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
NKAIN1	79570	broad.mit.edu	37	1	31658176	31658176	+	Splice_Site	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:31658176T>C	uc010ogd.2	-	3	533	c.193_splice	c.e3-1	p.Y65_splice	NKAIN1_uc010ogc.2_Intron	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 1 (NKAIN1), mRNA.	65						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		GGCTGCATACTGGGGAAAGCA	0.587												
KCNA2	3737	broad.mit.edu	37	1	111146955	111146955	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:111146955C>A	uc021oro.1	-	0	450	c.450G>T	c.(448-450)tgG>tgT	p.W150C	KCNA2_uc009wfv.2_Missense_Mutation_p.W150C|KCNA2_uc009wfw.3_Missense_Mutation_p.W150C	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	150						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CAAAGAGAAGCCACACTTGTC	0.473												
RYR2	6262	broad.mit.edu	37	1	237604722	237604722	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:237604722T>A	uc001hyl.1	+	12	1229	c.1109T>A	c.(1108-1110)cTa>cAa	p.L370Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	370	MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACACAGGCCTATGGCTTACT	0.373												
STAM	8027	broad.mit.edu	37	10	17735226	17735226	+	Silent	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:17735226A>G	uc001ipj.2	+	5	665	c.450A>G	c.(448-450)gcA>gcG	p.A150A	STAM_uc010qcf.2_Silent_p.A39A|STAM_uc009xjw.2_5'Flank	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	150					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTTAGGCTGCAGAACAAGCAA	0.408												
NEBL	10529	broad.mit.edu	37	10	21461321	21461321	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:21461321T>C	uc001iqk.3	-	1	509	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	NEBL_uc021pnu.1_Missense_Mutation_p.Y52C	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	714					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGCATTACAATAGGGCTTCTT	0.438												
SVIL	6840	broad.mit.edu	37	10	29839574	29839574	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:29839574C>T	uc001iut.1	-	5	1532	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	SVIL_uc001iuu.1_Missense_Mutation_p.R260Q|SVIL_uc009xld.1_Missense_Mutation_p.R260Q	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	260					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGAGGGGCTCCGGGAGGCTGC	0.612												
KIAA1462	57608	broad.mit.edu	37	10	30315760	30315760	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:30315760G>A	uc009xle.2	-	2	3454	c.3317C>T	c.(3316-3318)gCg>gTg	p.A1106V	KIAA1462_uc001iux.3_Missense_Mutation_p.A1106V|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.A968V	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1106										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTCTGTCCCGCTCTCCGGAT	0.637												
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	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.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(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)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	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)		
ANO3	63982	broad.mit.edu	37	11	26569054	26569054	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:26569054G>A	uc001mqt.4	+	11	1391	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	ANO3_uc010rdr.2_Missense_Mutation_p.V400I|ANO3_uc010rds.2_Missense_Mutation_p.V255I|ANO3_uc010rdt.2_Missense_Mutation_p.V270I	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	416						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGGTTTGTGCGTTTTCTTCTA	0.373												
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:55541619C>T	uc010ril.2	+	0	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	236			R -> L (in dbSNP:rs7124871).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G235W(1)|p.R236H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408												
OR10V1	390201	broad.mit.edu	37	11	59481032	59481032	+	Missense_Mutation	SNP	G	G	A	rs144835634		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:59481032G>A	uc001nof.1	-	0	287	c.287C>T	c.(286-288)aCg>aTg	p.T96M		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GCCACATCCCGTGATGGAAAC	0.473												
CAPN1	823	broad.mit.edu	37	11	64953733	64953733	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:64953733G>A	uc009yqd.2	+	5	880	c.683G>A	c.(682-684)cGc>cAc	p.R228H	CAPN1_uc001odf.2_Missense_Mutation_p.R228H|CAPN1_uc001odg.2_Missense_Mutation_p.R228H|CAPN1_uc010roa.2_5'UTR	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	228	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	p.R228H(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TACGAGTTGCGCAAGGCTCCC	0.637												
TMEM123	114908	broad.mit.edu	37	11	102272678	102272678	+	Silent	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:102272678A>G	uc001pha.3	-	2	838	c.417T>C	c.(415-417)agT>agC	p.S139S	TMEM123_uc009yxc.3_Silent_p.S120S	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Homo sapiens transmembrane protein 123 (TMEM123), mRNA.	139	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		ATGTCACTGAACTATTGTGGG	0.363												
RAPGEF3	10411	broad.mit.edu	37	12	48143197	48143197	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:48143197C>A	uc001rpz.4	-	9	1567	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.K297N|RAPGEF3_uc009zkq.3_Missense_Mutation_p.K297N|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.K351N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.K339N	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	297					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGAAGTCCTGCTTGTCCACAC	0.562												
SRRM4	84530	broad.mit.edu	37	12	119588965	119588965	+	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:119588965C>G	uc001txa.2	+	9	1608	c.1220C>G	c.(1219-1221)tCc>tGc	p.S407C		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	407	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCGTCCCGATCCCCAAATCCC	0.572												
RIMBP2	23504	broad.mit.edu	37	12	130898833	130898833	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:130898833C>T	uc001uil.2	-	13	2705	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	830						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGAGAAAGGCGGTCTCGCCC	0.572												
FGF14	2259	broad.mit.edu	37	13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr13:102375254G>A	uc001vpf.2	-	4	782	c.686C>T	c.(685-687)aCg>aTg	p.T229M	FGF14_uc001vpe.2_Missense_Mutation_p.T224M	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	224					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.T229M(2)|p.T224M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473												
C14orf39	317761	broad.mit.edu	37	14	60951623	60951623	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:60951623C>T	uc001xez.4	-	2	192	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	C14orf39_uc010apo.3_5'UTR	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	28										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATCATCTCTTCTTTAGTACTT	0.264												
DLK1	8788	broad.mit.edu	37	14	101201218	101201218	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:101201218C>T	uc001yhs.4	+	4	1341	c.1137C>T	c.(1135-1137)ggC>ggT	p.G379G	DLK1_uc001yhu.4_Silent_p.G306G|DLK1_uc021sbs.1_Silent_p.G91G	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	379					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGAGGCCGGCGACGAGGAGA	0.552												
TDRD9	122402	broad.mit.edu	37	14	104508512	104508512	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:104508512A>C	uc001yom.4	+	33	3992	c.3962A>C	c.(3961-3963)cAg>cCg	p.Q1321P	TDRD9_uc001yon.4_Missense_Mutation_p.Q868P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1321					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTGCCCGTCAGAAGCTTTTA	0.478												
TGM5	9333	broad.mit.edu	37	15	43552356	43552356	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:43552356C>T	uc001zrd.2	-	2	338	c.330G>A	c.(328-330)gcG>gcA	p.A110A	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	110					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A110A(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GACCCACGGCCGCCGTGGGAG	0.617												
DET1	55070	broad.mit.edu	37	15	89056199	89056199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:89056199G>A	uc002bmq.2	-	5	1858	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Nonsense_Mutation_p.R546*|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	546						nucleus		p.R557Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGCAGTGTCGCATATGGAAG	0.498												
DET1	55070	broad.mit.edu	37	15	89073948	89073948	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:89073948C>T	uc002bmq.2	-	2	1211	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.R330Q|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	330						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTTCCACATTCGCAGCTGCCG	0.493												
DNM1P47	100216544	broad.mit.edu	37	15	102292767	102292767	+	Nonsense_Mutation	SNP	C	C	T	rs113047734	by1000genomes	TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:102292767C>T	uc010usj.2	+	3	414	c.355C>T	c.(355-357)Cga>Tga	p.R119*	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		CACAGCGGCGCGACGAGATGC	0.597												
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	Missense_Mutation	SNP	C	C	G	rs61084368		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:102292785C>G	uc010usj.2	+	3	432	c.373C>G	c.(373-375)Cag>Gag	p.Q125E	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602												
ITGAX	3687	broad.mit.edu	37	16	31368588	31368588	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr16:31368588C>T	uc002ebt.3	+	4	400	c.333C>T	c.(331-333)acC>acT	p.T111T	ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebu.1_Silent_p.T111T	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	111					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCGGCCCCACCGTGCACCACG	0.687												
CCDC135	84229	broad.mit.edu	37	16	57760043	57760043	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr16:57760043G>A	uc002emi.3	+	12	1911	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	CCDC135_uc002emj.3_Missense_Mutation_p.V608M|CCDC135_uc002emk.3_Missense_Mutation_p.V543M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	608						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCAGAGCGCGTGTTTCTGGT	0.627												
DLG4	1742	broad.mit.edu	37	17	7121951	7121951	+	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:7121951C>G	uc002get.4	-	1	1228	c.27G>C	c.(25-27)agG>agC	p.R9S	DLG4_uc010cly.3_5'Flank|DLG4_uc010vto.2_Missense_Mutation_p.R9S|DLG4_uc002geu.3_5'Flank|ACADVL_uc010vtp.2_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.3_5'Flank|ACADVL_uc002gew.3_5'Flank|ACADVL_uc002gex.3_5'Flank	NM_001365	NP_001356	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 1, mRNA.	0					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						AGAGGGCTGACCTGGGAGCTA	0.592												
C17orf102	400591	broad.mit.edu	37	17	32905952	32905952	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:32905952G>T	uc002hie.1	-	0	437	c.348C>A	c.(346-348)aaC>aaA	p.N116K	TMEM132E_uc002hif.3_5'Flank	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	Homo sapiens chromosome 17 open reading frame 102 (C17orf102), mRNA.	116										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAATAAATAGGTTTCCCACAG	0.607												
GGNBP2	79893	broad.mit.edu	37	17	34943625	34943625	+	Frame_Shift_Del	DEL	T	T	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:34943625delT	uc002hnb.3	+	12	2156	c.1840delT	c.(1840-1842)ttgfs	p.L614fs		NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	614					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.T613T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACAGAAACGTTGTTTGGTCC	0.463												
SMG8	55181	broad.mit.edu	37	17	57292254	57292254	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:57292254T>G	uc002ixi.3	+	3	2909	c.2867T>G	c.(2866-2868)tTt>tGt	p.F956C		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	956					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GTTTTGAGATTTCCTTATGCA	0.473												
CTAGE1	64693	broad.mit.edu	37	18	19995570	19995570	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:19995570T>A	uc002ktv.1	-	0	2309	c.2205A>T	c.(2203-2205)agA>agT	p.R735S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	735	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAATGCAGGTCTTGGGGGAC	0.483												
TCEB3B	51224	broad.mit.edu	37	18	44560403	44560403	+	Silent	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:44560403T>C	uc002lcr.1	-	0	1586	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	411					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCTTTCCTTTGTTTATCTC	0.502												
MALT1	10892	broad.mit.edu	37	18	56400716	56400716	+	Frame_Shift_Del	DEL	A	A	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:56400716delA	uc002lhm.1	+	10	1568	c.1310delA	c.(1309-1311)gaafs	p.E437fs	MALT1_uc002lhn.1_Frame_Shift_Del_p.E426fs	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	437	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TATAGGTCTGAAAATTGTCTG	0.348			T	BIRC3	MALT							
TNFRSF11A	8792	broad.mit.edu	37	18	60025550	60025550	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:60025550C>T	uc002lin.3	+	4	535	c.497C>T	c.(496-498)aCg>aTg	p.T166M	TNFRSF11A_uc010dpv.3_Missense_Mutation_p.T166M	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	166					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTTCCTCCACGGACAAATGC	0.448												
TJP3	27134	broad.mit.edu	37	19	3730053	3730053	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:3730053C>T	uc010xhv.2	+	2	243	c.243C>T	c.(241-243)aaC>aaT	p.N81N	TJP3_uc010xhs.2_Silent_p.N62N|TJP3_uc010xht.2_Silent_p.N26N|TJP3_uc010xhu.2_Silent_p.N71N|TJP3_uc010xhw.2_Silent_p.N81N	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	62	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGTGAACGGGGTTTCCA	0.597												
MATK	4145	broad.mit.edu	37	19	3783147	3783147	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:3783147G>A	uc002lyt.3	-	6	1053	c.653C>T	c.(652-654)tCg>tTg	p.S218L	MATK_uc002lyv.3_Missense_Mutation_p.S219L|MATK_uc002lyu.3_Missense_Mutation_p.S177L|MATK_uc010dtq.3_Missense_Mutation_p.S218L	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	218					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGGCCGACTTGGTCCC	0.657												
CATSPERD	257062	broad.mit.edu	37	19	5757927	5757927	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:5757927A>G	uc002mda.3	+	13	1413	c.1352A>G	c.(1351-1353)aAc>aGc	p.N451S	CATSPERD_uc010duj.1_Missense_Mutation_p.N109S	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	451						integral to membrane											TCAGATGGGAACACCAAGTAC	0.567												
NFIX	4784	broad.mit.edu	37	19	13192662	13192662	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:13192662delC	uc010xmx.2	+	7	1324	c.1271delC	c.(1270-1272)accfs	p.T424fs	NFIX_uc002mwd.3_Frame_Shift_Del_p.T416fs|NFIX_uc002mwe.3_Frame_Shift_Del_p.T408fs|NFIX_uc002mwf.3_Frame_Shift_Del_p.T378fs|NFIX_uc002mwg.2_Frame_Shift_Del_p.T415fs			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	416					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGCCAGGCCACCGGACAGGTG	0.612											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NPHS1	4868	broad.mit.edu	37	19	36340038	36340038	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:36340038C>T	uc002oby.3	-	7	1008	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	284	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTGGACACCGGCTGGCCAT	0.677												
ZNF526	116115	broad.mit.edu	37	19	42730344	42730344	+	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:42730344C>G	uc002osz.1	+	2	1945	c.1789C>G	c.(1789-1791)Cga>Gga	p.R597G	ZNF526_uc021uvc.1_Missense_Mutation_p.R597G	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GGTCCATGCCCGAGCTCGGAC	0.612												
ZNF667	63934	broad.mit.edu	37	19	56953854	56953859	+	In_Frame_Del	DEL	CTTCTC	CTTCTC	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:56953854_56953859delCTTCTC	uc002qne.3	-	6	1296_1301	c.505_510delGAGAAG	c.(505-510)gagaagdel	p.EK169del	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_In_Frame_Del_p.EK169del|ZNF667_uc010etm.3_In_Frame_Del_p.EK112del	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTCAAAAGGCTTCTCTCCTGTATGA	0.374												
ZNF606	80095	broad.mit.edu	37	19	58490980	58490980	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:58490980G>C	uc002qqw.3	-	6	1686	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	ZNF606_uc010yhp.2_Missense_Mutation_p.F266L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TAAAGGATGAGAAATAAAAGA	0.333												
TPO	7173	broad.mit.edu	37	2	1488428	1488428	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:1488428G>A	uc002qwr.3	+	8	1485	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.V467M|TPO_uc002qwx.3_Missense_Mutation_p.V467M|TPO_uc002qwu.3_Missense_Mutation_p.V467M|TPO_uc010yio.2_Missense_Mutation_p.V294M|TPO_uc010yip.2_Missense_Mutation_p.V467M|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	467					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAGCAGTACGTGGGTCCCTA	0.587												
EMILIN1	11117	broad.mit.edu	37	2	27303034	27303034	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:27303034C>T	uc002rii.4	+	1	685	c.186C>T	c.(184-186)taC>taT	p.Y62Y	EMILIN1_uc010eyq.2_Silent_p.Y62Y	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	62	EMI.				cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGTGCCTACGTGGTGACCC	0.592												
PSME4	23198	broad.mit.edu	37	2	54094006	54094006	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:54094006G>A	uc002rxp.2	-	44	5331	c.5275C>T	c.(5275-5277)Cgc>Tgc	p.R1759C	PSME4_uc010yop.1_Missense_Mutation_p.R1649C|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.R1134C|PSME4_uc010fbv.1_Missense_Mutation_p.R903C|PSME4_uc010fbt.1_Missense_Mutation_p.R194C	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1759					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCAGCATGGCGTTTGACCAAC	0.418												
IL1R2	7850	broad.mit.edu	37	2	102638708	102638708	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:102638708C>T	uc002tbm.3	+	5	977	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	IL1R2_uc002tbn.3_Silent_p.L250L|IL1R2_uc002tbo.1_Silent_p.L250L	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	250	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.S249Y(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATCAGCTTCTCTGGGTAAGGC	0.507												
SLC5A7	60482	broad.mit.edu	37	2	108609520	108609520	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:108609520C>A	uc002tdv.3	+	3	661	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.L129I|SLC5A7_uc010ywn.2_Missense_Mutation_p.L16I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	129					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.L129L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CATGGGCGGACTCCTGTTTAT	0.453												
STAM2	10254	broad.mit.edu	37	2	153003822	153003822	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:153003822C>T	uc002tyc.4	-	5	651	c.301_splice	c.e5-1	p.A101_splice	STAM2_uc010foa.1_Splice_Site_p.A101_splice|STAM2_uc002tyd.3_Splice_Site_p.A101_splice	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	101	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTAGGATGTGCCTTTTAAGGA	0.299												
NHEJ1	79840	broad.mit.edu	37	2	220012493	220012493	+	Silent	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:220012493G>A	uc002vjp.4	-	3	561	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	NHEJ1_uc002vjq.4_Non-coding_Transcript	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	Homo sapiens nonhomologous end-joining factor 1 (NHEJ1), mRNA.	139					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		ATGCCCATCAGAGGACGAATC	0.433								Non-homologous end-joining				
PLCB4	5332	broad.mit.edu	37	20	9417712	9417712	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:9417712G>A	uc021wam.1	+	25	2656	c.2641G>A	c.(2641-2643)Gcc>Acc	p.A881T	PLCB4_uc010gbw.1_Missense_Mutation_p.A881T|PLCB4_uc010gbx.3_Missense_Mutation_p.A893T|PLCB4_uc021wal.1_Missense_Mutation_p.A881T|PLCB4_uc002wnh.3_Missense_Mutation_p.A728T	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	881					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCCAACACCGCCAAAGCAAA	0.512												
KIF16B	55614	broad.mit.edu	37	20	16506810	16506810	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:16506810G>C	uc002wpg.2	-	2	317	c.158C>G	c.(157-159)aCc>aGc	p.T53S	KIF16B_uc010gch.2_Missense_Mutation_p.T53S|KIF16B_uc010gci.2_Missense_Mutation_p.T53S|KIF16B_uc010gcj.2_Missense_Mutation_p.T53S	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	53	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.R52L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAAGGTCTTGGTCCGTTCTCT	0.353												
SSTR4	6754	broad.mit.edu	37	20	23016581	23016581	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:23016581C>T	uc002wsr.2	+	0	525	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	154					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTCTGCGCGCGGCGACCTAC	0.662												
BPIFB2	80341	broad.mit.edu	37	20	31606072	31606072	+	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:31606072C>G	uc002wyj.3	+	7	779	c.585C>G	c.(583-585)aaC>aaG	p.N195K		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	195						extracellular region	lipid binding										AAGGCCTCAACCCCGTGGGTC	0.473												
PPP1R16B	26051	broad.mit.edu	37	20	37534721	37534721	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:37534721C>T	uc002xje.3	+	6	995	c.806C>T	c.(805-807)gCt>gTt	p.A269V	PPP1R16B_uc010ggc.3_Intron	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	269					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTGCATGCAGCTGCCTTCTGG	0.607												
MX2	4600	broad.mit.edu	37	21	42773954	42773954	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr21:42773954A>G	uc002yzf.1	+	10	1576	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MX2_uc002yzg.1_Missense_Mutation_p.E214G|MX2_uc010gop.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	491					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CGAGGCAAGGAGCTTCTGGGA	0.433												
XYLB	9942	broad.mit.edu	37	3	38411555	38411555	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr3:38411555A>G	uc003cic.2	+	8	764	c.655A>G	c.(655-657)Atg>Gtg	p.M219V	XYLB_uc011ayp.1_Missense_Mutation_p.M82V|XYLB_uc003cid.1_Missense_Mutation_p.M141V	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	219					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AGGTTCTGGAATGAATTTGTT	0.443												
CD96	10225	broad.mit.edu	37	3	111264248	111264248	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr3:111264248C>T	uc003dxw.3	+	2	588	c.418_splice	c.e2+1	p.V140_splice	CD96_uc003dxv.3_Splice_Site_p.V140_splice|CD96_uc003dxx.3_Splice_Site_p.V140_splice|CD96_uc010hpy.1_Splice_Site_p.V140_splice	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	140					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTCAGACACACGGTAAGCATA	0.418									Opitz Trigonocephaly syndrome			
DOK7	285489	broad.mit.edu	37	4	3478126	3478126	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:3478126C>A	uc003ghd.3	+	3	459	c.389C>A	c.(388-390)aCc>aAc	p.T130N	DOK7_uc003ghe.3_Missense_Mutation_p.T130N	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	130	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCCGGCTACCCTGCACCTC	0.672												
GABRA4	2557	broad.mit.edu	37	4	46967126	46967126	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:46967126G>A	uc003gxg.3	-	7	1978	c.995C>T	c.(994-996)tCg>tTg	p.S332L	GABRA4_uc021xnz.1_Missense_Mutation_p.S313L|GABRA4_uc021xoa.1_Missense_Mutation_p.S262L	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	332					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATAAGGGCCGAAAATACAAA	0.458												
NUP54	53371	broad.mit.edu	37	4	77065621	77065621	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:77065621A>G	uc003hjs.3	-	1	201	c.73T>C	c.(73-75)Ttt>Ctt	p.F25L	NUP54_uc010ije.3_5'UTR|NUP54_uc011cbs.2_5'UTR|NUP54_uc011cbt.2_Missense_Mutation_p.F25L|NUP54_uc003hjt.3_5'UTR	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	25	9 X 2 AA repeats of F-G.|Gly-rich.			AGGF -> GWV (in Ref. 1; AAF67488).	carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AATCCTCCAAACCCACCTAAT	0.333												
ARHGAP24	83478	broad.mit.edu	37	4	86916597	86916597	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:86916597C>A	uc003hpk.3	+	8	2239	c.1790C>A	c.(1789-1791)cCg>cAg	p.P597Q	ARHGAP24_uc003hpl.3_Missense_Mutation_p.P502Q|ARHGAP24_uc010ikf.3_Missense_Mutation_p.P512Q|ARHGAP24_uc003hpm.3_Missense_Mutation_p.P504Q	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	597					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGGGCCCCCGCAGGACGAC	0.557												
PDHA2	5161	broad.mit.edu	37	4	96761886	96761886	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:96761886C>T	uc003htr.4	+	0	648	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	195					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.G195G(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATGGGGATGGCGCTGCGAATC	0.473												
ADH7	131	broad.mit.edu	37	4	100349053	100349053	+	Silent	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:100349053G>A	uc003huv.2	-	4	718	c.477C>T	c.(475-477)acC>acT	p.T159T	ADH7_uc021xqj.1_Silent_p.T167T	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	159					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CTGTGTACTCGGTAAATGTAC	0.458												
DCHS2	54798	broad.mit.edu	37	4	155157377	155157377	+	Silent	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:155157377T>C	uc003inw.2	-	24	7062	c.7062A>G	c.(7060-7062)gtA>gtG	p.V2354V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2354	Cadherin 21.				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)		AACAGGGTGATACAATAGAAT	0.393												
CCDC110	256309	broad.mit.edu	37	4	186381079	186381079	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:186381079T>C	uc003ixu.4	-	5	738	c.662A>G	c.(661-663)gAt>gGt	p.D221G	CCDC110_uc003ixv.4_Missense_Mutation_p.D184G|CCDC110_uc011ckt.1_Missense_Mutation_p.D221G	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	221						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGGATTTATCCAGAATTAC	0.323												
WDR70	55100	broad.mit.edu	37	5	37480065	37480065	+	Nonsense_Mutation	SNP	T	T	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:37480065T>G	uc003jkv.3	+	7	874	c.816T>G	c.(814-816)taT>taG	p.Y272*	WDR70_uc010iva.1_Nonsense_Mutation_p.Y272*	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	272										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGACCAGTATATTGTGGACA	0.348												
C5orf34	375444	broad.mit.edu	37	5	43509299	43509299	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:43509299T>G	uc003jnz.2	-	1	545	c.143A>C	c.(142-144)gAa>gCa	p.E48A	C5orf34_uc011cpx.2_Intron	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	48										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTCTGGTTGTTCTAAAGGATG	0.358												
PCDHAC2	56139	broad.mit.edu	37	5	140237634	140237634	+	Silent	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:140237634G>A	uc003lhx.2	+	0	2001	c.2001G>A	c.(1999-2001)tcG>tcA	p.S667S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.S667S	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	679	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTGTGTCGCTTGTGGAGG	0.667												
ERGIC1	57222	broad.mit.edu	37	5	172336690	172336690	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:172336690A>G	uc003mbw.4	+	3	370	c.176A>G	c.(175-177)gAt>gGt	p.D59G	ERGIC1_uc003mby.4_5'UTR|ERGIC1_uc011dfa.2_5'UTR|ERGIC1_uc003mbz.4_Missense_Mutation_p.D14G	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA.	59					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCTATGTCGATGACCCAGAC	0.542												
KIF13A	63971	broad.mit.edu	37	6	17837205	17837205	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:17837205C>T	uc003ncg.4	-	10	1219	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	KIF13A_uc003ncf.3_Silent_p.V353V|KIF13A_uc003nch.4_Silent_p.V353V|KIF13A_uc003nci.4_Silent_p.V353V|KIF13A_uc003ncj.3_Silent_p.V29V	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	353					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGCATGGTTCACAATCCTTT	0.502												
RFX6	222546	broad.mit.edu	37	6	117215161	117215161	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:117215161A>C	uc003pxm.3	+	4	641	c.578A>C	c.(577-579)tAt>tCt	p.Y193S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	193					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TATCATTACTATGGGATTGGC	0.413												
SYNJ2	8871	broad.mit.edu	37	6	158483196	158483196	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:158483196G>A	uc003qqx.2	+	8	1233	c.1127_splice	c.e8+1	p.R376_splice	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Splice_Site_p.R376_splice|SYNJ2_uc003qqy.2_Splice_Site_p.R139_splice|SYNJ2_uc011efn.1_Splice_Site_p.R304_splice|SYNJ2_uc010kjo.1_Splice_Site_p.R325_splice|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	376	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTCAGTCCACGGTGAGGCTCG	0.607												
IGFBP1	3484	broad.mit.edu	37	7	45932660	45932660	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:45932660C>T	uc003tnp.3	+	3	1043	c.750C>T	c.(748-750)aaC>aaT	p.N250N		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	250	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						GAGACCCCAACTGCCAGATAT	0.433												
CDHR3	222256	broad.mit.edu	37	7	105660972	105660972	+	Missense_Mutation	SNP	C	C	T	rs144905888	by1000genomes	TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:105660972C>T	uc003vdl.4	+	12	1915	c.1807C>T	c.(1807-1809)Cgt>Tgt	p.R603C	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Missense_Mutation_p.R590C|CDHR3_uc011klt.2_Missense_Mutation_p.R515C|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	603	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CAGATCTTTCCGTTATTCCAT	0.498												
PARP12	64761	broad.mit.edu	37	7	139726106	139726106	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:139726106C>T	uc003vvl.1	-	10	2545	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	557	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCCGCTCGTCCACGGCCTTCC	0.572												
CNTNAP2	26047	broad.mit.edu	37	7	146818164	146818164	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:146818164G>A	uc003weu.2	+	5	1364	c.848G>A	c.(847-849)cGc>cAc	p.R283H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	283	Laminin G-like 1.		R -> C.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCATTGAGCGCCAGGGGCGG	0.532										HNSCC(39;0.1)		
MLL3	58508	broad.mit.edu	37	7	151962124	151962124	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:151962124T>C	uc003wla.3	-	8	1403	c.1184_splice	c.e8+1	p.K395_splice		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	395					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAAACTTACTTGCAGTTCTGG	0.403			N		medulloblastoma							
NEFM	4741	broad.mit.edu	37	8	24772112	24772112	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr8:24772112C>T	uc003xed.4	+	0	839	c.806C>T	c.(805-807)gCg>gTg	p.A269V	NEFM_uc011lac.1_Missense_Mutation_p.A269V|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	269	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton	p.A269V(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTCGACGGCGCTGAAGGAA	0.592												
CA9	768	broad.mit.edu	37	9	35674152	35674152	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:35674152C>T	uc003zxo.4	+	0	238	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	C9orf100_uc003zxl.3_Non-coding_Transcript|CA9_uc003zxn.1_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	66	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	p.L65L(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGATCTGCCCAGTGAAGA	0.592												
SPAG8	26206	broad.mit.edu	37	9	35810291	35810291	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:35810291G>T	uc003zye.3	-	5	1331	c.1216C>A	c.(1216-1218)Cag>Aag	p.Q406K	SPAG8_uc003zyg.3_Missense_Mutation_p.Q406K	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	406						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGTTGCTCCTGGCGGTAGTCG	0.607												
MELK	9833	broad.mit.edu	37	9	36651764	36651764	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:36651764G>T	uc003zzn.3	+	11	1081	c.943G>T	c.(943-945)Gct>Tct	p.A315S	MELK_uc011lpm.2_Missense_Mutation_p.A184S|MELK_uc011lpn.2_Missense_Mutation_p.A315S|MELK_uc011lpo.2_Missense_Mutation_p.A121S|MELK_uc010mll.3_Missense_Mutation_p.A283S|MELK_uc011lpp.2_Missense_Mutation_p.A267S|MELK_uc010mlm.3_Missense_Mutation_p.A244S|MELK_uc011lpr.2_Missense_Mutation_p.A244S|MELK_uc011lpq.2_Missense_Mutation_p.A121S|MELK_uc011lps.2_Missense_Mutation_p.A235S	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	315						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TCACCTCACGGCTACCTATCT	0.403												
FAM75A2	642265	broad.mit.edu	37	9	39888189	39888189	+	Silent	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:39888189G>T	uc004abp.3	+	3	1205	c.1176G>T	c.(1174-1176)ctG>ctT	p.L392L		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	392						integral to membrane				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGAAACAGCTGCCCGGACCTC	0.488												
SH2D3C	10044	broad.mit.edu	37	9	130502108	130502108	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:130502108delC	uc004bsc.3	-	10	2402	c.2260delG	c.(2260-2262)gagfs	p.E754fs	SH2D3C_uc010mxo.3_Frame_Shift_Del_p.E594fs|SH2D3C_uc004bry.3_Frame_Shift_Del_p.E596fs|SH2D3C_uc004brz.4_Frame_Shift_Del_p.E400fs|SH2D3C_uc011mak.2_Frame_Shift_Del_p.E400fs|SH2D3C_uc004bsb.3_Frame_Shift_Del_p.E686fs|SH2D3C_uc004bsa.3_Frame_Shift_Del_p.E597fs	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	754	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGTCACACTCCAGCAGGGTG	0.657												
MAGEB18	286514	broad.mit.edu	37	X	26157158	26157158	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chrX:26157158G>A	uc022bub.1	+	0	56	c.56G>A	c.(55-57)cGt>cAt	p.R19H	MAGEB18_uc004dbq.2_Missense_Mutation_p.R19H	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	19							protein binding	p.R19H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CACCAGGCTCGTTGTGAGAAT	0.532												
CXorf48	54967	broad.mit.edu	37	X	134294392	134294392	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chrX:134294392T>C	uc004eyk.1	-	2	1024	c.368A>G	c.(367-369)gAa>gGa	p.E123G	CXorf48_uc004eyl.1_Missense_Mutation_p.E123G	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA.	123										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AATATTATCTTCATTTATAGA	0.308