Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FER1L5	90342	broad.mit.edu	37	2	97368368	97368368	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:97368368A>C	uc010fia.3	+	46	5395	c.5395A>C	c.(5395-5397)Aag>Cag	p.K1799Q	FER1L5_uc002sws.4_Missense_Mutation_p.K508Q|FER1L5_uc010yus.2_Missense_Mutation_p.K507Q	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1799	C2 6.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GGACATGCAGAAGACAGACAT	0.602000													21	37					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128830577	128830577	+	Silent	SNP	T	T	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:128830577T>A	uc010qun.2	+	17	1969	c.1905T>A	c.(1903-1905)acT>acA	p.T635T	DOCK1_uc001ljt.3_Silent_p.T614T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	614	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCAAACTGACTCAGAACGGTG	0.582000													33	52					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092973	1092973	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:1092973C>T	uc001lsx.1	+	30	4819	c.4792C>T	c.(4792-4794)Ccc>Tcc	p.P1598S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1614	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.P1598S(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	aaccccaacacccaccggcac	0.637000													4	32					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39285639	39285639	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:39285639G>T	uc003oor.4	-	2	432	c.418C>A	c.(418-420)Ctc>Atc	p.L140I	KCNK16_uc003ooq.3_Missense_Mutation_p.L140I|KCNK16_uc010jwy.3_Missense_Mutation_p.L140I|KCNK16_uc011dtz.1_Missense_Mutation_p.L140I	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	140						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGGTGGTTGAGGAAGATCACG	0.592000													7	47					0.00198382	0.00202544	1	1	0
CLASRP	11129	broad.mit.edu	37	19	45571284	45571284	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:45571284C>T	uc002pak.3	+	14	1777	c.1679C>T	c.(1678-1680)gCc>gTc	p.A560V	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.A498V|CLASRP_uc002pam.3_Missense_Mutation_p.A560V	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	560	Arg-rich.				RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						ACCGAACCTGCCGCTGGTAAA	0.632000													4	156					0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100264	27100264	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:27100264G>A	uc003niv.3	-	0	312	c.266C>T	c.(265-267)aCc>aTc	p.T89I	HIST1H2BJ_uc003niu.1_Intron|HIST1H2AG_uc003niw.3_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	Homo sapiens histone cluster 1, H2bj (HIST1H2BJ), mRNA.	89					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GGAGGTGATGGTCGAGCGCTT	0.602000													11	20					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	26					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511694	195511694	+	Missense_Mutation	SNP	C	C	G	rs71634713		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr3:195511694C>G	uc021xjp.1	-	1	6913	c.6757G>C	c.(6757-6759)Gac>Cac	p.D2253H	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1036					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGTGTCACCTGTGGAT	0.582000													4	129					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17896324	17896324	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:17896324T>A	uc002rco.3	-	15	1830	c.1534A>T	c.(1534-1536)Att>Ttt	p.I512F	SMC6_uc010exo.3_Missense_Mutation_p.I512F|SMC6_uc002rcn.3_Missense_Mutation_p.I512F|SMC6_uc002rcp.1_Missense_Mutation_p.I538F|SMC6_uc002rcq.2_Missense_Mutation_p.I538F	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	512	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGAAGATGAATGCAAGCTCCT	0.368000													26	35					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:39240627T>C	uc010wfn.2	+	0	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.S57P(6)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													3	50					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659162	77659162	+	Silent	SNP	G	G	A	rs140841838		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr18:77659162G>A	uc010xfl.2	+	1	747	c.747G>A	c.(745-747)gcG>gcA	p.A249A		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	249					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TCCTGCGCGCGCCACTCAACA	0.677000													6	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:7578271T>G	uc002gim.2	-	5	772	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_uc002gig.1_Missense_Mutation_p.H193P|TP53_uc002gih.3_Missense_Mutation_p.H193P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H61P|TP53_uc010cnf.1_Missense_Mutation_p.H61P|TP53_uc002gii.1_Missense_Mutation_p.H61P|TP53_uc010cni.1_Missense_Mutation_p.H193P|TP53_uc010cnh.1_Missense_Mutation_p.H193P|TP53_uc002gij.2_Missense_Mutation_p.H193P|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100P|TP53_uc002gio.2_Missense_Mutation_p.H61P|TP53_uc010vug.2_Missense_Mutation_p.H154P	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(152)|p.H193L(77)|p.Q192*(71)|p.H193P(32)|p.H193Y(27)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.H193fs*16(6)|p.?(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.H193N(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.Q192H(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.H193H(2)|p.Q192Q(2)|p.Q192K(2)|p.H61P(2)|p.H100P(2)|p.H193_I195>AP(2)|p.A189fs*53(1)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.P98_E105>Q(1)|p.Q192del(1)|p.Q192fs*56(1)|p.Q192fs*16(1)|p.Q192fs*30(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)		TCGGATAAGATGCTGAGGAGG	0.562000		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)			26	79					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33374883	33374883	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:33374883T>C	uc001mul.1	+	16	3687	c.3417T>C	c.(3415-3417)tcT>tcC	p.S1139S	HIPK3_uc001mum.1_Silent_p.S1118S|HIPK3_uc009yjv.1_Silent_p.S1118S	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	1139					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGTTAGCCTCTCCGTGTACCT	0.517000													27	72					0	0	1	0	0
TCEAL4	79921	broad.mit.edu	37	X	102841991	102841991	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chrX:102841991A>G	uc022cbt.1	+	0	388	c.388A>G	c.(388-390)Act>Gct	p.T130A	TCEAL4_uc004ekl.3_Missense_Mutation_p.T130A|TCEAL4_uc004ekm.3_Missense_Mutation_p.T130A|TCEAL4_uc004ekn.3_Missense_Mutation_p.T130A	NM_024863	NP_079139	Q96EI5	TCAL4_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 4 (TCEAL4), transcript variant 1, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CAAAAGAAAAACTAATAAGGG	0.458000													69	80					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88996109	88996109	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr4:88996109G>C	uc003hre.3	+	13	2755	c.2668G>C	c.(2668-2670)Gag>Cag	p.E890Q	PKD2_uc011cdf.2_Missense_Mutation_p.E308Q|PKD2_uc011cdg.2_Missense_Mutation_p.E216Q|PKD2_uc011cdh.2_Missense_Mutation_p.E113Q	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	890	C-terminal coiled coil domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGGGGTGGCCGAGGTCAGTAG	0.468000													15	57					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394418	138394418	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr7:138394418G>T	uc003vuf.3	-	19	2618	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	ATP6V0A4_uc003vug.3_Missense_Mutation_p.L794M|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.L794M	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	794					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCATGATCAGAAGGATGGCT	0.537000													5	132					0.00116845	0.00120136	1	1	0
PCNXL3	399909	broad.mit.edu	37	11	65397996	65397996	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:65397996A>C	uc001oey.2	+	26	4391	c.4391A>C	c.(4390-4392)tAt>tCt	p.Y1464S	PCNXL3_uc001oez.2_Missense_Mutation_p.Y351S	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1464						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTGGAGGGCTATAGCATTAGT	0.572000													36	73					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100903452	100903452	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:100903452G>A	uc002tal.4	-	10	2634	c.1994C>T	c.(1993-1995)gCg>gTg	p.A665V	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	665	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CTGGAGAGACGCGAACCAGGA	0.488000													8	91					0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79496379	79496379	+	Silent	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:79496379G>A	uc010wuo.2	+	0	963	c.822G>A	c.(820-822)cgG>cgA	p.R274R	FSCN2_uc010wup.2_Silent_p.R274R	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	274					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCTCTGTGCGGCAAGGTAGGG	0.647000													56	42					0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10395839	10395839	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:10395839T>A	uc002mnq.2	+	6	1794	c.1475T>A	c.(1474-1476)aTa>aAa	p.I492K	ICAM1_uc010xle.1_Missense_Mutation_p.I270K|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	492					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GCCGCAGTCATAATGGGCACT	0.547000													27	45					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134733640	134733640	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:134733640C>T	uc021qbc.1	-	13	1754	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGTGCCACGCCTTCGCACAGA	0.637000													13	32					0	0	1	0	0
H2BFM	286436	broad.mit.edu	37	X	103294650	103294650	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chrX:103294650A>T	uc004els.2	+	0	135	c.107A>T	c.(106-108)cAg>cTg	p.Q36L		NM_001164416	NP_001157888			Homo sapiens H2B histone family, member M (H2BFM), mRNA.											endometrium(1)|lung(1)|ovary(1)	3						GCCCAGAAGCAGAAGAGGCGA	0.657000													38	37					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7811366	7811366	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr4:7811366T>C	uc011bwk.1	-	8	1302	c.1029A>G	c.(1027-1029)tcA>tcG	p.S343S	AFAP1_uc003gkg.1_Silent_p.S343S	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	343						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTTCCTCAGCTGAGGAGGTCT	0.537000													17	32					0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176798989	176798989	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:176798989C>T	uc003mgh.3	+	14	1799	c.1617C>T	c.(1615-1617)ccC>ccT	p.P539P	RGS14_uc003mgf.3_Silent_p.P538P|RGS14_uc003mgi.3_Silent_p.P309P	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	538					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAAGGGCCCAGCTCCGAGG	0.627000													14	24					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	18					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598199	49598199	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:49598199C>T	uc010rhy.2	+	1	790	c.312C>T	c.(310-312)tcC>tcT	p.S104S	LOC440040_uc009ymb.3_Silent_p.S104S					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		ATGGCTCCTCCTCTTCCTTCT	0.507000													29	57					0	0	1	0	0
C1orf180	439927	broad.mit.edu	37	1	85097342	85097342	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:85097342G>A	uc010ory.1	-	0	88	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	C1orf180_uc001dke.1_Non-coding_Transcript					Homo sapiens chromosome 1 open reading frame 180 (C1orf180), non-coding RNA.																		AAATGGTCGGGTCCTGGCTGA	0.448000													22	30					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106378214	106378214	+	Splice_Site	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr14:106378214A>G	uc021ser.1	-	3389		c.53681_splice	c.e3389+1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron					Parts of antibodies, mostly variable regions.																		CAGGGAATAGAGAGGGTCCAG	0.617000													4	85					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162724591	162724591	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:162724591T>G	uc001gcf.3	+	5	828	c.363T>G	c.(361-363)aaT>aaG	p.N121K	DDR2_uc001gcg.3_Missense_Mutation_p.N121K	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	121	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACAAGATCAATTACAGTCGGG	0.522000													27	43					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140745640	140745640	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:140745640C>T	uc003lju.2	+	0	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.S581S	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	582	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTCGCTCCGCAGAACCTG	0.627000													31	65					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159037	154159037	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chrX:154159037A>C	uc004fmt.3	-	13	3199	c.3028T>G	c.(3028-3030)Ttc>Gtc	p.F1010V		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1010	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTAACTTTGAATAAGGCATTA	0.343000													3	63					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132059234	132059234	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:132059234A>C	uc003qcu.4	+	23	2578	c.2231A>C	c.(2230-2232)aAt>aCt	p.N744T	ENPP3_uc003qcv.3_Missense_Mutation_p.N744T|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	744	Nuclease.		N -> H (in dbSNP:rs36094194).		immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AATGGAGTAAATGTGGTTAGT	0.303000													25	41					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40665927	40665927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr21:40665927G>T	uc002yxk.2	-	7	936	c.641C>A	c.(640-642)tCa>tAa	p.S214*	BRWD1_uc021wjf.1_Nonsense_Mutation_p.S214*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTATGTGTTGACCAAATCTT	0.328000													28	50					3.1745e-13	3.45878e-13	1	1	0
GUF1	60558	broad.mit.edu	37	4	44688034	44688034	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr4:44688034T>C	uc003gww.4	+	6	935	c.728T>C	c.(727-729)aTc>aCc	p.I243T	GUF1_uc010ifz.1_Non-coding_Transcript	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	243					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTGAAAGAATCCCCCCGTGA	0.318000													10	26					0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44612087	44612087	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr3:44612087T>C	uc003cnj.3	+	5	1901	c.1485T>C	c.(1483-1485)taT>taC	p.Y495Y	ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Silent_p.Y495Y|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Silent_p.Y344Y	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	495					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		AGAAACCTTATGAATGCAATG	0.448000													7	65					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577514	179577514	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:179577514C>T	uc021vsy.1	-	90	23731	c.23506G>A	c.(23506-23508)Gat>Aat	p.D7836N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D4497N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8763	Ig-like 60.						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)			GTATCTACATCGAACAACTCC	0.418000													19	46					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315955	125315955	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:125315955C>T	uc011lyx.2	+	0	507	c.507C>T	c.(505-507)acC>acT	p.T169T		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L168P(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGGTGCTAACCAACTGTCCTG	0.532000													18	26					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58121036	58121036	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:58121036G>T	uc002iyk.1	-	19	3451	c.3434C>A	c.(3433-3435)cCa>cAa	p.P1145Q	MIR4737_uc021uba.1_5'Flank|HEATR6_uc010ddk.1_Missense_Mutation_p.P684Q|HEATR6_uc010wos.1_Missense_Mutation_p.P865Q	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	1145							binding	p.A1144P(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTCTCCAGTTGGTGCCTGGAT	0.542000													41	141					3.7052e-28	4.16123e-28	1	1	0
RFPL3	10738	broad.mit.edu	37	22	32754195	32754195	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr22:32754195A>T	uc003amj.3	+	0	342	c.137A>T	c.(136-138)tAt>tTt	p.Y46F	RFPL3_uc010gwn.3_Missense_Mutation_p.Y17F	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	46							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCTCAGACTATCTGGAAAAA	0.522000													37	98					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913652	39913652	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:39913652G>A	uc010xuz.2	+	17	2283	c.1958G>A	c.(1957-1959)gGt>gAt	p.G653D	PLEKHG2_uc010xuy.2_Missense_Mutation_p.G594D|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.G431D	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	653					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATTCCCGAAGGTTCTCGCCTT	0.517000													5	77					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185953350	185953350	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:185953350T>G	uc001grq.1	+	18	3069	c.2840T>G	c.(2839-2841)aTt>aGt	p.I947S	HMCN1_uc001grr.1_Missense_Mutation_p.I288S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	947	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCCTCCATATTGAAAGAGTT	0.398000													3	55					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647312	20647312	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:20647312A>G	uc002rdv.3	+	0	478	c.86A>G	c.(85-87)gAg>gGg	p.E29G		NM_004040	NP_004031	P62745	RHOB_HUMAN	Homo sapiens ras homolog gene family, member B (RHOB), mRNA.	29					Rho protein signal transduction|angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		AGTAAGGACGAGTTCCCCGAG	0.662000													23	53					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973429	29973429	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chrX:29973429A>C	uc004dby.2	+	10	2091	c.1583A>C	c.(1582-1584)aAg>aCg	p.K528T		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	528	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GAGGCCCTGAAGCACACCATC	0.413000													53	57					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651119	1651119	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:1651119C>T	uc001lty.3	+	0	87	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	17				R -> L (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament		p.R17C(4)|p.R17L(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggaggccgtggctccgg	0.692000													4	151					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35792786	35792786	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:35792786T>C	uc003zyd.3	+	0	381	c.381T>C	c.(379-381)tcT>tcC	p.S127S	NPR2_uc010mlb.3_Silent_p.S127S	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	127					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGTGGCCTCTGGTTTTTCGG	0.602000													14	46					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091298	52091298	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:52091298T>C	uc002pxb.3	+	4	2092	c.1714T>C	c.(1714-1716)Tct>Cct	p.S572P	AX748312_uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	572					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CACTTCTAAGTCTCAATTCAA	0.453000													17	40					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41203099	41203099	+	Silent	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:41203099G>A	uc002icq.3	-	19	5545	c.5313C>T	c.(5311-5313)ccC>ccT	p.P1771P	BRCA1_uc010whp.2_Silent_p.P620P|BRCA1_uc010whl.2_Silent_p.P667P|BRCA1_uc010whm.2_Silent_p.P81P|BRCA1_uc002icp.4_Silent_p.P1700P|BRCA1_uc002icu.3_Silent_p.P667P|BRCA1_uc010cyx.3_Silent_p.P1724P|BRCA1_uc002ict.3_Silent_p.P1792P|BRCA1_uc010whn.2_Silent_p.P262P|BRCA1_uc010who.2_Intron	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1771	BRCT 2.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTTGGTGAAGGGCCCATAGC	0.478000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			21	31					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15729747	15729747	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:15729747T>C	uc011lmu.2	+	14	2135	c.2024T>C	c.(2023-2025)cTa>cCa	p.L675P	CCDC171_uc010mih.1_Missense_Mutation_p.L675P|CCDC171_uc003zmd.3_Missense_Mutation_p.L667P|CCDC171_uc003zme.3_Missense_Mutation_p.L582P	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	667																	AAGAAGGAACTAGAGCTGCAG	0.463000													32	72					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020508	2020508	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr8:2020508G>C	uc003wpx.4	+	8	1015	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	293	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGGGAAGGCGAGACGGTCAC	0.602000													8	19					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115221050	115221050	+	Silent	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:115221050A>G	uc001efe.2	-	7	1143	c.1095T>C	c.(1093-1095)taT>taC	p.Y365Y	AMPD1_uc001eff.2_Silent_p.Y361Y	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	332					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.A364S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTTTGGTGCTATAGACCACTC	0.408000													27	50					0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427693	71427693	+	Silent	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chrX:71427693G>T	uc004eaq.1	-	1	1021	c.924C>A	c.(922-924)gcC>gcA	p.A308A	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.A185A	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	308					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TAAATCCCAAGGCTTTTTCTC	0.388000													6	125					3.59834e-05	3.77955e-05	1	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117350	117350	+	RNA	SNP	C	C	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chrGL000205.1:117350C>A	uc002kgk.4	+	0		c.728C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCACCTGGCCTTCTGTGAG	0.577000													5	25					0.184627	0.185901	1	1	0
MGA	23269	broad.mit.edu	37	15	42005518	42005518	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr15:42005518G>C	uc010ucy.2	+	8	3435	c.3254G>C	c.(3253-3255)aGa>aCa	p.R1085T	MGA_uc001zog.1_Missense_Mutation_p.R1085T|MGA_uc010ucz.2_Missense_Mutation_p.R1085T	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1085						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGTTTGAAAAGAAAAGTTGTA	0.458000													22	50					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35698339	35698339	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:35698339T>G	uc003zxt.2	-	54	7706	c.7352A>C	c.(7351-7353)gAg>gCg	p.E2451A		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	2451	I/LWEQ.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding	p.S2450L(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCATTGCCTCCGAGTCCTG	0.542000													4	38					0	0	1	0	0
ASB8	140461	broad.mit.edu	37	12	48543736	48543736	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr12:48543736C>T	uc001rrh.3	-	3	449	c.280G>A	c.(280-282)Gca>Aca	p.A94T	ASB8_uc010slr.2_Missense_Mutation_p.A94T	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 8 (ASB8), mRNA.	94					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TCTTTCTCTGCTGCATAGTGG	0.498000													21	50					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134889753	134889753	+	Silent	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:134889753A>G	uc004cbe.2	-	2	493	c.450T>C	c.(448-450)gcT>gcC	p.A150A	MED27_uc004cbf.2_Silent_p.A150A|MED27_uc011mco.2_Silent_p.A150A|MED27_uc004cbg.4_Silent_p.A150A	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	Homo sapiens mediator complex subunit 27 (MED27), transcript variant 1, mRNA.	150					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTGTGGGCTGAGCCTTTGGTC	0.428000													11	56					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964196	94964196	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr14:94964196A>C	uc001ydj.3	-	2	1335	c.539T>G	c.(538-540)tTt>tGt	p.F180C		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	180					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTGACTGATAAAGTCATTGAT	0.393000													37	38					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887681	9887681	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr18:9887681T>G	uc002koi.4	+	1	1654	c.1205T>G	c.(1204-1206)aTt>aGt	p.I402S	TXNDC2_uc002koh.4_Missense_Mutation_p.I335S|TXNDC2_uc021ugx.1_Missense_Mutation_p.I335S	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	402	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGGAGATTGACATCCCC	0.557000													4	105					0	0	1	0	0
GJD4	219770	broad.mit.edu	37	10	35896876	35896876	+	Silent	SNP	C	C	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:35896876C>A	uc001iyy.1	+	1	593	c.435C>A	c.(433-435)atC>atA	p.I145I		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	Homo sapiens gap junction protein, delta 4, 40.1kDa (GJD4), mRNA.	145					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTACATCATCCACCTCCTCC	0.692000													8	13					5.18039e-06	5.4807e-06	1	1	0
FAM186A	121006	broad.mit.edu	37	12	50747256	50747256	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr12:50747256T>C	uc001rwl.2	-	3	3497	c.3359A>G	c.(3358-3360)gAg>gGg	p.E1120G	FAM186A_uc010smt.1_Missense_Mutation_p.E898G	NM_001145475	NP_001138947	A6NE01	F186A_HUMAN	Homo sapiens family with sequence similarity 186, member A (FAM186A), mRNA.	1120																	GAAAAGGATCTCCAGGGCCTG	0.647000													5	50					0	0	1	0	0
RPS8	6202	broad.mit.edu	37	1	45242407	45242407	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:45242407C>G	uc001cmi.3	+	2	195	c.172C>G	c.(172-174)Ctg>Gtg	p.L58V	SNORD38A_uc009vxi.3_5'Flank|SNORD38B_uc001cml.3_5'Flank	NM_001012	NP_001003	P62241	RS8_HUMAN	Homo sapiens ribosomal protein S8 (RPS8), mRNA.	58					endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					ATACCGTGCCCTGAGGTTGGA	0.547000													12	16					0	0	1	0	0
PCYT2	5833	broad.mit.edu	37	17	79865647	79865647	+	Splice_Site	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:79865647A>G	uc002kcf.2	-	5	601	c.492_splice	c.e5+1	p.Q164_splice	PCYT2_uc010wvb.2_Splice_Site_p.Q132_splice|PCYT2_uc002kce.2_Splice_Site_p.Q86_splice|PCYT2_uc002kch.2_Splice_Site_p.Q164_splice|PCYT2_uc002kci.2_Splice_Site_p.Q105_splice|PCYT2_uc010wvc.2_Splice_Site_p.Q86_splice	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	164	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCGCCGACTCACCTGGCTGCT	0.667000													14	32					0	0	1	0	0
CCDC79	283847	broad.mit.edu	37	16	66804098	66804098	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr16:66804098C>T	uc010viv.2	-	13	1649	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	CCDC79_uc002eqc.1_Non-coding_Transcript|CCDC79_uc002eqd.1_Missense_Mutation_p.D463N	NM_001136505	NP_001129977	Q8NA31	CCD79_HUMAN	Homo sapiens coiled-coil domain containing 79 (CCDC79), mRNA.	463					regulation of transcription, DNA-dependent		DNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						TTATCCTCATCTTCTGCTTTG	0.368000													38	65					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108259	168108259	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:168108259C>T	uc002udx.3	+	8	10446	c.10357C>T	c.(10357-10359)Cat>Tat	p.H3453Y	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H3278Y|XIRP2_uc010fpq.3_Missense_Mutation_p.H3231Y|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3278					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGACTTCAAGCATGCCCCACC	0.408000													52	79					0	0	1	0	0
PKD1L3	342372	broad.mit.edu	37	16	71969289	71969289	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr16:71969289T>C	uc010vmm.2	-	26	4579	c.4579A>G	c.(4579-4581)Atg>Gtg	p.M1527V		NM_181536	NP_853514			Homo sapiens polycystic kidney disease 1-like 3 (PKD1L3), mRNA.											autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TATCGTGCCATGTTTTTCTTA	0.433000													29	45					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37602594	37602594	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr22:37602594A>G	uc003ara.3	-	1	1311	c.1249T>C	c.(1249-1251)Tac>Cac	p.Y417H	SSTR3_uc003arb.3_Missense_Mutation_p.Y417H|SSTR3_uc021wos.1_Missense_Mutation_p.Y417H	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	417					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CCCTACAGGTAGCTGATGCGC	0.652000													3	11					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400827	85400827	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr15:85400827A>T	uc002ble.3	+	5	3631	c.3464A>T	c.(3463-3465)gAc>gTc	p.D1155V		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1155					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGAGCTGTGACCCTGGCCTC	0.627000													15	37					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887670	9887670	+	Silent	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr18:9887670A>G	uc002koi.4	+	1	1643	c.1194A>G	c.(1192-1194)ccA>ccG	p.P398P	TXNDC2_uc002koh.4_Silent_p.P331P|TXNDC2_uc021ugx.1_Silent_p.P331P	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	398	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGCCATCCCACCCAAGGAGA	0.562000													8	111					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65162707	65162707	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:65162707T>C	uc010wqk.2	-	14	1969	c.1782A>G	c.(1780-1782)caA>caG	p.Q594Q	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.Q594Q	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATCGATTTAATTGAAACTGAA	0.393000													9	95					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	153750140	153750140	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr7:153750140G>A	uc003wlk.3	+	0	364	c.235G>A	c.(235-237)Gag>Aag	p.E79K	DPP6_uc003wli.3_Intron|DPP6_uc003wlj.3_Missense_Mutation_p.E79K	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	79					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CGATGGTGACGAGGAGGACGT	0.776000													4	7					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40660678	40660678	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr15:40660678C>G	uc001zlk.1	+	7	2454	c.2365C>G	c.(2365-2367)Cct>Gct	p.P789A		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	789					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCTCTGGACCCTCGTAGCAA	0.687000													18	42					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154858036	154858036	+	Silent	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr3:154858036A>G	uc010hvr.1	+	9	1123	c.912A>G	c.(910-912)acA>acG	p.T304T	MME_uc003fab.1_Silent_p.T304T|MME_uc003fac.1_Silent_p.T304T|MME_uc003fad.1_Silent_p.T304T|MME_uc003fae.1_Silent_p.T304T	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	304				T -> R (in Ref. 4; AAA51915).	cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACAAGATGACATTGGCCCAGA	0.323000													97	182					0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520234	131520234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:131520234C>T	uc021voy.1	+	0	589	c.589C>T	c.(589-591)Cga>Tga	p.R197*	FAM123C_uc002trw.2_Nonsense_Mutation_p.R197*|FAM123C_uc010fmv.2_Nonsense_Mutation_p.R197*|FAM123C_uc010fms.1_Nonsense_Mutation_p.R197*|FAM123C_uc010fmt.1_Nonsense_Mutation_p.R197*|FAM123C_uc010fmu.1_Nonsense_Mutation_p.R197*	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	197								p.R197Q(2)|p.R197*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TGGGGGGCGGCGAAGCAAAGC	0.667000													4	28					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128065	152128065	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:152128065C>T	uc001ezs.1	-	2	1575	c.1510G>A	c.(1510-1512)Gga>Aga	p.G504R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	504	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGGCCTTGTCCGTCTGGCTGA	0.502000													4	76					0	0	1	0	0
C10orf11	83938	broad.mit.edu	37	10	77818509	77818509	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:77818509A>G	uc001jxi.3	+	3	615	c.400A>G	c.(400-402)Aga>Gga	p.R134G		NM_032024	NP_114413	Q9H2I8	CJ011_HUMAN	Homo sapiens chromosome 10 open reading frame 11 (C10orf11), mRNA.	134	LRRCT.									endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GGCGTTGGTCAGAGGAGTCTT	0.488000													12	66					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38798102	38798102	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr15:38798102T>C	uc001zke.4	-	9	1440	c.1262A>G	c.(1261-1263)tAc>tGc	p.Y421C	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.Y283C|RASGRP1_uc010bbg.3_Missense_Mutation_p.Y283C|RASGRP1_uc001zkd.4_Missense_Mutation_p.Y421C	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	421	Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ATCCTCAGTGTAGTAAAGATC	0.448000													21	41					0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14738464	14738464	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr16:14738464C>T	uc002dco.3	+	1	542	c.261C>T	c.(259-261)ctC>ctT	p.L87L	BFAR_uc010uzh.2_Nonsense_Mutation_p.Q28*	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	87					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GTATTCTCCTCAGGTAATGTT	0.408000													9	20					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49674876	49674876	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:49674876C>T	uc002pmw.3	+	7	1008	c.900C>T	c.(898-900)ctC>ctT	p.L300L	TRPM4_uc010emu.3_Silent_p.L300L|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Silent_p.L126L|TRPM4_uc010emv.3_Silent_p.L185L|TRPM4_uc010yal.2_Silent_p.L17L	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	300					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CATGTCTCCTCGTGGCTGGCT	0.592000													19	42					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	33998825	33998825	+	Silent	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:33998825A>G	uc003jij.3	-	3	756	c.660T>C	c.(658-660)taT>taC	p.Y220Y	AMACR_uc003jig.3_Silent_p.Y220Y|AMACR_uc003jih.3_Missense_Mutation_p.Y167H|AMACR_uc003jik.2_Missense_Mutation_p.Y167H|AMACR_uc003jil.2_Silent_p.Y220Y	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	220					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TGTAAGTCGTATAGAAAGGTG	0.458000													33	61					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	89037541	89037541	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:89037541T>G	uc002ste.3	+	7	827	c.786T>G	c.(784-786)ttT>ttG	p.F262L		NM_144563	NP_653164	P49247	RPIA_HUMAN	Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA.	262					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				ACTGGAAGTTTGACCGGGTAC	0.438000													9	86					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766709	64766709	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:64766709C>T	uc003jtp.3	-	2	1172	c.358G>A	c.(358-360)Gga>Aga	p.G120R	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	120					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V120V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CACTGGGGTCCATCTTTCCCC	0.373000													19	55					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46666907	46666907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:46666907C>T	uc001nda.3	+	2	716	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	ATG13_uc009yld.3_Nonsense_Mutation_p.Q30*|ATG13_uc001ndb.3_Nonsense_Mutation_p.Q30*|ATG13_uc001ncz.3_Nonsense_Mutation_p.Q30*|ATG13_uc001ndc.3_Nonsense_Mutation_p.Q30*|ATG13_uc010rgv.2_5'UTR	NM_001205119	NP_001192048	O75143	ATG13_HUMAN	Homo sapiens ATG13 autophagy related 13 homolog (S. cerevisiae) (ATG13), transcript variant 3, mRNA.	30					autophagic vacuole assembly	ULK1-ATG13-FIP200 complex|cytosol|pre-autophagosomal structure	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGTGATTGTCCAGGCTCGGCT	0.373000													4	73					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21936724	21936724	+	Silent	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:21936724G>C	uc001bev.3	-	10	906	c.888C>G	c.(886-888)gtC>gtG	p.V296V	RAP1GAP_uc001bew.3_Silent_p.V360V|RAP1GAP_uc001bey.3_Silent_p.V296V|RAP1GAP_uc001bex.3_Silent_p.V296V	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	296	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CATCCTGGAAGACCACAGCCA	0.637000													47	109					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427730	27427730	+	Silent	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:27427730G>C	uc010eyv.1	-	8	1126	c.804C>G	c.(802-804)ctC>ctG	p.L268L	SLC5A6_uc002rjd.3_Silent_p.L268L	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	268					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CGTATAAGGAGAGCATCATGA	0.587000													9	15					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1268594	1268594	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr16:1268594C>A	uc002cks.3	+	32	6078	c.5830C>A	c.(5830-5832)Cac>Aac	p.H1944N	CACNA1H_uc002ckt.3_Missense_Mutation_p.H1938N|CACNA1H_uc002cku.3_Missense_Mutation_p.H650N|CACNA1H_uc010brj.3_Missense_Mutation_p.H655N|CACNA1H_uc002ckv.3_Missense_Mutation_p.H644N	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1944					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)	CTCGGCGCCCCACCCCCGCCC	0.662000													25	52					2.44723e-14	2.70679e-14	1	1	0
POM121C	100101267	broad.mit.edu	37	7	75070316	75070316	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr7:75070316A>C	uc003udk.4	-	4	1028	c.143T>G	c.(142-144)cTg>cGg	p.L48R	POM121C_uc003udl.1_Non-coding_Transcript|POM121C_uc010lde.1_Missense_Mutation_p.L290R	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	290	Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GAGGGCACTCAGTACAGTCTC	0.438000													28	78					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145640398	145640398	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr8:145640398G>T	uc003zcq.3	-	3	864	c.764C>A	c.(763-765)cCc>cAc	p.P255H	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'UTR|SLC39A4_uc003zcp.3_Missense_Mutation_p.P230H	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	255						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GCTGATGAGGGGCACAGGGTC	0.672000													14	22					3.27435e-08	3.51511e-08	1	1	0
ATP13A2	23400	broad.mit.edu	37	1	17318334	17318334	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:17318334G>T	uc001baa.2	-	19	2336	c.2146C>A	c.(2146-2148)Ctg>Atg	p.L716M	ATP13A2_uc001bac.2_Missense_Mutation_p.L711M|ATP13A2_uc001bab.2_Missense_Mutation_p.L711M	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	716					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.D715Y(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGAGGCTCAGGTCTCCTTCC	0.632000													14	42					1.02788e-11	1.11164e-11	1	1	0
DDX26B	203522	broad.mit.edu	37	X	134706893	134706893	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chrX:134706893G>T	uc004eyw.4	+	10	1804	c.1441G>T	c.(1441-1443)Gca>Tca	p.A481S	DDX26B_uc004eyx.4_Missense_Mutation_p.A82S	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	481										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGAAACTGCACTTAGACT	0.338000													4	187					0.00909568	0.00922201	1	1	0
INO80B	83444	broad.mit.edu	37	2	74684908	74684908	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:74684908T>A	uc010yrs.2	+	3	1243	c.1042T>A	c.(1042-1044)Tgt>Agt	p.C348S	INO80B_uc002slg.3_Missense_Mutation_p.C330S|INO80B_uc010yrr.2_Missense_Mutation_p.C302S|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	330					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CCAGGCACTCTGTAGTCTTCA	0.682000													7	15					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233613	84233613	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:84233613C>T	uc003pjz.3	+	1	693	c.453C>T	c.(451-453)tcC>tcT	p.S151S	PRSS35_uc010kbm.3_Silent_p.S151S|PRSS35_uc021zce.1_Silent_p.S151S	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	151	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGAAGCTTTCCACGGGCTGTA	0.463000													37	69					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25266603	25266603	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr16:25266603C>G	uc002dod.4	-	1	917	c.510G>C	c.(508-510)gaG>gaC	p.E170D	ZKSCAN2_uc010vcl.2_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.E170D	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	170					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R169L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCCAGGTTCCTCCCGAGACA	0.622000													9	28					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13839483	13839483	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:13839483A>C	uc003jfd.2	-	34	5906	c.5864T>G	c.(5863-5865)aTa>aGa	p.I1955R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1955	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V1954V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGTGGAGTTATTACAAGCCT	0.418000									Kartagener syndrome				17	33					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754194	32754194	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr22:32754194T>A	uc003amj.3	+	0	341	c.136T>A	c.(136-138)Tat>Aat	p.Y46N	RFPL3_uc010gwn.3_Missense_Mutation_p.Y17N	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	46							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CTGCTCAGACTATCTGGAAAA	0.522000													37	98					0	0	1	0	0
UBTD2	92181	broad.mit.edu	37	5	171661228	171661228	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr5:171661228C>T	uc003mbp.1	-	1	331	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA.	69						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCCAAATCTCTTTCCGGCCT	0.438000													28	53					0	0	1	0	0
ERLIN1	10613	broad.mit.edu	37	10	101935785	101935785	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:101935785G>C	uc001kqn.4	-	4	698	c.347C>G	c.(346-348)aCc>aGc	p.T116S	ERLIN1_uc001kqo.4_Missense_Mutation_p.T116S|ERLIN1_uc010qpm.2_Missense_Mutation_p.T32S	NM_006459	NP_006450	O75477	ERLN1_HUMAN	Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA.	114					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GAAGATTAAGGTCTTGTCATA	0.393000													31	57					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98744160	98744160	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:98744160A>C	uc001kmv.3	+	0	3120	c.3013A>C	c.(3013-3015)Aat>Cat	p.N1005H		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	1005										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAATATTCCAATATTCGAGG	0.453000													18	38					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207655323	207655323	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:207655323T>C	uc002vbu.3	+	10	2336	c.1926T>C	c.(1924-1926)tcT>tcC	p.S642S	FASTKD2_uc002vbv.3_Silent_p.S642S|FASTKD2_uc002vbx.3_Silent_p.S642S|FASTKD2_uc002vbw.1_3'UTR	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	642	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TTTCCAGATCTGCTTATTGTT	0.363000													13	23					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1805513	1805513	+	Silent	SNP	T	T	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:1805513T>C	uc002qxe.3	-	22	4058	c.3231A>G	c.(3229-3231)gaA>gaG	p.E1077E	MYT1L_uc002qxd.3_Silent_p.E1075E|MYT1L_uc010ewk.3_Silent_p.E73E	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1077					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGAATTGGATTCATTTAGCT	0.333000													18	46					0	0	1	0	0
EXOSC4	54512	broad.mit.edu	37	8	145134932	145134932	+	Silent	SNP	C	C	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr8:145134932C>T	uc003zau.3	+	1	368	c.258C>T	c.(256-258)cgC>cgT	p.R86R	GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.3_5'Flank	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	Homo sapiens exosome component 4 (EXOSC4), mRNA.	86					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTGAGCGCAAGCGACGGC	0.627000													36	66					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23198538	23198538	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr8:23198538G>A	uc003xdh.1	-	3	1049	c.710C>T	c.(709-711)cCt>cTt	p.P237L	LOC100507156_uc003xdj.3_Splice_Site	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	237	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTCTCCCCAGGGAAGCCAAA	0.537000													12	24					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57467163	57467163	+	Silent	SNP	G	G	C			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:57467163G>C	uc003pdx.3	+	11	1188	c.1101G>C	c.(1099-1101)ctG>ctC	p.L367L		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	368					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TCAGTTGCCTGAAGATTATTC	0.438000													5	114					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72513573	72513573	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr10:72513573G>T	uc001jrg.3	+	18	2756	c.2756G>T	c.(2755-2757)tGg>tTg	p.W919L	ADAMTS14_uc001jrh.3_Missense_Mutation_p.W916L	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	916	TSP type-1 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACGGAGGAGTGGGGTGCCTGC	0.622000													7	26					0.000157383	0.000164128	1	1	0
GCK	2645	broad.mit.edu	37	7	44185276	44185276	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr7:44185276C>G	uc003tkl.2	-	8	1543	c.1073G>C	c.(1072-1074)cGa>cCa	p.R358P	GCK_uc003tkj.1_Missense_Mutation_p.R357P|GCK_uc003tkk.1_Missense_Mutation_p.R359P	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	358					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGTCGAGGGTCGCAGCCCCAG	0.697000													22	38					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51452313	51452313	+	Splice_Site	SNP	T	T	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr3:51452313T>G	uc003dbe.2	-	18	3630	c.3445_splice	c.e18-1	p.I1149_splice	VPRBP_uc021wys.1_Splice_Site_p.I1148_splice|VPRBP_uc003dbf.1_Splice_Site_p.I478_splice	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	1202	WD repeat-like region.				interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATCATAAATCTTTAGAGAAGA	0.373000													6	60					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15190552	15190552	+	Splice_Site	SNP	C	C	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:15190552C>G	uc003zlr.2	-	11	1142	c.1105_splice	c.e11+1	p.G369_splice	TTC39B_uc003zlq.2_Splice_Site_p.G272_splice|TTC39B_uc011lmp.2_Splice_Site_p.G204_splice|TTC39B_uc010mie.2_Splice_Site_p.G367_splice|TTC39B_uc011lmr.2_Splice_Site_p.G300_splice|TTC39B_uc011lmq.2_Splice_Site_p.G369_splice|TTC39B_uc010mif.2_Splice_Site_p.G369_splice|TTC39B_uc003zls.1_Splice_Site_p.G204_splice|TTC39B_uc010mig.1_Splice_Site_p.G272_splice|TTC39B_uc011lms.2_Splice_Site|TTC39B_uc003zlp.2_5'Flank	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	303							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CAGATCTTACCAAGTATTAGG	0.453000													5	50					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58121740	58121740	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr3:58121740A>G	uc003djj.2	+	27	4871	c.4706A>G	c.(4705-4707)cAt>cGt	p.H1569R	FLNB_uc010hne.2_Missense_Mutation_p.H1600R|FLNB_uc003djk.2_Missense_Mutation_p.H1569R|FLNB_uc010hnf.2_Missense_Mutation_p.H1569R|FLNB_uc003djl.2_Missense_Mutation_p.H1400R|FLNB_uc003djm.2_Missense_Mutation_p.H1400R	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1569					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.H1569R(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCATTGTCCATGACAATAAA	0.453000													4	114					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158358486	158358486	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr6:158358486C>A	uc003qqv.1	+	14	1637	c.1464C>A	c.(1462-1464)ttC>ttA	p.F488L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	488	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.F488F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		ATCTCCATTTCCTGATGGAAT	0.378000													19	56					5.35267e-07	5.7043e-07	1	1	0
CSF3R	1441	broad.mit.edu	37	1	36939407	36939408	+	In_Frame_Ins	INS	-	-	GTC	rs145989033		TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:36939407_36939408insGTC	uc001caw.2	-	4	1026_1027	c.442_443insGAC	c.(442-444)cct>cGACct	p.147_148insR	CSF3R_uc001cav.2_In_Frame_Ins_p.147_148insR|CSF3R_uc001cax.2_In_Frame_Ins_p.147_148insR	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	147	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGGGTCTCAGGTCCTGGCTCC	0.599													25	53	---	---	---	---					
CYP4X1	260293	broad.mit.edu	37	1	47489659	47489659	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:47489659delA	uc001cqt.3	+	0	420	c.170delA	c.(169-171)cacfs	p.H57fs	CYP4X1_uc001cqr.3_Intron|CYP4X1_uc001cqs.3_Intron	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	57						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTCCTTGGGCACCagaaggta	0.682													25	55	---	---	---	---					
DDR2	4921	broad.mit.edu	37	1	162750246	162750246	+	Splice_Site	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr1:162750246delA	uc001gcf.3	+	19	3244	c.2779_splice	c.e19+1		DDR2_uc001gcg.3_Splice_Site|AF268386_uc001gch.1_5'Flank	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTAAAAAAGGAAAAAAAAAAG	0.338													2	4	---	---	---	---					
SMEK2	57223	broad.mit.edu	37	2	55806886	55806886	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:55806886delA	uc002rzc.3	-	8	2089	c.1397delT	c.(1396-1398)ttcfs	p.F466fs	SMEK2_uc002rzb.3_Frame_Shift_Del_p.F466fs|SMEK2_uc002rzd.3_Frame_Shift_Del_p.F466fs|SMEK2_uc002rza.3_Frame_Shift_Del_p.F342fs	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	466						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGGTTGTAGAAAAAATTTAG	0.303													21	48	---	---	---	---					
SLC25A12	8604	broad.mit.edu	37	2	172700922	172700937	+	Frame_Shift_Del	DEL	CGGTTATGCCCAAAAT	CGGTTATGCCCAAAAT	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr2:172700922_172700937delCGGTTATGCCCAAAAT	uc002uhh.2	-	4	496_511	c.407_422delATTTTGGGCATAACCG	c.(406-423)cattttgggcataaccggfs	p.H136fs	SLC25A12_uc010fqh.2_Frame_Shift_Del_p.H29fs|SLC25A12_uc010zdv.1_Non-coding_Transcript	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	136	EF-hand 3.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ATGCTTCTTCCGGTTATGCCCAAAATGCAGTCGGAT	0.352													13	88	---	---	---	---					
SCIN	85477	broad.mit.edu	37	7	12680013	12680013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr7:12680013delT	uc003ssn.4	+	10	1662	c.1452delT	c.(1450-1452)agtfs	p.S484fs	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Frame_Shift_Del_p.S237fs	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	484	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACCTACTGAGTTTGTTCAAAG	0.453													17	34	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39504216	39504216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr7:39504216delA	uc003thb.2	+	10	2150	c.2007delA	c.(2005-2007)ttafs	p.L669fs	POU6F2_uc022acb.1_Frame_Shift_Del_p.L633fs	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	669					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TTAAACGCTTAAAACAGCACG	0.453													9	32	---	---	---	---					
NPR2	4882	broad.mit.edu	37	9	35800822	35800822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr9:35800822delC	uc003zyd.3	+	5	1335	c.1335delC	c.(1333-1335)gacfs	p.D445fs	NPR2_uc010mlb.3_Frame_Shift_Del_p.D445fs	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	445					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	p.D444D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACTTGGACGACCCATCCTGTG	0.582													21	61	---	---	---	---					
PVRL1	5818	broad.mit.edu	37	11	119545966	119545968	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr11:119545966_119545968delGAA	uc001pwv.3	-	4	1076_1078	c.904_906delTTC	c.(904-906)ttcdel	p.F302del	PVRL1_uc001pwu.1_In_Frame_Del_p.F302del|PVRL1_uc001pww.3_In_Frame_Del_p.F302del	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	302	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGGGTCCCTTGAAGAAGAGGGTT	0.567													7	105	---	---	---	---					
GALNT6	11226	broad.mit.edu	37	12	51758036	51758036	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr12:51758036delA	uc001ryk.2	-	4	1143	c.918delT	c.(916-918)tttfs	p.F306fs	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Frame_Shift_Del_p.F306fs	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	306					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGCGAACTCAAAAGTATTAA	0.577													35	76	---	---	---	---					
RGS6	9628	broad.mit.edu	37	14	72939649	72939649	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr14:72939649delC	uc001xna.4	+	8	1129	c.606delC	c.(604-606)gtcfs	p.V202fs	RGS6_uc021rvv.1_Frame_Shift_Del_p.V167fs|RGS6_uc010ttn.2_Frame_Shift_Del_p.V202fs|RGS6_uc021rvw.1_Frame_Shift_Del_p.V202fs|RGS6_uc021rvx.1_Frame_Shift_Del_p.V202fs|RGS6_uc021rvy.1_Frame_Shift_Del_p.V202fs|RGS6_uc021rvz.1_Frame_Shift_Del_p.V202fs|RGS6_uc001xmy.4_Frame_Shift_Del_p.V202fs|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Frame_Shift_Del_p.V202fs|RGS6_uc021rwa.1_Frame_Shift_Del_p.V202fs|RGS6_uc021rwb.1_Frame_Shift_Del_p.V202fs|RGS6_uc010ttp.1_Frame_Shift_Del_p.V133fs|RGS6_uc021rwc.1_Frame_Shift_Del_p.V63fs|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	202					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTTGGGATGTCCACAGGCCTG	0.373													71	79	---	---	---	---					
CEP152	22995	broad.mit.edu	37	15	49074426	49074426	+	Splice_Site	DEL	C	C	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr15:49074426delC	uc001zwz.3	-	11	1515	c.1322_splice	c.e11-1	p.G441_splice	CEP152_uc001zwy.3_Splice_Site_p.G441_splice|CEP152_uc001zxa.2_Splice_Site_p.G348_splice	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	441					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTTGTACTGACCCTGCAGAGG	0.443													10	21	---	---	---	---					
STARD3	10948	broad.mit.edu	37	17	37814678	37814685	+	Frame_Shift_Del	DEL	TGGCTACC	TGGCTACC	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr17:37814678_37814685delTGGCTACC	uc002hsd.3	+	5	653_660	c.450_457delTGGCTACC	c.(448-459)tttggctacctgfs	p.F150fs	STARD3_uc010weg.2_3'UTR|STARD3_uc010wei.2_Frame_Shift_Del_p.L146fs|STARD3_uc002hse.3_Frame_Shift_Del_p.F132fs|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_Frame_Shift_Del_p.F16fs	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	150	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGGGGCATTTGGCTACCTGCTCCCCAT	0.582													14	37	---	---	---	---					
CACNA1A	773	broad.mit.edu	37	19	13418985	13418985	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr19:13418985delA	uc002mwy.3	-	13	2098	c.1862delT	c.(1861-1863)ttcfs	p.F621fs	CACNA1A_uc010dzc.2_Frame_Shift_Del_p.F147fs|CACNA1A_uc010xnd.2_Frame_Shift_Del_p.F621fs|CACNA1A_uc021ups.1_Frame_Shift_Del_p.F621fs|CACNA1A_uc010xne.2_Frame_Shift_Del_p.F621fs|CACNA1A_uc010dze.2_Frame_Shift_Del_p.F621fs|CACNA1A_uc021upt.1_Frame_Shift_Del_p.F622fs	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	622					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AATGAACAGGAAAAGGAGAAA	0.542													42	86	---	---	---	---					
NFATC2	4773	broad.mit.edu	37	20	50051812	50051813	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-B1-A655-01A-11D-A31Z-10	TCGA-B1-A655-10A-01D-A31X-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10597e71-58d4-4013-97c4-efe9f0d395ea	4f069099-30a3-4559-b812-caa5ee9002f9	g.chr20:50051812_50051813delGC	uc002xwd.3	-	7	2164_2165	c.1944_1945delGC	c.(1942-1947)aagcatfs	p.K648fs	NFATC2_uc002xwc.3_Frame_Shift_Del_p.K648fs|NFATC2_uc010zyv.2_Frame_Shift_Del_p.K429fs|NFATC2_uc010zyw.2_Frame_Shift_Del_p.K429fs|NFATC2_uc002xwe.3_Frame_Shift_Del_p.K628fs|NFATC2_uc010zyx.2_Frame_Shift_Del_p.K628fs|NFATC2_uc010zyy.2_Frame_Shift_Del_p.K429fs|NFATC2_uc010zyz.2_Frame_Shift_Del_p.K429fs	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	648					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTGCGGATATGCTTGTTCCGAT	0.436													25	59	---	---	---	---					
