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
DNAJC16	23341	broad.mit.edu	37	1	15873341	15873341	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:15873341C>T	uc001aws.3	+	5	959	c.839C>T	c.(838-840)aCg>aTg	p.T280M	DNAJC16_uc001awr.1_Missense_Mutation_p.T280M|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	280					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	p.T280T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTGACCAAACGCCCATTGTG	0.328												
MACF1	23499	broad.mit.edu	37	1	39907987	39907987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:39907987C>T	uc021olw.1	+	40	14272	c.14272C>T	c.(14272-14274)Cga>Tga	p.R4758*	MACF1_uc021ols.1_Nonsense_Mutation_p.R4253*|MACF1_uc021olt.1_Nonsense_Mutation_p.R4256*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6323					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATTGCCCACCGACAGGTAAG	0.443												
KCNQ4	9132	broad.mit.edu	37	1	41284177	41284177	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:41284177A>G	uc001cgh.2	+	4	615	c.533_splice	c.e4-1	p.D178_splice	KCNQ4_uc001cgi.2_Splice_Site_p.D178_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	178					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GCCCCTGCAGACTTCATCGTG	0.701												
MYSM1	114803	broad.mit.edu	37	1	59141202	59141202	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:59141202C>T	uc009wab.2	-	9	1464	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	481					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TCTTTTCTGTCTCTGATTCGT	0.408												
GJA5	2702	broad.mit.edu	37	1	147230552	147230552	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:147230552G>A	uc021ovl.1	-	0	795	c.795C>T	c.(793-795)ccC>ccT	p.P265P	GJA5_uc001eps.1_Silent_p.P265P|GJA5_uc001ept.1_Silent_p.P265P	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	265					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.P265P(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GATTAAAGTCGGGGGGTGGTG	0.532												
PRPF3	9129	broad.mit.edu	37	1	150318611	150318611	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:150318611G>A	uc001eum.4	+	13	1921	c.1759_splice	c.e13+1	p.G587_splice	PRPF3_uc009wlp.2_Splice_Site|PRPF3_uc010pca.2_Splice_Site_p.G546_splice|PRPF3_uc010pcb.2_Splice_Site_p.G538_splice|PRPF3_uc009wlq.1_Splice_Site	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	587					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TAGTGGAAGGGGGTGAGTCTG	0.488												
FAM5C	339479	broad.mit.edu	37	1	190234152	190234152	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:190234152C>T	uc001gse.1	-	3	693	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	FAM5C_uc010pot.1_Missense_Mutation_p.R52Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	154						extracellular region		p.K153Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCTCAACTTCCGCTTGTCCAC	0.388												
LYST	1130	broad.mit.edu	37	1	235922440	235922440	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:235922440C>T	uc001hxj.2	-	22	6888	c.6713G>A	c.(6712-6714)cGa>cAa	p.R2238Q	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2238					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTGTGGCTTCGCTGGAAGGA	0.527												
HSPA14	51182	broad.mit.edu	37	10	14891809	14891809	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr10:14891809G>A	uc001inf.3	+	6	608	c.467_splice	c.e6+1	p.G156_splice	HSPA14_uc010qbw.2_Missense_Mutation_p.G156R	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	156					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AAATGCTCTTGGGTAAGTATA	0.338												
PTEN	5728	broad.mit.edu	37	10	89720650	89720650	+	Splice_Site	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr10:89720650G>A	uc001kfb.3	+	8	1834	c.802_splice	c.e8-1	p.D268_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	268	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		tttttttttAGGACAAAATGT	0.264		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
MUC2	4583	broad.mit.edu	37	11	1084747	1084747	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:1084747C>T	uc001lsx.1	+	19	2569	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	848						inner mucus layer|outer mucus layer	protein binding			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)	CAAGAGAGGACGCTGGGTGTG	0.602												
NELL1	4745	broad.mit.edu	37	11	21596532	21596532	+	Silent	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:21596532T>C	uc009yid.3	+	20	2634	c.2481T>C	c.(2479-2481)tgT>tgC	p.C827C	NELL1_uc010rdp.2_Silent_p.C512C|NELL1_uc001mqe.3_Silent_p.C799C|NELL1_uc001mqf.3_Silent_p.C752C|NELL1_uc010rdo.2_Silent_p.C742C|NELL1_uc001mqh.3_Silent_p.C344C	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	799					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAAGAGTCTGTTGTTCTGTGG	0.353												
OR5D18	219438	broad.mit.edu	37	11	55587476	55587476	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:55587476T>C	uc010rin.2	+	0	371	c.371T>C	c.(370-372)tTc>tCc	p.F124S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TATGACCGCTTCGTGGCCATT	0.458												
PANX3	116337	broad.mit.edu	37	11	124489386	124489386	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:124489386A>G	uc001qah.3	+	3	734	c.734A>G	c.(733-735)aAg>aGg	p.K245R		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	245					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGCTCCATCAAGACAGGGCTG	0.488												
ABCC9	10060	broad.mit.edu	37	12	21995285	21995285	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:21995285A>T	uc001rfh.3	-	26	3456	c.3436T>A	c.(3436-3438)Ttt>Att	p.F1146I	ABCC9_uc001rfi.1_Missense_Mutation_p.F1146I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1146	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATAAAATAAAAGGCAACACCA	0.438												
ITPR2	3709	broad.mit.edu	37	12	26808744	26808744	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:26808744C>T	uc001rhg.3	-	19	2903	c.2486G>A	c.(2485-2487)aGg>aAg	p.R829K		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	829					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGCAAATTTCCTCTTCATATC	0.313												
ADAMTS20	80070	broad.mit.edu	37	12	43771195	43771195	+	Silent	SNP	G	G	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:43771195G>C	uc010skx.2	-	31	4968	c.4968C>G	c.(4966-4968)gcC>gcG	p.A1656A		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1656	TSP type-1 15.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCCAAGTGGCCAAATGCA	0.403												
SUDS3	64426	broad.mit.edu	37	12	118841310	118841310	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:118841310A>G	uc001twz.3	+	9	930	c.791A>G	c.(790-792)tAt>tGt	p.Y264C		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.	264					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAACTGTACTATGACAAAAGA	0.483												
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Nonsense_Mutation	SNP	C	C	T	rs3092891		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr13:48953730C>T	uc001vcb.3	+	14	1499	c.1333_splice	c.e14-1	p.R445_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTGTAGCGATACAAACT	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
GOLGA8DP	100132979	broad.mit.edu	37	15	22709699	22709699	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:22709699T>A	uc010axw.2	-	9	1086	c.188A>T	c.(187-189)aAg>aTg	p.K63M	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.K63M|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		CTTCTTCTCCTTCTTCAACGA	0.557												
THBS1	7057	broad.mit.edu	37	15	39874516	39874516	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:39874516G>A	uc001zkh.3	+	2	369	c.190G>A	c.(190-192)Gcc>Acc	p.A64T		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	64	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CATCGAGGATGCCAACCTGAT	0.612												
CDAN1	146059	broad.mit.edu	37	15	43022940	43022940	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:43022940C>T	uc001zql.3	-	13	2147	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Missense_Mutation_p.G3R	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	677						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAGCAGAGTCCGCACATCCAG	0.647												
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	Missense_Mutation	SNP	C	C	G	rs56290535	by1000genomes	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:78208916C>G	uc010bky.2	-	13	1581	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	LOC645752_uc010umq.1_5'Flank|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TCCAGATGTTCTCCTCCATCT	0.627												
ZCCHC14	23174	broad.mit.edu	37	16	87448889	87448889	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr16:87448889G>T	uc002fjz.1	-	8	1084	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.L129M	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	353					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTTTTCCAGCTCCAGCTGG	0.423												
PRPF8	10594	broad.mit.edu	37	17	1577829	1577829	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:1577829T>C	uc002fte.3	-	20	3320	c.3206A>G	c.(3205-3207)aAt>aGt	p.N1069S		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1069						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.N1069D(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAGAAAGTCATTTGGCATCTG	0.507												
ALDH3A1	218	broad.mit.edu	37	17	19644516	19644516	+	Missense_Mutation	SNP	C	C	T	rs140108064	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:19644516C>T	uc002gwk.3	-	3	1311	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	ALDH3A1_uc010cqu.3_Missense_Mutation_p.A233T|ALDH3A1_uc010vzd.2_Missense_Mutation_p.A233T|ALDH3A1_uc002gwj.3_Missense_Mutation_p.A233T|ALDH3A1_uc010cqv.3_Missense_Mutation_p.A233T|ALDH3A1_uc002gwl.1_Missense_Mutation_p.A160T			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	233					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TTCCCCCAGGCGATGCGTCTG	0.537												
SEZ6	124925	broad.mit.edu	37	17	27287691	27287691	+	Splice_Site	SNP	T	T	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:27287691T>A	uc002hdp.2	-	7	1604	c.1410_splice	c.e7-1	p.R470_splice	SEZ6_uc002hdm.2_Splice_Site|SEZ6_uc010cry.1_Splice_Site_p.R470_splice|SEZ6_uc002hdq.1_Splice_Site_p.R345_splice	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	470	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATGATGAGCCTGAACCAGGAG	0.592												
KRT9	3857	broad.mit.edu	37	17	39724628	39724628	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:39724628G>A	uc002hxe.4	-	5	1246	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	394	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.A393V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTCTTCTCCAGAGCTGCTTTC	0.532												
C19orf40	91442	broad.mit.edu	37	19	33464993	33464993	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr19:33464993G>A	uc002nud.4	+	3	389	c.271G>A	c.(271-273)Gtt>Att	p.V91I	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	91					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					AATTGTAGTCGTTGAAAAAAC	0.418								Direct reversal of damage				
DMRTC2	63946	broad.mit.edu	37	19	42352997	42352997	+	Silent	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr19:42352997C>T	uc010xwe.2	+	4	665	c.582C>T	c.(580-582)tgC>tgT	p.C194C	DMRTC2_uc002orr.1_Silent_p.C71C|DMRTC2_uc002ors.3_Silent_p.C194C	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	194	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CAGTGGTGTGCCGCCTGCTGT	0.567												
FBXO41	150726	broad.mit.edu	37	2	73493658	73493658	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr2:73493658G>A	uc021vjh.1	-	1	1148	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	353						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGCGCTGGGCGTGCTGCCACA	0.692												
SCN7A	6332	broad.mit.edu	37	2	167328840	167328840	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr2:167328840C>T	uc002udu.2	-	4	689	c.559G>A	c.(559-561)Gta>Ata	p.V187I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	187					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V187I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AACACAGTTACGCTGAAATCG	0.338												
CD93	22918	broad.mit.edu	37	20	23065459	23065459	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr20:23065459G>A	uc002wsv.3	-	0	1519	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	457	EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGCACCCAGCCTGGCAGGC	0.632												
TOP1	7150	broad.mit.edu	37	20	39704846	39704848	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr20:39704846_39704848delAGG	uc002xjl.3	+	3	437_439	c.191_193delAGG	c.(190-195)aaggag>aag	p.E65del	TOP1_uc010gge.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	65	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	cacaaagagaaggagaagaccaa	0.374			T	NUP98	AML*							
DCLK3	85443	broad.mit.edu	37	3	36779849	36779850	+	Frame_Shift_Ins	INS	-	-	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:36779849_36779850insC	uc003cgi.2	-	1	792_793	c.301_302insG	c.(301-303)gagfs	p.E101fs		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	101						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.E101*(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGGTTCTGGCTCCCATTTCCCC	0.589												
SLCO2A1	6578	broad.mit.edu	37	3	133653573	133653573	+	Missense_Mutation	SNP	G	G	A	rs142805553	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:133653573G>A	uc003eqa.4	-	13	2190	c.1916C>T	c.(1915-1917)gCg>gTg	p.A639V		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	639					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.A639A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAGGCCTGCCGCCTTCTGCAC	0.567												
DNAJC19	131118	broad.mit.edu	37	3	180705861	180705861	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:180705861T>C	uc003fkt.3	-	2	251	c.79A>G	c.(79-81)Aag>Gag	p.K27E	DNAJC19_uc021xhv.1_Missense_Mutation_p.K2E|DNAJC19_uc021xhw.1_Missense_Mutation_p.K2E|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	27					genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TCCATATGCTTCATGGCTTGC	0.388												
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	A	G	rs12107841	by1000genomes	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587												
LGI2	55203	broad.mit.edu	37	4	25014080	25014080	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr4:25014080C>T	uc003grf.2	-	6	796	c.697G>A	c.(697-699)Gtg>Atg	p.V233M		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	233						extracellular region		p.V233V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AACGTATCCACTGAAACCGAC	0.453												
DCHS2	54798	broad.mit.edu	37	4	155219629	155219629	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr4:155219629G>T	uc003inw.2	-	17	4472	c.4472C>A	c.(4471-4473)gCt>gAt	p.A1491D		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1491	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCCACTTCAGCATCTTCTCT	0.463												
SLC6A19	340024	broad.mit.edu	37	5	1214110	1214110	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:1214110G>A	uc003jbw.4	+	5	873	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	273					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGACGCGGGCGCACAGGTCTT	0.647												
SLC6A3	6531	broad.mit.edu	37	5	1403128	1403128	+	Missense_Mutation	SNP	G	G	A	rs28364997	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:1403128G>A	uc003jck.3	-	12	1802	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	559					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCAGCCCAGCGCGTTGGCCCA	0.602												
ADAMTS12	81792	broad.mit.edu	37	5	33576573	33576573	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:33576573G>A	uc003jia.1	-	18	3721	c.3558C>T	c.(3556-3558)gaC>gaT	p.D1186D	ADAMTS12_uc010iuq.1_Silent_p.D1101D	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1186	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCACTGGAGCGTCATTTCCAG	0.498										HNSCC(64;0.19)		
HIST1H4G	8369	broad.mit.edu	37	6	26247188	26247188	+	Silent	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:26247188C>T	uc003nhf.3	-	0	18	c.18G>A	c.(16-18)aaG>aaA	p.K6K		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	6					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTTTCCGGCCTTGCCCCGAA	0.483												
ZFP57	346171	broad.mit.edu	37	6	29641134	29641134	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:29641134C>T	uc011dlw.2	-	3	905	c.754G>A	c.(754-756)Gtc>Atc	p.V252I		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	168					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CCCAGATGGACGCGGCGGTGA	0.557												
TJAP1	93643	broad.mit.edu	37	6	43470020	43470020	+	Splice_Site	SNP	G	G	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:43470020G>T	uc003ovd.2	+	7	667	c.291_splice	c.e7-1	p.R97_splice	TJAP1_uc003ovf.2_Splice_Site_p.R97_splice|TJAP1_uc003ove.2_Splice_Site_p.R97_splice|TJAP1_uc003ovc.2_Splice_Site_p.R97_splice|TJAP1_uc010jyp.2_Splice_Site_p.R56_splice|TJAP1_uc011dvh.1_Splice_Site_p.R97_splice|TJAP1_uc003ovg.2_Splice_Site|TJAP1_uc010jyq.2_Splice_Site_p.R97_splice|TJAP1_uc011dvi.1_Splice_Site_p.R97_splice|TJAP1_uc011dvj.2_Splice_Site|TJAP1_uc003ovi.2_5'UTR	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	97						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCCTTTTCAGGCTGCAGAAC	0.547												
HDAC2	3066	broad.mit.edu	37	6	114264560	114264563	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:114264560_114264563delCTTT	uc003pwd.2	-	11	1617_1620	c.1330_1333delAAAG	c.(1330-1335)aaagctfs	p.K444fs	HDAC2_uc003pwc.2_Frame_Shift_Del_p.K414fs|HDAC2_uc003pwe.2_Frame_Shift_Del_p.K414fs	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	444					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	tcaattctagctttctttgctcct	0.353												
HEY2	23493	broad.mit.edu	37	6	126080793	126080793	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:126080793C>T	uc003qad.3	+	4	1050	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	HEY2_uc011ebr.2_Missense_Mutation_p.P241S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	287	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGGGCATTCCCCATGCTTCC	0.667												
HOXA6	3203	broad.mit.edu	37	7	27185435	27185435	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:27185435G>A	uc003syo.2	-	1	569	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CGGCGGCGCCGTGTCAGGTAG	0.602												
CCDC132	55610	broad.mit.edu	37	7	92985271	92985271	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:92985271T>C	uc003umo.3	+	26	2782	c.2654T>C	c.(2653-2655)tTa>tCa	p.L885S	CCDC132_uc003ump.3_Missense_Mutation_p.L855S|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.L605S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	885										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CAACAGTTTTTAATGAAACTT	0.303												
PEG10	23089	broad.mit.edu	37	7	94293142	94293142	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:94293142A>G	uc003uno.3	+	1	753	c.274A>G	c.(274-276)Atg>Gtg	p.M92V	PEG10_uc011kie.2_Missense_Mutation_p.M168V|PEG10_uc022ahn.1_Missense_Mutation_p.M92V	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	92	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAACCCAGACATGCTGGCTCC	0.562												
OR2AE1	81392	broad.mit.edu	37	7	99474406	99474406	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:99474406T>C	uc003usc.1	-	0	251	c.251A>G	c.(250-252)aAc>aGc	p.N84S		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGATAGGTAGTTGGTAGCCAT	0.468												
KRBA1	84626	broad.mit.edu	37	7	149431067	149431067	+	Silent	SNP	A	A	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:149431067A>T	uc003wfz.3	+	17	3420	c.3021A>T	c.(3019-3021)ggA>ggT	p.G1007G	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.G615G	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	1008										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTGGGAGGAGTGCAGAGGG	0.647												
ANK1	286	broad.mit.edu	37	8	41519452	41519452	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr8:41519452C>T	uc003xok.3	-	40	5570	c.5486G>A	c.(5485-5487)cGc>cAc	p.R1829H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R983H|ANK1_uc003xoi.3_Missense_Mutation_p.R1829H|ANK1_uc003xoj.3_Missense_Mutation_p.R1829H|ANK1_uc003xol.3_Missense_Mutation_p.R1667H|ANK1_uc003xom.3_Missense_Mutation_p.R1870H|ANK1_uc003xof.3_Intron|ANK1_uc011lcl.2_Missense_Mutation_p.R104H|ANK1_uc003xod.3_Missense_Mutation_p.R104H|ANK1_uc003xoc.3_Missense_Mutation_p.R104H|MIR486_uc022auh.1_5'Flank	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1829	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AACCACCTTGCGAATGATCTA	0.602												
SLC28A3	64078	broad.mit.edu	37	9	86917142	86917142	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:86917142A>G	uc010mpz.3	-	4	643	c.497T>C	c.(496-498)cTa>cCa	p.L166P	SLC28A3_uc011lsy.2_Missense_Mutation_p.L97P|SLC28A3_uc004anu.2_Missense_Mutation_p.L166P|SLC28A3_uc010mqb.3_Missense_Mutation_p.L97P	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	166					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGGCTGTTTAGAAGCCTTCT	0.433												
NAA35	60560	broad.mit.edu	37	9	88627995	88627995	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:88627995A>T	uc004aoi.4	+	15	1462	c.1325A>T	c.(1324-1326)aAc>aTc	p.N442I	NAA35_uc004aoj.4_Missense_Mutation_p.N442I	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	442					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CATGGACATAACAGGGCTCGA	0.378												
SUSD3	203328	broad.mit.edu	37	9	95841846	95841846	+	Silent	SNP	C	C	T	rs146086851	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:95841846C>T	uc004atb.3	+	3	555	c.519C>T	c.(517-519)agC>agT	p.S173S	SUSD3_uc004atc.3_Silent_p.S160S	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	Homo sapiens sushi domain containing 3 (SUSD3), mRNA.	173						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AACCCGTGAGCGGGCCCAGCC	0.642												
DDX31	64794	broad.mit.edu	37	9	135470499	135470500	+	Splice_Site	DEL	CC	CC	-			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:135470499_135470500delCC	uc004cbq.1	-	20	2462	c.2310_splice	c.e20-1	p.R770_splice	DDX31_uc010mzu.1_Splice_Site_p.R697_splice	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	770						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GAAGGTCAGGCCTGAAGAACAG	0.460												
DCAF8L1	139425	broad.mit.edu	37	X	27998785	27998785	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:27998785A>G	uc004dbx.1	-	0	782	c.667T>C	c.(667-669)Tgg>Cgg	p.W223R		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	223										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACCCAGTCCCACACTATCACC	0.498												
MED12	9968	broad.mit.edu	37	X	70341430	70341430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:70341430C>T	uc004dyy.3	+	6	1064	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	MED12_uc011mpq.1_Nonsense_Mutation_p.Q289*|MED12_uc004dyz.3_Nonsense_Mutation_p.Q289*|MED12_uc004dza.3_Nonsense_Mutation_p.Q136*	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	289					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATTTGTTCAGTCTGCATA	0.502			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome					
MAGEA6	4105	broad.mit.edu	37	X	151870122	151870122	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:151870122T>A	uc022chf.1	+	0	812	c.812T>A	c.(811-813)tTc>tAc	p.F271Y	MAGEA6_uc004ffq.1_Missense_Mutation_p.F271Y|MAGEA6_uc004ffr.1_Missense_Mutation_p.F271Y	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	271	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTATGAGTTCCTGTGGGGT	0.532