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
PRAMEF10	343071	broad.mit.edu	37	1	12955489	12955489	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:12955489G>A	uc001auo.3	-	1	263	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	64										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGAGGGAGGCTGAGGAAG	0.587												
CASP9	842	broad.mit.edu	37	1	15844698	15844698	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:15844698C>A	uc001awn.3	-	1	570	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	CASP9_uc001awm.2_Missense_Mutation_p.V109L|CASP9_uc001awo.3_Missense_Mutation_p.V109L|CASP9_uc001awp.3_5'UTR|CASP9_uc009voi.3_Intron|CASP9_uc010obm.2_Missense_Mutation_p.V26L	NM_001229	NP_127463	P55211	CASP9_HUMAN	Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.	109					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CTGAGCACCACTGGGGTAAGG	0.517												
MST1P9	11223	broad.mit.edu	37	1	17085042	17085042	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:17085042C>T	uc010ock.2	-	10	1433	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R52Q					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CTGATCCAGCCGATCCACCCT	0.607												
MYOM3	127294	broad.mit.edu	37	1	24409117	24409117	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:24409117G>A	uc001bin.4	-	16	2221	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	MYOM3_uc001bim.4_Silent_p.A343A|MYOM3_uc001bio.3_Silent_p.A686A|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	686	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTCGGTGGCGGCTGAGCTCT	0.622												
C8B	732	broad.mit.edu	37	1	57425758	57425758	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:57425758G>A	uc001cyp.3	-	1	251	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Missense_Mutation_p.P10S	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	62					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CAATCAATGGGCATCAGGGTA	0.498												
DEPDC1	55635	broad.mit.edu	37	1	68948414	68948414	+	Silent	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:68948414T>C	uc001dem.4	-	7	1194	c.1077A>G	c.(1075-1077)tcA>tcG	p.S359S	DEPDC1_uc001dej.4_5'Flank|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	359					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.T358T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CAGTAGAATCTGATTCTTCTT	0.343												
MAGI3	260425	broad.mit.edu	37	1	114225544	114225544	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:114225544G>A	uc001edk.3	+	20	3535	c.3354G>A	c.(3352-3354)tcG>tcA	p.S1118S	MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1143	PDZ 6.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.S1118S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAATCCTTCGTCTTCAAATG	0.318												
AQP10	89872	broad.mit.edu	37	1	154296100	154296100	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:154296100G>C	uc001feu.3	+	4	565	c.525G>C	c.(523-525)ttG>ttC	p.L175F	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	175					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGGCTCTTGGCCATCCTGG	0.607												
MPZL1	9019	broad.mit.edu	37	1	167734984	167734984	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:167734984T>G	uc001geo.3	+	1	458	c.256T>G	c.(256-258)Tcg>Gcg	p.S86A	MPZL1_uc001gen.4_Missense_Mutation_p.S86A|MPZL1_uc001gep.3_Missense_Mutation_p.S86A|MPZL1_uc001geq.3_Missense_Mutation_p.S86A|MPZL1_uc009wvh.3_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	86	Ig-like V-type.				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CACTACTGTGTCGGTAAGAAT	0.483												
JMJD4	65094	broad.mit.edu	37	1	227922480	227922480	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:227922480C>A	uc001hrb.3	-	1	438	c.438G>T	c.(436-438)caG>caT	p.Q146H	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.3_Missense_Mutation_p.Q146H	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.	146										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				AGTTGTATTCCTGGACCCCAC	0.552												
ITGA8	8516	broad.mit.edu	37	10	15701007	15701007	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:15701007C>T	uc001ioc.1	-	9	939	c.939G>A	c.(937-939)acG>acA	p.T313T	ITGA8_uc010qcb.1_Silent_p.T298T	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	313					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTGTTCTCCCGTGAAATTCT	0.328												
PTCHD3	374308	broad.mit.edu	37	10	27702997	27702997	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:27702997C>T	uc001itu.2	-	0	301	c.183G>A	c.(181-183)gcG>gcA	p.A61A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	61					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCTCCGACGCCAGGGGTC	0.687												
PTEN	5728	broad.mit.edu	37	10	89717691	89717691	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:89717691T>G	uc001kfb.3	+	6	1748	c.716T>G	c.(715-717)aTg>aGg	p.M239R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	239	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K237_Y240>N(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.F238L(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACAAGTTCATGTACTTTGAG	0.413		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
NFKB2	4791	broad.mit.edu	37	10	104156679	104156679	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:104156679C>T	uc001kvb.3	+	5	527	c.262C>T	c.(262-264)Cca>Tca	p.P88S	NFKB2_uc001kva.3_Missense_Mutation_p.P88S|NFKB2_uc010qqk.1_Missense_Mutation_p.P88S|NFKB2_uc001kvd.3_Missense_Mutation_p.P88S|NFKB2_uc009xxc.3_Missense_Mutation_p.P88S	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	88	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CTACGAGGGACCAGCCAAGAT	0.602			T	IGH@	B-NHL							
LRRC56	115399	broad.mit.edu	37	11	554078	554078	+	Silent	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:554078T>C	uc010qvz.2	+	13	1936	c.1431T>C	c.(1429-1431)cgT>cgC	p.R477R		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	477										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGGGGCGTCGGCTCCGAG	0.697												
WEE1	7465	broad.mit.edu	37	11	9608358	9608358	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:9608358G>C	uc001mhs.3	+	9	1995	c.1742G>C	c.(1741-1743)cGa>cCa	p.R581P	WEE1_uc001mht.3_Missense_Mutation_p.R367P	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	581					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.L580F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAACAATTACGAATAGAATTG	0.348												
CHRM4	1132	broad.mit.edu	37	11	46407321	46407321	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:46407321C>T	uc001nct.1	-	0	787	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	263					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TCCTCCCGGGCGGCCTCCCCG	0.682												
OR8H3	390152	broad.mit.edu	37	11	55890095	55890095	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:55890095T>A	uc001nii.1	+	0	247	c.247T>A	c.(247-249)Tta>Ata	p.L83I		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACCTAAAACCTTAGCGAACTT	0.438												
OR5M11	219487	broad.mit.edu	37	11	56310099	56310099	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:56310099A>T	uc010rjl.2	-	0	635	c.635T>A	c.(634-636)aTc>aAc	p.I212N	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CACCAAGACGATGGTGAGGGA	0.502												
AHNAK	79026	broad.mit.edu	37	11	62297453	62297453	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:62297453T>A	uc001ntl.3	-	4	4736	c.4436A>T	c.(4435-4437)gAg>gTg	p.E1479V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1479					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)				AGCTTTTATCTCTCCTTCTAC	0.418												
PLCB3	5331	broad.mit.edu	37	11	64024115	64024115	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:64024115C>T	uc009ypi.3	+	9	1018	c.891C>T	c.(889-891)agC>agT	p.S297S	PLCB3_uc009ypg.2_Silent_p.S297S|PLCB3_uc009yph.2_Silent_p.S230S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	297					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGGCTTTAGCCGCTACCTGG	0.632												
ATG2A	23130	broad.mit.edu	37	11	64668368	64668368	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:64668368T>G	uc001obx.3	-	29	4431	c.4316A>C	c.(4315-4317)cAc>cCc	p.H1439P	ATG2A_uc001obw.3_Missense_Mutation_p.H204P	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1439							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTGGCCGGGGTGGGGGCCAAA	0.657												
TMPRSS4	56649	broad.mit.edu	37	11	117975409	117975409	+	Missense_Mutation	SNP	G	G	A	rs140457645	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:117975409G>A	uc021qrd.1	+	4	605	c.314G>A	c.(313-315)cGc>cAc	p.R105H	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.R105H|TMPRSS4_uc010rxo.2_Missense_Mutation_p.R103H|TMPRSS4_uc010rxs.2_Missense_Mutation_p.R65H|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.R80H|TMPRSS4_uc010rxt.2_Missense_Mutation_p.R80H	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	105	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTCCCAGTCCGCCTCTCCAAG	0.587												
C11orf63	79864	broad.mit.edu	37	11	122775064	122775064	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:122775064A>G	uc001pym.3	+	2	1073	c.776A>G	c.(775-777)aAc>aGc	p.N259S	C11orf63_uc001pyl.1_Missense_Mutation_p.N259S	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	259										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTGGAAAAAAACAAGCTCACT	0.463												
NR4A1	3164	broad.mit.edu	37	12	52451228	52451228	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:52451228G>A	uc001rzs.3	+	6	1773	c.1454G>A	c.(1453-1455)aGt>aAt	p.S485N	NR4A1_uc010sno.2_Missense_Mutation_p.S498N|NR4A1_uc001rzt.3_Missense_Mutation_p.S485N|NR4A1_uc009zmc.3_Missense_Mutation_p.V99I	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	485					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TGGATTGACAGTATCCTGGCC	0.612												
AGAP2	116986	broad.mit.edu	37	12	58124715	58124715	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:58124715C>A	uc001spq.3	-	10	2167	c.2167G>T	c.(2167-2169)Ggc>Tgc	p.G723C	AGAP2_uc001spp.3_Missense_Mutation_p.G723C|AGAP2_uc001spr.3_Missense_Mutation_p.G387C	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	723	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATCTCCTTGCCGTGGGTACTG	0.582												
TDG	6996	broad.mit.edu	37	12	104377129	104377129	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:104377129T>A	uc001tkg.3	+	6	977	c.754T>A	c.(754-756)Ttt>Att	p.F252I	TDG_uc009zuk.3_Missense_Mutation_p.F248I|TDG_uc010swi.2_Missense_Mutation_p.F109I|TDG_uc010swj.2_Missense_Mutation_p.F40I	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	252					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAACTTGGAATTTGGGCTTCA	0.299								Base excision repair (BER), DNA glycosylases				
BTBD11	121551	broad.mit.edu	37	12	108010913	108010913	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:108010913C>T	uc001tmk.1	+	7	2570	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	BTBD11_uc009zut.1_Silent_p.G683G|BTBD11_uc001tmj.3_Silent_p.G683G|BTBD11_uc001tml.1_Silent_p.G220G	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	683						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGAGCATGGCGAGGAGAACT	0.612												
KSR2	283455	broad.mit.edu	37	12	117993076	117993076	+	Silent	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:117993076T>C	uc001two.2	-	8	1384	c.1329A>G	c.(1327-1329)acA>acG	p.T443T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	472					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACGGACTCTGTCCGGACTA	0.478												
DIABLO	56616	broad.mit.edu	37	12	122702873	122702873	+	Silent	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:122702873G>T	uc010tab.2	-	3	1060	c.255C>A	c.(253-255)acC>acA	p.T85T	DIABLO_uc010taa.2_Silent_p.T32T|DIABLO_uc010tac.2_Intron|DIABLO_uc010tad.2_Intron|VPS33A_uc001ucc.3_Non-coding_Transcript	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	85				Missing (in Ref. 2; BAB71568).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GAAAGGTAGAGGTGCTATCTG	0.403												
KNTC1	9735	broad.mit.edu	37	12	123014673	123014673	+	Silent	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:123014673T>G	uc001ucv.3	+	1	226	c.63T>G	c.(61-63)ggT>ggG	p.G21G	KNTC1_uc010taf.2_Silent_p.G21G	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	21					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGAGTGTCGGTTCAAGAAAAG	0.403												
GPR133	283383	broad.mit.edu	37	12	131593382	131593382	+	Silent	SNP	G	G	A	rs60880996	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:131593382G>A	uc010tbm.2	+	18	2656	c.2097G>A	c.(2095-2097)tcG>tcA	p.S699S	GPR133_uc001uit.4_Silent_p.S667S|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Silent_p.S186S|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	667					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S667S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTGGGTCGGAGGACAGCA	0.607												
BIVM-ERCC5	2073	broad.mit.edu	37	13	103514821	103514821	+	Missense_Mutation	SNP	C	C	T	rs112825485		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr13:103514821C>T	uc001vpu.2	+	15	2806	c.2684C>T	c.(2683-2685)cCg>cTg	p.P895L	BIVM-ERCC5_uc010tjb.2_Missense_Mutation_p.P441L|BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.P441L|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Missense_Mutation_p.P273L	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	866					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										AAAGGAATACCGTTTACTGCA	0.493												
MYH7	4625	broad.mit.edu	37	14	23889445	23889446	+	Splice_Site	INS	-	-	G	rs45504498		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:23889445_23889446insG	uc001wjx.3	-	27	3443	c.3337_splice	c.e27-1	p.A1113_splice	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1113					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GATGCGTGCCTGGTCAGACACA	0.629												
MYH7	4625	broad.mit.edu	37	14	23898235	23898235	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:23898235T>G	uc001wjx.3	-	13	1442	c.1336A>C	c.(1336-1338)Acc>Ccc	p.T446P		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	446	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T446T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTCTCCAGGGTGGCATTGATG	0.567												
FSCB	84075	broad.mit.edu	37	14	44975414	44975414	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:44975414A>G	uc001wvn.3	-	0	1086	c.777T>C	c.(775-777)ccT>ccC	p.P259P		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	259						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGTTGATGGAGGCTCTATTT	0.458												
SYT16	83851	broad.mit.edu	37	14	62541877	62541877	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:62541877G>A	uc001xfu.1	+	2	958	c.761G>A	c.(760-762)cGt>cAt	p.R254H	SYT16_uc010tsd.1_Missense_Mutation_p.R254H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	254										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGCCAACGGCGTTATTCTGAG	0.428												
MAP3K9	4293	broad.mit.edu	37	14	71216774	71216774	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:71216774C>A	uc001xmm.3	-	3	1026	c.1026G>T	c.(1024-1026)ttG>ttT	p.L342F	MAP3K9_uc010ttk.2_Missense_Mutation_p.L79F|MAP3K9_uc001xmk.3_Missense_Mutation_p.L36F|MAP3K9_uc001xml.3_Missense_Mutation_p.L342F	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	342	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACCAGTCAGCAACTCCCAAA	0.488												
CACNA1H	8912	broad.mit.edu	37	16	1270781	1270781	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:1270781C>T	uc002cks.3	+	34	7097	c.6849C>T	c.(6847-6849)gaC>gaT	p.D2283D	CACNA1H_uc002ckt.3_Silent_p.D2277D|CACNA1H_uc002cku.3_Silent_p.D978D|CACNA1H_uc010brj.3_Silent_p.D994D|CACNA1H_uc002ckv.3_Silent_p.D972D	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2283					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTTTCTTGGACGGTAGCCACA	0.652												
ZNF263	10127	broad.mit.edu	37	16	3339529	3339529	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:3339529G>A	uc002cuq.3	+	5	1355	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	341					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						ATGACCGGTCGCAAGGGGATT	0.632												
IQCK	124152	broad.mit.edu	37	16	19729740	19729740	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:19729740G>C	uc002dgr.3	+	1	811	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.E38Q|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	Homo sapiens IQ motif containing K (IQCK), mRNA.	38										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CGCGTCCCGCGAGCTGCCTGT	0.652												
MVP	9961	broad.mit.edu	37	16	29855978	29855978	+	Missense_Mutation	SNP	G	G	A	rs148167046		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:29855978G>A	uc002dui.3	+	10	1951	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R600H|MVP_uc010vea.2_Missense_Mutation_p.R194H	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	600					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	p.R600L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCATCATTCGCACTGCTGTC	0.617												
PRSS36	146547	broad.mit.edu	37	16	31151818	31151818	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:31151818T>C	uc002ebd.3	-	12	2221	c.2162A>G	c.(2161-2163)gAc>gGc	p.D721G	PRSS36_uc010vff.2_Missense_Mutation_p.D496G|PRSS36_uc010vfg.2_Missense_Mutation_p.D716G|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	721	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTCACCTCGGTCCTGGGGTTC	0.667												
RPGRIP1L	23322	broad.mit.edu	37	16	53686572	53686572	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:53686572T>C	uc002ehp.3	-	14	2091	c.2027A>G	c.(2026-2028)aAt>aGt	p.N676S	RPGRIP1L_uc002eho.4_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.N676S|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N676S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	676	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGTGATAGTATTCTTCTGAAT	0.378												
NUDT21	11051	broad.mit.edu	37	16	56473612	56473612	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:56473612T>C	uc002eja.3	-	3	575	c.428A>G	c.(427-429)gAt>gGt	p.D143G		NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	143	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACCAATGCAATCGTCAATGAC	0.408												
TMEM208	29100	broad.mit.edu	37	16	67261781	67261781	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:67261781G>C	uc002esi.2	+	1	155	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	Homo sapiens transmembrane protein 208 (TMEM208), mRNA.	17						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGATATTTGAAGAGAACAG	0.532												
EDC4	23644	broad.mit.edu	37	16	67914753	67914753	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:67914753A>G	uc002eur.3	+	17	2630	c.2391A>G	c.(2389-2391)ggA>ggG	p.G797G	EDC4_uc010cer.3_Silent_p.G416G|EDC4_uc002eus.3_Silent_p.G527G|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	797					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCTTGATGGAGGCCCTGGGG	0.672												
PLCG2	5336	broad.mit.edu	37	16	81942161	81942161	+	Silent	SNP	C	C	T	rs11548654		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:81942161C>T	uc002fgt.3	+	16	1876	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	PLCG2_uc010chg.1_Silent_p.S566S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	566	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCGGGAGAGCGAGACCTTCC	0.592												
DERL2	51009	broad.mit.edu	37	17	5383436	5383436	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:5383436G>T	uc002gcc.1	-	5	565	c.552C>A	c.(550-552)ttC>ttA	p.F184L		NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA.	184					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						CATCTTCCAAGAAAAAATATA	0.358												
TP53	7157	broad.mit.edu	37	17	7577544	7577544	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7577544A>C	uc002gim.2	-	6	931	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_uc002gig.1_Missense_Mutation_p.M246R|TP53_uc002gih.3_Missense_Mutation_p.M246R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M114R|TP53_uc010cnf.1_Missense_Mutation_p.M114R|TP53_uc002gii.1_Missense_Mutation_p.M114R|TP53_uc010cni.1_Missense_Mutation_p.M246R|TP53_uc010cnh.1_Missense_Mutation_p.M246R|TP53_uc002gij.2_Missense_Mutation_p.M246R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M153R|TP53_uc002gio.2_Missense_Mutation_p.M114R|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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.G245S(296)|p.G245D(99)|p.G245V(58)|p.G245C(51)|p.M246V(31)|p.M246I(24)|p.M246R(20)|p.M246T(17)|p.M246K(15)|p.G245R(10)|p.G245A(8)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(4)|p.G245G(3)|p.G245fs*2(3)|p.M246L(3)|p.G245N(2)|p.C238_M246delCNSSCMGGM(2)|p.M246fs*1(2)|p.G245fs*14(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*22(1)|p.M153T(1)|p.G245del(1)|p.G244_M246>V(1)|p.C242fs*98(1)|p.S241_G245delSCMGG(1)|p.G245fs*17(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)		CCTCCGGTTCATGCCGCCCAT	0.572		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)		
DNAH2	146754	broad.mit.edu	37	17	7640511	7640511	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7640511C>T	uc002giu.1	+	6	1119	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	DNAH2_uc002git.3_Missense_Mutation_p.R369C|DNAH2_uc010vuk.2_Missense_Mutation_p.R369C	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	369	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGTCTCATCCGCATCATCTG	0.517												
ALOX15B	247	broad.mit.edu	37	17	7943287	7943287	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7943287G>A	uc002gju.3	+	2	551	c.435G>A	c.(433-435)cgG>cgA	p.R145R	ALOX15B_uc002gjv.3_Silent_p.R145R|ALOX15B_uc002gjw.3_Silent_p.R145R|ALOX15B_uc010vun.2_Silent_p.R145R|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	145	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TTCAGGCCCGGCAGGAGATGT	0.607												
GLP2R	9340	broad.mit.edu	37	17	9737155	9737155	+	Missense_Mutation	SNP	G	G	A	rs147858947	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:9737155G>A	uc002gmd.1	+	1	221	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	74					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GAAACGACTCGGAAGTGGGCT	0.483												
MYH13	8735	broad.mit.edu	37	17	10243484	10243484	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:10243484T>C	uc002gmk.1	-	17	2129	c.2039A>G	c.(2038-2040)aAt>aGt	p.N680S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	680	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTGGTCTCATTGGGAATCAG	0.423												
CETN1	1068	broad.mit.edu	37	18	580606	580606	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:580606G>A	uc002kko.1	+	0	238	c.198G>A	c.(196-198)aaG>aaA	p.K66K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	66	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AACCCAGGAAGGAAGAGATGA	0.557												
MYOM1	8736	broad.mit.edu	37	18	3126851	3126851	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:3126851G>A	uc002klp.3	-	18	3173	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MYOM1_uc002klq.3_Missense_Mutation_p.R851C	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	947	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle	p.R947C(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGAGTCACGAAAACTTTCA	0.423												
DSC2	1824	broad.mit.edu	37	18	28659892	28659892	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:28659892T>A	uc002kwl.4	-	10	2038	c.1584A>T	c.(1582-1584)aaA>aaT	p.K528N	DSC2_uc002kwk.4_Missense_Mutation_p.K528N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	528	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCTGAAAACTTTGATTGATC	0.343												
TNFSF9	8744	broad.mit.edu	37	19	6531065	6531065	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:6531065C>T	uc002mfh.2	+	0	56	c.18C>T	c.(16-18)gaC>gaT	p.D6D		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	6					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACGCCTCTGACGCTTCACTGG	0.692												
FBN3	84467	broad.mit.edu	37	19	8200953	8200953	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:8200953C>G	uc002mjf.3	-	11	1500	c.1483G>C	c.(1483-1485)Gtc>Ctc	p.V495L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	495	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCACCACTGACAATGCACTCG	0.612												
WDR83	84292	broad.mit.edu	37	19	12779320	12779320	+	Splice_Site	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:12779320A>G	uc002mue.4	+	2	190	c.-155_splice	c.e2-2		MAN2B1_uc010dyv.1_5'Flank|MAN2B1_uc002mub.2_5'Flank|WDR83_uc002muc.3_Splice_Site|WDR83OS_uc002mud.2_Intron|WDR83_uc010dyw.3_5'Flank	NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN	Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						CTTGTTCTGTAGGGCAAGTCT	0.557												
MYO9B	4650	broad.mit.edu	37	19	17308666	17308666	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:17308666A>G	uc010eak.3	+	23	4265	c.4113_splice	c.e23+1	p.Q1371_splice	MYO9B_uc002nfi.3_Splice_Site_p.Q1371_splice|MYO9B_uc002nfj.1_Splice_Site_p.Q1371_splice|MYO9B_uc002nfl.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1371	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCAAGGCTCAGGTAACAAca	0.557												
ZFP30	22835	broad.mit.edu	37	19	38127033	38127033	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:38127033G>A	uc002ogv.1	-	5	925	c.409C>T	c.(409-411)Cct>Tct	p.P137S	ZFP30_uc002ogw.1_Missense_Mutation_p.P137S|ZFP30_uc002ogx.1_Missense_Mutation_p.P137S|ZFP30_uc010xtt.1_Missense_Mutation_p.P136S	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGTAAGTAGGCATTTTTTCA	0.408												
CEACAM4	1089	broad.mit.edu	37	19	42133314	42133314	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:42133314G>A	uc010xwd.1	-	0	129	c.18C>T	c.(16-18)gcC>gcT	p.A6A	CEACAM4_uc002orh.1_Silent_p.A6A	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	6						integral to plasma membrane|membrane fraction		p.S5fs*15(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CACGGGGAGCGGCTGAGGGGG	0.652												
CLPTM1	1209	broad.mit.edu	37	19	45476426	45476426	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:45476426C>T	uc002pai.3	+	2	322	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.2_5'UTR|CLPTM1_uc010xxg.2_Missense_Mutation_p.R76C	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	90					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.R90C(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGGAGCTCCACGCGTCGCCAG	0.627												
LILRA5	353514	broad.mit.edu	37	19	54823150	54823150	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:54823150C>T	uc002qfe.3	-	3	513	c.393G>A	c.(391-393)ctG>ctA	p.L131L	LILRA5_uc002qff.3_Silent_p.L119L|LILRA5_uc010yev.2_Silent_p.L131L|LILRA5_uc010yew.2_Silent_p.L119L|LILRA5_uc002qfg.1_Silent_p.L131L|LILRA5_uc002qfh.1_Silent_p.L119L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	131	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACCAGCTCCAGGGGGTCGC	0.622												
NLRP13	126204	broad.mit.edu	37	19	56422072	56422072	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:56422072G>A	uc010ygg.2	-	5	2164	c.2139C>T	c.(2137-2139)caC>caT	p.H713H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	713							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTTCCATGCGTGCATCCTGG	0.463												
CAD	790	broad.mit.edu	37	2	27449783	27449783	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:27449783A>G	uc002rji.3	+	14	2402	c.2240A>G	c.(2239-2241)aAg>aGg	p.K747R	CAD_uc010eyw.3_Missense_Mutation_p.K684R	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	747	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GACCTTAGCAAGTTCCTGCGA	0.562												
DPP10	57628	broad.mit.edu	37	2	116548668	116548668	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:116548668T>A	uc002tle.3	+	17	1576	c.1555T>A	c.(1555-1557)Ttg>Atg	p.L519M	DPP10_uc002tla.2_Missense_Mutation_p.L515M|DPP10_uc002tlb.2_Missense_Mutation_p.L465M|DPP10_uc002tlc.2_Missense_Mutation_p.L511M|DPP10_uc002tlf.2_Missense_Mutation_p.L508M	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	515					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						ATATTTTATATTGGAAAGCAA	0.328												
YSK4	80122	broad.mit.edu	37	2	135744775	135744775	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:135744775G>A	uc002tue.1	-	6	1698	c.1667C>T	c.(1666-1668)aCt>aTt	p.T556I	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T443I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.T284I|YSK4_uc002tui.4_Missense_Mutation_p.T573I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	556							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGACCTTCAGTAGAAATCAC	0.428												
FAP	2191	broad.mit.edu	37	2	163055364	163055365	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:163055364_163055365GC>AA	uc002ucd.3	-	15	1512_1513	c.1304_1305GC>TT	c.(1303-1305)agc>aTT	p.S435I	FAP_uc010fpc.3_5'UTR|FAP_uc010zct.2_Missense_Mutation_p.S410I	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	435					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.P434P(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CACACTTCTTGCTTGGAGGATA	0.371												
TTN	7273	broad.mit.edu	37	2	179421857	179421857	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179421857C>T	uc021vsy.1	-	278	80545	c.80320G>A	c.(80320-80322)Gtt>Att	p.V26774I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V20469I|TTN_uc021vta.1_Missense_Mutation_p.V20402I|TTN_uc021vtb.1_Missense_Mutation_p.V20277I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27701	Ig-like 128.						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)			GTGATACGAACATTTCTTGGG	0.403												
TTN	7273	broad.mit.edu	37	2	179483569	179483569	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179483569T>A	uc021vsy.1	-	199	39229	c.39004A>T	c.(39004-39006)Atc>Ttc	p.I13002F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I6697F|TTN_uc021vta.1_Missense_Mutation_p.I6630F|TTN_uc021vtb.1_Missense_Mutation_p.I6505F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13929	Ig-like 86.						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)			GCTGTCTTGATTTTTGGTGCA	0.408												
TTN	7273	broad.mit.edu	37	2	179485012	179485012	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179485012G>A	uc021vsy.1	-	196	38757	c.38532C>T	c.(38530-38532)tgC>tgT	p.C12844C	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.C6539C|TTN_uc021vta.1_Silent_p.C6472C|TTN_uc021vtb.1_Silent_p.C6347C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13771	Ig-like 85.						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)			TGGAGAGCTGGCAGGAGAAGA	0.418												
CPXM1	56265	broad.mit.edu	37	20	2776322	2776322	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:2776322C>T	uc002wgu.3	-	10	1717	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H	CPXM1_uc010gas.3_Intron	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	548					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCAGGGTCGGCGGCTGGTGTC	0.622												
ProSAPiP1	9762	broad.mit.edu	37	20	3146165	3146165	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:3146165C>T	uc002wia.1	-	1	2699	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q	ProSAPiP1_uc002wib.1_Missense_Mutation_p.R388Q	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	434						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCCTCTATCCGGGGCAGGAA	0.662												
CRLS1	54675	broad.mit.edu	37	20	5996124	5996124	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:5996124G>T	uc002wmn.4	+	2	716	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	CRLS1_uc010gbq.3_Non-coding_Transcript|CRLS1_uc010gbr.3_Missense_Mutation_p.D89Y|CRLS1_uc010gbs.1_Missense_Mutation_p.D77Y	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN	Homo sapiens cardiolipin synthase 1 (CRLS1), transcript variant 1, mRNA.	188					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups			lung(3)|ovary(1)	4						GACCTATGCAGATCTTATTCC	0.383												
SALL4	57167	broad.mit.edu	37	20	50401201	50401201	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:50401201G>A	uc002xwh.4	-	3	2866	c.2765C>T	c.(2764-2766)gCg>gTg	p.A922V	SALL4_uc010gii.3_Missense_Mutation_p.A485V|SALL4_uc002xwi.4_Missense_Mutation_p.A145V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	922					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A922V(2)|p.G921W(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTATTGTTCGCCCCGTGTGT	0.468												
LZTR1	8216	broad.mit.edu	37	22	21345975	21345975	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr22:21345975C>A	uc002zto.3	+	8	953	c.850C>A	c.(850-852)Cgc>Agc	p.R284S	LZTR1_uc002ztn.3_Missense_Mutation_p.R243S|LZTR1_uc011ahy.2_Missense_Mutation_p.R265S|LZTR1_uc010gsr.1_Missense_Mutation_p.R155S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	284					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCGCAGCGGCGCTACGGGCA	0.632												
FGD5	152273	broad.mit.edu	37	3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:14861995G>A	uc003bzc.3	+	0	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_uc011avk.2_Missense_Mutation_p.A473T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	473					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAA	0.642												
ZBED2	79413	broad.mit.edu	37	3	111312849	111312849	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:111312849C>T	uc003dxy.3	-	1	1101	c.200G>A	c.(199-201)cGt>cAt	p.R67H	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.R67H	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	67							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GTGCCCAGCACGAGCAGGAGC	0.612												
MFI2	4241	broad.mit.edu	37	3	196735736	196735736	+	Silent	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:196735736G>C	uc003fxk.4	-	11	1740	c.1626C>G	c.(1624-1626)cgC>cgG	p.R542R		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	542	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CACACTTGTTGCGGCCCTGCT	0.642												
ARAP2	116984	broad.mit.edu	37	4	36231022	36231022	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:36231022C>G	uc003gsq.2	-	1	425	c.87G>C	c.(85-87)gaG>gaC	p.E29D	ARAP2_uc003gsr.1_Missense_Mutation_p.E29D	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	29	SAM.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAACCAGACTCATGGAAAT	0.393												
RBM47	54502	broad.mit.edu	37	4	40440160	40440160	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:40440160G>A	uc003gvc.2	-	3	1461	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	RBM47_uc003gvd.2_Missense_Mutation_p.R251C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R213C|RBM47_uc003gvg.1_Missense_Mutation_p.R251C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	251	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGAGGTTGCGCACGTAGAGG	0.617												
UBA6	55236	broad.mit.edu	37	4	68543331	68543331	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:68543331G>T	uc003hdg.4	-	5	515	c.463C>A	c.(463-465)Cag>Aag	p.Q155K	UBA6_uc003hdi.3_Missense_Mutation_p.Q155K|UBA6_uc003hdj.2_Missense_Mutation_p.Q155K	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	155					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTACTAACCTGGTATTTATCT	0.308												
TMPRSS11E	28983	broad.mit.edu	37	4	69344650	69344650	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:69344650G>A	uc003hdz.4	+	8	1115	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	351	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTACAATGACGCCATAACTCC	0.388												
PTPN13	5783	broad.mit.edu	37	4	87671855	87671855	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:87671855A>G	uc003hpz.3	+	17	3363	c.2883A>G	c.(2881-2883)gaA>gaG	p.E961E	PTPN13_uc003hpy.3_Silent_p.E961E|PTPN13_uc003hqa.3_Silent_p.E961E|PTPN13_uc003hqb.3_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	961						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATGGGAGGAAAAGCCTAGAG	0.438												
CCNA2	890	broad.mit.edu	37	4	122744710	122744710	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:122744710G>A	uc003iec.4	-	0	379	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_001237	NP_001228	P20248	CCNA2_HUMAN	Homo sapiens cyclin A2 (CCNA2), mRNA.	25					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						CTCTTGGAGCGCCGTCTGCTG	0.692												
SMARCA5	8467	broad.mit.edu	37	4	144461639	144461639	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:144461639A>T	uc003ijg.3	+	13	2356	c.1894A>T	c.(1894-1896)Att>Ttt	p.I632F		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	632	Helicase C-terminal.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTCAATAGTCATTCAACAAGG	0.363												
C4orf45	152940	broad.mit.edu	37	4	159881481	159881481	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:159881481G>T	uc003iqf.1	-	2	398	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	C4orf45_uc010iqt.1_Intron	NM_152543	NP_689756	Q96LM5	CD045_HUMAN	Homo sapiens chromosome 4 open reading frame 45 (C4orf45), mRNA.	105										large_intestine(2)|lung(3)	5						AGAGAAGCTTGACTTAGTTCT	0.308												
PLEKHG4B	153478	broad.mit.edu	37	5	140833	140833	+	Splice_Site	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:140833T>G	uc003jak.2	+	1	459	c.409_splice	c.e1+2	p.D137_splice		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	137					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAGAGGAAGGTAAATGCTCCC	0.642												
CTNND2	1501	broad.mit.edu	37	5	11199757	11199757	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:11199757C>T	uc003jfa.1	-	10	1923	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D	CTNND2_uc010itt.2_Missense_Mutation_p.G502D|CTNND2_uc011cmy.1_Missense_Mutation_p.G256D|CTNND2_uc011cmz.1_Missense_Mutation_p.G160D|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G160D	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	593					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGCTGGATGCCTCCTTGTCT	0.473												
PTGER4	5734	broad.mit.edu	37	5	40681332	40681332	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:40681332G>A	uc003jlz.3	+	1	829	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	79					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCATCGCCACGTACATGAAGG	0.607											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
THBS4	7060	broad.mit.edu	37	5	79373950	79373950	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:79373950A>G	uc021yaw.1	+	16	2356	c.2165A>G	c.(2164-2166)aAc>aGc	p.N722S	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	722					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGCCCAGAGAACGCAGAGGTC	0.592												
GPR98	84059	broad.mit.edu	37	5	90021005	90021005	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:90021005C>A	uc003kju.3	+	46	10105	c.10009C>A	c.(10009-10011)Ctt>Att	p.L3337I	GPR98_uc003kjt.3_Missense_Mutation_p.L1043I|GPR98_uc003kjv.3_Missense_Mutation_p.L937I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3337					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGCCTTCTCTTAACAGTGT	0.264												
PCDHB1	29930	broad.mit.edu	37	5	140432384	140432384	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:140432384C>T	uc003lik.1	+	0	1406	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	443	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTAATATCCGACGTTAATG	0.448												
FAM71B	153745	broad.mit.edu	37	5	156589852	156589852	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:156589852T>C	uc003lwn.3	-	1	1524	c.1424A>G	c.(1423-1425)aAc>aGc	p.N475S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	475						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTCTCGTGTTTTTATGGCC	0.527												
GABRA6	2559	broad.mit.edu	37	5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:161128598C>T	uc003lyu.2	+	8	1519	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	GABRA6_uc003lyv.2_Missense_Mutation_p.A165V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	394					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCACGAGAGCGCCCATCTTA	0.473										TCGA Ovarian(5;0.080)		
MDC1	9656	broad.mit.edu	37	6	30675376	30675376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:30675376C>A	uc003nrg.4	-	7	3420	c.2980G>T	c.(2980-2982)Gga>Tga	p.G994*	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	994				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACTGGGGATCCCCTTCCACCT	0.637								Other conserved DNA damage response genes				
DST	667	broad.mit.edu	37	6	56476386	56476386	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:56476386A>G	uc003pcy.4	-	23	3564	c.3456T>C	c.(3454-3456)agT>agC	p.S1152S	DST_uc021zax.1_Silent_p.S1152S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3556					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATTTCCTCACTGGAAATCT	0.333												
PTP4A1	7803	broad.mit.edu	37	6	64289185	64289185	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:64289185C>A	uc003pek.3	+	6	1339	c.353C>A	c.(352-354)gCa>gAa	p.A118E	PTP4A1_uc003pel.3_Missense_Mutation_p.A118E|PTP4A1_uc021zbm.1_Non-coding_Transcript	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 1 (PTP4A1), mRNA.	118	Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase.				cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			GTTGCCCTAGCATTAATTGAA	0.328												
CEP57L1	285753	broad.mit.edu	37	6	109480497	109480497	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:109480497T>C	uc010kdk.3	+	10	1425	c.848T>C	c.(847-849)aTc>aCc	p.I283T	CEP57L1_uc003psx.4_Missense_Mutation_p.I283T|CEP57L1_uc010kdl.3_Missense_Mutation_p.I283T|CEP57L1_uc003psy.4_Missense_Mutation_p.I283T	NM_001083535	NP_776191	Q8IYX8	CE57L_HUMAN	Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA.	283						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GACCCACATATCCTTCAGAAA	0.433												
C6orf170	221322	broad.mit.edu	37	6	121433663	121433663	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:121433663C>G	uc003pyo.1	-	28	3380	c.3312G>C	c.(3310-3312)agG>agC	p.R1104S		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	1104					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AAATATGTAGCCTTGGCAACC	0.338												
GRM1	2911	broad.mit.edu	37	6	146708084	146708084	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:146708084A>T	uc010khw.1	+	6	2131	c.1661A>T	c.(1660-1662)gAa>gTa	p.E554V	GRM1_uc010khv.1_Missense_Mutation_p.E554V|GRM1_uc003qll.2_Missense_Mutation_p.E554V|GRM1_uc011edz.1_Missense_Mutation_p.E554V|GRM1_uc011eea.1_Missense_Mutation_p.E554V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	554					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AAAGAGAATGAATATGTGCAA	0.438												
PLEKHG1	57480	broad.mit.edu	37	6	151117039	151117039	+	Splice_Site	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:151117039G>T	uc011eem.1	+	5	894	c.806_splice	c.e5+1	p.R269_splice	PLEKHG1_uc011eel.1_Splice_Site_p.R250_splice|PLEKHG1_uc003qny.1_Splice_Site_p.R210_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.R210_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	210	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACTATCCAAGGTATGGATCGA	0.403												
SYNE1	23345	broad.mit.edu	37	6	152792795	152792795	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:152792795C>T	uc021zhb.1	-	13	1792	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	SYNE1_uc003qot.4_Silent_p.L530L|SYNE1_uc003qou.4_Silent_p.L523L|SYNE1_uc010kjb.1_Silent_p.L506L|SYNE1_uc003qpa.1_Silent_p.L523L|SYNE1_uc003qox.1_Silent_p.L39L|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Silent_p.L90L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	523					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.L523L(3)|p.L530L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAAGACTTCAGCTTTGACT	0.438										HNSCC(10;0.0054)		
SLC29A4	222962	broad.mit.edu	37	7	5330388	5330388	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:5330388C>T	uc003sod.3	+	2	356	c.195C>T	c.(193-195)gaC>gaT	p.D65D	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.D65D|SLC29A4_uc003soe.3_Silent_p.D65D	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	65					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.D64N(4)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGCCCGATGACCGTTATCACG	0.587												
CPVL	54504	broad.mit.edu	37	7	29134756	29134756	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:29134756G>A	uc003szv.3	-	4	525	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	CPVL_uc003szw.3_Missense_Mutation_p.R136C|CPVL_uc003szx.3_Missense_Mutation_p.R136C	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	136					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTCTGTCACGCACTGTGAAA	0.547												
RABGEF1	27342	broad.mit.edu	37	7	66270262	66270262	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:66270262T>C	uc003tvf.3	+	11	1791	c.575T>C	c.(574-576)cTc>cCc	p.L192P	RABGEF1_uc003tvg.3_Missense_Mutation_p.L127P|RABGEF1_uc003tvh.3_Missense_Mutation_p.L319P|RABGEF1_uc010lag.3_Missense_Mutation_p.L319P|RABGEF1_uc011kee.2_Missense_Mutation_p.L333P|RABGEF1_uc003tvi.3_Missense_Mutation_p.L153P	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	536	Interaction with ubiquitinated proteins.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CTCCCCACCCTCATCTACATT	0.522												
RBM48	84060	broad.mit.edu	37	7	92158936	92158936	+	Silent	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:92158936T>C	uc003uma.3	+	1	299	c.258T>C	c.(256-258)ttT>ttC	p.F86F	PEX1_uc003uly.3_5'Flank|PEX1_uc011khr.2_5'Flank|PEX1_uc010ley.3_5'Flank|PEX1_uc011khs.2_5'Flank|RBM48_uc011khu.1_Silent_p.F86F|RBM48_uc003ulz.3_Silent_p.F86F			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	86							nucleotide binding										CAGAAGACTTTACTGAAGTTT	0.353												
HEPACAM2	253012	broad.mit.edu	37	7	92821587	92821587	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:92821587G>A	uc011khy.2	-	9	1457	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	HEPACAM2_uc003uml.3_Silent_p.A443A|HEPACAM2_uc010lff.3_Missense_Mutation_p.P435L|HEPACAM2_uc003umm.3_Silent_p.A455A	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	455						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTGCTGCTGGGCAGGGATGT	0.453												
CALCR	799	broad.mit.edu	37	7	93055835	93055835	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:93055835G>A	uc003umv.2	-	15	1660	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R420C|CALCR_uc003umw.2_Missense_Mutation_p.R420C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	436					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTGGAGGGGCGCCTCCCCCAA	0.557												
ANKRD7	56311	broad.mit.edu	37	7	117864828	117864828	+	Translation_Start_Site	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:117864828C>T	uc003vji.3	+	0						NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.						male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCAGGGCGGACGGCTAGGAGT	0.602												
PLAT	5327	broad.mit.edu	37	8	42037449	42037449	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:42037449T>G	uc003xos.2	-	11	1567	c.1358A>C	c.(1357-1359)gAg>gCg	p.E453A	PLAT_uc010lxf.1_Missense_Mutation_p.E370A|PLAT_uc010lxg.1_Missense_Mutation_p.E278A|PLAT_uc003xot.2_Missense_Mutation_p.E407A|PLAT_uc011lcm.1_Missense_Mutation_p.E364A|PLAT_uc011lcn.1_Missense_Mutation_p.E327A	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	453	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTTACAGGCCTCATGCTTGCC	0.652												
CYP7B1	9420	broad.mit.edu	37	8	65517238	65517238	+	Splice_Site	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:65517238C>A	uc003xvj.2	-	5	1437	c.1233_splice	c.e5+1	p.E411_splice		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	411					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGTTTACTTACCTCTGGAGCT	0.493												
TRAPPC9	83696	broad.mit.edu	37	8	141461384	141461384	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:141461384T>C	uc003yvh.2	-	1	398	c.383A>G	c.(382-384)aAc>aGc	p.N128S	TRAPPC9_uc003yvj.2_Missense_Mutation_p.N30S|TRAPPC9_uc003yvi.1_Missense_Mutation_p.N30S	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	30					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCTGAAGAAGTTCTCCTCGGA	0.567												
ZNF696	79943	broad.mit.edu	37	8	144378380	144378380	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:144378380A>G	uc003yxy.4	+	2	944	c.535A>G	c.(535-537)Agg>Ggg	p.R179G		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CAGCGGGGAGAGGCCCTACGC	0.697												
ARHGAP39	80728	broad.mit.edu	37	8	145806268	145806268	+	Silent	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:145806268C>G	uc003zds.1	-	3	1029	c.474G>C	c.(472-474)cgG>cgC	p.R158R	ARHGAP39_uc011llk.1_Silent_p.R158R|ARHGAP39_uc003zdt.1_Silent_p.R158R	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	158					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACGCCGCGGGCCGCCCGGCCC	0.721												
ARID3C	138715	broad.mit.edu	37	9	34623425	34623425	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:34623425T>C	uc011lon.2	-	3	862	c.862A>G	c.(862-864)Aaa>Gaa	p.K288E	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	288	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTCGCACCTTTCTTAATAGGG	0.592												
FAM75A6	389730	broad.mit.edu	37	9	43628658	43628658	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:43628658G>A	uc011lrb.2	-	2	313	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	95						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AAGAAGGTCCGAAGTCTCCTC	0.612												
SLC28A3	64078	broad.mit.edu	37	9	86928326	86928326	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:86928326T>A	uc010mpz.3	-	1	250	c.104A>T	c.(103-105)aAc>aTc	p.N35I	SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.N35I|SLC28A3_uc010mqb.3_5'UTR	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	35					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTATTGAGTTGTTTCCTGA	0.418												
ROR2	4920	broad.mit.edu	37	9	94487296	94487296	+	Missense_Mutation	SNP	C	C	T	rs138310082	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:94487296C>T	uc004arj.2	-	8	1679	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	ROR2_uc004ari.1_Missense_Mutation_p.G354S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	494	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCAGGGCCGAACAGGTGA	0.602												
ZBTB34	403341	broad.mit.edu	37	9	129643102	129643102	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:129643102T>G	uc022bnn.1	+	0	1412	c.1412T>G	c.(1411-1413)gTg>gGg	p.V471G	ZBTB34_uc004bqm.4_Missense_Mutation_p.V471G	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GATGTGTACGTGGAACAGAAA	0.507												
PRDM12	59335	broad.mit.edu	37	9	133556658	133556658	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:133556658G>A	uc004bzt.1	+	4	766	c.706G>A	c.(706-708)Gcg>Acg	p.A236T		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCGGACTCGGCGGCTGGCCC	0.726												
ESX1	80712	broad.mit.edu	37	X	103495282	103495282	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrX:103495282G>A	uc004ely.3	-	3	917	c.848C>T	c.(847-849)gCg>gTg	p.A283V		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	283	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGGCACAGGCGCCATGCGTGA	0.726												
GPC3	2719	broad.mit.edu	37	X	133087081	133087081	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrX:133087081G>C	uc010nrn.2	-	1	530	c.333C>G	c.(331-333)ttC>ttG	p.F111L	GPC3_uc004exe.2_Missense_Mutation_p.F111L|GPC3_uc011mvh.2_Intron|GPC3_uc010nro.2_Intron|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	111						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACTCACCTTGGAAAACCGCAG	0.373			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome			
NLGN4Y	22829	broad.mit.edu	37	Y	16952864	16952864	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrY:16952864C>G	uc011nas.1	+	6	2412	c.2233C>G	c.(2233-2235)Cag>Gag	p.Q745E	NLGN4Y_uc004fte.2_Missense_Mutation_p.Q557E|NLGN4Y_uc004ftg.2_Missense_Mutation_p.Q725E|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q418E|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q725E	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	725					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CACTCACATCCAGAACGAAGA	0.547												
