Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GATA3	2625	broad.mit.edu	37	10	8115874	8115874	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:8115874C>G	ENST00000379328.3	+	6	1791	c.1223C>G	c.(1222-1224)tCg>tGg	p.S408W	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S407W	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	407					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						3	107					0	0	0.115264	0	0
GPR85	54329	broad.mit.edu	37	7	112724579	112724579	+	Silent	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:112724579A>G	ENST00000501255.2	-	3	821	c.198T>C	c.(196-198)gaT>gaC	p.D66D	GPR85_ENST00000424100.1_Silent_p.D66D|GPR85_ENST00000297146.2_Silent_p.D66D|GPR85_ENST00000449591.1_Silent_p.D66D	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	66						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D66D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATCTGAGGATATCTGAACAGC	0.433000													17	126					0	0	0.520397	0	0
TDRD6	221400	broad.mit.edu	37	6	46657374	46657374	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:46657374G>A	ENST00000544460.1	+	1	1763	c.1509G>A	c.(1507-1509)tgG>tgA	p.W503*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.W503*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	503					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTGAGTTTTGGATTAGGTTGA	0.408000													24	181					0	0	0.624587	0	0
SVEP1	79987	broad.mit.edu	37	9	113220760	113220760	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:113220760G>A	ENST00000401783.2	-	20	3903	c.3567C>T	c.(3565-3567)atC>atT	p.I1189I	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.I1189I|SVEP1_ENST00000374469.1_Silent_p.I1166I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1189					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGACTGCTGATTTCATGCC	0.403000													6	43					0	0	0.217242	0	0
TRANK1	9881	broad.mit.edu	37	3	36874112	36874112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:36874112C>T	ENST00000301807.6	-	21	7077	c.5180G>A	c.(5179-5181)cGc>cAc	p.R1727H	TRANK1_ENST00000429976.2_Missense_Mutation_p.R2277H|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1727H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2277					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGCGGTTGCGTGCGCTTTC	0.478000													5	112					0	0	0.248553	0	0
UTRN	7402	broad.mit.edu	37	6	145118996	145118996	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:145118996A>C	ENST00000367545.3	+	63	9115	c.9115A>C	c.(9115-9117)Ata>Cta	p.I3039L	UTRN_ENST00000367526.4_Missense_Mutation_p.I594L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3039	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAGAGTTTATAGATTGGAT	0.378000													14	89					0	0	0.479597	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064157	6064157	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:6064157C>T	ENST00000409021.3	-	10	1891	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R296Q|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R481Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R316Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R481Q|JAKMIP1_ENST00000457227.2_5'UTR	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	481	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R481Q(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCCTCCTCTCGGGCTGTGGC	0.473000													17	71					0	0	0.624587	0	0
MANEA	79694	broad.mit.edu	37	6	96054094	96054094	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:96054094C>G	ENST00000358812.4	+	5	1336	c.1202C>G	c.(1201-1203)tCt>tGt	p.S401C		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	401	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCTATCACCTCTTTTAATGAG	0.428000													10	104					0	0	0.335167	0	0
CACNA1S	779	broad.mit.edu	37	1	201016272	201016272	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:201016272G>A	ENST00000362061.3	-	38	4865	c.4639C>T	c.(4639-4641)Cgg>Tgg	p.R1547W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1528W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1547					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTCTTGGGCCGATAGCCATAA	0.517000													90	205					0	0	0.870114	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284511	118284511	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:118284511G>A	ENST00000402510.2	-	1	31	c.32C>T	c.(31-33)tCt>tTt	p.S11F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	11								p.S11F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTGAAAGGCAGAGAAGCCTCG	0.642000													21	94					0	0	0.624587	0	0
SCAF8	22828	broad.mit.edu	37	6	155131214	155131214	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:155131214C>G	ENST00000367178.3	+	12	1868	c.1292C>G	c.(1291-1293)tCa>tGa	p.S431*	SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S497*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S431*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	431	Arg-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	p.S431*(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AGAAAGCGATCACGCTCCCGC	0.413000													34	210					0	0	0.779181	0	0
KCTD19	146212	broad.mit.edu	37	16	67325248	67325248	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:67325248G>A	ENST00000304372.5	-	14	2584	c.2529C>T	c.(2527-2529)atC>atT	p.I843I		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	843						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCTTGGCTGTGATGGCTTTGG	0.557000													9	63					0	0	0.411799	0	0
AIM1	202	broad.mit.edu	37	6	106973015	106973015	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:106973015G>C	ENST00000369066.3	+	3	3516	c.3029G>C	c.(3028-3030)aGa>aCa	p.R1010T		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1010							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAGACACTTAGAGGAAGTGTC	0.373000													7	169					0	0	0.278610	0	0
ACTC1	70	broad.mit.edu	37	15	35086908	35086908	+	Silent	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:35086908C>A	ENST00000290378.4	-	2	757	c.102G>T	c.(100-102)ccG>ccT	p.P34P	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	34					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.P34P(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCACGATGGACGGGAAGACAG	0.682000													20	82					3.51602e-12	3.81398e-12	0.575678	1	0
TAB1	10454	broad.mit.edu	37	22	39811028	39811028	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:39811028G>T	ENST00000216160.6	+	2	113	c.51G>T	c.(49-51)tgG>tgT	p.W17C	TAB1_ENST00000331454.3_Missense_Mutation_p.W17C	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	17					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGCCAAGCTGGACAGATGACC	0.612000													9	31					2.80697e-09	2.96936e-09	0.387290	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156638419	156638419	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:156638419G>C	ENST00000296518.7	+	8	1890	c.1681G>C	c.(1681-1683)Gat>Cat	p.D561H	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D561H|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.D303H|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D561H|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D561H|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D561H|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D561H			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	561	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGAGCTCTCTGATGAAGTTAT	0.438000													18	70					0	0	0.539581	0	0
RALGPS1	9649	broad.mit.edu	37	9	129975312	129975312	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:129975312G>A	ENST00000259351.5	+	17	1803	c.1536G>A	c.(1534-1536)ctG>ctA	p.L512L	RALGPS1_ENST00000373434.1_Silent_p.L462L|RALGPS1_ENST00000424082.2_Silent_p.L470L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	512	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.L462L(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCTTCCAGCTGAACAACCCTG	0.542000													22	51					0	0	0.667858	0	0
LRP1B	53353	broad.mit.edu	37	2	142888281	142888281	+	Silent	SNP	G	G	C	rs139525868		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:142888281G>C	ENST00000389484.3	-	1	989	c.18C>G	c.(16-18)ctC>ctG	p.L6L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	6					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAGTAAGGCGAGGAGAAACT	0.677000										TSP Lung(27;0.18)			5	14					0	0	0.217242	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477466	25477466	+	RNA	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:25477466G>A	ENST00000453082.2	+	0	1688					NR_003343.1																						CTGGTCTCCTGCACTGAGCTG	0.567000													16	102					0	0	0.479597	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765901	18765901	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:18765901C>T	ENST00000304081.4	-	4	702	c.602G>A	c.(601-603)cGc>cAc	p.R201H	NT5C1B_ENST00000600945.1_Missense_Mutation_p.R261H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R261H|NT5C1B_ENST00000359846.2_Missense_Mutation_p.R261H	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CAGAGAGTTGCGGTCCAGCTG	0.652000													4	24					0	0	0.150653	0	0
ASZ1	136991	broad.mit.edu	37	7	117067495	117067495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:117067495C>T	ENST00000284629.2	-	1	82	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	7					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.R7Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TGGCAGGCCTCGCAGCGCGCT	0.697000											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	10					0	0	0.411799	0	0
NCF2	4688	broad.mit.edu	37	1	183546795	183546795	+	Missense_Mutation	SNP	C	C	G	rs137854515		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:183546795C>G	ENST00000413720.1	-	3	579	c.305G>C	c.(304-306)cGa>cCa	p.R102P	NCF2_ENST00000418089.1_Missense_Mutation_p.R102P|NCF2_ENST00000367536.1_Missense_Mutation_p.R102P|NCF2_ENST00000367535.3_Missense_Mutation_p.R102P	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	102			R -> P (in CGD2; dbSNP:rs137854515).		cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CTGGTTCCCTCGAAGCTGAAT	0.488000													24	181					0	0	0.693898	0	0
MRPS9	64965	broad.mit.edu	37	2	105708870	105708870	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:105708870C>T	ENST00000258455.3	+	8	773	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	221					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ATATGCAGTTCATTCGGCTGC	0.353000													17	77					0	0	0.557998	0	0
THBS3	7059	broad.mit.edu	37	1	155174872	155174872	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:155174872C>T	ENST00000368378.3	-	3	542	c.522G>A	c.(520-522)caG>caA	p.Q174Q	RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000428962.2_Intron|THBS3_ENST00000457183.2_Intron|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000487250.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	174	TSP N-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	p.Q174Q(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AATACGCCTTCTGTCCAGTCC	0.577000													21	43					0	0	0.575678	0	0
RP1L1	94137	broad.mit.edu	37	8	10465038	10465038	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:10465038C>T	ENST00000382483.3	-	4	6793	c.6570G>A	c.(6568-6570)caG>caA	p.Q2190Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2190					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCTGGCTGGGCCTCCC	0.617000													20	415					0	0	0.729181	0	0
IGLV4-60	28785	broad.mit.edu	37	22	22516791	22516791	+	RNA	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:22516791C>G	ENST00000390284.2	+	0	79																											TGTGCTGACTCAATCATCCTC	0.527000													5	145					0	0	0.217242	0	0
COL2A1	1280	broad.mit.edu	37	12	48388219	48388219	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:48388219C>T	ENST00000380518.3	-	12	968	c.804G>A	c.(802-804)ccG>ccA	p.P268P	COL2A1_ENST00000337299.6_Silent_p.P199P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	268	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.P199P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGGACCAGGCGGACCCCTTT	0.557000													16	53					0	0	0.500413	0	0
MTMR14	64419	broad.mit.edu	37	3	9711137	9711137	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:9711137C>A	ENST00000296003.4	+	5	637	c.515C>A	c.(514-516)gCa>gAa	p.A172E	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.A172E|MTMR14_ENST00000353332.5_Missense_Mutation_p.A172E	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	172						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GATGCCTGGGCAGATGTGGAG	0.612000													17	101					2.35188e-11	2.52975e-11	0.539581	1	0
RGN	9104	broad.mit.edu	37	X	46951163	46951163	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:46951163G>C	ENST00000397180.1	+	6	1618	c.649G>C	c.(649-651)Gcc>Ccc	p.A217P	RGN_ENST00000457380.1_Missense_Mutation_p.A145P|RGN_ENST00000352078.4_Missense_Mutation_p.A217P|RGN_ENST00000336169.3_Missense_Mutation_p.A217P	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	217					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GCTCTGGGTGGCCTGTTACAA	0.458000													5	122					0	0	0.184627	0	0
TMEM200B	399474	broad.mit.edu	37	1	29447769	29447769	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:29447769G>C	ENST00000420504.2	-	2	729	c.572C>G	c.(571-573)cCg>cGg	p.P191R	TMEM200B_ENST00000521452.1_Missense_Mutation_p.P191R	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	191	Pro-rich.					integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		ACGCGGGGACGGGTCCCAGAT	0.692000													14	15					0	0	0.457914	0	0
PDCD2L	84306	broad.mit.edu	37	19	34912449	34912449	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:34912449T>A	ENST00000246535.3	+	6	870	c.823T>A	c.(823-825)Ttt>Att	p.F275I	PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	275						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AGAGCCACTCTTTTTGACCTG	0.512000													16	378					0	0	0.520397	0	0
DUOX1	53905	broad.mit.edu	37	15	45426426	45426426	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:45426426C>T	ENST00000321429.4	+	5	633	c.226C>T	c.(226-228)Cga>Tga	p.R76*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R76*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	76	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.R76G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCCAACCCCCGAGACCTTAG	0.627000													18	144					0	0	0.539581	0	0
WDR33	55339	broad.mit.edu	37	2	128477169	128477169	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:128477169C>T	ENST00000322313.4	-	16	2588	c.2430G>A	c.(2428-2430)atG>atA	p.M810I		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	810					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAGGTCCTCTCATCTCTTGAG	0.617000													12	100					0	0	0.479597	0	0
NAV1	89796	broad.mit.edu	37	1	201777960	201777960	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:201777960G>A	ENST00000367296.4	+	20	4588	c.4168G>A	c.(4168-4170)Gca>Aca	p.A1390T	NAV1_ENST00000367297.4_Missense_Mutation_p.A1382T|NAV1_ENST00000367295.1_Missense_Mutation_p.A996T|NAV1_ENST00000367302.1_Missense_Mutation_p.A1343T|NAV1_ENST00000295624.6_Missense_Mutation_p.A1387T|NAV1_ENST00000367300.3_Missense_Mutation_p.A1330T|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1390					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTAGGCCTGGCACTCACCCA	0.562000													6	304					0	0	0.217242	0	0
MIR519C	574466	broad.mit.edu	37	19	54189764	54189764	+	RNA	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:54189764C>G	ENST00000385053.1	+	0	42					NR_030188.1																						TTTCTGTTGTCTGAAAGAAAA	0.413000													25	185					0	0	0.706142	0	0
FAM98A	25940	broad.mit.edu	37	2	33809952	33809952	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:33809952C>T	ENST00000238823.8	-	8	1588	c.1448G>A	c.(1447-1449)aGa>aAa	p.R483K	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.R288K			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	484	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTGGCTCCCTCTTCCTCCCCA	0.562000													46	300					0	0	0.870114	0	0
HAGH	3029	broad.mit.edu	37	16	1859322	1859322	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:1859322G>A	ENST00000397356.3	-	9	1295	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	HAGH_ENST00000566709.1_3'UTR|HAGH_ENST00000455446.2_3'UTR|HAGH_ENST00000567398.1_5'UTR|HAGH_ENST00000397353.2_Missense_Mutation_p.R249C	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	297	Substrate.				glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTCTCCCTGCGCACGGCCCGC	0.652000													7	269					0	0	0.248553	0	0
GGT7	2686	broad.mit.edu	37	20	33444646	33444646	+	Silent	SNP	G	G	A	rs3746452		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:33444646G>A	ENST00000336431.5	-	8	1109	c.1065C>T	c.(1063-1065)agC>agT	p.S355S		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	355					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCACAAGGGCGCTGTAATTGC	0.602000													4	32					0	0	0.184627	0	0
PKMYT1	9088	broad.mit.edu	37	16	3024073	3024073	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:3024073G>T	ENST00000431515.2	-	7	1623	c.1238C>A	c.(1237-1239)cCg>cAg	p.P413Q	PKMYT1_ENST00000262300.8_Missense_Mutation_p.P413Q|PKMYT1_ENST00000574730.1_Missense_Mutation_p.P344Q|PKMYT1_ENST00000440027.2_Missense_Mutation_p.P413Q|PKMYT1_ENST00000573944.1_Missense_Mutation_p.P404Q|PKMYT1_ENST00000574385.1_Missense_Mutation_p.P404Q			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	413	Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAGCCAGGCGGGGTGGCTGG	0.677000													5	28					1.23904e-05	1.28941e-05	0.184627	1	0
ZBTB16	7704	broad.mit.edu	37	11	114027138	114027138	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:114027138C>T	ENST00000335953.4	+	3	1728	c.1348C>T	c.(1348-1350)Cac>Tac	p.H450Y	ZBTB16_ENST00000392996.2_Missense_Mutation_p.H450Y	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	450					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCTGAGAATGCACTTACTGGC	0.547000													8	51					0	0	0.278610	0	0
KCNK15	60598	broad.mit.edu	37	20	43379005	43379005	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:43379005C>T	ENST00000372861.3	+	2	650	c.519C>T	c.(517-519)ctC>ctT	p.L173L		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	173						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CCCTGGCCCTCGGGGCCGTCG	0.672000													12	53					0	0	0.411799	0	0
SARDH	1757	broad.mit.edu	37	9	136578232	136578232	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:136578232C>G	ENST00000371872.4	-	9	1422	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	SARDH_ENST00000439388.1_Missense_Mutation_p.D389H|SARDH_ENST00000422262.2_Missense_Mutation_p.D221H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	389					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGCTTGTGGTCGGGCGTGAAG	0.607000													6	23					0	0	0.278610	0	0
GATC	283459	broad.mit.edu	37	12	120884532	120884532	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:120884532G>A	ENST00000551765.1	+	2	197	c.154G>A	c.(154-156)Gag>Aag	p.E52K	AL021546.6_ENST00000551806.1_Missense_Mutation_p.R83Q	NM_176818.2	NP_789788.1	O43716	GATCL_HUMAN	glutamyl-tRNA(Gln) amidotransferase, subunit C	52					regulation of translational fidelity			p.E52K(1)		breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCAGCCGCGAGGCAGTGGC	0.672000													16	38					0	0	0.639603	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	83					0	0	0.184627	0	0
TYRP1	7306	broad.mit.edu	37	9	12704633	12704633	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:12704633G>T	ENST00000388918.5	+	6	1318	c.1189G>T	c.(1189-1191)Gat>Tat	p.D397Y	TYRP1_ENST00000381137.2_Missense_Mutation_p.D106Y|TYRP1_ENST00000381136.2_Missense_Mutation_p.D107Y|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	397					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTCTCCAAATGATCCTATTTT	0.443000									Oculocutaneous Albinism				24	169					1.42536e-11	1.53963e-11	0.681144	1	0
ITIH4	3700	broad.mit.edu	37	3	52850976	52850976	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:52850976C>G	ENST00000266041.4	-	21	2491	c.2395G>C	c.(2395-2397)Gaa>Caa	p.E799Q	ITIH4_ENST00000406595.1_Missense_Mutation_p.E769Q|ITIH4_ENST00000485816.1_Missense_Mutation_p.E804Q|ITIH4_ENST00000346281.5_Missense_Mutation_p.E783Q	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	799					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCACGTGTTCAGGGGATGCG	0.582000													48	296					0	0	0.870114	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580486	40580486	+	Silent	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:40580486A>G	ENST00000450241.2	-	6	2072	c.1761T>C	c.(1759-1761)gtT>gtC	p.V587V	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.V622V|ZNF780A_ENST00000594395.1_Silent_p.V622V|ZNF780A_ENST00000340963.5_Silent_p.V621V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.V621V			O75290	Z780A_HUMAN	zinc finger protein 780A	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAGACTAAAAACCTTTCCAC	0.413000													39	166					0	0	0.804634	0	0
KCTD11	147040	broad.mit.edu	37	17	7256895	7256895	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:7256895G>C	ENST00000333751.3	+	1	1688	c.634G>C	c.(634-636)Gac>Cac	p.D212H	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	212					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CTTCCGACTAGACTCTGTCTT	0.642000													4	65					0	0	0.150653	0	0
TAF1C	9013	broad.mit.edu	37	16	84214952	84214952	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:84214952C>T	ENST00000567759.1	-	10	1406	c.1224G>A	c.(1222-1224)gtG>gtA	p.V408V	TAF1C_ENST00000541676.1_Silent_p.V315V|TAF1C_ENST00000341690.6_Silent_p.V315V|TAF1C_ENST00000378541.4_Silent_p.V408V|TAF1C_ENST00000566732.1_Silent_p.V382V|TAF1C_ENST00000570117.1_Silent_p.V76V	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	408					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CCAGCATCTTCACTCCGGTGC	0.697000													19	29					0	0	0.557998	0	0
BRD3	8019	broad.mit.edu	37	9	136906945	136906945	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:136906945C>T	ENST00000303407.7	-	8	1529	c.1344G>A	c.(1342-1344)tcG>tcA	p.S448S	BRD3_ENST00000357885.2_Silent_p.S448S|BRD3_ENST00000371834.2_Silent_p.S448S	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	448						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGCCTGAGTCCGAAGAGCTCT	0.701000			T	C15orf55	lethal midline carcinoma of young people								11	39					0	0	0.361761	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884722	24884722	+	Silent	SNP	T	T	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:24884722T>C	ENST00000396432.2	-	19	4122	c.3636A>G	c.(3634-3636)aaA>aaG	p.K1212K	ARHGAP21_ENST00000320481.6_Silent_p.K999K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1211	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AATCTCGCCATTTCTAGGTGT	0.353000													17	71					0	0	0.500413	0	0
PLCH1	23007	broad.mit.edu	37	3	155203166	155203166	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:155203166C>T	ENST00000460012.1	-	22	3220	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	PLCH1_ENST00000494598.1_Missense_Mutation_p.E973K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E993K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E993K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E955K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E955K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	993					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTTTTCCTTCAATGTCTTTT	0.453000													13	198					0	0	0.479597	0	0
DLEC1	9940	broad.mit.edu	37	3	38105339	38105339	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:38105339G>T	ENST00000308059.6	+	6	1123	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000452631.2_Missense_Mutation_p.D368Y|DLEC1_ENST00000346219.3_Missense_Mutation_p.D368Y			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	368					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CAGTTGTGCTGATACTCCAGT	0.378000													33	262					3.03874e-20	3.3387e-20	0.779181	1	0
RP1	6101	broad.mit.edu	37	8	55541429	55541429	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:55541429G>A	ENST00000220676.1	+	4	5135	c.4987G>A	c.(4987-4989)Gaa>Aaa	p.E1663K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1663					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1663Q(1)|p.E1663K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAATTCTGTGGAATTTCAGTG	0.388000													74	225					0	0	0.870114	0	0
ZNF761	388561	broad.mit.edu	37	19	53958797	53958797	+	RNA	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:53958797C>T	ENST00000454407.1	+	0	1489							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACGCCATCATCGACTTCATAC	0.403000													49	198					0	0	0.870114	0	0
PDCL3	79031	broad.mit.edu	37	2	101188229	101188229	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:101188229G>A	ENST00000264254.6	+	5	924	c.546G>A	c.(544-546)ctG>ctA	p.L182L		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	182					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TTGGTCCTCTGGTGTTTGGCG	0.493000													11	235					0	0	0.411799	0	0
PC	5091	broad.mit.edu	37	11	66619400	66619400	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:66619400C>T	ENST00000393960.1	-	16	2124	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	PC_ENST00000393958.2_Missense_Mutation_p.A615T|PC_ENST00000393955.2_Missense_Mutation_p.A615T	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	615	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AAGCGCATGGCGACGTCAAAC	0.637000													7	37					0	0	0.278610	0	0
MAN2A1	4124	broad.mit.edu	37	5	109152986	109152986	+	Silent	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:109152986C>G	ENST00000261483.4	+	13	3008	c.1956C>G	c.(1954-1956)gtC>gtG	p.V652V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	652					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.V652V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACCTTGTGGTCTATAATCCTT	0.373000													24	179					0	0	0.681144	0	0
MYH6	4624	broad.mit.edu	37	14	23858700	23858700	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:23858700C>T	ENST00000405093.3	-	28	3950	c.3880G>A	c.(3880-3882)Gag>Aag	p.E1294K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1294K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1294					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTTTTCCTCTAGCTGCCGG	0.587000													9	159					0	0	0.307466	0	0
TENM2	57451	broad.mit.edu	37	5	167645855	167645855	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:167645855C>G	ENST00000519204.1	+	22	4714	c.4596C>G	c.(4594-4596)gaC>gaG	p.D1532E	TENM2_ENST00000403607.2_Missense_Mutation_p.D1477E|TENM2_ENST00000545108.1_Missense_Mutation_p.D1652E|TENM2_ENST00000518659.1_Missense_Mutation_p.D1653E|TENM2_ENST00000520394.1_Missense_Mutation_p.D1414E					teneurin transmembrane protein 2																		TCATGCCTGACAACCAGATCA	0.522000													27	243					0	0	0.740014	0	0
ZNF483	158399	broad.mit.edu	37	9	114304895	114304895	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:114304895C>T	ENST00000309235.5	+	6	1838	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	560					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GAAAATCCTTCAGTCATAGCT	0.408000													16	140					0	0	0.479597	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47639640	47639640	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:47639640G>T	ENST00000371917.4	+	35	4677	c.4677G>T	c.(4675-4677)ttG>ttT	p.L1559F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1559					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTTGGAATTGATACAGACCA	0.453000													8	219					4.68919e-08	4.94005e-08	0.361761	1	0
CHD9	80205	broad.mit.edu	37	16	53243560	53243560	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:53243560G>A	ENST00000566029.1	+	3	1828	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	CHD9_ENST00000447540.1_Missense_Mutation_p.R540H|CHD9_ENST00000564845.1_Missense_Mutation_p.R540H|CHD9_ENST00000398510.3_Missense_Mutation_p.R540H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	540					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCAAAGGAGCGTGGGGAACGC	0.418000													29	90					0	0	0.740014	0	0
DHX33	56919	broad.mit.edu	37	17	5353646	5353646	+	Silent	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:5353646G>T	ENST00000225296.3	-	10	1805	c.1605C>A	c.(1603-1605)ctC>ctA	p.L535L	DHX33_ENST00000433302.3_Silent_p.L311L	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	535						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGGGTTGTGGAGGACGCTGT	0.522000													8	294					2.74318e-10	2.92606e-10	0.335167	1	0
ALPK3	57538	broad.mit.edu	37	15	85400161	85400161	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:85400161G>A	ENST00000258888.5	+	6	2965	c.2798G>A	c.(2797-2799)aGc>aAc	p.S933N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	933					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGGCAACCAGCCTCGGCCCA	0.582000													27	158					0	0	0.681144	0	0
MEX3B	84206	broad.mit.edu	37	15	82336383	82336383	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:82336383G>A	ENST00000329713.4	-	2	1263	c.828C>T	c.(826-828)ccC>ccT	p.P276P	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	276					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GCTTGCGGCCGGGGGTGGGCG	0.662000													10	46					0	0	0.435327	0	0
HYDIN	54768	broad.mit.edu	37	16	70902676	70902676	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:70902676G>A	ENST00000393567.2	-	66	11257	c.11107C>T	c.(11107-11109)Cct>Tct	p.P3703S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3703										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCACACCCAGGGTGGAGGTGG	0.463000													13	33					0	0	0.435327	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957149	33957149	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:33957149G>T	ENST00000361328.3	+	6	1444	c.1291G>T	c.(1291-1293)Ggg>Tgg	p.G431W	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.G377W	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	431					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCCAGGCTCGGGTATAGTGA	0.597000													4	129					0.150653	0.15244	0.150653	1	0
GTPBP2	54676	broad.mit.edu	37	6	43590532	43590532	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:43590532G>A	ENST00000307126.5	-	10	1304	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.C347C	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	435							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCCCCTCACGGCAAATCCCAC	0.597000													3	46					0	0	0.115264	0	0
TMEM106C	79022	broad.mit.edu	37	12	48359698	48359698	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:48359698C>T	ENST00000429772.2	+	4	442	c.329C>T	c.(328-330)tCa>tTa	p.S110L	TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000552546.1_Missense_Mutation_p.S39L|TMEM106C_ENST00000550552.1_Missense_Mutation_p.S110L|TMEM106C_ENST00000552561.1_Missense_Mutation_p.S110L|TMEM106C_ENST00000256686.6_Missense_Mutation_p.S110L|TMEM106C_ENST00000449758.2_Missense_Mutation_p.S110L	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	110						endoplasmic reticulum membrane|integral to membrane		p.S110L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TTTCCGCATTCAGTCCTTGTG	0.448000													200	368					0	0	0.870114	0	0
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597000													5	288					0	0	0.184627	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													9	107					0	0	0.411799	0	0
RAI1	10743	broad.mit.edu	37	17	17701461	17701461	+	Silent	SNP	G	G	A	rs146112263	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:17701461G>A	ENST00000353383.1	+	3	5668	c.5199G>A	c.(5197-5199)tcG>tcA	p.S1733S	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1733						cytoplasm|nucleus	zinc ion binding	p.S1733S(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAGGCCTCGCTGCCGCTTG	0.642000													10	49					0	0	0.335167	0	0
RUFY4	285180	broad.mit.edu	37	2	218954013	218954013	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:218954013C>G	ENST00000374155.3	+	11	2011	c.1601C>G	c.(1600-1602)tCt>tGt	p.S534C	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.S514C			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	514							metal ion binding	p.S534C(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGCATCTCTCTTCCATGGCT	0.542000													8	53					0	0	0.278610	0	0
LPAR4	2846	broad.mit.edu	37	X	78010407	78010407	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:78010407C>G	ENST00000435339.2	+	2	446	c.41C>G	c.(40-42)tCa>tGa	p.S14*	RP11-475D8.1_ENST00000514744.1_RNA|LPAR4_ENST00000373301.2_Nonsense_Mutation_p.S14*	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	14						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.S14*(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTCCAAGATTCAAATTCAAGC	0.448000													27	125					0	0	0.693898	0	0
KIF13A	63971	broad.mit.edu	37	6	17797042	17797042	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:17797042C>A	ENST00000378814.5	-	23	2799	c.2800G>T	c.(2800-2802)Gtg>Ttg	p.V934L	KIF13A_ENST00000378816.5_Missense_Mutation_p.V934L|KIF13A_ENST00000378826.2_Missense_Mutation_p.V934L|KIF13A_ENST00000259711.6_Missense_Mutation_p.V934L|KIF13A_ENST00000378843.2_Missense_Mutation_p.V934L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	934					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)			GTTACATTCACCACATAGTCC	0.423000													12	66					0.00010058	0.000103824	0.411799	1	0
GTF3C3	9330	broad.mit.edu	37	2	197656160	197656160	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:197656160G>A	ENST00000263956.3	-	4	525	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	GTF3C3_ENST00000409364.3_Missense_Mutation_p.P146S|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	146						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGAGCTCTGGGAAGTTTACTC	0.393000													6	109					0	0	0.307466	0	0
PRPS1	5631	broad.mit.edu	37	X	106882553	106882553	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:106882553G>C	ENST00000372435.4	+	2	273	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	PRPS1_ENST00000543248.1_Missense_Mutation_p.E51Q|PRPS1_ENST00000372419.3_Missense_Mutation_p.E51Q|PRPS1_ENST00000372428.4_5'UTR	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	51					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TGTACGTGGAGAGGATGTCTA	0.408000													56	289					0	0	0.870114	0	0
PDE10A	10846	broad.mit.edu	37	6	165746557	165746557	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:165746557G>A	ENST00000366882.1	-	23	2451	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	PDE10A_ENST00000354448.4_Missense_Mutation_p.S766L|PDE10A_ENST00000539869.2_Missense_Mutation_p.S776L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	766					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GGATGGGGATGAAATCCAGGT	0.502000													30	185					0	0	0.750413	0	0
MUC16	94025	broad.mit.edu	37	19	9076191	9076191	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:9076191G>A	ENST00000397910.4	-	3	11458	c.11255C>T	c.(11254-11256)tCa>tTa	p.S3752L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3753	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S3752L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGGAGCTGAGGTAGTGGC	0.522000													34	66					0	0	0.864702	0	0
TBC1D2	55357	broad.mit.edu	37	9	100971416	100971416	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:100971416C>T	ENST00000375066.5	-	9	1775	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E344K|TBC1D2_ENST00000375063.1_Missense_Mutation_p.E102K|TBC1D2_ENST00000375064.1_Missense_Mutation_p.E562K	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	562						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AAGCCGTACTCATCATACTTA	0.577000													63	342					0	0	0.870114	0	0
MEFV	4210	broad.mit.edu	37	16	3293683	3293683	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:3293683G>T	ENST00000219596.1	-	10	1843	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.L422M|MEFV_ENST00000536379.1_Missense_Mutation_p.L391M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	602	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TCTGCATCCAGAATCACATTA	0.498000													64	375					5.82089e-37	6.5072e-37	0.870114	1	0
TRPM4	54795	broad.mit.edu	37	19	49693515	49693515	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:49693515C>G	ENST00000252826.5	+	15	2196	c.2070C>G	c.(2068-2070)atC>atG	p.I690M	TRPM4_ENST00000427978.2_Missense_Mutation_p.I690M|TRPM4_ENST00000355712.5_Missense_Mutation_p.I336M	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	690					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.I690M(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTACACCCATCTGGGCCCTGG	0.602000													53	364					0	0	0.870114	0	0
WFDC8	90199	broad.mit.edu	37	20	44180733	44180733	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:44180733C>T	ENST00000357199.4	-	6	736	c.658G>A	c.(658-660)Gag>Aag	p.E220K	WFDC8_ENST00000289953.2_Missense_Mutation_p.E220K	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	220	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GGGCACTCCTCATCCTGCAGG	0.423000													8	305					0	0	0.278610	0	0
CARD10	29775	broad.mit.edu	37	22	37892475	37892475	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:37892475G>A	ENST00000403299.1	-	14	2256	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P	CARD10_ENST00000406271.3_Silent_p.P394P|CARD10_ENST00000251973.5_Silent_p.P680P			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	680					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCATCAGGGAGGGGAGTGTGG	0.637000													19	91					0	0	0.608945	0	0
ECE1	1889	broad.mit.edu	37	1	21585219	21585219	+	Silent	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:21585219G>C	ENST00000415912.2	-	6	806	c.681C>G	c.(679-681)gcC>gcG	p.A227A	ECE1_ENST00000357071.4_Silent_p.A231A|ECE1_ENST00000264205.6_Silent_p.A240A|ECE1_ENST00000436918.2_Silent_p.A243A|ECE1_ENST00000374893.6_Silent_p.A243A	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	243					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCTTGGAATCGGCACTGACAT	0.572000													8	115					0	0	0.278610	0	0
KIAA0430	9665	broad.mit.edu	37	16	15733071	15733071	+	Translation_Start_Site	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:15733071G>T	ENST00000344181.3	-	0	212				KIAA0430_ENST00000548025.1_Missense_Mutation_p.T7N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T7N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.T7N|KIAA0430_ENST00000396368.3_Missense_Mutation_p.T7N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.T7N			Q9Y4F3	LKAP_HUMAN	KIAA0430							peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGAGTTCTCAGTTCCGTTTCC	0.408000													5	269					0.000602214	0.000619144	0.184627	1	0
SPECC1L	23384	broad.mit.edu	37	22	24718349	24718349	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:24718349C>T	ENST00000314328.9	+	5	1686	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	KB-1896H10.1_ENST00000358654.2_Silent_p.R467R|SPECC1L_ENST00000541492.1_Silent_p.R467R|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Silent_p.R467R	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	467					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AATACTTCCGCTCTCTTCTAG	0.408000													43	218					0	0	0.840704	0	0
IRX1	79192	broad.mit.edu	37	5	3599879	3599879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:3599879G>A	ENST00000302006.3	+	2	869	c.817G>A	c.(817-819)Gac>Aac	p.D273N	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	273						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCAGCAGCCGACGTTCTCAA	0.726000													8	8					0	0	0.335167	0	0
TF	7018	broad.mit.edu	37	3	133476692	133476692	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:133476692C>G	ENST00000402696.3	+	8	1435	c.950C>G	c.(949-951)tCt>tGt	p.S317C	TF_ENST00000264998.3_Missense_Mutation_p.S190C	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	317	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TTTAAGGACTCTGCCCACGGG	0.458000													20	191					0	0	0.592651	0	0
CSMD3	114788	broad.mit.edu	37	8	113323263	113323263	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:113323263C>A	ENST00000297405.5	-	50	8073	c.7829G>T	c.(7828-7830)tGc>tTc	p.C2610F	CSMD3_ENST00000343508.3_Missense_Mutation_p.C2570F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C2540F|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2506F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2610	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACTTTCTGCACACAGCACT	0.463000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	141					5.3912e-06	5.65635e-06	0.539581	1	0
WIZ	58525	broad.mit.edu	37	19	15547866	15547866	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:15547866C>T	ENST00000389282.4	-	4	2560	c.2347G>A	c.(2347-2349)Ggc>Agc	p.G783S	WIZ_ENST00000263381.6_Missense_Mutation_p.G94S|WIZ_ENST00000595214.2_5'UTR			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	783						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGGAGAGGCCGGCCCGTGTG	0.632000													6	25					0	0	0.217242	0	0
CARS2	79587	broad.mit.edu	37	13	111340150	111340150	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr13:111340150C>T	ENST00000257347.4	-	5	552	c.489G>A	c.(487-489)ctG>ctA	p.L163L	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	163					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CGGTTACCCTCAGGTACACCG	0.483000													42	176					0	0	0.834066	0	0
ZNF12	7559	broad.mit.edu	37	7	6732045	6732045	+	Silent	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:6732045G>C	ENST00000405858.1	-	5	1069	c.528C>G	c.(526-528)ctC>ctG	p.L176L	ZNF12_ENST00000404360.1_Silent_p.L102L|ZNF12_ENST00000342651.5_Silent_p.L138L|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	176					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTTAATATGGAGGAGTGATT	0.343000													12	90					0	0	0.387290	0	0
SYMPK	8189	broad.mit.edu	37	19	46324705	46324705	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:46324705C>T	ENST00000245934.7	-	22	3074	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	944					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATCAGGAGCTCTCCAGGGTTC	0.587000													3	61					0	0	0.115264	0	0
PVRL2	5819	broad.mit.edu	37	19	45381751	45381751	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:45381751G>A	ENST00000252485.4	+	6	1665	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	497					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCAaggatgaggaggaggagg	0.587000													10	43					0	0	0.335167	0	0
ZNF430	80264	broad.mit.edu	37	19	21240159	21240159	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:21240159G>A	ENST00000261560.5	+	5	1226	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E349K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAAATGTGAAGAATGTGGCAA	0.393000													56	98					0	0	0.870114	0	0
NPY5R	4889	broad.mit.edu	37	4	164272702	164272702	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:164272702G>T	ENST00000515560.1	+	4	2799	c.1277G>T	c.(1276-1278)gGg>gTg	p.G426V	NPY5R_ENST00000506953.1_Missense_Mutation_p.G426V|NPY5R_ENST00000338566.3_Missense_Mutation_p.G426V			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	426					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATTCTATATGGGTTTCTTAAT	0.333000													24	131					1.10923e-09	1.17827e-09	0.639603	1	0
ZNF483	158399	broad.mit.edu	37	9	114304990	114304990	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:114304990C>T	ENST00000309235.5	+	6	1933	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	592					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGGCAGAATTCATGCCTTACC	0.398000													13	104					0	0	0.411799	0	0
POPDC2	64091	broad.mit.edu	37	3	119367500	119367500	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:119367500C>T	ENST00000493094.1	-	3	1075	c.616G>A	c.(616-618)Gag>Aag	p.E206K	POPDC2_ENST00000538678.1_Missense_Mutation_p.E206K|POPDC2_ENST00000264231.3_Missense_Mutation_p.E206K|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000468801.1_Missense_Mutation_p.E206K			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	206						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CATGAGGTCTCAGCAGTCAGA	0.473000													9	86					0	0	0.361761	0	0
TRIML2	205860	broad.mit.edu	37	4	189026443	189026443	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:189026443C>T	ENST00000536972.1	-	2	327	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	TRIML2_ENST00000512729.1_5'UTR			Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	178							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ACAGAACAGCCGTGTTGGTTC	0.502000													61	123					0	0	0.870114	0	0
PIWIL3	440822	broad.mit.edu	37	22	25155901	25155901	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:25155901G>A	ENST00000332271.5	-	3	574	c.158C>T	c.(157-159)cCa>cTa	p.P53L	PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	53					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTAACCACTGGGACTTCCTC	0.567000													110	640					0	0	0.870114	0	0
CYLD	1540	broad.mit.edu	37	16	50788321	50788321	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:50788321A>G	ENST00000540145.1	+	6	1314	c.899A>G	c.(898-900)aAt>aGt	p.N300S	CYLD_ENST00000398568.2_Missense_Mutation_p.N300S|CYLD_ENST00000427738.3_Missense_Mutation_p.N300S|CYLD_ENST00000566206.1_Missense_Mutation_p.N300S|CYLD_ENST00000311559.9_Missense_Mutation_p.N300S|CYLD_ENST00000564326.1_Missense_Mutation_p.N300S|CYLD_ENST00000569418.1_Missense_Mutation_p.N300S|CYLD_ENST00000568704.2_Missense_Mutation_p.N300S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	300	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTGCACATCAATGATATCATC	0.308000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				8	51					0	0	0.307466	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273401	139273401	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:139273401C>T	ENST00000298532.2	-	21	3246	c.2878G>A	c.(2878-2880)Gca>Aca	p.A960T		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	960	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGTTTGGCTGCCGCGGGGGCC	0.657000													5	13					0	0	0.184627	0	0
CMA1	1215	broad.mit.edu	37	14	24976609	24976609	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:24976609G>C	ENST00000250378.3	-	2	191	c.162C>G	c.(160-162)ttC>ttG	p.F54L	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	54	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GTCTTATAAGGAAACCACCAC	0.483000													58	273					0	0	0.870114	0	0
PYROXD2	84795	broad.mit.edu	37	10	100167372	100167372	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:100167372C>T	ENST00000370575.4	-	4	330	c.282G>A	c.(280-282)ctG>ctA	p.L94L	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	94							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCTGCGGCCTCAGCAGGCTGA	0.607000													6	45					0	0	0.217242	0	0
FANCB	2187	broad.mit.edu	37	X	14883405	14883405	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:14883405G>C	ENST00000398334.1	-	3	495	c.228C>G	c.(226-228)atC>atG	p.I76M	FANCB_ENST00000324138.3_Missense_Mutation_p.I76M	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	76					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TGCAACACATGATTTTTAAAT	0.299000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	101					0	0	0.184627	0	0
COG1	9382	broad.mit.edu	37	17	71193179	71193179	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:71193179G>A	ENST00000299886.4	+	3	781	c.701G>A	c.(700-702)aGa>aAa	p.R234K		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	234					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGCTGGCCAGAAAGGCAACT	0.522000													6	54					0	0	0.307466	0	0
LTBP1	4052	broad.mit.edu	37	2	33487804	33487804	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:33487804G>C	ENST00000404816.2	+	14	2787	c.2434G>C	c.(2434-2436)Gat>Cat	p.D812H	LTBP1_ENST00000418533.2_Missense_Mutation_p.D486H|LTBP1_ENST00000402934.1_Missense_Mutation_p.D433H|LTBP1_ENST00000407925.1_Missense_Mutation_p.D486H|LTBP1_ENST00000390003.4_Missense_Mutation_p.D486H|LTBP1_ENST00000354476.3_Missense_Mutation_p.D812H|LTBP1_ENST00000404525.1_Missense_Mutation_p.D433H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	812					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTTCATTGGATCAAGAGAA	0.368000													11	107					0	0	0.361761	0	0
FBXO44	93611	broad.mit.edu	37	1	11718444	11718444	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:11718444C>T	ENST00000376770.1	+	4	884	c.386C>T	c.(385-387)tCa>tTa	p.S129L	FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376768.1_Intron|FBXO44_ENST00000251547.5_Missense_Mutation_p.S129L|FBXO44_ENST00000251546.4_Intron	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	129	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGTTACTTCATATTAGTAA	0.527000													15	135					0	0	0.520397	0	0
OAS2	4939	broad.mit.edu	37	12	113445710	113445710	+	Silent	SNP	C	C	T	rs45514594	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:113445710C>T	ENST00000392583.2	+	9	2064	c.1857C>T	c.(1855-1857)acC>acT	p.T619T	OAS2_ENST00000342315.4_Silent_p.T619T|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	619	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAGATGAGACCGTGAGGAAGT	0.483000													5	322					0	0	0.248553	0	0
CACNG7	59284	broad.mit.edu	37	19	54445546	54445546	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:54445546G>A	ENST00000391767.1	+	6	1039	c.827G>A	c.(826-828)tGa>tAa	p.*276*	CACNG7_ENST00000222212.2_Silent_p.*276*			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	0					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.*276*(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCGCCCTGCTGAGGCCCGCCC	0.662000													48	209					0	0	0.870114	0	0
TACC3	10460	broad.mit.edu	37	4	1730363	1730363	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr4:1730363G>A	ENST00000313288.4	+	4	1340	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	412						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAAAATGGATGACCCAAACTT	0.632000													25	95					0	0	0.639603	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405217	23405217	+	Silent	SNP	T	T	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:23405217T>C	ENST00000418100.1	-	4	1947	c.1830A>G	c.(1828-1830)aaA>aaG	p.K610K																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						CAGCATGAATTTTCTTGTGTG	0.418000													5	27					0	0	0.184627	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819671	50819671	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:50819671C>T	ENST00000374115.3	+	1	1325	c.885C>T	c.(883-885)gcC>gcT	p.A295A	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	295					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.A295A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCGTGGTGGCCGGCGCGCTCA	0.642000													17	108					0	0	0.608945	0	0
RP1L1	94137	broad.mit.edu	37	8	10465030	10465030	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:10465030G>A	ENST00000382483.3	-	4	6801	c.6578C>T	c.(6577-6579)tCa>tTa	p.S2193L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2193					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TATACCTTCTGACTCTGGCTG	0.607000													29	403					0	0	0.812448	0	0
SLC25A24	29957	broad.mit.edu	37	1	108735216	108735216	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:108735216A>G	ENST00000370041.4	-	1	224	c.28T>C	c.(28-30)Tgg>Cgg	p.W10R	SLC25A24_ENST00000565488.1_Intron	NM_213651.2	NP_998816.1	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	29					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.W10R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TCCAGGTACCAAAAGAGATCT	0.567000													279	215					0	0	0.870114	0	0
RREB1	6239	broad.mit.edu	37	6	7229784	7229784	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:7229784C>T	ENST00000379938.2	+	10	1989	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	RREB1_ENST00000334984.6_Silent_p.I484I|RREB1_ENST00000379933.3_Silent_p.I484I|RREB1_ENST00000349384.6_Silent_p.I484I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	484	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCCTCAGATCAGTCTTCCGC	0.617000													11	474					0	0	0.361761	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883477	7883477	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:7883477G>T	ENST00000542353.1	-	6	903	c.413C>A	c.(412-414)tCt>tAt	p.S138Y	CLEC4C_ENST00000540085.1_Missense_Mutation_p.S107Y|CLEC4C_ENST00000354629.5_Missense_Mutation_p.S107Y|CLEC4C_ENST00000360345.3_Missense_Mutation_p.S138Y	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	138	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.S138Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AAAATAAGAAGAATTTCTTTT	0.463000													52	106					2.17126e-26	2.40624e-26	0.870114	1	0
GCFC2	6936	broad.mit.edu	37	2	75915055	75915055	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:75915055C>T	ENST00000321027.3	-	11	1721	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.E492K|MRPL19_ENST00000358788.6_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	530					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TCCATAAATTCTTCTACAGAT	0.318000													4	134					0	0	0.184627	0	0
PCDH12	51294	broad.mit.edu	37	5	141336463	141336463	+	Silent	SNP	G	G	A	rs148884293	by1000genomes	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:141336463G>A	ENST00000231484.3	-	1	2164	c.954C>T	c.(952-954)taC>taT	p.Y318Y		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	318	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACCTCGTAGGCAGGGT	0.517000													16	98					0	0	0.520397	0	0
NAA25	80018	broad.mit.edu	37	12	112492280	112492280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:112492280G>A	ENST00000261745.4	-	14	1788	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	514						cytoplasm	protein binding	p.R514*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CAGTAGATTCGAACAAGCAGC	0.478000													21	86					0	0	0.592651	0	0
FUT4	2526	broad.mit.edu	37	11	94278550	94278550	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:94278550G>A	ENST00000358752.2	+	1	1534	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	RP11-867G2.8_ENST00000536540.1_RNA	NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	417					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity	p.Q417H(1)		central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGAACTCGCAGCACCTGGATT	0.652000													3	39					0	0	0.115264	0	0
KCNK9	51305	broad.mit.edu	37	8	140631107	140631107	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:140631107G>A	ENST00000520439.1	-	2	582	c.519C>T	c.(517-519)atC>atT	p.I173I	KCNK9_ENST00000303015.1_Silent_p.I173I			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	173						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGGCCGCCCCGATGCACAGCG	0.562000													12	69					0	0	0.411799	0	0
UNC13C	440279	broad.mit.edu	37	15	54306794	54306794	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:54306794C>T	ENST00000545554.1	+	1	1694	c.1694C>T	c.(1693-1695)tCa>tTa	p.S565L	UNC13C_ENST00000260323.11_Missense_Mutation_p.S565L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S565L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	565					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAGATTTTTCAGAAAATCAG	0.423000													9	74					0	0	0.307466	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439815	150439815	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:150439815G>C	ENST00000358647.3	+	3	955	c.588G>C	c.(586-588)caG>caC	p.Q196H	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGAGGAGCAGAGGCAGCAGC	0.582000													26	66					0	0	0.654019	0	0
HAUS8	93323	broad.mit.edu	37	19	17173586	17173586	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:17173586G>A	ENST00000253669.5	-	4	341	c.151C>T	c.(151-153)Cct>Tct	p.P51S	HAUS8_ENST00000593360.1_5'UTR|HAUS8_ENST00000448593.2_Missense_Mutation_p.P51S			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	51					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TCTCCTGCAGGAGCCTGTTAT	0.532000													13	88					0	0	0.479597	0	0
GCNT2	2651	broad.mit.edu	37	6	10621646	10621646	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:10621646G>A	ENST00000379597.3	+	2	1544	c.988G>A	c.(988-990)Gac>Aac	p.D330N	GCNT2_ENST00000495262.1_Missense_Mutation_p.D330N|GCNT2_ENST00000265012.4_Missense_Mutation_p.D330N|GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000410107.1_Missense_Mutation_p.D44N|GCNT2_ENST00000316170.3_Missense_Mutation_p.D328N			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	330						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AAAGTGGAGTGACATGGAAGA	0.507000													6	48					0	0	0.248553	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428095	79428095	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:79428095G>A	ENST00000307745.7	+	30	6406	c.6406G>A	c.(6406-6408)Gag>Aag	p.E2136K	RP11-1055B8.8_ENST00000572590.1_RNA														p.E2136K(1)									GCGGGCCCGCGAGGCCCTGTT	0.682000													4	18					0	0	0.150653	0	0
KCNH1	3756	broad.mit.edu	37	1	211192356	211192356	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:211192356G>A	ENST00000367007.4	-	6	970	c.801C>T	c.(799-801)ctC>ctT	p.L267L	KCNH1_ENST00000271751.4_Silent_p.L267L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	267					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TATGAAAATTGAGCACAATGT	0.453000													21	159					0	0	0.592651	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873085	51873085	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:51873085G>C	ENST00000371497.5	+	2	3975	c.3088G>C	c.(3088-3090)Gac>Cac	p.D1030H	TSHZ2_ENST00000603338.2_Missense_Mutation_p.D1027H|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D1027H|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1030					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTTTGTAACAGACGTGGATGA	0.483000													7	216					0	0	0.307466	0	0
MPC1	51660	broad.mit.edu	37	6	166796324	166796324	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:166796324C>T	ENST00000341756.6	-	1	162	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000360961.6_Missense_Mutation_p.R14Q					mitochondrial pyruvate carrier 1																		ATCCTTGCTTCGGACATAGTC	0.687000													3	26					0	0	0.115264	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925239	67925239	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:67925239C>G	ENST00000304363.4	-	11	2927	c.2574G>C	c.(2572-2574)ttG>ttC	p.L858F		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	858					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.L858F(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTATTAACCTCAAGCGCTTAG	0.403000													17	73					0	0	0.500413	0	0
LINC00886	730091	broad.mit.edu	37	3	156527874	156527874	+	RNA	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:156527874A>G	ENST00000472943.1	-	0	148					NR_038387.1																						TGTCAAATTCAGCTTTTTCAT	0.438000													4	96					0	0	0.184627	0	0
PRPF6	24148	broad.mit.edu	37	20	62616302	62616302	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:62616302G>A	ENST00000535781.1	+	3	394	c.283G>A	c.(283-285)Gag>Aag	p.E95K	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	95					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TGGACCCTACGAGAAAGATGA	0.448000													14	63					0	0	0.479597	0	0
FBN3	84467	broad.mit.edu	37	19	8156457	8156457	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:8156457C>G	ENST00000600128.1	-	48	6337	c.5923G>C	c.(5923-5925)Gag>Cag	p.E1975Q	FBN3_ENST00000601739.1_Missense_Mutation_p.E1975Q|FBN3_ENST00000270509.2_Missense_Mutation_p.E1975Q			Q75N90	FBN3_HUMAN	fibrillin 3	1975	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTGGGCTCCTCTGAGCACTCG	0.602000													16	95					0	0	0.500413	0	0
C10orf82	143379	broad.mit.edu	37	10	118425270	118425270	+	Silent	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:118425270G>T	ENST00000369210.3	-	3	177	c.123C>A	c.(121-123)acC>acA	p.T41T	C10orf82_ENST00000588184.1_Silent_p.T41T	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	41										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TCTCCTGGAAGGTTTTCACAC	0.532000													11	103					0.00136819	0.00139545	0.411799	1	0
TEKT3	64518	broad.mit.edu	37	17	15217494	15217494	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:15217494G>A	ENST00000395930.1	-	6	974	c.788C>T	c.(787-789)aCg>aTg	p.T263M	TEKT3_ENST00000338696.2_Missense_Mutation_p.T263M	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	263					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CCGGTAAGCCGTCTGTTTGTC	0.557000													11	64					0	0	0.435327	0	0
NRIP2	83714	broad.mit.edu	37	12	2939891	2939891	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:2939891G>A	ENST00000337508.4	-	2	518	c.478C>T	c.(478-480)Ctt>Ttt	p.L160F		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	160					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	p.L160F(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TTGACCAGAAGAGCTGGAATC	0.572000													32	62					0	0	0.760397	0	0
AGL	178	broad.mit.edu	37	1	100357191	100357191	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:100357191C>T	ENST00000294724.4	+	23	3457	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F	AGL_ENST00000370163.3_Silent_p.F993F|AGL_ENST00000370161.2_Silent_p.F977F|AGL_ENST00000361302.3_Silent_p.F977F|AGL_ENST00000370165.3_Silent_p.F993F|AGL_ENST00000361915.3_Silent_p.F993F|AGL_ENST00000361522.4_Silent_p.F976F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	993					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTATGTTCTTCTACCTGAAGC	0.363000													32	205					0	0	0.779181	0	0
ANO4	121601	broad.mit.edu	37	12	101493406	101493406	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:101493406C>A	ENST00000392979.3	+	21	2313	c.1952C>A	c.(1951-1953)cCt>cAt	p.P651H	ANO4_ENST00000299222.9_Missense_Mutation_p.P206H|ANO4_ENST00000550015.1_Missense_Mutation_p.P206H|ANO4_ENST00000392977.3_Missense_Mutation_p.P686H	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	686						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACATGGACCTGAAAGGAAA	0.363000										HNSCC(74;0.22)			48	84					2.13384e-23	2.35458e-23	0.870114	1	0
LRRCC1	85444	broad.mit.edu	37	8	86037161	86037161	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:86037161A>C	ENST00000414626.2	+	7	2088	c.1199A>C	c.(1198-1200)gAc>gCc	p.D400A	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D420A			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	420					cell division|mitosis	centriole|nucleus		p.D420A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CACTCAGAAGACAACACTTAC	0.299000													36	89					0	0	0.804634	0	0
NAV2	89797	broad.mit.edu	37	11	20067214	20067214	+	Silent	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:20067214C>A	ENST00000396085.1	+	14	4261	c.3900C>A	c.(3898-3900)cgC>cgA	p.R1300R	NAV2_ENST00000311043.8_Silent_p.R386R|NAV2_ENST00000396087.3_Silent_p.R1323R|NAV2_ENST00000527559.2_Silent_p.R1252R|NAV2_ENST00000540292.1_Silent_p.R1254R|NAV2_ENST00000533917.1_Silent_p.R386R|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Silent_p.R1236R|NAV2_ENST00000349880.4_Silent_p.R1300R	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1323						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCACACTCCGCAGGTAAGTGA	0.517000													16	39					5.01169e-05	5.19431e-05	0.520397	1	0
KIF11	3832	broad.mit.edu	37	10	94376578	94376578	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:94376578G>A	ENST00000260731.3	+	9	1207	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	373					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACCAAAAAAGCTCTTATTAA	0.323000													16	89					0	0	0.520397	0	0
IARS	3376	broad.mit.edu	37	9	95050073	95050073	+	Splice_Site	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:95050073C>T	ENST00000375643.3	-	4	662	c.396_splice	c.e4+1	p.K132_splice	IARS_ENST00000447699.2_Splice_Site_p.K22_splice|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Splice_Site_p.K132_splice	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	132					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CCCAACATACCTTCCACTCAG	0.383000													31	176					0	0	0.769981	0	0
IKZF5	64376	broad.mit.edu	37	10	124753991	124753991	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:124753991G>A	ENST00000368886.5	-	5	885	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CTATAGCCCAGATTGCTTGTT	0.413000													43	279					0	0	0.864702	0	0
MACC1	346389	broad.mit.edu	37	7	20198241	20198241	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:20198241G>A	ENST00000400331.5	-	5	2051	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	MACC1_ENST00000589011.1_Silent_p.L581L|MACC1_ENST00000332878.4_Silent_p.L581L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	581	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TACCTTCCCCGAGGAGAGCTA	0.418000													13	301					0	0	0.411799	0	0
ESM1	11082	broad.mit.edu	37	5	54275189	54275189	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:54275189C>T	ENST00000381405.4	-	3	671	c.526G>A	c.(526-528)Gta>Ata	p.V176I	ESM1_ENST00000598310.1_5'UTR|ESM1_ENST00000381403.4_Missense_Mutation_p.V126I	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	176					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCCTCATTACGGGAGACCCG	0.438000													35	196					0	0	0.804634	0	0
ATRNL1	26033	broad.mit.edu	37	10	116889158	116889158	+	Silent	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:116889158A>G	ENST00000355044.3	+	5	816	c.690A>G	c.(688-690)caA>caG	p.Q230Q	ATRNL1_ENST00000527407.1_Silent_p.Q230Q|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	230	EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTCCAAGTCAAGTATATTGTG	0.373000													6	115					0	0	0.217242	0	0
CCDC87	55231	broad.mit.edu	37	11	66358638	66358638	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:66358638C>T	ENST00000333861.3	-	1	1916	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	617										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACCTCTTCTTCATGCATTTGA	0.468000													44	144					0	0	0.864702	0	0
DCHS1	8642	broad.mit.edu	37	11	6643167	6643167	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:6643167G>A	ENST00000299441.3	-	21	10151	c.9740C>T	c.(9739-9741)tCa>tTa	p.S3247L	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3247					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S3247L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCAGCTGAGGACAGGGA	0.632000													8	20					0	0	0.335167	0	0
FUBP1	8880	broad.mit.edu	37	1	78428560	78428560	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:78428560C>G	ENST00000370767.1	-	14	1326	c.1239G>C	c.(1237-1239)caG>caC	p.Q413H	FUBP1_ENST00000436586.2_Missense_Mutation_p.Q434H|FUBP1_ENST00000370768.2_Missense_Mutation_p.Q413H			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	413	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAGGATTTCTCTGAAGTTCTA	0.383000			"""F, N"""		oligodendroglioma								31	242					0	0	0.779181	0	0
CUL7	9820	broad.mit.edu	37	6	43006428	43006428	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:43006428C>T	ENST00000535468.1	-	24	4781	c.4695G>A	c.(4693-4695)gcG>gcA	p.A1565A	CUL7_ENST00000265348.3_Silent_p.A1481A	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1481					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCACAGAGACCGCCTTCAGAG	0.577000													19	149					0	0	0.539581	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205789	36205789	+	Silent	SNP	T	T	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:36205789T>C	ENST00000392197.2	+	3	579	c.261T>C	c.(259-261)ccT>ccC	p.P87P	ZBTB32_ENST00000262630.3_Silent_p.P87P			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	87	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCTGCAGCCTGGAGAGCTAA	0.627000													3	150					0	0	0.150653	0	0
CCDC87	55231	broad.mit.edu	37	11	66358149	66358149	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:66358149C>G	ENST00000333861.3	-	1	2405	c.2338G>C	c.(2338-2340)Gag>Cag	p.E780Q		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	780										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAAGAAGACTCCATTAAGTTG	0.498000													43	237					0	0	0.847076	0	0
SOBP	55084	broad.mit.edu	37	6	107955074	107955074	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:107955074C>T	ENST00000317357.5	+	6	1685	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	342							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ACTGCTCTGTCACTAAAATCC	0.642000													22	123					0	0	0.667858	0	0
FAM135B	51059	broad.mit.edu	37	8	139163666	139163666	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:139163666C>G	ENST00000395297.1	-	13	3222	c.3052G>C	c.(3052-3054)Gag>Cag	p.E1018Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1018								p.E1018Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTAAAGGTCTCTGCAGAAGTC	0.522000										HNSCC(54;0.14)			31	51					0	0	0.729181	0	0
FGFR4	2264	broad.mit.edu	37	5	176524631	176524631	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:176524631C>T	ENST00000292408.4	+	18	2608	c.2363C>T	c.(2362-2364)cCa>cTa	p.P788L	FGFR4_ENST00000502906.1_Missense_Mutation_p.P788L|FGFR4_ENST00000393637.1_Missense_Mutation_p.P748L|FGFR4_ENST00000292410.3_Missense_Mutation_p.P748L|FGFR4_ENST00000393648.2_Missense_Mutation_p.P720L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	788					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GACCCCCTGCCATTGGGATCC	0.642000										TSP Lung(9;0.080)			17	82					0	0	0.539581	0	0
ADCY3	109	broad.mit.edu	37	2	25042974	25042974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:25042974C>T	ENST00000260600.5	-	21	4113	c.3262G>A	c.(3262-3264)Gaa>Aaa	p.E1088K	ADCY3_ENST00000405392.1_Missense_Mutation_p.E675K|CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1088					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ACTTGGGTTTCTTCTACCACC	0.612000													8	82					0	0	0.361761	0	0
PRMT5	10419	broad.mit.edu	37	14	23395383	23395383	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:23395383G>A	ENST00000324366.8	-	7	959	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.L185F|PRMT5_ENST00000397441.2_Missense_Mutation_p.L229F|PRMT5_ENST00000538452.1_Missense_Mutation_p.L140F|PRMT5_ENST00000553897.1_Missense_Mutation_p.L202F|PRMT5_ENST00000553641.1_5'UTR	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	246					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.L246F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATCTTAGAAAGAACAGGAAAT	0.478000													49	133					0	0	0.870114	0	0
FN1	2335	broad.mit.edu	37	2	216292957	216292957	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:216292957C>T	ENST00000354785.4	-	6	1159	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	FN1_ENST00000426059.1_Missense_Mutation_p.G264S|FN1_ENST00000359671.1_Missense_Mutation_p.G264S|FN1_ENST00000432072.2_Missense_Mutation_p.G264S|FN1_ENST00000446046.1_Missense_Mutation_p.G264S|FN1_ENST00000356005.4_Missense_Mutation_p.G264S|FN1_ENST00000421182.1_Missense_Mutation_p.G264S|FN1_ENST00000323926.6_Missense_Mutation_p.G264S|FN1_ENST00000443816.1_Missense_Mutation_p.G264S|FN1_ENST00000357009.2_Missense_Mutation_p.G264S|FN1_ENST00000346544.3_Missense_Mutation_p.G264S|FN1_ENST00000336916.4_Missense_Mutation_p.G264S|FN1_ENST00000357867.4_Missense_Mutation_p.G264S|FN1_ENST00000345488.5_Missense_Mutation_p.G264S			P02751	FINC_HUMAN	fibronectin 1	264	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.G264S(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCCTCGGCCGTTGCCTGTG	0.557000													43	96					0	0	0.859065	0	0
IZUMO2	126123	broad.mit.edu	37	19	50666297	50666297	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:50666297C>T	ENST00000293405.3	-	1	155	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	52						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGCCCCGGCGCGCGCCTGCAG	0.667000													5	51					0	0	0.184627	0	0
SPATA6	54558	broad.mit.edu	37	1	48918776	48918776	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:48918776C>G	ENST00000371847.3	-	2	243	c.79G>C	c.(79-81)Gac>Cac	p.D27H	SPATA6_ENST00000371843.3_Missense_Mutation_p.D27H|SPATA6_ENST00000396199.3_5'UTR|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	27					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.D27H(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCCTCTTTGTCTTTAAGCACG	0.388000													49	87					0	0	0.870114	0	0
PTRH2	51651	broad.mit.edu	37	17	57775025	57775025	+	Silent	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:57775025G>C	ENST00000470557.2	-	1	3761	c.315C>G	c.(313-315)ctC>ctG	p.L105L	PTRH2_ENST00000537860.1_Silent_p.L105L|PTRH2_ENST00000393038.2_Silent_p.L105L|PTRH2_ENST00000409433.2_Silent_p.L106L			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	105					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCCATTGTTTGAGCATTTCAG	0.463000													11	242					0	0	0.361761	0	0
MAU2	23383	broad.mit.edu	37	19	19465201	19465201	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:19465201C>T	ENST00000392313.5	+	17	1632	c.1586C>T	c.(1585-1587)gCc>gTc	p.A529V	MAU2_ENST00000262815.8_Missense_Mutation_p.A529V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	529					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	p.A529V(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						ATGCAGCTCGCCAGCAAGATC	0.627000													9	74					0	0	0.387290	0	0
TOP1	7150	broad.mit.edu	37	20	39744053	39744053	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:39744053G>T	ENST00000361337.2	+	16	1931	c.1681G>T	c.(1681-1683)Gag>Tag	p.E561*	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	561					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)	CAAGCAGCCCGAGGATGATCT	0.383000			T	NUP98	AML*								19	121					8.04996e-18	8.80679e-18	0.608945	1	0
EFHB	151651	broad.mit.edu	37	3	19961420	19961420	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:19961420G>A	ENST00000295824.9	-	3	1062	c.901C>T	c.(901-903)Cct>Tct	p.P301S	EFHB_ENST00000344838.4_Missense_Mutation_p.P171S|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	301					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACTCCAGCAGGTGGATATCTG	0.343000													31	159					0	0	0.750413	0	0
DONSON	29980	broad.mit.edu	37	21	34956969	34956969	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr21:34956969C>T	ENST00000453626.1	-	4	716	c.712G>A	c.(712-714)Gat>Aat	p.D238N	DONSON_ENST00000303071.5_Missense_Mutation_p.D238N|DONSON_ENST00000432378.1_Missense_Mutation_p.D238N|DONSON_ENST00000303113.6_Missense_Mutation_p.D224N			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	238					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						ATTTTTCTATCAGCTCCAATA	0.448000													4	112					0	0	0.150653	0	0
HDLBP	3069	broad.mit.edu	37	2	242196114	242196114	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:242196114G>A	ENST00000391975.1	-	6	785	c.558C>T	c.(556-558)atC>atT	p.I186I	HDLBP_ENST00000391976.2_Silent_p.I186I|HDLBP_ENST00000310931.4_Silent_p.I186I|HDLBP_ENST00000427183.2_Silent_p.I222I	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	186	KH 1.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.I186I(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTGGGCGTGGGATCTGGATTT	0.483000													6	135					0	0	0.217242	0	0
AAGAB	79719	broad.mit.edu	37	15	67528335	67528335	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr15:67528335C>T	ENST00000261880.5	-	4	537	c.433G>A	c.(433-435)Gag>Aag	p.E145K	AAGAB_ENST00000561452.1_Missense_Mutation_p.E36K|AAGAB_ENST00000542650.1_Missense_Mutation_p.E36K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	145					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TCAGGCAACTCCTCTGGACTA	0.353000													40	236					0	0	0.864702	0	0
MME	4311	broad.mit.edu	37	3	154886339	154886339	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:154886339T>G	ENST00000460393.1	+	19	1959	c.1839T>G	c.(1837-1839)agT>agG	p.S613R	MME_ENST00000492661.1_Missense_Mutation_p.S613R|MME_ENST00000493237.1_Missense_Mutation_p.S613R|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.S613R|MME_ENST00000360490.2_Missense_Mutation_p.S613R	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	613					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AGTCTGCAAGTAACTTTAAGG	0.408000													50	156					0	0	0.870114	0	0
VCL	7414	broad.mit.edu	37	10	75874638	75874638	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:75874638G>C	ENST00000211998.4	+	21	3333	c.3239G>C	c.(3238-3240)aGt>aCt	p.S1080T	VCL_ENST00000372755.3_Missense_Mutation_p.S1012T|VCL_ENST00000417648.2_Missense_Mutation_p.S273T	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1080	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ACCAACATCAGTGATGAGGAG	0.483000													2	7					0	0	0.115264	0	0
ZNF831	128611	broad.mit.edu	37	20	57769147	57769147	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:57769147G>A	ENST00000371030.2	+	1	3073	c.3073G>A	c.(3073-3075)Gac>Aac	p.D1025N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1025						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTTGGGGGGGGACAAGGGGGA	0.682000													6	71					0	0	0.217242	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080450	57080450	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:57080450G>A	ENST00000532437.1	-	4	2023	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P571L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	571	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGTAGGCAGGGGCTCAAGGGG	0.597000													21	74					0	0	0.575678	0	0
MC2R	4158	broad.mit.edu	37	18	13885287	13885287	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr18:13885287C>T	ENST00000327606.3	-	2	411	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	77					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TTTCCAAGATCTTATATAGGC	0.448000													6	108					0	0	0.217242	0	0
ANO3	63982	broad.mit.edu	37	11	26552873	26552873	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:26552873C>T	ENST00000256737.3	+	8	1711	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	ANO3_ENST00000531568.1_Missense_Mutation_p.R141W|ANO3_ENST00000525139.1_Missense_Mutation_p.R271W|ANO3_ENST00000537978.1_Missense_Mutation_p.R271W	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	287						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						CAGCCGTGCACGGATTCACCA	0.453000													4	180					0	0	0.150653	0	0
ZNF155	7711	broad.mit.edu	37	19	44500287	44500287	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:44500287G>A	ENST00000270014.2	+	5	406	c.278G>A	c.(277-279)gGa>gAa	p.G93E	ZNF155_ENST00000590615.1_Missense_Mutation_p.G93E|ZNF155_ENST00000407951.2_Missense_Mutation_p.G104E	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	93						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CCAGAAGCAGGAGCACATGAA	0.418000													22	120					0	0	0.624587	0	0
POLQ	10721	broad.mit.edu	37	3	121258366	121258366	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:121258366G>C	ENST00000264233.5	-	4	673	c.545C>G	c.(544-546)tCt>tGt	p.S182C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	182	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATCCAATGAAGAGAAATGCCT	0.398000								DNA polymerases (catalytic subunits)					6	237					0	0	0.217242	0	0
ZNF165	7718	broad.mit.edu	37	6	28056699	28056699	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:28056699G>C	ENST00000377325.1	+	4	1465	c.909G>C	c.(907-909)tgG>tgC	p.W303C		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	303					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W303C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTTCAAATGGAACTCAGATT	0.363000													22	44					0	0	0.592651	0	0
PREX1	57580	broad.mit.edu	37	20	47309258	47309258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:47309258G>A	ENST00000396220.1	-	8	1010	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PREX1_ENST00000371941.3_Nonsense_Mutation_p.R330*			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	330	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTGTTGATTCGACCCCTGAAG	0.577000													19	175					0	0	0.557998	0	0
NPR3	4883	broad.mit.edu	37	5	32783030	32783030	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:32783030G>A	ENST00000265074.8	+	6	1665	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	NPR3_ENST00000415685.2_Missense_Mutation_p.R225H|NPR3_ENST00000415167.2_Missense_Mutation_p.R441H|NPR3_ENST00000434067.2_Missense_Mutation_p.R225H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	441					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.R441H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AAAGAAGGTCGTTTTGAAATG	0.398000													9	25					0	0	0.335167	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887625	12887625	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:12887625C>T	ENST00000535591.1	-	3	427	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	78										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCCATAGCTTCAGACCAAACC	0.473000													18	365					0	0	0.539581	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	301					0	0	0.217242	0	0
TECTA	7007	broad.mit.edu	37	11	120996298	120996298	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr11:120996298G>C	ENST00000392793.1	+	8	1762	c.1491G>C	c.(1489-1491)tgG>tgC	p.W497C	TECTA_ENST00000264037.2_Missense_Mutation_p.W497C			O75443	TECTA_HUMAN	tectorin alpha	497	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGCAGACTGGAAGTGCGACT	0.587000													30	96					0	0	0.706142	0	0
CLCN1	1180	broad.mit.edu	37	7	143020477	143020477	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:143020477G>C	ENST00000343257.2	+	6	859	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	258					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGGGGTATATGAGGTAAGGTT	0.607000													5	86					0	0	0.184627	0	0
DACH2	117154	broad.mit.edu	37	X	86068141	86068141	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:86068141G>A	ENST00000373131.1	+	8	1522	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L	DACH2_ENST00000510272.1_Silent_p.L247L|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000508860.1_Silent_p.L299L|DACH2_ENST00000373125.4_Silent_p.L466L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	466	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGGGTCTGCTGAAAGTTGCTT	0.368000													4	22					0	0	0.150653	0	0
MUC16	94025	broad.mit.edu	37	19	9067136	9067136	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:9067136C>T	ENST00000397910.4	-	3	20513	c.20310G>A	c.(20308-20310)caG>caA	p.Q6770Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6772	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q6770Q(1)|p.Q2403Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAATTCCTGAGTCGCCA	0.488000													125	201					0	0	0.870114	0	0
VTA1	51534	broad.mit.edu	37	6	142525178	142525178	+	Missense_Mutation	SNP	G	G	A	rs143729861		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:142525178G>A	ENST00000367630.4	+	7	812	c.754G>A	c.(754-756)Gca>Aca	p.A252T	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Missense_Mutation_p.A194T	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	252	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CATTGATCCCGCACTTTTCAA	0.388000													4	103					0	0	0.184627	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530589	80530589	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:80530589G>A	ENST00000295057.3	-	2	1012	c.356C>T	c.(355-357)aCg>aTg	p.T119M	CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.T119M|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	119						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGAACTCAGCGTGAGTTCCTT	0.582000										HNSCC(69;0.2)			58	179					0	0	0.870114	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28520338	28520338	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:28520338A>G	ENST00000383768.2	+	5	714	c.526A>G	c.(526-528)Aaa>Gaa	p.K176E	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.K176E			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	176							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GAAGTGGTATAAAAGTGCACT	0.274000													10	81					0	0	0.335167	0	0
DHX33	56919	broad.mit.edu	37	17	5364405	5364405	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr17:5364405C>A	ENST00000225296.3	-	4	903	c.703G>T	c.(703-705)Gat>Tat	p.D235Y	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	235	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTCCACATCCATCGTAGCT	0.517000													36	185					1.90571e-15	2.07601e-15	0.796494	1	0
TENM1	10178	broad.mit.edu	37	X	123517613	123517613	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chrX:123517613C>T	ENST00000422452.2	-	30	7231	c.7168G>A	c.(7168-7170)Ggc>Agc	p.G2390S	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G2383S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.G2385S(1)									GTCCATCTGCCAGCAACAACA	0.413000													63	131					0	0	0.870114	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125231447	125231447	+	RNA	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:125231447G>C	ENST00000439075.1	-	0	3298					NR_026876.1																						GTTAGGACTTGAAAATCTGCA	0.313000													6	53					0	0	0.248553	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579531	140579531	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:140579531C>T	ENST00000354757.3	+	1	184	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		62	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGTCCTCACGGGGGGCTCG	0.507000													7	185					0	0	0.248553	0	0
DST	667	broad.mit.edu	37	6	56473649	56473649	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:56473649G>C	ENST00000370754.5	-	39	5677	c.5678C>G	c.(5677-5679)tCt>tGt	p.S1893C	DST_ENST00000361203.3_Missense_Mutation_p.S1715C|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.S1715C|DST_ENST00000370769.4_Missense_Mutation_p.S1715C|DST_ENST00000446842.2_Missense_Mutation_p.S1389C			Q03001	DYST_HUMAN	dystonin	1715					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.S1715C(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACCTTCTCAGAGGTGCAGGG	0.398000													7	53					0	0	0.248553	0	0
CHST6	4166	broad.mit.edu	37	16	75512869	75512869	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:75512869C>T	ENST00000332272.4	-	3	1037	c.858G>A	c.(856-858)gcG>gcA	p.A286A	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.A286A	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	286					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGCGTAGAGCGCACGGATTT	0.672000													8	64					0	0	0.361761	0	0
PLSCR2	57047	broad.mit.edu	37	3	146171886	146171886	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:146171886A>G	ENST00000497985.1	-	7	1044	c.605T>C	c.(604-606)cTa>cCa	p.L202P	PLSCR2_ENST00000336685.2_Missense_Mutation_p.L129P	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	129					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AAACTTTGTTAGACATGGGTG	0.373000													12	147					0	0	0.387290	0	0
BCAP29	55973	broad.mit.edu	37	7	107236385	107236385	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:107236385C>G	ENST00000379119.2	+	4	432	c.418C>G	c.(418-420)Caa>Gaa	p.Q140E	BCAP29_ENST00000379117.2_Missense_Mutation_p.Q140E|BCAP29_ENST00000379121.2_Missense_Mutation_p.Q46E|BCAP29_ENST00000005259.4_Missense_Mutation_p.Q140E|BCAP29_ENST00000445771.2_Missense_Mutation_p.Q140E|BCAP29_ENST00000465919.1_Missense_Mutation_p.Q46E|BCAP29_ENST00000494086.1_3'UTR	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	140					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						ACTTAAAACTCAAGCAGAAAA	0.299000													16	108					0	0	0.500413	0	0
RMND1	55005	broad.mit.edu	37	6	151766520	151766520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:151766520G>A	ENST00000367303.4	-	2	549	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	143								p.Q143*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTCTTCACCTGTGGGAAGTCT	0.438000													54	114					0	0	0.870114	0	0
GPR133	283383	broad.mit.edu	37	12	131593382	131593382	+	Silent	SNP	G	G	A	rs60880996	byFrequency	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr12:131593382G>A	ENST00000261654.5	+	18	2560	c.2001G>A	c.(1999-2001)tcG>tcA	p.S667S	GPR133_ENST00000376682.4_Silent_p.S353S|GPR133_ENST00000543617.1_Silent_p.S186S|GPR133_ENST00000535015.1_Silent_p.S699S	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	667					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S667S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTGGGTCGGAGGACAGCA	0.607000													73	141					0	0	0.870114	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839826	27839826	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:27839826C>A	ENST00000328488.2	-	1	273	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	90					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGCGCCATCACCGCCGAGCTC	0.567000													9	189					1.12685e-05	1.17744e-05	0.307466	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94881081	94881081	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:94881081G>C	ENST00000289495.5	+	9	2554	c.2338G>C	c.(2338-2340)Gat>Cat	p.D780H	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D780H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D802H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D780H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D780H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D780H	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	780	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGAGAGCTTGATTTCATCAA	0.343000										HNSCC(28;0.073)			7	58					0	0	0.248553	0	0
ZNF550	162972	broad.mit.edu	37	19	58059066	58059066	+	Silent	SNP	G	G	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:58059066G>T	ENST00000325134.5	-	3	606	c.450C>A	c.(448-450)ctC>ctA	p.L150L	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Silent_p.L141L|ZNF550_ENST00000457177.1_Silent_p.L182L|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATTCATGGAGAACATCTG	0.483000													15	363					6.72482e-11	7.20316e-11	0.479597	1	0
SGMS1	259230	broad.mit.edu	37	10	52071137	52071137	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr10:52071137C>T	ENST00000361781.2	-	9	1739	c.780G>A	c.(778-780)atG>atA	p.M260I	SGMS1_ENST00000429490.1_Missense_Mutation_p.M91I	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	266					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CAATGAGCTTCATTATTCTTC	0.463000													10	73					0	0	0.387290	0	0
FCRLA	84824	broad.mit.edu	37	1	161677126	161677126	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:161677126G>A	ENST00000540926.1	+	1	365	c.72G>A	c.(70-72)atG>atA	p.M24I	FCRLA_ENST00000367953.3_Missense_Mutation_p.M24I|FCRLA_ENST00000309691.6_Missense_Mutation_p.M24I|FCRLA_ENST00000294796.4_Missense_Mutation_p.M24I|FCRLA_ENST00000546024.1_Missense_Mutation_p.M41I|FCRLA_ENST00000236938.6_Missense_Mutation_p.M41I|FCRLA_ENST00000540521.1_Missense_Mutation_p.M41I|FCRLA_ENST00000367949.2_Missense_Mutation_p.M41I|FCRLA_ENST00000367950.1_Start_Codon_SNP_p.M1I|FCRLA_ENST00000367957.2_Missense_Mutation_p.M41I|FCRLA_ENST00000367959.2_Missense_Mutation_p.M41I|FCRLA_ENST00000350710.3_Missense_Mutation_p.M41I|FCRLA_ENST00000349527.4_Missense_Mutation_p.M24I			Q7L513	FCRLA_HUMAN	Fc receptor-like A	24					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGGCCCAGATGCTACTGGGTA	0.502000													4	120					0	0	0.150653	0	0
SPEF2	79925	broad.mit.edu	37	5	35705876	35705876	+	Silent	SNP	T	T	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:35705876T>C	ENST00000440995.2	+	18	2616	c.2616T>C	c.(2614-2616)atT>atC	p.I872I	SPEF2_ENST00000509059.1_Silent_p.I872I|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.I877I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	877					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAAAGAAATTCTTACGACTG	0.279000													3	73					0	0	0.115264	0	0
RYR2	6262	broad.mit.edu	37	1	237868594	237868594	+	Silent	SNP	A	A	G			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:237868594A>G	ENST00000366574.2	+	67	9848	c.9531A>G	c.(9529-9531)aaA>aaG	p.K3177K	RYR2_ENST00000542537.1_Silent_p.K3161K|RYR2_ENST00000360064.6_Silent_p.K3175K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3177					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	p.K3175K(1)		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)			ATCTGGACAAACATAATATTT	0.388000													16	17					0	0	0.479597	0	0
OR4E2	26686	broad.mit.edu	37	14	22133750	22133750	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:22133750G>A	ENST00000408935.1	+	1	454	c.454G>A	c.(454-456)Ggt>Agt	p.G152S		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTGGTTGGGGGGTACTGTTCA	0.478000													35	219					0	0	0.769981	0	0
ENPP2	5168	broad.mit.edu	37	8	120602836	120602836	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:120602836G>C	ENST00000427067.2	-	13	1284	c.1104C>G	c.(1102-1104)ttC>ttG	p.F368L	ENPP2_ENST00000259486.6_Missense_Mutation_p.F424L|ENPP2_ENST00000522167.1_Missense_Mutation_p.F11L|ENPP2_ENST00000522826.1_Missense_Mutation_p.F372L|ENPP2_ENST00000075322.6_Missense_Mutation_p.F372L			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	372					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTACTCAAGAACTCAGTTC	0.353000													3	86					0	0	0.150653	0	0
SP4	6671	broad.mit.edu	37	7	21550789	21550789	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr7:21550789G>A	ENST00000222584.3	+	6	2475	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	753					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTGTTACAGAGGTGCTTGG	0.448000													22	98					0	0	0.624587	0	0
MYO18B	84700	broad.mit.edu	37	22	26286822	26286822	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:26286822C>T	ENST00000335473.7	+	26	4664	c.4414C>T	c.(4414-4416)Cgg>Tgg	p.R1472W	MYO18B_ENST00000536101.1_Missense_Mutation_p.R1472W|CTA-125H2.2_ENST00000453457.2_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.R1473W|CTA-125H2.2_ENST00000600211.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1472	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACAGGCCTTCCGGGAGGTCCA	0.612000													10	40					0	0	0.361761	0	0
SAMM50	25813	broad.mit.edu	37	22	44360402	44360402	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr22:44360402G>C	ENST00000350028.4	+	3	360	c.203G>C	c.(202-204)gGa>gCa	p.G68A	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	68					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGTGAAATTGGAGATGTTTTC	0.408000													21	151					0	0	0.608945	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42163513	42163513	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr20:42163513G>A	ENST00000444063.1	+	13	1618	c.1486G>A	c.(1486-1488)Gct>Act	p.A496T	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.A564T|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.A496T|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.A564T|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.A496T			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	496					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A496T(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTGGATCGACGCTGACCACCC	0.577000													5	44					0	0	0.217242	0	0
IPPK	64768	broad.mit.edu	37	9	95405069	95405069	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:95405069C>T	ENST00000287996.3	-	7	804	c.528G>A	c.(526-528)caG>caA	p.Q176Q		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	176					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ATTTGCTGATCTGCTTCCACT	0.547000													8	68					0	0	0.307466	0	0
CDH19	28513	broad.mit.edu	37	18	64239324	64239324	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr18:64239324T>A	ENST00000262150.2	-	2	410	c.118A>T	c.(118-120)Aga>Tga	p.R40*	CDH19_ENST00000540086.1_Nonsense_Mutation_p.R40*	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	40					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CGCTTCACTCTCAAATGAGAT	0.423000													20	113					0	0	0.608945	0	0
MAP3K7	6885	broad.mit.edu	37	6	91257806	91257806	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:91257806C>T	ENST00000369329.3	-	10	1201	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	MAP3K7_ENST00000369327.3_Missense_Mutation_p.R347H|MAP3K7_ENST00000369320.1_Missense_Mutation_p.R28H|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R347H|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R347H	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	347					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGATTCTAAGCGCTTAATAGT	0.343000													5	84					0	0	0.217242	0	0
MAATS1	89876	broad.mit.edu	37	3	119434506	119434506	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr3:119434506G>A	ENST00000273390.5	+	6	675	c.598G>A	c.(598-600)Gtt>Att	p.V200I	MAATS1_ENST00000463700.1_Missense_Mutation_p.V200I	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GGATGCTGACGTTCAAACAGA	0.463000													40	335					0	0	0.827153	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408478	2408478	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:2408478G>A	ENST00000332578.3	+	7	865	c.865G>A	c.(865-867)Gcc>Acc	p.A289T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	289	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGACACGGCCGACTTTGA	0.677000													4	162					0	0	0.184627	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497551	1497551	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr8:1497551C>T	ENST00000421627.2	+	2	826	c.692C>T	c.(691-693)aCg>aTg	p.T231M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	310					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCTATCGGACGCCCAGCGTG	0.687000													13	97					0	0	0.575678	0	0
ANXA6	309	broad.mit.edu	37	5	150514043	150514043	+	Splice_Site	SNP	C	C	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr5:150514043C>A	ENST00000354546.5	-	8	718	c.489_splice	c.e8-1	p.G164_splice	ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000523714.1_Splice_Site_p.G132_splice|ANXA6_ENST00000356496.5_Splice_Site_p.G164_splice|ANXA6_ENST00000377751.5_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	164						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCCTGGTTCCCTGGGCAGA	0.542000													5	213					0.00116845	0.00119649	0.217242	1	0
KIF13A	63971	broad.mit.edu	37	6	17764821	17764821	+	Silent	SNP	C	C	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:17764821C>T	ENST00000378814.5	-	37	4793	c.4794G>A	c.(4792-4794)ccG>ccA	p.P1598P	KIF13A_ENST00000378816.5_Silent_p.P1611P|KIF13A_ENST00000378826.2_Silent_p.P1611P|KIF13A_ENST00000259711.6_Silent_p.P1646P|KIF13A_ENST00000378843.2_Silent_p.P1598P	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1646					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)			TGTTTGAGGACGGCCTGAAAT	0.507000													10	72					0	0	0.335167	0	0
SNX30	401548	broad.mit.edu	37	9	115626607	115626607	+	Silent	SNP	G	G	A			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr9:115626607G>A	ENST00000374232.3	+	8	1346	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	SNX30_ENST00000604751.1_3'UTR	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	394					cell communication|protein transport	cytoplasm	phosphatidylinositol binding	p.Q394Q(1)		large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGAGGTGGCAGAACAACAAGA	0.512000													16	77					0	0	0.557998	0	0
COL11A1	1301	broad.mit.edu	37	1	103461566	103461567	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr1:103461566_103461567insT	ENST00000358392.2	-	27	2626_2627	c.2309_2310insA	c.(2308-2310)tccfs	p.S770fs	COL11A1_ENST00000353414.4_Frame_Shift_Ins_p.S719fs|COL11A1_ENST00000370096.3_Frame_Shift_Ins_p.S758fs|COL11A1_ENST00000512756.1_Frame_Shift_Ins_p.S642fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	758	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGGGCCCGGGTATCCAATAGG	0.351													8	222	---	---	---	---					
LINC00607	646324	broad.mit.edu	37	2	216590957	216590960	+	RNA	DEL	GGAA	GGAA	-			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr2:216590957_216590960delGGAA	ENST00000445174.1	-	0	723					NR_037195.1																						gagggaggagggaaggaaggaagg	0.510													4	5	---	---	---	---					
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT	rs17204758		TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.540										Multiple Myeloma(14;0.17)			5	11	---	---	---	---					
IGHG4	3503	broad.mit.edu	37	14	106090934	106090935	+	RNA	INS	-	-	TG			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr14:106090934_106090935insTG	ENST00000390543.2	-	0	861_862																											GGTGAGCCTGCTGTAGAGGAAG	0.594													9	871	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29294232	29294233	+	RNA	INS	-	-	CTTCCTTT	rs28856588	by1000genomes	TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr16:29294232_29294233insCTTCCTTT	ENST00000398878.3	+	0	214																											ttccttccttcctttctttctt	0.411													4	9	---	---	---	---					
ZNF784	147808	broad.mit.edu	37	19	56133788	56133789	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5374-01A-01D-1434-08	TCGA-CN-5374-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d5a97b-3f3d-4595-9034-8491999fcf40	fc1114cb-d2aa-40d5-b507-ff3d97d7eab3	g.chr19:56133788_56133789insC	ENST00000325351.4	-	2	339_340	c.300_301insG	c.(298-303)ccgccgfs	p.P101fs	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S101fs*140(1)		upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGGCACCGGCTCGGGTCCCCAC	0.728													4	8	---	---	---	---