Missense_Mutation_p.K169E|TSGA10_ENST00000542655.1_Missense_Mutation_p.K169E|TSGA10_ENST00000539964.1_Missense_Mutation_p.K169E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	169					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATGGTTTCCTTCATCAAAGTC	0.363000													22	55					0	0	0.083992	0	0
GPR112	139378	broad.mit.edu	37	X	135431431	135431431	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:135431431C>G	ENST00000394143.1	+	6	5857	c.5566C>G	c.(5566-5568)Ccc>Gcc	p.P1856A	GPR112_ENST00000287534.4_Missense_Mutation_p.P1793A|GPR112_ENST00000412101.1_Missense_Mutation_p.P1651A|GPR112_ENST00000394141.1_Missense_Mutation_p.P1651A|GPR112_ENST00000370652.1_Missense_Mutation_p.P1856A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1856					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)					CTCTCCTCCTCCCACATCCCA	0.448000													17	85					0	0	0.146539	0	0
ARR3	407	broad.mit.edu	37	X	69496004	69496004	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:69496004A>T	ENST00000374495.3	+	6	316	c.218A>T	c.(217-219)aAa>aTa	p.K73I	ARR3_ENST00000307959.8_Missense_Mutation_p.K73I			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	73					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACGTTCCGAAAAGATCTGTAT	0.542000													6	20					0	0	0.021553	0	0
ERG	2078	broad.mit.edu	37	21	39947591	39947591	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:39947591T>C	ENST00000442448.1	-	3	305	c.34A>G	c.(34-36)Atc>Gtc	p.I12V	ERG_ENST00000398910.1_Missense_Mutation_p.I12V|ERG_ENST00000485493.1_5'UTR|ERG_ENST00000398911.1_Missense_Mutation_p.I12V|ERG_ENST00000398919.2_Missense_Mutation_p.I12V|ERG_ENST00000417133.2_Missense_Mutation_p.I12V|ERG_ENST00000398897.1_De_novo_Start_InFrame	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	12					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTTACCTTGATATGAGCTGCT	0.507000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								3	29					0	0	0.115264	0	0
TFEC	22797	broad.mit.edu	37	7	115580975	115580975	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:115580975A>C	ENST00000265440.7	-	8	854	c.674T>G	c.(673-675)aTt>aGt	p.I225S	TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.I196S|TFEC_ENST00000457268.1_Missense_Mutation_p.I158S	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	225						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACGAGCCTGAATTTCTAGTTC	0.388000													9	61					0	0	0.058154	0	0
ACACA	31	broad.mit.edu	37	17	35600372	35600372	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:35600372G>T	ENST00000353139.5	-	22	3327	c.2846C>A	c.(2845-2847)cCc>cAc	p.P949H	ACACA_ENST00000360679.3_Missense_Mutation_p.P854H|ACACA_ENST00000335166.5_Missense_Mutation_p.P834H|ACACA_ENST00000394406.2_Missense_Mutation_p.P912H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	912					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCCACATTGGGGGGAATGCG	0.468000													20	128					1.33834e-09	1.5003e-09	0.043863	1	0
TRIM35	23087	broad.mit.edu	37	8	27146779	27146779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:27146779C>A	ENST00000305364.4	-	5	887	c.804G>T	c.(802-804)gaG>gaT	p.E268D	TRIM35_ENST00000521253.1_Missense_Mutation_p.A229S	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	268					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CTGGCTCTGGCTCCATGGTGC	0.567000													3	15					0.004672	0.00480861	0.115264	1	0
HIST1H1T	3010	broad.mit.edu	37	6	26107762	26107762	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:26107762G>A	ENST00000338379.4	-	1	602	c.560C>T	c.(559-561)gCt>gTt	p.A187V		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	187					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TGACTTCGAAGCCCTTGCCTT	0.468000													20	99					0	0	0.049695	0	0
DOCK2	1794	broad.mit.edu	37	5	169508940	169508940	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:169508940C>A	ENST00000256935.8	+	51	5462	c.5382C>A	c.(5380-5382)gaC>gaA	p.D1794E	DOCK2_ENST00000540750.1_Missense_Mutation_p.D855E|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D1286E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1794					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGATGGTGACAAGAAGACAC	0.542000													5	38					0.000602214	0.000634669	0.014758	1	0
FANCC	2176	broad.mit.edu	37	9	97897696	97897696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:97897696C>A	ENST00000289081.3	-	8	1029	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	FANCC_ENST00000375305.1_Nonsense_Mutation_p.E259*	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	259					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ATTAGCTTTTCAAAAAGATGC	0.428000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	39					0.000442599	0.000472106	0.058154	1	0
NPY4R	5540	broad.mit.edu	37	10	47087866	47087866	+	Silent	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:47087866C>A	ENST00000374312.1	+	3	1502	c.1083C>A	c.(1081-1083)gtC>gtA	p.V361V	NPY4R_ENST00000395716.1_Silent_p.V361V	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		ATACGGAAGTCTCCAAAGGGT	0.567000													21	108					0.00465635	0.00480861	0.099896	1	0
CDH16	1014	broad.mit.edu	37	16	66945163	66945163	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:66945163C>T	ENST00000299752.4	-	14	2039	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	CDH16_ENST00000394055.3_Missense_Mutation_p.E616K|CDH16_ENST00000565796.1_Missense_Mutation_p.E616K|CDH16_ENST00000570262.1_Missense_Mutation_p.E536K|CDH16_ENST00000568632.1_Missense_Mutation_p.E519K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	616	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGTGCACCTCCCCGGAGAAT	0.597000													3	18					0	0	0.115264	0	0
SEMA5A	9037	broad.mit.edu	37	5	9224908	9224908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:9224908G>C	ENST00000382496.5	-	8	1189	c.524C>G	c.(523-525)gCt>gGt	p.A175G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	175	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCCCCACCAGCTGTGAGGAG	0.572000													15	19					0	0	0.119110	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677052	37677052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:37677052C>T	ENST00000532828.2	-	5	1638	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	ZNF585B_ENST00000531805.1_Missense_Mutation_p.E408K|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.E51K	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGGGCTTTTCTCCTGTGTGA	0.368000													17	296					0	0	0.146539	0	0
GAS2	2620	broad.mit.edu	37	11	22696395	22696395	+	Splice_Site	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:22696395G>A	ENST00000454584.2	+	2	285		c.e2-1		GAS2_ENST00000433790.1_5'UTR|GAS2_ENST00000278187.3_Splice_Site|GAS2_ENST00000533092.1_Splice_Site	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2						cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTCCAAAACAGGTATTACAAG	0.418000													8	20					0	0	0.038147	0	0
IRF2	3660	broad.mit.edu	37	4	185340660	185340660	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:185340660T>C	ENST00000393593.3	-	3	357	c.150A>G	c.(148-150)aaA>aaG	p.K50K	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	50					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTGGTGCATCTTTTTCCACAT	0.398000													11	82					0	0	0.093190	0	0
MRPL16	54948	broad.mit.edu	37	11	59575303	59575303	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:59575303T>G	ENST00000300151.4	-	3	354	c.141A>C	c.(139-141)aaA>aaC	p.K47N		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	47							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						TAAGCTTGGGTTTTTCAGGAA	0.368000													11	160					0	0	0.093190	0	0
FER	2241	broad.mit.edu	37	5	108233448	108233448	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:108233448G>C	ENST00000281092.4	+	10	1519	c.1135G>C	c.(1135-1137)Gca>Cca	p.A379P	FER_ENST00000438717.2_Missense_Mutation_p.A204P|FER_ENST00000536402.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	379					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAGTTTTCAGCACAGAAGGA	0.398000													4	23					0	0	0.150653	0	0
TTN	7273	broad.mit.edu	37	2	179433970	179433970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179433970C>T	ENST00000589042.1	-	326	77113	c.76889G>A	c.(76888-76890)gGa>gAa	p.G25630E	TTN_ENST00000460472.2_Missense_Mutation_p.G16565E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16690E|TTN_ENST00000342175.6_Missense_Mutation_p.G16757E|TTN_ENST00000342992.6_Missense_Mutation_p.G23062E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23989E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23989							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTTGGATCCCCCATCCAA	0.393000													20	416					0	0	0.049695	0	0
CCDC121	79635	broad.mit.edu	37	2	27850176	27850176	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:27850176A>G	ENST00000324364.3	-	2	671	c.491T>C	c.(490-492)cTa>cCa	p.L164P	ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.L326P	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	164										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CTTTCCCAGTAGCCTCCTGTC	0.483000													24	84					0	0	0.069288	0	0
RTN1	6252	broad.mit.edu	37	14	60212930	60212930	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:60212930T>C	ENST00000267484.5	-	2	846	c.511A>G	c.(511-513)Act>Gct	p.T171A		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	171					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTGCAGGAGTCATCTCTATT	0.507000													32	36					0	0	0.153744	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600688	232600688	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:232600688T>C	ENST00000366630.1	-	8	3076	c.2718A>G	c.(2716-2718)ggA>ggG	p.G906G	SIPA1L2_ENST00000262861.4_Silent_p.G906G			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	906					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACTCACTAATCCAGATGTCC	0.428000													44	43					0	0	0.117977	0	0
PBX4	80714	broad.mit.edu	37	19	19681616	19681616	+	Missense_Mutation	SNP	C	C	T	rs147300531		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:19681616C>T	ENST00000251203.8	-	3	506	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	74							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GGGGGATCTTCGTCTTGAATG	0.537000													7	65					0	0	0.038147	0	0
BOD1L2	284257	broad.mit.edu	37	18	54815012	54815012	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr18:54815012C>T	ENST00000585477.1	+	1	720	c.469C>T	c.(469-471)Cca>Tca	p.P157S		NM_001257964.1	NP_001244893.1			biorientation of chromosomes in cell division 1-like 2																		AGCACTCCCTCCAGAGCCAGA	0.468000													6	10					0	0	0.038147	0	0
MYO15A	51168	broad.mit.edu	37	17	18052259	18052259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:18052259C>T	ENST00000205890.5	+	33	7287	c.6949C>T	c.(6949-6951)Ccc>Tcc	p.P2317S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2317	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGGGGAGGCCCCAAAGTGTA	0.642000													2	4					0	0	0.115264	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227799	112227799	+	Missense_Mutation	SNP	A	A	G	rs712665	by1000genomes	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:112227799A>G	ENST00000391338.1	+	1	487	c.463A>G	c.(463-465)Agt>Ggt	p.S155G	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						TTTAGAAAATAGTACCACATG	0.433000													3	58					0	0	0.150653	0	0
DDX41	51428	broad.mit.edu	37	5	176939861	176939861	+	Missense_Mutation	SNP	T	T	C	rs35272017		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:176939861T>C	ENST00000507955.1	-	13	1842	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	440	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGCCTTCTTCTCTGCAAAGAT	0.607000													11	68					0	0	0.069234	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120346103	120346103	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:120346103A>T	ENST00000397843.2	+	33	3330	c.3164A>T	c.(3163-3165)gAt>gTt	p.D1055V	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1036V|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D952V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1055	PH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGCAGGATGATAGACTGGTT	0.373000			T	MLL	AML								8	69					0	0	0.047766	0	0
CLASP1	23332	broad.mit.edu	37	2	122155929	122155929	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:122155929A>G	ENST00000263710.4	-	29	3337	c.2948T>C	c.(2947-2949)aTt>aCt	p.I983T	CLASP1_ENST00000455322.2_Missense_Mutation_p.I978T|CLASP1_ENST00000409078.3_Missense_Mutation_p.I955T|CLASP1_ENST00000541377.1_Missense_Mutation_p.I961T|CLASP1_ENST00000397587.3_Missense_Mutation_p.I962T|CLASP1_ENST00000541859.1_Missense_Mutation_p.I739T|CLASP1_ENST00000545861.1_Missense_Mutation_p.I729T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	983					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTGATCCACAATAAATCTCAT	0.299000													3	3					0	0	0.014758	0	0
DSCAM	1826	broad.mit.edu	37	21	41711195	41711195	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:41711195T>C	ENST00000400454.1	-	7	1835	c.1358A>G	c.(1357-1359)cAc>cGc	p.H453R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	453	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTGATGCGGTGACTGCCACC	0.607000													3	36					0	0	0.150653	0	0
FARP2	9855	broad.mit.edu	37	2	242401976	242401976	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:242401976G>A	ENST00000264042.3	+	15	1796	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	FARP2_ENST00000373287.4_Silent_p.E542E|FARP2_ENST00000545004.1_Silent_p.E542E	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	542	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TAGTCAAAGAGATTCTCGCTA	0.453000													9	50					0	0	0.093190	0	0
RICTOR	253260	broad.mit.edu	37	5	38950400	38950400	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:38950400T>G	ENST00000357387.3	-	31	3580	c.3550A>C	c.(3550-3552)Aaa>Caa	p.K1184Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1184Q	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1184					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGGTGAATTTTAAGTCATTT	0.368000													29	137					0	0	0.116897	0	0
PFKL	5211	broad.mit.edu	37	21	45730967	45730967	+	Splice_Site	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:45730967G>T	ENST00000403390.1	+	4	378		c.e4+1		PFKL_ENST00000349048.4_Splice_Site|PFKL_ENST00000496824.1_Splice_Site			P17858	K6PL_HUMAN	phosphofructokinase, liver						fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CATCCAGCTGGTGAGGCCTGG	0.572000													6	20					3.59834e-05	3.88532e-05	0.021553	1	0
EVC	2121	broad.mit.edu	37	4	5755517	5755517	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:5755517G>A	ENST00000382674.2	+	10	1505	c.1321G>A	c.(1321-1323)Gtc>Atc	p.V441I	EVC_ENST00000264956.6_Missense_Mutation_p.V441I|EVC_ENST00000509451.1_Missense_Mutation_p.V441I			P57679	EVC_HUMAN	Ellis van Creveld syndrome	441					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCCAGAGTTTGTCCAGCGAGG	0.552000													5	91					0	0	0.014758	0	0
RELN	5649	broad.mit.edu	37	7	103138354	103138354	+	Missense_Mutation	SNP	G	G	A	rs114501042	by1000genomes	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:103138354G>A	ENST00000428762.1	-	55	9022	c.8863C>T	c.(8863-8865)Cgc>Tgc	p.R2955C	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.R2955C|RELN_ENST00000424685.2_Missense_Mutation_p.R2955C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2955					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTACCGATGCGCCCCCAGTAT	0.468000													11	37					0	0	0.069234	0	0
ADCY2	108	broad.mit.edu	37	5	7695903	7695903	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:7695903C>A	ENST00000338316.4	+	6	997	c.908C>A	c.(907-909)gCa>gAa	p.A303E	ADCY2_ENST00000537121.1_Missense_Mutation_p.A123E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	303					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCCGGCTGGCAAGTGACTGC	0.428000													15	14					2.32078e-09	2.58518e-09	0.132662	1	0
PLEKHM2	23207	broad.mit.edu	37	1	16059015	16059015	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:16059015C>G	ENST00000375799.3	+	18	3023	c.2796C>G	c.(2794-2796)taC>taG	p.Y932*	PLEKHM2_ENST00000375793.2_Nonsense_Mutation_p.Y912*|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	932					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCAAGGAGTACTGCGTCTTGG	0.632000													8	8					0	0	0.038147	0	0
LCT	3938	broad.mit.edu	37	2	136566291	136566291	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:136566291T>G	ENST00000264162.2	-	8	3636	c.3626A>C	c.(3625-3627)tAc>tCc	p.Y1209S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1209	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCTGGAGTAGTACGTGTTGAG	0.577000													45	96					0	0	0.131918	0	0
NCKAP1	10787	broad.mit.edu	37	2	183866755	183866755	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183866755G>C	ENST00000360982.2	-	7	1305	c.547C>G	c.(547-549)Cgc>Ggc	p.R183G	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R177G	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	177					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGCCAAGGCGTGGGTATTCT	0.363000													6	108					0	0	0.021553	0	0
APOB	338	broad.mit.edu	37	2	21231328	21231328	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:21231328G>A	ENST00000233242.1	-	26	8539	c.8412C>T	c.(8410-8412)ctC>ctT	p.L2804L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2804					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATCAAAATTGAGAACTTCTA	0.448000													30	114					0	0	0.134883	0	0
SUV39H1	6839	broad.mit.edu	37	X	48564702	48564702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:48564702G>A	ENST00000376687.3	+	4	1065	c.875G>A	c.(874-876)cGt>cAt	p.R292H	SUV39H1_ENST00000337852.6_Missense_Mutation_p.R303H|SUV39H1_ENST00000453214.2_Missense_Mutation_p.V140I|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000482260.1_3'UTR	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	292	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	p.R292H(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATCTACGACCGTCAGGGCGCC	0.582000													4	45					0	0	0.150653	0	0
TTN	7273	broad.mit.edu	37	2	179457754	179457754	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179457754C>T	ENST00000589042.1	-	300	59316	c.59092G>A	c.(59092-59094)Gat>Aat	p.D19698N	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10633N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10758N|TTN_ENST00000342175.6_Missense_Mutation_p.D10825N|TTN_ENST00000342992.6_Missense_Mutation_p.D17130N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18057N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18057	Fibronectin type-III 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTTAGATCGACTGAATTG	0.393000													7	216					0	0	0.029380	0	0
NINL	22981	broad.mit.edu	37	20	25477346	25477346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr20:25477346C>T	ENST00000278886.6	-	10	1336	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	NINL_ENST00000422516.1_Missense_Mutation_p.M421I	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	421					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCAGTCGTCCATCTCTTTCA	0.602000													6	37					0	0	0.021553	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158851	18158851	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:18158851G>A	ENST00000396275.2	+	3	463	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	34						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGGGGCTGACGTGCATCGTTT	0.572000													16	103					0	0	0.175082	0	0
NCKAP1	10787	broad.mit.edu	37	2	183845983	183845983	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183845983C>G	ENST00000360982.2	-	14	2106	c.1348G>C	c.(1348-1350)Gaa>Caa	p.E450Q	NCKAP1_ENST00000361354.3_Missense_Mutation_p.E444Q	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	444					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGCACGAGTTCATTGAGGACA	0.383000													5	110					0	0	0.014758	0	0
DSCAM	1826	broad.mit.edu	37	21	41496129	41496129	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:41496129T>C	ENST00000400454.1	-	20	4166	c.3689A>G	c.(3688-3690)tAt>tGt	p.Y1230C		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1230	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TACTGTGGGATAGGGGTGGGA	0.552000													15	133					0	0	0.132662	0	0
ATP1B4	23439	broad.mit.edu	37	X	119509241	119509241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:119509241C>G	ENST00000218008.3	+	5	634	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	ATP1B4_ENST00000539306.1_Missense_Mutation_p.L150V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.L189V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	193					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TAATGACAGTCTTCAAGAGGA	0.488000													10	80					0	0	0.058154	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569218	129569218	+	Silent	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:129569218G>T	ENST00000422113.2	-	6	1799	c.1473C>A	c.(1471-1473)gtC>gtA	p.V491V	TMEM132D_ENST00000389441.4_Silent_p.V29V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	491						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTCCCATTGACAAAGACGT	0.542000													7	28					2.0095e-06	2.18316e-06	0.029380	1	0
SLC5A4	6527	broad.mit.edu	37	22	32650129	32650129	+	Splice_Site	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr22:32650129C>T	ENST00000266086.4	-	2	218	c.207_splice	c.e2+1	p.P69_splice	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	69					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCCACTTACCGGCCACCAGG	0.522000													29	35					0	0	0.153744	0	0
SECISBP2	79048	broad.mit.edu	37	9	91953402	91953402	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:91953402A>T	ENST00000375807.3	+	8	1190	c.1119A>T	c.(1117-1119)gaA>gaT	p.E373D	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E305D|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E300D	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	373					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						GTGACCTTGAACAAAATGAAG	0.333000													8	60					0	0	0.038147	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099704	142099704	+	RNA	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:142099704T>C	ENST00000390359.3	-	0	136																											CTGTCCTCTCTTTGCGACTTT	0.473000													9	33					0	0	0.069234	0	0
PTPRD	5789	broad.mit.edu	37	9	8507393	8507393	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:8507393C>G	ENST00000381196.4	-	19	2128	c.1585G>C	c.(1585-1587)Gaa>Caa	p.E529Q	PTPRD_ENST00000356435.5_Missense_Mutation_p.E529Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.E529Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.E519Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.E526Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.E519Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.E529Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.E516Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.E526Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.E516Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.E529Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	529	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATACTTGTTTCAGACTCAGGT	0.448000										TSP Lung(15;0.13)			7	261					0	0	0.038147	0	0
MS4A15	219995	broad.mit.edu	37	11	60543106	60543106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:60543106G>A	ENST00000405633.3	+	7	720	c.641G>A	c.(640-642)aGc>aAc	p.S214N	MS4A15_ENST00000528170.1_Missense_Mutation_p.S173N|MS4A15_ENST00000337911.4_Missense_Mutation_p.S121N	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	214						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						AACGCCTTCAGCGCAGACTTC	0.577000											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	156					0	0	0.139131	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167440	140167440	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:140167440C>T	ENST00000504120.2	+	1	1565	c.1565C>T	c.(1564-1566)cCc>cTc	p.P522L	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P522L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P522L	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCAGCCCCTGGACCAC	0.677000													39	35					0	0	0.074837	0	0
COL24A1	255631	broad.mit.edu	37	1	86361734	86361734	+	Silent	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:86361734A>G	ENST00000370571.2	-	30	3213	c.2847T>C	c.(2845-2847)gaT>gaC	p.D949D	COL24A1_ENST00000436319.1_Silent_p.D949D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	949	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTTCCTTGATCTCCTTTTT	0.318000													10	26					0	0	0.069234	0	0
POGK	57645	broad.mit.edu	37	1	166818317	166818317	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:166818317G>A	ENST00000367875.1	+	5	861	c.501G>A	c.(499-501)ggG>ggA	p.G167G	POGK_ENST00000537173.1_Silent_p.G49G|POGK_ENST00000536514.1_Silent_p.G82G|POGK_ENST00000367876.4_Silent_p.G167G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	167					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GGAGTGAGGGGTACCCCTTCT	0.577000													9	54					0	0	0.058154	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342356	16342356	+	RNA	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:16342356C>G	ENST00000481898.1	+	0	56				C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA	NR_027170.1																						GTGACCTTTTCATTCCCGTTG	0.522000													3	13					0	0	0.115264	0	0
FREM1	158326	broad.mit.edu	37	9	14842546	14842546	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:14842546G>A	ENST00000380881.4	-	10	2324	c.1509C>T	c.(1507-1509)ggC>ggT	p.G503G	FREM1_ENST00000422223.2_Silent_p.G502G|FREM1_ENST00000380880.3_Silent_p.G502G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	502					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCTGTGATGGCCATCAAATA	0.507000													10	278					0	0	0.093190	0	0
F5	2153	broad.mit.edu	37	1	169511310	169511310	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:169511310A>C	ENST00000367796.3	-	13	3234	c.3033T>G	c.(3031-3033)caT>caG	p.H1011Q	F5_ENST00000367797.3_Missense_Mutation_p.H1006Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1006	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)	GTAGAGATTTATGTCTAACTC	0.463000													17	209					0	0	0.160694	0	0
ZNF142	7701	broad.mit.edu	37	2	219507041	219507041	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:219507041G>C	ENST00000411696.2	-	7	4977	c.4198C>G	c.(4198-4200)Ctg>Gtg	p.L1400V	ZNF142_ENST00000449707.1_Missense_Mutation_p.L1400V			P52746	ZN142_HUMAN	zinc finger protein 142	1400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTGTTCCAGGTAGTGCTTT	0.612000													17	43					0	0	0.160694	0	0
PSMB4	5692	broad.mit.edu	37	1	151373789	151373789	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:151373789C>A	ENST00000290541.6	+	5	705	c.651C>A	c.(649-651)tgC>tgA	p.C217*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	217					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGAACGCTGCATGCGAGTGC	0.577000													25	146					3.08376e-08	3.39214e-08	0.083992	1	0
EYA1	2138	broad.mit.edu	37	8	72211931	72211931	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:72211931C>T	ENST00000340726.3	-	8	1220	c.581G>A	c.(580-582)gGa>gAa	p.G194E	EYA1_ENST00000419131.1_Missense_Mutation_p.G189E|EYA1_ENST00000388740.3_Missense_Mutation_p.G161E|EYA1_ENST00000388742.4_Missense_Mutation_p.G194E|EYA1_ENST00000388741.2_Missense_Mutation_p.G160E|EYA1_ENST00000303824.7_Missense_Mutation_p.G188E|EYA1_ENST00000388743.2_Missense_Mutation_p.G193E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	194					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGTATATATTCCTGATGATGT	0.303000													37	55					0	0	0.069456	0	0
ZNF383	163087	broad.mit.edu	37	19	37726884	37726884	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:37726884T>G	ENST00000589413.1	+	7	723	c.140T>G	c.(139-141)cTt>cGt	p.L47R	ZNF383_ENST00000590503.1_Missense_Mutation_p.L47R|ZNF383_ENST00000352998.3_Missense_Mutation_p.L47R			Q8NA42	ZN383_HUMAN	zinc finger protein 383	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGCAGGACTTTACACTCCT	0.483000													9	153					0	0	0.047766	0	0
PXDN	7837	broad.mit.edu	37	2	1653341	1653341	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:1653341G>A	ENST00000252804.4	-	17	2261	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	737					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.F737L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACTTCTGGTGGAAGCACATGT	0.612000													24	87					0	0	0.069288	0	0
SORCS1	114815	broad.mit.edu	37	10	108338906	108338906	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:108338906T>G	ENST00000344440.6	-	26	3474	c.3475A>C	c.(3475-3477)Act>Cct	p.T1159P	SORCS1_ENST00000369698.1_Missense_Mutation_p.T694P|SORCS1_ENST00000263054.6_Intron	NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1	NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	0						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTTAGTTCAGTCTGAGGGACA	0.498000													3	63					0	0	0.115264	0	0
ZC3H14	79882	broad.mit.edu	37	14	89060979	89060979	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:89060979G>A	ENST00000555900.1	+	0	221				ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000318308.6_De_novo_Start_OutOfFrame|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000406216.3_De_novo_Start_OutOfFrame|ZC3H14_ENST00000359301.3_Intron			Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14							cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTTTACTTTCGATGAAATAAC	0.323000													4	22					0	0	0.150653	0	0
PRCC	5546	broad.mit.edu	37	1	156756890	156756890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:156756890C>T	ENST00000271526.4	+	3	1279	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	PRCC_ENST00000353233.3_Missense_Mutation_p.P336L|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	336					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTTGGATGCCTAAGCCTGGG	0.572000			T	TFE3	papillary renal								89	181					0	0	0.139131	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933917	49933917	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:49933917G>A	ENST00000221485.3	-	12	1713	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D	SLC17A7_ENST00000543531.1_Silent_p.D502D|SLC17A7_ENST00000600601.1_Silent_p.D447D	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	514					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGCCAGCTGGTCATGGCCAA	0.627000													11	47					0	0	0.093190	0	0
LRP1B	53353	broad.mit.edu	37	2	141533735	141533735	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:141533735G>T	ENST00000389484.3	-	33	6403	c.5432C>A	c.(5431-5433)cCc>cAc	p.P1811H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1811					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGATGGTGGGGTTTCTTCC	0.408000										TSP Lung(27;0.18)			14	31					3.27435e-08	3.57942e-08	0.119110	1	0
TRRAP	8295	broad.mit.edu	37	7	98580905	98580905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:98580905G>A	ENST00000359863.4	+	59	9033	c.8824G>A	c.(8824-8826)Gaa>Aaa	p.E2942K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E2924K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E2924K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2942	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCAAATCATCGAACTCCAGGA	0.517000													6	19					0	0	0.021553	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82								p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488000													6	258					0	0	0.021553	0	0
SFI1	9814	broad.mit.edu	37	22	32011159	32011159	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr22:32011159C>G	ENST00000432498.1	+	28	3494	c.3101C>G	c.(3100-3102)tCa>tGa	p.S1034*	SFI1_ENST00000443326.1_Nonsense_Mutation_p.S983*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.S983*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.S912*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.S912*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.S1010*|SFI1_ENST00000400288.2_Nonsense_Mutation_p.S1065*|SFI1_ENST00000474741.1_3'UTR	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1065					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGGGCCCTGTCAAGCGCCCCT	0.716000													6	29					0	0	0.021553	0	0
MYH8	4626	broad.mit.edu	37	17	10296168	10296168	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:10296168T>C	ENST00000403437.2	-	37	5537	c.5443A>G	c.(5443-5445)Atc>Gtc	p.I1815V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1815					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTTTCTGGATCTGCTTCTTC	0.552000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				18	121					0	0	0.069288	0	0
PXDN	7837	broad.mit.edu	37	2	1664729	1664729	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:1664729T>C	ENST00000252804.4	-	14	1811	c.1761A>G	c.(1759-1761)gcA>gcG	p.A587A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	587	Ig-like C2-type 4.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GACCTGCGTCTGCAGGGCCAA	0.522000													10	32					0	0	0.058154	0	0
PGBD1	84547	broad.mit.edu	37	6	28268549	28268549	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:28268549G>A	ENST00000405948.2	+	7	1338	c.918G>A	c.(916-918)agG>agA	p.R306R	PGBD1_ENST00000259883.3_Silent_p.R306R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	306					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTACTGAAAGGACAGTTGCAC	0.448000													4	53					0	0	0.150653	0	0
SYNE2	23224	broad.mit.edu	37	14	64486767	64486767	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:64486767A>G	ENST00000358025.3	+	35	5337	c.5107A>G	c.(5107-5109)Ata>Gta	p.I1703V	SYNE2_ENST00000344113.4_Missense_Mutation_p.I1703V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.I1703V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1703					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTGGCTGAAATACAGTTTTT	0.299000													14	72					0	0	0.160694	0	0
PLXDC2	84898	broad.mit.edu	37	10	20335831	20335831	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:20335831A>G	ENST00000377252.3	+	3	1199	c.358A>G	c.(358-360)Ata>Gta	p.I120V	PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	120						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TATATCTCGAATATATGGTCC	0.328000													11	88					0	0	0.093190	0	0
MBTPS2	51360	broad.mit.edu	37	X	21896226	21896226	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:21896226C>A	ENST00000379484.5	+	8	1136	c.1037C>A	c.(1036-1038)tCc>tAc	p.S346Y		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	346	Cys-rich.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GTGTGCTTTTCCTACAGAAAT	0.343000													8	44					0.000157383	0.000168899	0.038147	1	0
L3HYPDH	112849	broad.mit.edu	37	14	59950999	59950999	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:59950999C>T	ENST00000247194.4	-	1	149	c.36G>A	c.(34-36)ccG>ccA	p.P12P	RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		CTGGATCATGCGGGGGCAGCC	0.701000													3	33					0	0	0.021553	0	0
TCEAL8	90843	broad.mit.edu	37	X	102508843	102508843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:102508843C>T	ENST00000372685.3	-	3	301	c.65G>A	c.(64-66)cGc>cAc	p.R22H	TCEAL8_ENST00000360000.4_Missense_Mutation_p.R22H	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|lung(1)|ovary(1)	4						CTCCAAAGGGCGATCTTCCTC	0.443000													9	139					0	0	0.058154	0	0
NRAP	4892	broad.mit.edu	37	10	115365978	115365978	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:115365978C>T	ENST00000369358.4	-	33	4034	c.3790G>A	c.(3790-3792)Gag>Aag	p.E1264K	NRAP_ENST00000359988.3_Missense_Mutation_p.E1256K|NRAP_ENST00000369360.3_Missense_Mutation_p.E1229K|NRAP_ENST00000360478.3_Missense_Mutation_p.E1221K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1256						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGGATGAACTCGGGCAGACCC	0.438000													20	29					0	0	0.091800	0	0
GRM8	2918	broad.mit.edu	37	7	126882949	126882949	+	Missense_Mutation	SNP	C	C	G	rs147289844		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:126882949C>G	ENST00000339582.2	-	2	1118	c.310G>C	c.(310-312)Gac>Cac	p.D104H	GRM8_ENST00000358373.3_Missense_Mutation_p.D104H|GRM8_ENST00000444921.2_Missense_Mutation_p.D104H|GRM8_ENST00000405249.1_Missense_Mutation_p.D104H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	104					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAGCACGTGTCGAGGATGCGG	0.478000										HNSCC(24;0.065)			11	39					0	0	0.080935	0	0
MDN1	23195	broad.mit.edu	37	6	90482425	90482425	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:90482425G>A	ENST00000369393.3	-	14	2065	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	MDN1_ENST00000428876.1_Silent_p.F650F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	650					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGTAGCAGCGAAAGTGAACT	0.498000													10	51					0	0	0.058154	0	0
B4GALNT3	283358	broad.mit.edu	37	12	653525	653525	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:653525G>A	ENST00000266383.5	+	4	385	c.372G>A	c.(370-372)ctG>ctA	p.L124L	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	124						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GTGCCAACCTGCATGTGTTTG	0.632000													9	75					0	0	0.058154	0	0
MIR891B	100126304	broad.mit.edu	37	X	145082598	145082598	+	RNA	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:145082598C>T	ENST00000401245.1	-	0	51					NR_030590.1																						caaacatgtgCCATTGAATGT	0.378000													5	33					0	0	0.014758	0	0
ANGEL2	90806	broad.mit.edu	37	1	213181634	213181634	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:213181634T>C	ENST00000366962.3	-	3	714	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	ANGEL2_ENST00000360506.2_Missense_Mutation_p.Y18C|ANGEL2_ENST00000544555.1_Missense_Mutation_p.Y18C|ANGEL2_ENST00000540642.1_Missense_Mutation_p.Y61C|ANGEL2_ENST00000535388.1_Missense_Mutation_p.Y18C	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	187										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GCAATGTCTATAAAGGTGAGA	0.353000													20	77					0	0	0.055883	0	0
FEZF1	389549	broad.mit.edu	37	7	121943895	121943895	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:121943895G>A	ENST00000442488.2	-	1	664	c.597C>T	c.(595-597)gcC>gcT	p.A199A	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.A149A|FEZF1_ENST00000331178.4_Silent_p.A199A	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	199					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TATTCCTTTCGGCTAAATACG	0.557000													4	42					0	0	0.150653	0	0
COBLL1	22837	broad.mit.edu	37	2	165557131	165557131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:165557131G>C	ENST00000375458.2	-	9	1582	c.1361C>G	c.(1360-1362)aCa>aGa	p.T454R	COBLL1_ENST00000409184.3_Missense_Mutation_p.T492R|COBLL1_ENST00000392717.2_Missense_Mutation_p.T531R|COBLL1_ENST00000342193.4_Missense_Mutation_p.T493R|COBLL1_ENST00000194871.6_Missense_Mutation_p.T559R|COBLL1_ENST00000491126.2_5'UTR	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	531										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATTTTTCAGTGTATTTATTAT	0.373000													12	87					0	0	0.119110	0	0
SLC26A9	115019	broad.mit.edu	37	1	205888028	205888028	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:205888028G>A	ENST00000367135.3	-	19	2309	c.2196C>T	c.(2194-2196)gaC>gaT	p.D732D	SLC26A9_ENST00000340781.4_Silent_p.D732D|SLC26A9_ENST00000367134.2_Silent_p.D732D	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	732	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGAGGACTGCGTCATGTATGC	0.522000											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	259					0	0	0.139131	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494312	220494312	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:220494312G>A	ENST00000358055.3	+	5	1018	c.506G>A	c.(505-507)gGa>gAa	p.G169E	SLC4A3_ENST00000373760.2_Missense_Mutation_p.G169E|SLC4A3_ENST00000497589.1_Intron|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G169E|SLC4A3_ENST00000373762.3_Missense_Mutation_p.G169E|SLC4A3_ENST00000317151.3_Missense_Mutation_p.G169E			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	169					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCCATTGGAAGTGACGAG	0.637000													13	22					0	0	0.119110	0	0
CUX1	1523	broad.mit.edu	37	7	101559503	101559503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:101559503G>T	ENST00000360264.3	+	2	192	c.172G>T	c.(172-174)Gag>Tag	p.E58*	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.E47*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.E58*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.E58*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E47*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Nonsense_Mutation_p.E58*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.E58*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	47					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACACTCCAGAGGTGAGGCG	0.532000													7	55					0.00198382	0.00206599	0.029380	1	0
PKD1L2	114780	broad.mit.edu	37	16	81142842	81142842	+	RNA	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:81142842T>C	ENST00000534142.1	-	0	1430				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCATCGTCTCCGCCGCATC	0.502000													4	9					0	0	0.021553	0	0
FBXL13	222235	broad.mit.edu	37	7	102523890	102523890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:102523890G>C	ENST00000393772.2	-	14	1676	c.1250C>G	c.(1249-1251)tCc>tGc	p.S417C	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.S417C|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.S417C|FBXL13_ENST00000313221.4_Missense_Mutation_p.S417C|FBXL13_ENST00000379308.3_Missense_Mutation_p.S417C|FBXL13_ENST00000379305.3_Missense_Mutation_p.S417C			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	417										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AAATTTGAAGGATGCATCAGT	0.343000													14	37					0	0	0.105934	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	33					0	0	0.069234	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068292	103068292	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:103068292A>G	ENST00000264260.2	+	12	2040	c.1451A>G	c.(1450-1452)aAc>aGc	p.N484S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.N342S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	484	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGAGCCCCAACTATGTCAAT	0.353000													12	86					0	0	0.119110	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415025	210415025	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:210415025G>C	ENST00000367012.3	+	4	644	c.414G>C	c.(412-414)agG>agC	p.R138S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	138	SERTA.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGATGAAAAGGATCCATGGAG	0.428000													24	149					0	0	0.069288	0	0
TP53	7157	broad.mit.edu	37	17	7577543	7577543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:7577543C>T	ENST00000420246.2	-	7	870	c.738G>A	c.(736-738)atG>atA	p.M246I	TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000359597.4_Missense_Mutation_p.M246I|TP53_ENST00000269305.4_Missense_Mutation_p.M246I|TP53_ENST00000445888.2_Missense_Mutation_p.M246I|TP53_ENST00000455263.2_Missense_Mutation_p.M246I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCTCCGGTTCATGCCGCCCA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	52					0	0	0.105934	0	0
ASIC2	40	broad.mit.edu	37	17	32483504	32483504	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:32483504G>A	ENST00000359872.6	-	1	809	c.48C>T	c.(46-48)agC>agT	p.S16S		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	16					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	AGATCTGGATGCTAGAAGGTT	0.587000													14	25					0	0	0.132662	0	0
HIST1H2AL	8332	broad.mit.edu	37	6	27833180	27833180	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:27833180G>A	ENST00000357320.2	+	1	147	c.48G>A	c.(46-48)aaG>aaA	p.K16K		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	16					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CCAAAGCCAAGACCCGCTCTT	0.637000													13	101					0	0	0.105934	0	0
MCF2	4168	broad.mit.edu	37	X	138680607	138680607	+	Silent	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:138680607G>C	ENST00000520602.1	-	20	2352	c.2067C>G	c.(2065-2067)ctC>ctG	p.L689L	MCF2_ENST00000519895.1_Silent_p.L705L|MCF2_ENST00000370573.4_Silent_p.L629L|MCF2_ENST00000370576.4_Silent_p.L629L|MCF2_ENST00000338585.6_Silent_p.L645L|MCF2_ENST00000536274.1_Silent_p.L590L|MCF2_ENST00000370578.4_Silent_p.L774L|MCF2_ENST00000414978.1_Silent_p.L689L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	629	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCACTGGTTTGAGTAAATAGG	0.299000													7	43					0	0	0.047766	0	0
POTEC	388468	broad.mit.edu	37	18	14542833	14542833	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr18:14542833A>C	ENST00000358970.5	-	1	312	c.313T>G	c.(313-315)Tgc>Ggc	p.C105G	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	105										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAGGGGAAGCAGTGACAGCAC	0.617000													11	147					0	0	0.069234	0	0
AHNAK	79026	broad.mit.edu	37	11	62298958	62298958	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:62298958G>A	ENST00000378024.4	-	5	3205	c.2931C>T	c.(2929-2931)ggC>ggT	p.G977G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	977					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACTTTTGGGCCTTTCAGGT	0.463000													24	104					0	0	0.083992	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963965	88963965	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:88963965A>C	ENST00000333190.4	+	4	2278	c.1669A>C	c.(1669-1671)Agt>Cgt	p.S557R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	557						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTGGACTACAGTGATTCTGA	0.343000										HNSCC(36;0.09)			7	48					0	0	0.029380	0	0
KIF27	55582	broad.mit.edu	37	9	86495230	86495230	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:86495230C>T	ENST00000297814.2	-	11	2768	c.2625G>A	c.(2623-2625)cgG>cgA	p.R875R	KIF27_ENST00000376347.1_Silent_p.R266R|KIF27_ENST00000334204.2_Silent_p.R875R|KIF27_ENST00000413982.1_Intron	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	875					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTTGCTGGTCCCGCTTAATTA	0.353000													4	77					0	0	0.014758	0	0
FMO1	2326	broad.mit.edu	37	1	171249964	171249964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:171249964C>T	ENST00000354841.4	+	5	798	c.667C>T	c.(667-669)Cga>Tga	p.R223*	FMO1_ENST00000402921.2_Nonsense_Mutation_p.R160*|FMO1_ENST00000367750.3_Nonsense_Mutation_p.R223*|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	223			R -> Q (in dbSNP:rs16864310).		NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTGATCAGCCGAATCTTTGA	0.517000													3	48					0	0	0.150653	0	0
GPR158	57512	broad.mit.edu	37	10	25861578	25861578	+	Splice_Site	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:25861578G>T	ENST00000376351.3	+	7	1874	c.1514_splice	c.e7-1	p.R505_splice		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	505						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTTTTCTAGGGTTTTGAAGG	0.368000													12	67					1.5842e-08	1.75358e-08	0.105934	1	0
GDF10	2662	broad.mit.edu	37	10	48428782	48428782	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:48428782C>T	ENST00000224605.2	-	2	1369	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	368					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CATCCCACTGCTTCCTCCGGG	0.572000													26	39					0	0	0.116897	0	0
CACNG5	27091	broad.mit.edu	37	17	64876725	64876725	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:64876725T>G	ENST00000533854.1	+	4	572	c.335T>G	c.(334-336)tTc>tGc	p.F112C	CACNG5_ENST00000307139.3_Missense_Mutation_p.F112C|CACNG5_ENST00000169565.3_Missense_Mutation_p.F112C			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	112					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TTCTTCATGTTCATTGGGTTT	0.512000													21	78					0	0	0.062417	0	0
CD1D	912	broad.mit.edu	37	1	158152716	158152716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:158152716G>A	ENST00000368171.3	+	5	1155	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	219	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCCCTGGCCGTCTGCTGCTG	0.592000													12	95					0	0	0.093190	0	0
C17orf66	256957	broad.mit.edu	37	17	34185484	34185484	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:34185484C>T	ENST00000311880.2	-	10	1133	c.985G>A	c.(985-987)Gtc>Atc	p.V329I	C17orf66_ENST00000592980.1_Missense_Mutation_p.V289I	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	329							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GCCTTGATGACTGGGGCTGAG	0.572000													3	24					0	0	0.115264	0	0
ALKBH8	91801	broad.mit.edu	37	11	107427562	107427562	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:107427562G>A	ENST00000428149.2	-	3	448	c.297C>T	c.(295-297)acC>acT	p.T99T	ALKBH8_ENST00000417449.2_Silent_p.T102T|ALKBH8_ENST00000429370.1_Silent_p.T99T|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Silent_p.T99T	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	99	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTCCATTGAGGGTAACATAGG	0.348000													5	33					0	0	0.014758	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													8	39					0	0	0.058154	0	0
AKT3	10000	broad.mit.edu	37	1	243809217	243809217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:243809217G>C	ENST00000366539.1	-	5	607	c.407C>G	c.(406-408)tCt>tGt	p.S136C	AKT3_ENST00000263826.5_Missense_Mutation_p.S136C|AKT3_ENST00000336199.5_Missense_Mutation_p.S136C|AKT3_ENST00000366540.1_Missense_Mutation_p.S136C			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	136					signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ATGGGTTGTAGAGGCATCCAT	0.383000													8	61					0	0	0.038147	0	0
PMFBP1	83449	broad.mit.edu	37	16	72173223	72173223	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:72173223G>A	ENST00000537465.1	-	7	1041	c.883C>T	c.(883-885)Cct>Tct	p.P295S	PMFBP1_ENST00000237353.10_Missense_Mutation_p.P295S|PMFBP1_ENST00000355636.6_Missense_Mutation_p.P150S			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	295										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGGAGCTAGGAGGGTATCTG	0.463000													4	15					0	0	0.150653	0	0
ZNF518B	85460	broad.mit.edu	37	4	10444982	10444982	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:10444982G>A	ENST00000326756.3	-	3	3409	c.2971C>T	c.(2971-2973)Cgc>Tgc	p.R991C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TAGGTCAGGCGTACATGATGC	0.383000													16	51					0	0	0.160694	0	0
ABCA17P	650655	broad.mit.edu	37	16	2436242	2436242	+	RNA	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:2436242C>T	ENST00000469908.1	+	0	1497					NR_003574.1																						GCATCGCCCTCATCGCAGGCT	0.642000													5	23					0	0	0.014758	0	0
TCTE1	202500	broad.mit.edu	37	6	44253954	44253954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:44253954G>A	ENST00000371505.4	-	3	715	c.593C>T	c.(592-594)cCg>cTg	p.P198L	TCTE1_ENST00000371504.1_Missense_Mutation_p.P45L|TCTE1_ENST00000371503.3_Missense_Mutation_p.P45L|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	198										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCACCGGCGGAAGGAACTG	0.657000													6	33					0	0	0.029380	0	0
GRM8	2918	broad.mit.edu	37	7	126883115	126883115	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:126883115C>T	ENST00000339582.2	-	2	952	c.144G>A	c.(142-144)ttG>ttA	p.L48L	GRM8_ENST00000358373.3_Silent_p.L48L|GRM8_ENST00000444921.2_Silent_p.L48L|GRM8_ENST00000405249.1_Silent_p.L48L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	48					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGAGACCCCCCAAAATAATGT	0.527000										HNSCC(24;0.065)			13	84					0	0	0.160694	0	0
ERICH1	157697	broad.mit.edu	37	8	614671	614671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:614671C>T	ENST00000262109.7	-	6	1341	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	422										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		ATTACTCTGGCATGGTCTAGA	0.348000													4	43					0	0	0.150653	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400516	90400516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:90400516G>C	ENST00000337338.5	+	3	2296	c.1889G>C	c.(1888-1890)aGc>aCc	p.S630T	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S630T	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	630						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTACTGAACAGCCTTAAGAAA	0.418000													6	65					0	0	0.021553	0	0
ZBTB39	9880	broad.mit.edu	37	12	57396829	57396829	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:57396829G>A	ENST00000300101.2	-	2	1958	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTGTGGATCCGCCGGTGGTAG	0.557000													9	70					0	0	0.047766	0	0
SYNE1	23345	broad.mit.edu	37	6	152651117	152651117	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:152651117C>T	ENST00000367255.5	-	78	15304	c.14703G>A	c.(14701-14703)agG>agA	p.R4901R	SYNE1_ENST00000448038.1_Silent_p.R4830R|SYNE1_ENST00000341594.5_Silent_p.R4648R|SYNE1_ENST00000265368.4_Silent_p.R4901R|SYNE1_ENST00000423061.1_Silent_p.R4830R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4901					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTCACTCTCCTCAGCCAGT	0.517000										HNSCC(10;0.0054)			23	59					0	0	0.062417	0	0
ITIH4	3700	broad.mit.edu	37	3	52860947	52860947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:52860947G>A	ENST00000266041.4	-	4	475	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	ITIH4_ENST00000434759.3_Nonsense_Mutation_p.Q39*|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q127*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q127*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q127*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	127	VIT.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCTGGAACTGCTCCATGTTT	0.607000													9	41					0	0	0.069234	0	0
MSLNL	401827	broad.mit.edu	37	16	830539	830539	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:830539C>T	ENST00000293892.3	-	3	461	c.462G>A	c.(460-462)ccG>ccA	p.P154P	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ACAGTGTGCACGGGTAGGTGA	0.562000													12	93					0	0	0.105934	0	0
GPR63	81491	broad.mit.edu	37	6	97246956	97246956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:97246956G>A	ENST00000229955.3	-	2	997	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	GPR63_ENST00000417980.1_Missense_Mutation_p.P218S	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	218						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGCAGGTCGGGGTTTCCTACG	0.463000													11	52					0	0	0.069234	0	0
SLC25A35	399512	broad.mit.edu	37	17	8197904	8197904	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:8197904G>A	ENST00000380067.2	-	1	266	c.222C>T	c.(220-222)ttC>ttT	p.F74F	SLC25A35_ENST00000580340.1_Silent_p.F74F|SLC25A35_ENST00000396278.1_Silent_p.F74F|SLC25A35_ENST00000579192.1_Silent_p.F74F|SLC25A35_ENST00000577745.1_Silent_p.F74F	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	74					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						CATTCATCAGGAACTGGTACA	0.627000													9	37					0	0	0.080935	0	0
TLDC1	57707	broad.mit.edu	37	16	84520288	84520288	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:84520288C>A	ENST00000343629.6	-	5	1089	c.907G>T	c.(907-909)Gtg>Ttg	p.V303L	TLDC1_ENST00000535580.1_Missense_Mutation_p.V276L	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		CCACCGAACACATGCTTGTCA	0.562000													5	42					0.014758	0.0151012	0.014758	1	0
ANKLE2	23141	broad.mit.edu	37	12	133319798	133319798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:133319798G>A	ENST00000539605.1	-	5	7793	c.1109C>T	c.(1108-1110)tCg>tTg	p.S370L	ANKLE2_ENST00000357997.5_Missense_Mutation_p.S432L|ANKLE2_ENST00000337516.5_Missense_Mutation_p.S432L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	432						cytoplasm|integral to membrane|nuclear envelope		p.S432L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATGGTGTGACGAAAGCACGTT	0.353000													6	25					0	0	0.021553	0	0
BAZ2B	29994	broad.mit.edu	37	2	160204060	160204060	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:160204060C>G	ENST00000392783.2	-	31	5886	c.5391G>C	c.(5389-5391)ttG>ttC	p.L1797F	BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1761F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1763F|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1697F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GAAGGACACTCAAATCCATTT	0.353000													3	56					0	0	0.115264	0	0
VPS33B	26276	broad.mit.edu	37	15	91557634	91557634	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr15:91557634T>C	ENST00000333371.3	-	4	622	c.269A>G	c.(268-270)aAg>aGg	p.K90R	VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000535906.1_Missense_Mutation_p.K63R	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	90					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCGCATATTCTTGATGCGGGG	0.428000													33	144					0	0	0.074837	0	0
COL11A2	1302	broad.mit.edu	37	6	33156845	33156845	+	Missense_Mutation	SNP	C	C	G	rs41268014	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:33156845C>G	ENST00000341947.2	-	3	580	c.353G>C	c.(352-354)cGa>cCa	p.R118P	COL11A2_ENST00000395194.1_Missense_Mutation_p.R118P|COL11A2_ENST00000395197.1_Missense_Mutation_p.R118P|COL11A2_ENST00000357486.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374712.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374708.4_Missense_Mutation_p.R118P|COL11A2_ENST00000374713.1_Missense_Mutation_p.R118P|COL11A2_ENST00000361917.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374714.1_Missense_Mutation_p.R118P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	118	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCGGACAGGTCGGCCCAGCTC	0.617000													4	84					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179640277	179640277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179640277G>A	ENST00000589042.1	-	28	6538	c.6314C>T	c.(6313-6315)cCa>cTa	p.P2105L	TTN_ENST00000360870.5_Missense_Mutation_p.P2105L|TTN_ENST00000460472.2_Missense_Mutation_p.P2059L|TTN_ENST00000359218.5_Missense_Mutation_p.P2059L|TTN_ENST00000342175.6_Missense_Mutation_p.P2059L|TTN_ENST00000342992.6_Missense_Mutation_p.P2105L|TTN_ENST00000591111.1_Missense_Mutation_p.P2105L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1868	Ig-like 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGGGGTCTGGTTTCCCCAC	0.478000													5	96					0	0	0.014758	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													4	61					0	0	0.021553	0	0
SLC26A8	116369	broad.mit.edu	37	6	35919038	35919038	+	Missense_Mutation	SNP	C	C	T	rs115071158	by1000genomes	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:35919038C>T	ENST00000490799.1	-	19	2727	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	SLC26A8_ENST00000355574.2_Missense_Mutation_p.V792M|SLC26A8_ENST00000394602.2_Missense_Mutation_p.V687M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	792	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.V792M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCAAACAGCACGGCGTCGTGA	0.488000													12	50					0	0	0.080935	0	0
NCOR1	9611	broad.mit.edu	37	17	15971267	15971267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:15971267C>T	ENST00000268712.3	-	32	4939	c.4682G>A	c.(4681-4683)cGg>cAg	p.R1561Q	NCOR1_ENST00000395857.3_Missense_Mutation_p.R145Q|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1577Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1561	Interaction with C1D (By similarity).|Interaction with ETO.			R -> W (in Ref. 1; AAC33550).	cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGTGGCTCCGATAAACCTC	0.512000													9	40					0	0	0.058154	0	0
SMCP	4184	broad.mit.edu	37	1	152856943	152856943	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:152856943C>T	ENST00000368765.3	+	2	195	c.45C>T	c.(43-45)ggC>ggT	p.G15G		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	15	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCAAAAGGCAATCAATGCT	0.458000													16	48					0	0	0.146539	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018149	161018149	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:161018149C>A	ENST00000368013.3	-	12	2982	c.2662G>T	c.(2662-2664)Gta>Tta	p.V888L	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.V711L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	888	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGTGGGGCTACCTCTTCCATC	0.587000													16	34					1.5739e-10	1.77568e-10	0.146539	1	0
DNAJC10	54431	broad.mit.edu	37	2	183616441	183616441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183616441G>A	ENST00000264065.6	+	15	1778	c.1363G>A	c.(1363-1365)Gtt>Att	p.V455I		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	455	Thioredoxin 2.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATTCTCATGTTACCACGCT	0.353000													20	276					0	0	0.049695	0	0
ZIC1	7545	broad.mit.edu	37	3	147128517	147128517	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:147128517G>A	ENST00000282928.4	+	1	1347	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	206					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGGCCGCGCATCACGGCG	0.652000													14	48					0	0	0.119110	0	0
SLC22A12	116085	broad.mit.edu	37	11	64361159	64361159	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:64361159T>C	ENST00000377574.1	+	4	1461	c.714T>C	c.(712-714)tcT>tcC	p.S238S	SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000336464.7_Silent_p.S204S|SLC22A12_ENST00000473690.1_Silent_p.S17S|SLC22A12_ENST00000377572.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	238					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CCTTGAACTCTCTGGGCTTCA	0.642000													10	29					0	0	0.058154	0	0
METTL3	56339	broad.mit.edu	37	14	21971333	21971333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:21971333C>T	ENST00000298717.4	-	3	857	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	236					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTCTGTTGTTCCTTAGTGGAC	0.448000													38	114					0	0	0.117977	0	0
FMNL2	114793	broad.mit.edu	37	2	153471451	153471451	+	Silent	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:153471451A>G	ENST00000288670.9	+	12	1516	c.1149A>G	c.(1147-1149)gaA>gaG	p.E383E		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	383	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTCTACTGGAAGATGCTGAAA	0.398000													13	40					0	0	0.093190	0	0
OR4N2	390429	broad.mit.edu	37	14	20295720	20295720	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:20295720T>C	ENST00000315947.1	+	1	113	c.113T>C	c.(112-114)aTc>aCc	p.I38T	OR4N2_ENST00000568211.1_Missense_Mutation_p.I38T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTCATCATCCTCCCTGGA	0.438000													20	277					0	0	0.055883	0	0
ROBO3	64221	broad.mit.edu	37	11	124744033	124744033	+	Missense_Mutation	SNP	G	G	A	rs74787566	by1000genomes	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:124744033G>A	ENST00000397801.1	+	12	2044	c.1852G>A	c.(1852-1854)Ggt>Agt	p.G618S	ROBO3_ENST00000538940.1_Missense_Mutation_p.G596S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	618	Fibronectin type-III 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CACAGTCAGCGGTCTGCAGCC	0.587000													6	73					0	0	0.029380	0	0
ITPK1	3705	broad.mit.edu	37	14	93412779	93412779	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:93412779G>A	ENST00000267615.6	-	10	971	c.798C>T	c.(796-798)tcC>tcT	p.S266S	ITPK1_ENST00000556603.2_Silent_p.S266S|ITPK1_ENST00000555495.1_Silent_p.S147S|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Silent_p.S266S			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	266	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GCAGGGCCCGGGAGAGCTCCC	0.617000													12	43					0	0	0.080935	0	0
RANBP17	64901	broad.mit.edu	37	5	170668104	170668104	+	Silent	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:170668104T>G	ENST00000523189.1	+	23	2759	c.2595T>G	c.(2593-2595)gcT>gcG	p.A865A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	865					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TACTCCAGGCTTTTGTCAAAA	0.438000			T	TRD@	ALL								32	96					0	0	0.144211	0	0
SI	6476	broad.mit.edu	37	3	164741544	164741544	+	Silent	SNP	T	T	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:164741544T>A	ENST00000264382.3	-	26	2975	c.2913A>T	c.(2911-2913)gcA>gcT	p.A971A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	971	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AACACTCAGGTGCTTTGGATA	0.363000										HNSCC(35;0.089)			18	90					0	0	0.175082	0	0
RS1	6247	broad.mit.edu	37	X	18660205	18660205	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:18660205G>A	ENST00000379984.3	-	6	634	c.594C>T	c.(592-594)ttC>ttT	p.F198F	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	198	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGAGGCGGATGAAGCGGGAGA	0.617000													11	48					0	0	0.093190	0	0
C2orf42	54980	broad.mit.edu	37	2	70408542	70408542	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:70408542T>C	ENST00000264434.2	-	3	955	c.576A>G	c.(574-576)aaA>aaG	p.K192K	C2orf42_ENST00000420306.1_Silent_p.K192K	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	192										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTGCCTTGCATTTCACCACCA	0.512000													14	102					0	0	0.132662	0	0
TNRC6A	27327	broad.mit.edu	37	16	24826581	24826581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:24826581C>T	ENST00000395799.3	+	19	4915	c.4786C>T	c.(4786-4788)Cgt>Tgt	p.R1596C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1547C|TNRC6A_ENST00000432286.2_Missense_Mutation_p.R74C|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1596					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGCTGGCCACGTGCCAAATC	0.448000													7	31					0	0	0.038147	0	0
POLE	5426	broad.mit.edu	37	12	133225538	133225538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:133225538C>A	ENST00000320574.5	-	32	4169	c.4126G>T	c.(4126-4128)Gag>Tag	p.E1376*	POLE_ENST00000535270.1_Nonsense_Mutation_p.E1349*	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1376					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCACCCTCCTCCGCTTTAGCG	0.612000								DNA polymerases (catalytic subunits)					9	49					0.0477658	0.0485941	0.047766	1	0
LRRC8A	56262	broad.mit.edu	37	9	131670584	131670584	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:131670584C>G	ENST00000259324.5	+	3	1664	c.1141C>G	c.(1141-1143)Caa>Gaa	p.Q381E	LRRC8A_ENST00000372600.4_Missense_Mutation_p.Q381E|LRRC8A_ENST00000372599.3_Missense_Mutation_p.Q381E	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	381					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCTCATTGACCAATACGACCC	0.562000													6	65					0	0	0.029380	0	0
ZNF716	441234	broad.mit.edu	37	7	57528634	57528634	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:57528634C>T	ENST00000420713.1	+	4	579	c.467C>T	c.(466-468)aCa>aTa	p.T156I		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAAACAAAACATTTCAGACT	0.323000													6	10					0	0	0.029380	0	0
ZNF638	27332	broad.mit.edu	37	2	71653593	71653596	+	Frame_Shift_Del	DEL	CCAT	CCAT	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:71653593_71653596delCCAT	ENST00000409544.1	+	24	5224_5227	c.4594_4597delCCAT	c.(4594-4599)tafs	p.PL1532fs	ZNF638_ENST00000355812.3_Frame_Shift_Del_p.SH1123fs|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.PL1532fs|ZNF638_ENST00000409407.1_Frame_Shift_Del_p.PL472fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1532					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCAACAGGAGCCATTATTTCCATT	0.353													7	52	---	---	---	---					
NICN1	84276	broad.mit.edu	37	3	49462293	49462293	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:49462293delA	ENST00000273598.3	-	6	701	c.615delT	c.(613-615)tafs	p.Y205fs	NICN1_ENST00000436744.2_Frame_Shift_Del_p.Y167fs	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	205						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTTCAGGTCATAACAGCCAT	0.507													17	15	---	---	---	---					
KIAA0226	9711	broad.mit.edu	37	3	197423824	197423845	+	Splice_Site	DEL	CCATATTCCATGTACAGAGAGC	CCATATTCCATGTACAGAGAGC	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:197423824_197423845delCCATATTCCATGTACAGAGAGC	ENST00000273582.5	-	9	1747_1768	c.1222_splice	c.e9+1	p.401_splice	KIAA0226_ENST00000296343.5_Splice_Site_p.446_splice|KIAA0226_ENST00000389665.5_Splice_Site_p.446_splice	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	446	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTAGTACTCACCATATTCCATGTACAGAGAGCTGGGTGTGCT	0.486													7	27	---	---	---	---					
AC226119.5	0	broad.mit.edu	37	4	3951121	3951122	+	RNA	INS	-	-	TGTC	rs35568143		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:3951121_3951122insTGTC	ENST00000281228.8	-	0	344				FAM86EP_ENST00000313946.8_RNA																							cgttttcACTTTGTGCAGGAAG	0.515													3	3	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs66529359	by1000genomes	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													4	8	---	---	---	---					
OR4K17	390436	broad.mit.edu	37	14	20586188	20586188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:20586188delT	ENST00000315543.4	+	1	623	c.623delT	c.(622-624)atfs	p.I208fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTAGACAGCATTTTTTGTGAC	0.448													17	150	---	---	---	---					
CASC5	57082	broad.mit.edu	37	15	40915007	40915010	+	Frame_Shift_Del	DEL	GGAA	GGAA	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr15:40915007_40915010delGGAA	ENST00000346991.5	+	11	3013_3016	c.2623_2626delGGAA	c.(2623-2628)ggfs	p.GR875fs	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Frame_Shift_Del_p.GR849fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	875	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAAAATTTGGGGAAGGAAAAGTGT	0.319													7	39	---	---	---	---					
