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
HNRNPCL1	343069	broad.mit.edu	37	1	12907854	12907854	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:12907854C>T	ENST00000317869.6	-	2	514	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GATCGTTTCACACCTGCGTTT	0.498													13	127	---	---	---	---
SDHC	6391	broad.mit.edu	37	1	161326632	161326632	+	Splice_Site	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:161326632T>C	ENST00000367975.2	+	5	554		c.e5+2		SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Splice_Site|SDHC_ENST00000392169.2_Splice_Site|SDHC_ENST00000470743.3_Splice_Site|SDHC_ENST00000342751.4_Intron	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa						respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	CGACACTTGGTAAGTTAATTC	0.458			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome				26	77	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198711451	198711451	+	Silent	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:198711451T>C	ENST00000367376.2	+	25	2817	c.2646T>C	c.(2644-2646)taT>taC	p.Y882Y	PTPRC_ENST00000352140.3_Silent_p.Y834Y|PTPRC_ENST00000442510.2_Silent_p.Y884Y|PTPRC_ENST00000594404.1_Silent_p.Y721Y|PTPRC_ENST00000348564.6_Silent_p.Y723Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	882	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTATGGTTATGTTGTCAAGC	0.438													17	91	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216256915	216256915	+	Silent	SNP	A	A	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:216256915A>T	ENST00000366943.2	-	26	5567	c.5181T>A	c.(5179-5181)ctT>ctA	p.L1727L	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Silent_p.L1727L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1727	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATATGGATGAAGTTCCAGGA	0.338										HNSCC(13;0.011)			22	113	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229568583	229568583	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr1:229568583G>A	ENST00000366684.3	-	3	276	c.174C>T	c.(172-174)gaC>gaT	p.D58D	ACTA1_ENST00000366683.2_Silent_p.D58D	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	58					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TCTGAGCCTCGTCGCCCACGT	0.592													11	65	---	---	---	---
MFSD2B	388931	broad.mit.edu	37	2	24239744	24239744	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr2:24239744T>C	ENST00000338315.4	+	4	377	c.377T>C	c.(376-378)cTg>cCg	p.L126P	MFSD2B_ENST00000406420.3_Missense_Mutation_p.L126P			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	126					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TTCATCGCCCTGGCCTACTTC	0.662													11	27	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116534830	116534830	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr2:116534830G>T	ENST00000410059.1	+	14	1748	c.1268G>T	c.(1267-1269)tGg>tTg	p.W423L	DPP10_ENST00000310323.8_Missense_Mutation_p.W416L|DPP10_ENST00000409163.1_Missense_Mutation_p.W373L|DPP10_ENST00000393147.2_Missense_Mutation_p.W427L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	423					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCAGGAAACTGGGAAGTGATA	0.383													4	24	---	---	---	---
EOMES	8320	broad.mit.edu	37	3	27760935	27760935	+	Silent	SNP	A	A	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:27760935A>T	ENST00000295743.4	-	3	1277	c.1074T>A	c.(1072-1074)acT>acA	p.T358T	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.T358T|EOMES_ENST00000537516.1_Silent_p.T63T			O95936	EOMES_HUMAN	eomesodermin	358					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGTGGGAACCAGTATTAGGAG	0.403													22	75	---	---	---	---
TRANK1	9881	broad.mit.edu	37	3	36872850	36872850	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:36872850T>A	ENST00000429976.2	-	21	8339	c.8092A>T	c.(8092-8094)Acc>Tcc	p.T2698S	TRANK1_ENST00000428977.2_Missense_Mutation_p.T2148S|TRANK1_ENST00000301807.6_Missense_Mutation_p.T2148S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2698					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCATCTGGGTGCCCACTCTT	0.572													5	18	---	---	---	---
ITIH4	3700	broad.mit.edu	37	3	52858573	52858573	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:52858573T>G	ENST00000266041.4	-	8	981	c.885A>C	c.(883-885)gaA>gaC	p.E295D	ITIH4_ENST00000485816.1_Missense_Mutation_p.E295D|ITIH4_ENST00000346281.5_Missense_Mutation_p.E295D|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Missense_Mutation_p.E207D|ITIH4_ENST00000406595.1_Missense_Mutation_p.E295D	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	295	VWFA.				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)		TGATTAGGGCTTCCCGGGTCT	0.577													8	27	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134920475	134920475	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:134920475G>T	ENST00000398015.3	+	12	2660	c.2290G>T	c.(2290-2292)Ggc>Tgc	p.G764C	EPHB1_ENST00000493838.1_Missense_Mutation_p.G325C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	764	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTCCGACTTTGGCCTCTCCCG	0.522													15	45	---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193082032	193082032	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr3:193082032G>A	ENST00000342358.4	-	2	218	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	34					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGGCAGAAGGCTTTCCGTAC	0.483													35	61	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47538814	47538814	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr4:47538814C>A	ENST00000273859.3	+	9	1524	c.1255C>A	c.(1255-1257)Cag>Aag	p.Q419K	ATP10D_ENST00000504445.1_Missense_Mutation_p.Q404K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	419					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCTATTGTTCAGTGCCGAGC	0.393													8	33	---	---	---	---
USP53	54532	broad.mit.edu	37	4	120214179	120214179	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr4:120214179G>T	ENST00000450251.1	+	15	3579	c.3035G>T	c.(3034-3036)gGt>gTt	p.G1012V	USP53_ENST00000274030.6_Missense_Mutation_p.G1012V			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	1012					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCAAACTCAGGTGCCATTGAT	0.393													33	74	---	---	---	---
NIM1K	167359	broad.mit.edu	37	5	43280301	43280301	+	Silent	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:43280301T>C	ENST00000512796.1	+	4	2280	c.781T>C	c.(781-783)Ttg>Ctg	p.L261L	NIM1_ENST00000326035.2_Silent_p.L261L			Q8IY84	NIM1_HUMAN		261	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										GGGGGTGCTTTTGTACTTCAT	0.547													3	49	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79965959	79965959	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:79965959C>T	ENST00000265081.6	+	4	703	c.623C>T	c.(622-624)aCa>aTa	p.T208I		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	208	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCATCAAATACAAGTCATGAA	0.338								Mismatch excision repair (MMR)					3	38	---	---	---	---
SNCAIP	9627	broad.mit.edu	37	5	121786541	121786541	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:121786541C>A	ENST00000261367.7	+	12	3568	c.2140C>A	c.(2140-2142)Ctg>Atg	p.L714M	SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.L667M|SNCAIP_ENST00000542191.1_Missense_Mutation_p.L225M|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.L269M|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.L607M|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.L714M|SNCAIP_ENST00000379538.3_Missense_Mutation_p.L301M			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	667					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTTAGCCAGGCTGAGACAGCT	0.512													9	20	---	---	---	---
PCDHGB6	56100	broad.mit.edu	37	5	140788913	140788913	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:140788913G>A	ENST00000520790.1	+	1	1144	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGAGAAGTCAGGTGTAA	0.433													10	19	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156915452	156915452	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:156915452G>A	ENST00000257527.4	-	21	2449	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	ADAM19_ENST00000430702.2_Missense_Mutation_p.P524S|ADAM19_ENST00000517905.1_Missense_Mutation_p.P791S|ADAM19_ENST00000394020.1_Missense_Mutation_p.P793S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	791					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGGCCGGGGAGGAGGCTGG	0.617													14	38	---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180432567	180432567	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr5:180432567A>G	ENST00000342868.6	+	8	1280	c.1096A>G	c.(1096-1098)Aag>Gag	p.K366E		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	366	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGACAGGGGGAAGAACAATGT	0.478													3	57	---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25551235	25551235	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:25551235A>G	ENST00000329474.6	+	27	2794	c.2426A>G	c.(2425-2427)gAa>gGa	p.E809G		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	809					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCAGCACCGAAAAGATTTCT	0.388													15	84	---	---	---	---
DDX39B	7919	broad.mit.edu	37	6	31499163	31499163	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:31499163G>C	ENST00000417556.2	-	9	1562	c.932C>G	c.(931-933)tCt>tGt	p.S311C	ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000458640.1_Missense_Mutation_p.S296C|DDX39B_ENST00000396172.1_Missense_Mutation_p.S296C|DDX39B_ENST00000415382.2_Missense_Mutation_p.S218C|DDX39B_ENST00000376177.2_Missense_Mutation_p.S296C			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	296	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CCGCTGCACAGACTTCACAAA	0.587													6	25	---	---	---	---
B3GALT4	8705	broad.mit.edu	37	6	33245707	33245707	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:33245707G>A	ENST00000451237.1	+	1	791	c.511G>A	c.(511-513)Gtc>Atc	p.V171I		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	171					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGCCCGATACGTCCTCAAGAC	0.587													4	68	---	---	---	---
PEX6	5190	broad.mit.edu	37	6	42936629	42936629	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:42936629C>T	ENST00000304611.8	-	6	1531	c.1462G>A	c.(1462-1464)Ggg>Agg	p.G488R	PEX6_ENST00000244546.4_Missense_Mutation_p.G488R	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	488					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AAGTGGAGCCCAAGGTGACTA	0.597													10	55	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56035506	56035506	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr6:56035506T>A	ENST00000244728.5	-	5	1364	c.967A>T	c.(967-969)Aca>Tca	p.T323S	COL21A1_ENST00000535941.1_Missense_Mutation_p.T323S|COL21A1_ENST00000370819.1_Missense_Mutation_p.T323S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	323	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGGTTGTTGTAAATAATAAG	0.343													3	13	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30491972	30491972	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:30491972G>A	ENST00000222823.4	-	6	1586	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	354	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGTGGCTGGGGGAGAAGCC	0.677													8	27	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39500237	39500237	+	Silent	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:39500237T>A	ENST00000518318.2	+	9	1536	c.1494T>A	c.(1492-1494)ctT>ctA	p.L498L	POU6F2_ENST00000559001.1_Silent_p.L443L|POU6F2_ENST00000403058.1_Silent_p.L498L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	498	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCTGTCCCTTGGCCTGACCC	0.592													4	6	---	---	---	---
TAF6	6878	broad.mit.edu	37	7	99704994	99704994	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:99704994G>T	ENST00000344095.4	-	15	2434	c.1909C>A	c.(1909-1911)Cca>Aca	p.P637T	TAF6_ENST00000437822.2_Missense_Mutation_p.P674T|TAF6_ENST00000453269.2_Missense_Mutation_p.P637T|TAF6_ENST00000452041.1_Missense_Mutation_p.P637T|TAF6_ENST00000418432.2_Missense_Mutation_p.P561T|TAF6_ENST00000472509.1_Missense_Mutation_p.P694T|AP4M1_ENST00000421755.1_Intron	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	637					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGCTGAGTGGGGACGGGGAC	0.647													24	50	---	---	---	---
LMOD2	442721	broad.mit.edu	37	7	123296111	123296111	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:123296111G>C	ENST00000458573.2	+	1	251	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	LMOD2_ENST00000456238.2_Missense_Mutation_p.E32Q	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	32	Glu-rich.|Tropomyosin-binding (By similarity).					cytoskeleton	actin binding|tropomyosin binding										GGAGCTGAAGGAGCTAGAGAG	0.537													9	6	---	---	---	---
CDK5	1020	broad.mit.edu	37	7	150754243	150754243	+	Silent	SNP	G	G	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr7:150754243G>C	ENST00000485972.1	-	2	723	c.42C>G	c.(40-42)acC>acG	p.T14T	CDK5_ENST00000297518.4_Silent_p.T14T	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	14	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CAGTTCCGTAGGTGCCTAGGG	0.567													33	69	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14846021	14846021	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:14846021C>T	ENST00000380881.4	-	9	2148	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	FREM1_ENST00000422223.2_Missense_Mutation_p.D444N|FREM1_ENST00000380880.3_Missense_Mutation_p.D444N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	444					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.D445N(1)		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)		GCACCAATGTCGTCATTGTCG	0.493													8	10	---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135073943	135073943	+	Silent	SNP	G	G	T	rs138616053	by1000genomes	TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr9:135073943G>T	ENST00000393229.3	+	3	1580	c.804G>T	c.(802-804)cgG>cgT	p.R268R	NTNG2_ENST00000393228.4_Silent_p.R268R|NTNG2_ENST00000360670.3_Silent_p.R268R|NTNG2_ENST00000372179.3_Silent_p.R268R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	268	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ATGTGCAGCGGGAGAACCTCT	0.637													15	27	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27323868	27323868	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:27323868A>C	ENST00000376087.4	-	24	3676	c.3511T>G	c.(3511-3513)Ttt>Gtt	p.F1171V	ANKRD26_ENST00000376070.3_Missense_Mutation_p.F728V|ANKRD26_ENST00000436985.2_Missense_Mutation_p.F1187V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1170						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATAGCATGAAACTGGTCTTGG	0.363													38	87	---	---	---	---
PI4K2A	55361	broad.mit.edu	37	10	99426205	99426205	+	Nonsense_Mutation	SNP	C	C	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr10:99426205C>G	ENST00000370631.3	+	7	1152	c.1095C>G	c.(1093-1095)taC>taG	p.Y365*	PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.Y335*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.Y335*	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	365	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		ATCCTTTTTACTGGGCCTGGT	0.473													16	36	---	---	---	---
OR5D13	390142	broad.mit.edu	37	11	55541529	55541529	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:55541529A>G	ENST00000361760.1	+	1	616	c.616A>G	c.(616-618)Ata>Gta	p.I206V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TATTATTGCCATATTCAATGA	0.388													24	66	---	---	---	---
PPP6R3	55291	broad.mit.edu	37	11	68359047	68359047	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:68359047A>G	ENST00000393799.2	+	18	2056	c.1789A>G	c.(1789-1791)Aat>Gat	p.N597D	PPP6R3_ENST00000393800.2_Missense_Mutation_p.N597D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N365D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N568D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N517D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N551D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N597D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.N517D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N591D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N562D			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	597					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TATTTAGGGAAATATTGCCTT	0.323													4	30	---	---	---	---
CCDC81	60494	broad.mit.edu	37	11	86131085	86131085	+	Missense_Mutation	SNP	G	G	A	rs144706705		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr11:86131085G>A	ENST00000278487.3	+	13	2091	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	CCDC81_ENST00000445632.2_Missense_Mutation_p.A603T|CCDC81_ENST00000528728.1_Missense_Mutation_p.A338T|CCDC81_ENST00000354755.1_Missense_Mutation_p.A513T			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	603										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GGAGGACAAGGCTTTTGAACG	0.507													12	29	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119583327	119583327	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr12:119583327C>T	ENST00000267260.4	+	9	1301	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	305	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGCCAGGTCTCGGGGCCAGGA	0.632													5	15	---	---	---	---
TEX29	121793	broad.mit.edu	37	13	111973280	111973280	+	Silent	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr13:111973280C>T	ENST00000283547.1	+	2	172	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	15						integral to membrane											GCGGCACCTCCTGAAGCAATT	0.627													10	71	---	---	---	---
C14orf105	55195	broad.mit.edu	37	14	57960372	57960372	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:57960372T>C	ENST00000216445.3	-	1	198	c.62A>G	c.(61-63)aAa>aGa	p.K21R	C14orf105_ENST00000526336.1_Missense_Mutation_p.K21R|C14orf105_ENST00000422976.2_Missense_Mutation_p.K21R|C14orf105_ENST00000534126.1_Missense_Mutation_p.K21R	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	21										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTCTACCTCTTTGTTTTGCAA	0.463													5	22	---	---	---	---
PPM1A	5494	broad.mit.edu	37	14	60749576	60749576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:60749576C>A	ENST00000395076.4	+	2	585	c.155C>A	c.(154-156)tCg>tAg	p.S52*	PPM1A_ENST00000529574.1_Nonsense_Mutation_p.S52*|PPM1A_ENST00000325642.3_Nonsense_Mutation_p.S125*|PPM1A_ENST00000325658.3_Nonsense_Mutation_p.S52*	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	52					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GGACTTGAATCGTGGTCATTC	0.473													13	244	---	---	---	---
SMOC1	64093	broad.mit.edu	37	14	70480116	70480116	+	Silent	SNP	G	G	A	rs147765593		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:70480116G>A	ENST00000381280.4	+	10	1207	c.954G>A	c.(952-954)ggG>ggA	p.G318G	SMOC1_ENST00000361956.3_Silent_p.G318G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	318					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTCCAGAAGGGAAGAAAATGG	0.443											OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	25	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104251154	104251154	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:104251154G>A	ENST00000202556.9	-	3	537	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	85					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCTCAGTTGGGGAGTCCTCGT	0.368													4	40	---	---	---	---
IGHA1	3493	broad.mit.edu	37	14	106174901	106174901	+	RNA	SNP	C	C	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr14:106174901C>G	ENST00000390547.2	-	0	101																											TGAGTGGCTCCTGGGGGAAGA	0.652													11	26	---	---	---	---
KNSTRN	90417	broad.mit.edu	37	15	40675138	40675138	+	Silent	SNP	T	T	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:40675138T>C	ENST00000416151.2	+	1	217	c.102T>C	c.(100-102)ttT>ttC	p.F34F	KNSTRN_ENST00000249776.8_Silent_p.F34F|KNSTRN_ENST00000448395.2_Silent_p.F34F	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		ACCGGAAGTTTCTATTTGAAA	0.597													13	46	---	---	---	---
ISLR	3671	broad.mit.edu	37	15	74467974	74467974	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:74467974G>A	ENST00000249842.3	+	2	1132	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.V259M	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	259	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCACTGTGATGTGGACGGGCA	0.642													13	45	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77907021	77907021	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:77907021A>T	ENST00000355300.6	-	2	1402	c.1228T>A	c.(1228-1230)Ttc>Atc	p.F410I	LINGO1_ENST00000561030.1_Missense_Mutation_p.F404I	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	410	LRRCT.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACATCAGGGAAGTCCTTGAAC	0.662													5	10	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85626866	85626866	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr15:85626866T>A	ENST00000310298.4	+	7	878	c.626T>A	c.(625-627)cTg>cAg	p.L209Q	PDE8A_ENST00000339708.5_Missense_Mutation_p.L209Q|PDE8A_ENST00000557957.1_Missense_Mutation_p.L137Q|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000394553.1_Missense_Mutation_p.L209Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	209					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CGATCACAACTGAAACTCAGG	0.468													5	23	---	---	---	---
MMP25	64386	broad.mit.edu	37	16	3100525	3100525	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:3100525G>T	ENST00000336577.4	+	4	876	c.639G>T	c.(637-639)gaG>gaT	p.E213D	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	213					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						ACGATGAGGAGACCTGGACTT	0.512													11	30	---	---	---	---
PARN	5073	broad.mit.edu	37	16	14540829	14540829	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:14540829T>A	ENST00000437198.2	-	23	1921	c.1780A>T	c.(1780-1782)Acc>Tcc	p.T594S	PARN_ENST00000420015.2_Missense_Mutation_p.T548S|PARN_ENST00000341484.7_Missense_Mutation_p.T533S|PARN_ENST00000539279.1_Missense_Mutation_p.T419S	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	594					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CAGGAATCGGTCTGCTCAAGC	0.488													15	42	---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57718006	57718006	+	Silent	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:57718006C>T	ENST00000333493.4	+	9	1205	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	GPR97_ENST00000327655.6_Silent_p.F138F|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.F228F	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	348					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCACTACTTCCTGCTCTGTG	0.587													14	40	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77396062	77396062	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:77396062C>A	ENST00000282849.5	-	7	1574	c.1156G>T	c.(1156-1158)Gcc>Tcc	p.A386S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	386	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTAAGATGGCATGATCATGT	0.418													3	29	---	---	---	---
CA5A	763	broad.mit.edu	37	16	87960438	87960438	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr16:87960438A>G	ENST00000309893.2	-	2	321	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	86					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GCTTCATAGGAGACCCTGAGT	0.602													11	17	---	---	---	---
NDEL1	81565	broad.mit.edu	37	17	8350176	8350176	+	Silent	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:8350176G>T	ENST00000334527.7	+	4	542	c.345G>T	c.(343-345)gtG>gtT	p.V115V	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Silent_p.V115V|NDEL1_ENST00000402554.3_Silent_p.V115V|NDEL1_ENST00000299734.7_Silent_p.V115V	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	115	Interaction with KATNB1 (By similarity).|Required for interaction with PAFAH1B1.|Self-association (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						ATAAGTATGTGAGAGAGCTGG	0.433													9	26	---	---	---	---
AOC3	8639	broad.mit.edu	37	17	41004623	41004623	+	Silent	SNP	C	C	G	rs141617446		TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:41004623C>G	ENST00000308423.2	+	1	1423	c.1263C>G	c.(1261-1263)gcC>gcG	p.A421A		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	421					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTCCCAGGCCCCCAAGACAA	0.592													7	32	---	---	---	---
PDK2	5164	broad.mit.edu	37	17	48182745	48182745	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:48182745A>C	ENST00000503176.1	+	3	432	c.271A>C	c.(271-273)Agc>Cgc	p.S91R	PDK2_ENST00000007708.3_Missense_Mutation_p.S27R	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	91					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.S91C(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GTATGTCCAGAGCCTCCTGGA	0.622									Autosomal Dominant Polycystic Kidney Disease				7	17	---	---	---	---
MRC2	9902	broad.mit.edu	37	17	60765674	60765674	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr17:60765674C>T	ENST00000303375.5	+	21	3373	c.2971C>T	c.(2971-2973)Ccc>Tcc	p.P991S	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	991	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGCCAGGAACCCCAGAGCCG	0.607													8	23	---	---	---	---
EXOSC5	56915	broad.mit.edu	37	19	41897754	41897754	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:41897754C>T	ENST00000221233.4	-	3	526	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	EXOSC5_ENST00000596905.1_Missense_Mutation_p.A88T|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	126					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACAGAGCCGGCATCGCTGACA	0.622													14	29	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51958791	51958791	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr19:51958791C>T	ENST00000321424.3	-	4	998	c.932G>A	c.(931-933)gGg>gAg	p.G311E	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G202E|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G218E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	311	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCCAGCAGCCCAGGGTTTGA	0.642													11	28	---	---	---	---
MYLK2	85366	broad.mit.edu	37	20	30418922	30418922	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:30418922A>G	ENST00000375994.2	+	9	1675	c.1402A>G	c.(1402-1404)Atg>Gtg	p.M468V	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.M468V			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	468	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CATGTGGAGTATGGGGGTGAT	0.572													23	42	---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33875275	33875275	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:33875275G>T	ENST00000374408.3	-	4	1403	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	436										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAAGGTTAAGGGGCTGGTACT	0.632													8	20	---	---	---	---
RPRD1B	58490	broad.mit.edu	37	20	36686047	36686047	+	Splice_Site	SNP	G	G	T			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr20:36686047G>T	ENST00000373433.4	+	4	930		c.e4+1			NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B											endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACCCCTCTTGGTAGGTCTTGA	0.517											OREG0025919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12	---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38494424	38494424	+	Silent	SNP	G	G	A			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr22:38494424G>A	ENST00000381669.3	-	5	486	c.342C>T	c.(340-342)ttC>ttT	p.F114F	BAIAP2L2_ENST00000332536.5_Silent_p.F114F	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	114	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					TCACTTTGATGAACTGCATGT	0.597											OREG0026556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	39	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	85769329	85769329	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chrX:85769329A>G	ENST00000373131.1	+	2	699	c.536A>G	c.(535-537)gAa>gGa	p.E179G	DACH2_ENST00000508860.1_Missense_Mutation_p.E25G|DACH2_ENST00000373125.4_Missense_Mutation_p.E192G|DACH2_ENST00000510272.1_5'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GTGTTGCAGGAAAATGCCCGC	0.458													6	2	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32911237	32911237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A8CM-01A-11D-A34U-08	TCGA-J9-A8CM-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a01318-edcd-41e8-8be5-95fbc01e1e7e	b7b750a0-fdaa-42a2-b583-989423ec1b45	g.chr13:32911237delT	ENST00000544455.1	+	11	2972	c.2745delT	c.(2743-2745)actfs	p.T915fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.T915fs	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	915	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGACTTGACTTGTGTAAACG	0.333			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			17	34	---	---	---	---
