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
GNB1	2782	broad.mit.edu	37	1	1720625	1720625	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:1720625G>A	ENST00000378609.4	-	10	1114	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	261					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		AGTAAGTCATGAGCTCCTGGT	0.537000											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	35					0	0	0.002445	0	0
OR8K3	219473	broad.mit.edu	37	11	56085785	56085785	+	Translation_Start_Site	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:56085785G>T	ENST00000312711.1	+	1	3	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GAACCTGGATGGAACAACACA	0.393000													15	36					2.32078e-09	3.59508e-09	0.003163	1	0
DROSHA	29102	broad.mit.edu	37	5	31464414	31464414	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:31464414T>A	ENST00000511367.2	-	19	2747	c.2503A>T	c.(2503-2505)Aga>Tga	p.R835*	DROSHA_ENST00000513349.1_Nonsense_Mutation_p.R798*|DROSHA_ENST00000442743.1_Nonsense_Mutation_p.R798*|DROSHA_ENST00000344624.3_Nonsense_Mutation_p.R835*	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	835	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ACTTCTCGTCTCATTGTATTC	0.423000													25	31					0	0	0.007291	0	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775480	27775480	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:27775480C>T	ENST00000377401.2	-	1	229	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	69					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TCGAAGATGTCGTTGACGAAG	0.597000													27	229					0	0	0.003954	0	0
OR2T11	127077	broad.mit.edu	37	1	248789953	248789953	+	Silent	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:248789953G>T	ENST00000330803.2	-	1	538	c.477C>A	c.(475-477)atC>atA	p.I159I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I159I(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATTCATGGTGATGGGAGTGA	0.522000													83	65					2.46668e-60	4.44883e-60	0.003610	1	0
DROSHA	29102	broad.mit.edu	37	5	31464415	31464415	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:31464415C>T	ENST00000511367.2	-	19	2746	c.2502G>A	c.(2500-2502)atG>atA	p.M834I	DROSHA_ENST00000513349.1_Missense_Mutation_p.M797I|DROSHA_ENST00000442743.1_Missense_Mutation_p.M797I|DROSHA_ENST00000344624.3_Missense_Mutation_p.M834I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	834	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTTCTCGTCTCATTGTATTCT	0.418000													25	30					0	0	0.007291	0	0
SCN2B	6327	broad.mit.edu	37	11	118038984	118038984	+	Silent	SNP	A	A	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:118038984A>G	ENST00000278947.5	-	3	505	c.264T>C	c.(262-264)atT>atC	p.I88I		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	88	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GCTTCAGGTTAATGATCTTCA	0.562000													11	35					0	0	0.008291	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606679	84606679	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:84606679G>T	ENST00000344803.2	+	4	1341	c.1294G>T	c.(1294-1296)Gga>Tga	p.G432*		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GAAAGAAAATGGAAAGAAACC	0.413000													20	23					1.96292e-10	3.05008e-10	0.001523	1	0
PTGIS	5740	broad.mit.edu	37	20	48124472	48124472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr20:48124472G>T	ENST00000244043.4	-	10	1517	c.1488C>A	c.(1486-1488)taC>taA	p.Y496*	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	496					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGCGGATGCGGTAGCGGACGG	0.622000													26	22					1.32181e-22	2.23998e-22	0.007291	1	0
TAF1L	138474	broad.mit.edu	37	9	32633430	32633430	+	Silent	SNP	T	T	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:32633430T>A	ENST00000242310.4	-	1	2237	c.2148A>T	c.(2146-2148)gcA>gcT	p.A716A		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	716					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTATCTTGGTTGCCATGCCAA	0.418000													42	75					0	0	0.008740	0	0
SALL1	6299	broad.mit.edu	37	16	51174808	51174808	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr16:51174808G>A	ENST00000440970.1	-	2	1465	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S442F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	442					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCCTCATCGGAAGTACTTTT	0.498000													6	95					0	0	0.001168	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011946	46011946	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr21:46011946G>A	ENST00000400368.1	-	1	440	c.420C>T	c.(418-420)agC>agT	p.S140S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	140	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CTGACTGGCAGCTAGACTGCT	0.622000													76	18					0	0	0.003610	0	0
SPEF2	79925	broad.mit.edu	37	5	35628627	35628627	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:35628627G>A	ENST00000440995.2	+	2	124	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	SPEF2_ENST00000356031.3_Missense_Mutation_p.E42K|SPEF2_ENST00000509059.1_Missense_Mutation_p.E42K|SPEF2_ENST00000282469.6_Missense_Mutation_p.E42K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	42	CH.				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)			ACACAAGTTTGAACTTCAGGA	0.348000													5	84					0	0	0.001168	0	0
OPRK1	4986	broad.mit.edu	37	8	54163445	54163445	+	Silent	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:54163445G>C	ENST00000265572.3	-	2	450	c.153C>G	c.(151-153)ccC>ccG	p.P51P	OPRK1_ENST00000520287.1_Silent_p.P51P	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	51					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGATGTGCGCGGGCTCCAGCT	0.687000													14	11					0	0	0.004990	0	0
SLC12A7	10723	broad.mit.edu	37	5	1083927	1083927	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:1083927C>A	ENST00000264930.5	-	8	1105	c.1062G>T	c.(1060-1062)gaG>gaT	p.E354D		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	354					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGATGAAGTACTCGTCACAGG	0.647000													39	108					2.00842e-17	3.29302e-17	0.002522	1	0
MDN1	23195	broad.mit.edu	37	6	90400442	90400442	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:90400442C>T	ENST00000369393.3	-	64	10814	c.10699G>A	c.(10699-10701)Gag>Aag	p.E3567K	MDN1_ENST00000428876.1_Missense_Mutation_p.E3567K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3567	Poly-Glu.				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTCCTCCTCTTCACTCAGG	0.517000													4	22					0	0	0.000602	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513900	95513900	+	RNA	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:95513900C>T	ENST00000432432.2	-	0	712					NR_040113.1																						GAGAGCTGACCTAAAATAACA	0.353000													28	529					0	0	0.006230	0	0
MYH4	4622	broad.mit.edu	37	17	10363311	10363311	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:10363311G>T	ENST00000255381.2	-	14	1484	c.1374C>A	c.(1372-1374)taC>taA	p.Y458*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	458	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCCCGATGAAGTACTGCCTGG	0.498000													46	77					1.07234e-20	1.79912e-20	0.003610	1	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652291	45652291	+	RNA	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:45652291G>A	ENST00000427229.2	+	0	1805																											TGACATGGCTGAAAGCTTGGT	0.468000													15	19					0	0	0.004007	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957238	33957238	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:33957238C>T	ENST00000361328.3	+	6	1533	c.1380C>T	c.(1378-1380)gtC>gtT	p.V460V	ZSCAN20_ENST00000373413.2_Silent_p.V406V	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	460					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)				CTGGCCTGGTCAATGTTGAGT	0.547000													33	150					0	0	0.002836	0	0
CECR7	100130418	broad.mit.edu	37	22	17528285	17528285	+	RNA	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr22:17528285G>T	ENST00000441006.1	+	0	975					NR_015352.1																						CTAAGGAGCTGCAGCAGCATG	0.547000													14	6					9.16793e-09	1.39452e-08	0.004990	1	0
SNX19	399979	broad.mit.edu	37	11	130784592	130784592	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:130784592C>T	ENST00000265909.4	-	1	1812	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000533214.1_Missense_Mutation_p.D415N|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_5'UTR	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	415					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCCTCACCATCTTTGGGTTCC	0.552000													17	17					0	0	0.001882	0	0
NAIF1	203245	broad.mit.edu	37	9	130825923	130825923	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:130825923C>T	ENST00000373078.4	-	2	987	c.768G>A	c.(766-768)atG>atA	p.M256I	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	256					apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGCGGCGGATCATCTGCAGTA	0.632000													12	72					0	0	0.000978	0	0
TLR7	51284	broad.mit.edu	37	X	12905433	12905433	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrX:12905433G>A	ENST00000380659.3	+	3	1945	c.1806G>A	c.(1804-1806)atG>atA	p.M602I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	602					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGAAACTGATGATGAACGACA	0.383000													10	64					0	0	0.008291	0	0
GPAA1	8733	broad.mit.edu	37	8	145138897	145138897	+	Silent	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:145138897G>C	ENST00000355091.4	+	5	691	c.570G>C	c.(568-570)ctG>ctC	p.L190L	GPAA1_ENST00000361036.6_Silent_p.L130L|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	190					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGACCTTCTGGGCACTGAGG	0.552000													60	45					0	0	0.003610	0	0
PDZD7	79955	broad.mit.edu	37	10	102789858	102789858	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:102789858G>T	ENST00000370215.3	-	2	344	c.119C>A	c.(118-120)aCg>aAg	p.T40K	PDZD7_ENST00000470414.1_Missense_Mutation_p.T40K	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	40						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CAGGTATCGCGTTGCGGTGGA	0.657000													18	88					1.56452e-12	2.47675e-12	0.007413	1	0
C3orf67	200844	broad.mit.edu	37	3	58855927	58855927	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:58855927C>T	ENST00000472469.1	-	7	1047	c.209G>A	c.(208-210)aGa>aAa	p.R70K	C3orf67_ENST00000482387.1_Missense_Mutation_p.R150K|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.R150K			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	150										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GTTATTCCTTCTGCCAGAGAG	0.438000													5	47					0	0	0.000602	0	0
ATN1	1822	broad.mit.edu	37	12	7043174	7043174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:7043174C>T	ENST00000356654.4	+	2	247	c.10C>T	c.(10-12)Cga>Tga	p.R4*	ATN1_ENST00000396684.2_Nonsense_Mutation_p.R4*	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	4					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AATGAAGACACGACAGAATAA	0.498000													9	10					0	0	0.006214	0	0
DNAH5	1767	broad.mit.edu	37	5	13870955	13870955	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:13870955T>C	ENST00000265104.4	-	24	3859	c.3755A>G	c.(3754-3756)gAt>gGt	p.D1252G	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1252	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATCCGAATATCATCTAGGTC	0.368000									Kartagener syndrome				26	45					0	0	0.006320	0	0
AJUBA	84962	broad.mit.edu	37	14	23450742	23450742	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:23450742C>A	ENST00000262713.2	-	1	1109	c.734G>T	c.(733-735)gGa>gTa	p.G245V	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.G245V	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	245	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CGCTCCCACTCCGGCCCCGGC	0.736000													3	3					8.12818e-05	0.000117614	0.001984	1	0
RUSC2	9853	broad.mit.edu	37	9	35548239	35548239	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:35548239C>T	ENST00000455600.1	+	2	2290	c.1721C>T	c.(1720-1722)tCa>tTa	p.S574L		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	574						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGAGTTCTCACCCATCCAA	0.627000													10	25					0	0	0.006214	0	0
MTBP	27085	broad.mit.edu	37	8	121531029	121531029	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:121531029T>A	ENST00000305949.1	+	20	2627	c.2582T>A	c.(2581-2583)cTc>cAc	p.L861H		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	861	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGCCAGCGTCTCTTTGAAATC	0.353000													24	18					0	0	0.003954	0	0
OR2T4	127074	broad.mit.edu	37	1	248525221	248525221	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:248525221G>T	ENST00000366475.1	+	1	339	c.339G>T	c.(337-339)atG>atT	p.M113I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCCCAAGATGCTCCTGGACC	0.488000													120	133					3.58676e-45	6.37787e-45	0.003610	1	0
SRL	6345	broad.mit.edu	37	16	4254601	4254601	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr16:4254601C>A	ENST00000399609.3	-	2	108	c.96G>T	c.(94-96)ttG>ttT	p.L32F	SRL_ENST00000537996.1_5'UTR	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	491	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGCGGTCCCTCAATGGGGCTT	0.572000													15	72					0.000219431	0.000314809	0.002450	1	0
ZNF25	219749	broad.mit.edu	37	10	38246370	38246370	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:38246370G>T	ENST00000302609.7	-	3	332	c.120C>A	c.(118-120)aaC>aaA	p.N40K	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GGTGACTATAGTTTTCCAGCA	0.428000													64	47					4.73848e-44	8.39625e-44	0.003610	1	0
LHX5	64211	broad.mit.edu	37	12	113907084	113907084	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:113907084G>A	ENST00000261731.3	-	2	813	c.240C>T	c.(238-240)gcC>gcT	p.A80A		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	80	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						CTTTGCTCCGGGCCTTGCGCA	0.592000													34	45					0	0	0.005524	0	0
SCFD2	152579	broad.mit.edu	37	4	54218830	54218830	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr4:54218830G>A	ENST00000401642.3	-	2	1075	c.942C>T	c.(940-942)ctC>ctT	p.L314L	SCFD2_ENST00000388940.4_Silent_p.L314L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	314					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGAGTGCAGTGAGCGCTATCA	0.423000													4	42					0	0	0.000248	0	0
CAPN5	726	broad.mit.edu	37	11	76829300	76829300	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:76829300G>C	ENST00000278559.3	+	8	1258	c.1069G>C	c.(1069-1071)Gcc>Ccc	p.A357P	CAPN5_ENST00000456580.2_Missense_Mutation_p.A397P|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A357P	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	357	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTGGGAGGAGGCCCGGCTGCA	0.612000													14	14					0	0	0.004007	0	0
CCSER1	401145	broad.mit.edu	37	4	91229569	91229569	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr4:91229569C>T	ENST00000509176.1	+	2	422	c.134C>T	c.(133-135)tCt>tTt	p.S45F	CCSER1_ENST00000333691.8_Missense_Mutation_p.S45F|CCSER1_ENST00000432775.2_Missense_Mutation_p.S45F	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CACAGTTCCTCTCCTTCCAGC	0.463000													5	52					0	0	0.000602	0	0
SLC26A10	65012	broad.mit.edu	37	12	58018721	58018721	+	Missense_Mutation	SNP	C	C	T	rs146389619	by1000genomes	TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:58018721C>T	ENST00000320442.4	+	10	1611	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	434	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TGGGCAGTTTCGCTGCAACCT	0.572000													10	71					0	0	0.001855	0	0
NLRP12	91662	broad.mit.edu	37	19	54314303	54314303	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:54314303C>T	ENST00000324134.6	-	3	778	c.610G>A	c.(610-612)Gag>Aag	p.E204K	NLRP12_ENST00000391773.1_Missense_Mutation_p.E204K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E204K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E204K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E204K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E204K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E204K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E204K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	204					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGGCGCTCCTCGTCTGGCTCA	0.657000													5	76					0	0	0.001168	0	0
DIO1	1733	broad.mit.edu	37	1	54360014	54360014	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:54360014T>C	ENST00000361921.3	+	1	155	c.131T>C	c.(130-132)aTg>aCg	p.M44T	DIO1_ENST00000322679.6_Missense_Mutation_p.M44T|DIO1_ENST00000525202.1_Missense_Mutation_p.M44T|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000532493.1_Missense_Mutation_p.M44T|DIO1_ENST00000388876.3_Missense_Mutation_p.M44T	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	44					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						ATCCTGGCCATGGGCGAGAAG	0.522000													46	134					0	0	0.003610	0	0
ZNF568	374900	broad.mit.edu	37	19	37441787	37441787	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:37441787A>G	ENST00000415168.1	+	5	1916	c.1540A>G	c.(1540-1542)Aga>Gga	p.R514G	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.R578G	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTTCATGTGAGAAGTCACAC	0.378000													8	73					0	0	0.003080	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626417	1626417	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:1626417G>T	ENST00000421627.2	+	9	2220	c.2086G>T	c.(2086-2088)Gcc>Tcc	p.A696S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	775					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)		CGTCACGGCCGCCGTCCAAGC	0.572000													26	36					1.5548e-18	2.58281e-18	0.005443	1	0
CAP2	10486	broad.mit.edu	37	6	17539531	17539531	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:17539531C>G	ENST00000229922.2	+	8	1200	c.668C>G	c.(667-669)tCt>tGt	p.S223C	CAP2_ENST00000465994.1_Missense_Mutation_p.S159C|CAP2_ENST00000489374.1_Missense_Mutation_p.S111C|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.S197C	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	223					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCAGCGTTTTCTGTCCTCTCC	0.552000													6	172					0	0	0.001168	0	0
ANKRD36	375248	broad.mit.edu	37	2	97866080	97866080	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:97866080G>C	ENST00000420699.2	+	45	3009	c.2765G>C	c.(2764-2766)cGg>cCg	p.R922P	ANKRD36_ENST00000461153.2_Missense_Mutation_p.R922P	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	922										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GTGTCTTCTCGGAAAAAACCA	0.338000													17	39					0	0	0.007413	0	0
CFH	3075	broad.mit.edu	37	1	196706742	196706742	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:196706742G>A	ENST00000367429.4	+	17	2974	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	912	Sushi 15.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAAGAAAATGAAACAACATG	0.363000													8	52					0	0	0.004482	0	0
OR8B12	219858	broad.mit.edu	37	11	124412753	124412753	+	Silent	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:124412753G>T	ENST00000306842.2	-	1	822	c.798C>A	c.(796-798)ccC>ccA	p.P266P		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CTTGCTCGAGGGGCAGGATGG	0.443000													11	38					7.03913e-09	1.0772e-08	0.001368	1	0
OSM	5008	broad.mit.edu	37	22	30660183	30660183	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr22:30660183T>A	ENST00000215781.2	-	3	488	c.448A>T	c.(448-450)Atc>Ttc	p.I150F	OSM_ENST00000403389.1_Missense_Mutation_p.I129F|OSM_ENST00000403463.1_3'UTR	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	150					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			ATGCAGTAGATGTTGTTCCTG	0.647000													16	1					0	0	0.004007	0	0
TSIX	9383	broad.mit.edu	37	X	73044457	73044457	+	RNA	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrX:73044457C>A	ENST00000604411.1	+	0	32418				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGAGACAATACCTAGCTTACA	0.303000													13	2					4.3838e-07	6.54976e-07	0.001855	1	0
SETBP1	26040	broad.mit.edu	37	18	42532066	42532066	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr18:42532066C>T	ENST00000282030.5	+	4	3057	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	921						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCGGCAAAAGCATCTCATTGT	0.532000									Schinzel-Giedion syndrome				15	22					0	0	0.002450	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964048	88964048	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:88964048C>T	ENST00000333190.4	+	4	2361	c.1752C>T	c.(1750-1752)ctC>ctT	p.L584L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	584						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTCTTTACCTCAACACATCTC	0.378000										HNSCC(36;0.09)			7	39					0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238285718	238285718	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:238285718C>T	ENST00000295550.4	-	7	3219	c.2767G>A	c.(2767-2769)Gca>Aca	p.A923T	COL6A3_ENST00000392003.2_Missense_Mutation_p.A516T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A717T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A316T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A722T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A717T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A723T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A717T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	923	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TACCTCTGTGCATAGTCCAGC	0.522000													14	43					0	0	0.004007	0	0
ECT2L	345930	broad.mit.edu	37	6	139206649	139206649	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:139206649G>A	ENST00000423192.1	+	16	2196	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	ECT2L_ENST00000367682.2_Missense_Mutation_p.E679K|ECT2L_ENST00000541398.1_Intron			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	679	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TTAGTGCAGAGAAATGATACC	0.438000			"""N, Splice, Mis"""		ETP ALL								5	24					0	0	0.001168	0	0
NXF3	56000	broad.mit.edu	37	X	102339309	102339309	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrX:102339309G>T	ENST00000395065.3	-	3	413	c.312C>A	c.(310-312)aaC>aaA	p.N104K	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.N15K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	104						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CATCCGGCATGTTCCCCTCCA	0.473000													52	4					4.25531e-23	7.25991e-23	0.003610	1	0
ADAMTS15	170689	broad.mit.edu	37	11	130343387	130343387	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:130343387C>T	ENST00000299164.2	+	8	2524	c.2524C>T	c.(2524-2526)Cgc>Tgc	p.R842C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	842	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCCCCCTGCACGCTGGGTGGC	0.721000													6	77					0	0	0.001168	0	0
BCOR	54880	broad.mit.edu	37	X	39933360	39933360	+	Silent	SNP	T	T	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrX:39933360T>A	ENST00000342274.4	-	4	1601	c.1239A>T	c.(1237-1239)acA>acT	p.T413T	BCOR_ENST00000378444.4_Silent_p.T413T|BCOR_ENST00000378455.4_Silent_p.T413T|BCOR_ENST00000397354.3_Silent_p.T413T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	413					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTGAACCGCTGTCTTCCGGG	0.582000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						19	2					0	0	0.008871	0	0
OBSCN	84033	broad.mit.edu	37	1	228431126	228431126	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:228431126G>T	ENST00000570156.2	+	11	3522	c.3448G>T	c.(3448-3450)Ggc>Tgc	p.G1150C	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.G1058C|OBSCN_ENST00000284548.11_Missense_Mutation_p.G1058C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	86	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAGGCCAGGGGCCAGAGGGT	0.557000													15	40					1.56452e-12	2.47675e-12	0.007413	1	0
TMEM259	91304	broad.mit.edu	37	19	1011931	1011931	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:1011931C>T	ENST00000356663.3	-	6	1023	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	TMEM259_ENST00000333175.5_Missense_Mutation_p.R301Q	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		GTAGGACGTCCGCGCCATCCA	0.701000													4	18					0	0	0.000248	0	0
ZNF225	7768	broad.mit.edu	37	19	44635321	44635321	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:44635321T>G	ENST00000262894.6	+	5	834	c.554T>G	c.(553-555)tTc>tGc	p.F185C	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.F185C	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GGAAAGAGTTTCTGTTATAGC	0.398000													30	39					0	0	0.006320	0	0
NKX2-8	26257	broad.mit.edu	37	14	37051560	37051560	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:37051560C>T	ENST00000258829.5	-	1	252	c.35G>A	c.(34-36)cGc>cAc	p.R12H		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	12					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TAGAAGGCTGCGCACGGTGAA	0.726000													9	25					0	0	0.006214	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862354	94862354	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:94862354A>G	ENST00000278505.4	+	2	1232	c.1114A>G	c.(1114-1116)Ata>Gta	p.I372V		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	372						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				GATTAATGGCATAGAAAGTTG	0.443000													20	58					0	0	0.002299	0	0
C6orf118	168090	broad.mit.edu	37	6	165723069	165723069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:165723069C>A	ENST00000230301.8	-	1	27	c.7G>T	c.(7-9)Gag>Tag	p.E3*		NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	3										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCCGCTCCTCCGCCATCGCT	0.567000													15	12					3.52763e-06	5.14871e-06	0.004990	1	0
ACTG1	71	broad.mit.edu	37	17	79479022	79479022	+	Missense_Mutation	SNP	G	G	C	rs11549209	by1000genomes	TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:79479022G>C	ENST00000575842.1	-	2	696	c.270C>G	c.(268-270)ttC>ttG	p.F90L	ACTG1_ENST00000331925.2_Missense_Mutation_p.F90L|ACTG1_ENST00000575087.1_Missense_Mutation_p.F90L|ACTG1_ENST00000573283.1_Missense_Mutation_p.F90L			P63261	ACTG_HUMAN	actin, gamma 1	90					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GCTCGTTGTAGAAGGTGTGGT	0.612000													20	73					0	0	0.001523	0	0
BRCA1	672	broad.mit.edu	37	17	41226380	41226380	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:41226380G>A	ENST00000309486.4	-	13	4782	c.3755C>T	c.(3754-3756)aCg>aTg	p.T1252M	BRCA1_ENST00000491747.2_Missense_Mutation_p.T444M|BRCA1_ENST00000471181.2_Missense_Mutation_p.T1569M|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.T39M|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.T406M|BRCA1_ENST00000493795.1_Missense_Mutation_p.T1501M|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.T444M|BRCA1_ENST00000351666.3_Missense_Mutation_p.T365M|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.T1548M	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1548					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGATGTTTCCGTCAAATCGTG	0.413000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			7	63					0	0	0.003080	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702608	27702608	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:27702608G>A	ENST00000438700.3	-	1	689	c.572C>T	c.(571-573)aCc>aTc	p.T191I		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	191					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGAGTCGTTGGTGGTGAAATG	0.612000													31	150					0	0	0.003271	0	0
ZNF654	55279	broad.mit.edu	37	3	88189046	88189046	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:88189046G>A	ENST00000309495.5	+	1	793	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CACAGATCAAGAAGGAAACTT	0.348000													4	24					0	0	0.000602	0	0
FHOD3	80206	broad.mit.edu	37	18	34335227	34335227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr18:34335227G>T	ENST00000257209.4	+	22	3975	c.3853G>T	c.(3853-3855)Gcc>Tcc	p.A1285S	FHOD3_ENST00000359247.4_Missense_Mutation_p.A1268S|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1460S|FHOD3_ENST00000592128.1_Missense_Mutation_p.A264S|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1247S|FHOD3_ENST00000591635.1_Missense_Mutation_p.A481S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1268					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACAGAAACGGGCCAACCACAG	0.418000													6	5					5.9392e-07	8.82146e-07	0.001168	1	0
ZNF91	7644	broad.mit.edu	37	19	23543433	23543433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:23543433G>C	ENST00000300619.7	-	4	2553	c.2348C>G	c.(2347-2349)tCa>tGa	p.S783*	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Nonsense_Mutation_p.S751*	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	783						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTTAGGGTTGAAGACCATAT	0.388000													5	61					0	0	0.000602	0	0
TMEM55B	90809	broad.mit.edu	37	14	20926779	20926779	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:20926779A>C	ENST00000250489.4	-	7	1059	c.773T>G	c.(772-774)tTg>tGg	p.L258W	TMEM55B_ENST00000398020.4_Missense_Mutation_p.L265W|TMEM55B_ENST00000554028.1_Missense_Mutation_p.L91W			Q86T03	TM55B_HUMAN	transmembrane protein 55B	258						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		AGCCCGGCCCAAACACAGCAC	0.557000													23	38					0	0	0.002780	0	0
VWF	7450	broad.mit.edu	37	12	6143932	6143932	+	Silent	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:6143932C>G	ENST00000261405.5	-	20	2861	c.2607G>C	c.(2605-2607)acG>acC	p.T869T		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	869	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCATGCCGATCGTGGAGCACG	0.582000													21	42					0	0	0.002780	0	0
OR5T3	390154	broad.mit.edu	37	11	56019936	56019936	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:56019936C>A	ENST00000303059.3	+	1	261	c.261C>A	c.(259-261)aaC>aaA	p.N87K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGCTCCACAACCCCATGTATT	0.353000													14	55					7.93312e-07	1.17141e-06	0.002450	1	0
PRC1	9055	broad.mit.edu	37	15	91523510	91523510	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr15:91523510C>T	ENST00000361188.5	-	7	2143	c.932G>A	c.(931-933)aGc>aAc	p.S311N	PRC1_ENST00000394249.3_Missense_Mutation_p.S311N|PRC1_ENST00000442656.2_Missense_Mutation_p.S270N|PRC1_ENST00000361919.3_Missense_Mutation_p.S311N|PRC1-AS1_ENST00000554388.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	311	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CTGCTCCTGGCTATAAAAGCA	0.458000													40	49					0	0	0.006230	0	0
AMD1	262	broad.mit.edu	37	6	111211547	111211547	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:111211547G>T	ENST00000368885.3	+	4	751	c.415G>T	c.(415-417)Gca>Tca	p.A139S	AMD1_ENST00000368877.5_Missense_Mutation_p.A110S|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368876.1_Missense_Mutation_p.A70S|AMD1_ENST00000368882.3_Intron	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	139					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GTTTCTTAATGCAATTTTCCC	0.333000													16	17					1.00905e-13	1.62283e-13	0.008871	1	0
PLEKHS1	79949	broad.mit.edu	37	10	115535537	115535537	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:115535537G>C	ENST00000354462.3	+	4	351	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	PLEKHS1_ENST00000361048.1_Missense_Mutation_p.E335Q|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.E149Q|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E233Q|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E315Q					pleckstrin homology domain containing, family S member 1																		TATCCCCGATGAAAGCCAAGT	0.433000													27	98					0	0	0.004656	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999952	108999952	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:108999952G>A	ENST00000272452.2	+	5	927	c.601G>A	c.(601-603)Gag>Aag	p.E201K	SULT1C4_ENST00000409309.3_Missense_Mutation_p.E126K	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	201					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCTCTTCTATGAGGACATGAA	0.468000													29	24					0	0	0.008361	0	0
PCDH15	65217	broad.mit.edu	37	10	55569015	55569015	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:55569015C>T	ENST00000395445.1	-	36	5189	c.4795G>A	c.(4795-4797)Gag>Aag	p.E1599K	PCDH15_ENST00000395440.1_Missense_Mutation_p.E533K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E795K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.E464K|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTCCTCCTCTGATTCTACA	0.458000										HNSCC(58;0.16)			46	25					0	0	0.003610	0	0
SPAG17	200162	broad.mit.edu	37	1	118628577	118628577	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:118628577G>A	ENST00000336338.5	-	13	1795	c.1730C>T	c.(1729-1731)aCa>aTa	p.T577I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	577						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTCATGAATTGTAGCTAGACG	0.398000													35	10					0	0	0.004878	0	0
LUC7L	55692	broad.mit.edu	37	16	239225	239225	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr16:239225G>A	ENST00000293872.8	-	10	1198	c.1088C>T	c.(1087-1089)tCa>tTa	p.S363L	LUC7L_ENST00000397783.1_3'UTR|LUC7L_ENST00000337351.4_3'UTR	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	363							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTTCTCTTCTGACCTCCGTGA	0.572000													9	171					0	0	0.008291	0	0
NCOR2	9612	broad.mit.edu	37	12	124857117	124857117	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:124857117G>C	ENST00000356219.3	-	21	2413	c.2258C>G	c.(2257-2259)tCt>tGt	p.S753C	NCOR2_ENST00000404121.2_Missense_Mutation_p.S306C|NCOR2_ENST00000397355.1_Missense_Mutation_p.S736C|NCOR2_ENST00000429285.2_Missense_Mutation_p.S735C|NCOR2_ENST00000405201.1_Missense_Mutation_p.S753C|NCOR2_ENST00000404621.1_Missense_Mutation_p.S735C	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	753					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGTGTGAGGAGAGGGGATGCT	0.672000													32	47					0	0	0.002836	0	0
KCNQ1	3784	broad.mit.edu	37	11	2592631	2592631	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:2592631C>T	ENST00000155840.5	+	4	789	c.681C>T	c.(679-681)atC>atT	p.I227I	KCNQ1_ENST00000335475.5_Silent_p.I100I	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	227					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CGTCGGCCATCAGGTGCGTCT	0.677000													7	29					0	0	0.001984	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615512	70615512	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr4:70615512G>A	ENST00000310613.2	-	4	599	c.302C>T	c.(301-303)cCa>cTa	p.P101L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	101					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCGGGGTGATGGATTCTTCTC	0.383000													13	57					0	0	0.004007	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506767	178506767	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:178506767G>A	ENST00000315475.6	+	5	1640	c.1334G>A	c.(1333-1335)tGt>tAt	p.C445Y		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TGTGAGGAATGTGGGAAAGCC	0.398000													6	80					0	0	0.001168	0	0
RELN	5649	broad.mit.edu	37	7	103293132	103293132	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:103293132C>T	ENST00000428762.1	-	14	1788	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	RELN_ENST00000343529.5_Silent_p.K543K|RELN_ENST00000424685.2_Silent_p.K543K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	543					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTGATGGTTCTTTTGCCTGA	0.418000													6	106					0	0	0.001984	0	0
RIMS2	9699	broad.mit.edu	37	8	104831791	104831791	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:104831791G>T	ENST00000507740.1	+	1	292	c.56G>T	c.(55-57)gGg>gTg	p.G19V	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.G19V|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1011					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATTTTCATGGGGTTTTTTCA	0.348000										HNSCC(12;0.0054)			17	34					1.15088e-07	1.72974e-07	0.004007	1	0
DOCK2	1794	broad.mit.edu	37	5	169174491	169174491	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:169174491A>T	ENST00000256935.8	+	23	2439	c.2359A>T	c.(2359-2361)Act>Tct	p.T787S	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.T279S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	787					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATACAAAACTACCATCCT	0.358000													19	15					0	0	0.001523	0	0
FAM183A	440585	broad.mit.edu	37	1	43621967	43621967	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:43621967G>C	ENST00000410048.1	+	4	400	c.304G>C	c.(304-306)Gat>Cat	p.D102H	FAM183A_ENST00000335282.4_Missense_Mutation_p.D130H|FAM183A_ENST00000409337.1_3'UTR			A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	130										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						GGGCTTAGGAGATGATCACCA	0.473000													15	125					0	0	0.003163	0	0
ABCB1	5243	broad.mit.edu	37	7	87160773	87160773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:87160773G>T	ENST00000265724.3	-	22	2939	c.2522C>A	c.(2521-2523)gCa>gAa	p.A841E	ABCB1_ENST00000543898.1_Missense_Mutation_p.A777E|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	841	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCCAAGATTTGCTATATTCTG	0.348000													33	40					1.42033e-22	2.39089e-22	0.004289	1	0
METTL16	79066	broad.mit.edu	37	17	2367611	2367611	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:2367611G>C	ENST00000263092.5	-	6	746	c.619C>G	c.(619-621)Cct>Gct	p.P207A	METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	207							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						ACAGAACTAGGCGGAGGTCTT	0.398000													16	24					0	0	0.004007	0	0
PKM	5315	broad.mit.edu	37	15	72495446	72495446	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr15:72495446G>A	ENST00000319622.6	-	9	1680	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	PKM_ENST00000568883.1_Silent_p.L243L|PKM_ENST00000568459.1_Silent_p.L408L|PKM_ENST00000449901.2_Intron|PKM_ENST00000389093.3_Silent_p.L408L|PKM_ENST00000335181.5_Intron|PKM_ENST00000565184.1_Silent_p.L408L|PKM_ENST00000565154.1_Silent_p.L408L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						TGGCTTCCATGAGGTCTGTGG	0.537000													10	62					0	0	0.006214	0	0
SASH1	23328	broad.mit.edu	37	6	148867274	148867274	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:148867274C>A	ENST00000367467.3	+	19	3947	c.3472C>A	c.(3472-3474)Cgc>Agc	p.R1158S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1158							protein binding	p.R1158C(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAAGCAGCACCGCATGGCGGT	0.582000													9	14					0.00136819	0.00192999	0.001368	1	0
HIST1H1E	3008	broad.mit.edu	37	6	26157077	26157077	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:26157077G>A	ENST00000304218.3	+	1	519	c.459G>A	c.(457-459)aaG>aaA	p.K153K		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	153					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.K153N(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCGCCAAGAAGACCCCAAAGA	0.602000													5	22					0	0	0.000602	0	0
FAM188B	84182	broad.mit.edu	37	7	30830881	30830881	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:30830881C>T	ENST00000265299.6	+	5	841	c.764C>T	c.(763-765)aCc>aTc	p.T255I	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	255										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTGTCTGCACCCAACAGGAC	0.557000													15	101					0	0	0.003163	0	0
LMBR1	64327	broad.mit.edu	37	7	156619369	156619369	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:156619369G>C	ENST00000353442.4	-	4	485	c.249C>G	c.(247-249)atC>atG	p.I83M	LMBR1_ENST00000354505.4_Missense_Mutation_p.I83M|LMBR1_ENST00000540390.1_Missense_Mutation_p.I62M	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	83						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TTTCATTGCTGATGATTGAGA	0.408000													5	31					0	0	0.001168	0	0
ESPNP	284729	broad.mit.edu	37	1	17046559	17046559	+	RNA	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:17046559C>G	ENST00000492551.1	-	0	93					NR_026567.1																						GCGGTGGGATCCCCACCGCCA	0.607000													5	169					0	0	0.001984	0	0
GPR35	2859	broad.mit.edu	37	2	241569660	241569660	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:241569660G>A	ENST00000319838.5	+	6	1233	c.291G>A	c.(289-291)ctG>ctA	p.L97L	GPR35_ENST00000430267.1_Silent_p.L97L|GPR35_ENST00000438013.2_Silent_p.L128L|GPR35_ENST00000407714.1_Silent_p.L97L|GPR35_ENST00000403859.1_Silent_p.L97L	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	97						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCATCTACCTGACCAACAGGT	0.677000													5	37					0	0	0.000602	0	0
MYH2	4620	broad.mit.edu	37	17	10426935	10426935	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:10426935G>A	ENST00000245503.5	-	37	5734	c.5350C>T	c.(5350-5352)Cac>Tac	p.H1784Y	MYH2_ENST00000397183.2_Missense_Mutation_p.H1784Y|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1784					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGCTCCAGGTGGGCGCTGGTG	0.517000													6	91					0	0	0.001168	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956998	33956998	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:33956998C>T	ENST00000361328.3	+	6	1293	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	ZSCAN20_ENST00000373413.2_Silent_p.V326V	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	380					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)				GCTATAGGGTCAAAAACCTCC	0.587000													20	171					0	0	0.008871	0	0
BTNL2	56244	broad.mit.edu	37	6	32372761	32372761	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:32372761C>T	ENST00000454136.3	-	2	386	c.382G>A	c.(382-384)Gat>Aat	p.D128N	BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.D128N|BTNL2_ENST00000429232.2_Missense_Mutation_p.D128N|BTNL2_ENST00000374993.1_Missense_Mutation_p.D128N|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	128	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TAGTTCCCATCCTGGAAATGG	0.458000													8	138					0	0	0.004482	0	0
SV2A	9900	broad.mit.edu	37	1	149878386	149878386	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:149878386C>T	ENST00000369146.3	-	11	2191	c.1701G>A	c.(1699-1701)gtG>gtA	p.V567V	SV2A_ENST00000369145.1_Silent_p.V567V	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	567					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GACGGCTGTTCACAAACTTGT	0.532000													8	60					0	0	0.003080	0	0
DNAH10	196385	broad.mit.edu	37	12	124349195	124349195	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:124349195C>G	ENST00000409039.3	+	39	6633	c.6608C>G	c.(6607-6609)tCt>tGt	p.S2203C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2203	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S2203F(2)|p.S795F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACATGAATTCTGTGATGGAT	0.473000													3	43					0	0	0.004672	0	0
GRM3	2913	broad.mit.edu	37	7	86468393	86468393	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:86468393G>C	ENST00000361669.2	+	4	2662	c.1563G>C	c.(1561-1563)atG>atC	p.M521I	GRM3_ENST00000546348.1_Missense_Mutation_p.M113I|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.M393I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	521					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGAAGAATATGCAACCAGGGG	0.522000													54	82					0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55721652	55721652	+	Splice_Site	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:55721652C>A	ENST00000373965.2	-	23	3284	c.2889_splice	c.e23-1	p.G964_splice	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Splice_Site_p.G920_splice|PCDH15_ENST00000361849.3_Splice_Site_p.G957_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Splice_Site_p.G935_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Splice_Site_p.G886_splice|PCDH15_ENST00000395430.1_Splice_Site_p.G957_splice|PCDH15_ENST00000414778.1_Splice_Site_p.G962_splice|PCDH15_ENST00000395445.1_Splice_Site_p.G964_splice|PCDH15_ENST00000320301.6_Splice_Site_p.G957_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site_p.G568_splice|PCDH15_ENST00000395438.1_Splice_Site_p.G957_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	957	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G957*(4)|p.G962*(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCAGGTAATCCCtaaaataaa	0.313000										HNSCC(58;0.16)			21	22					7.45023e-12	1.16844e-11	0.001523	1	0
OR2T34	127068	broad.mit.edu	37	1	248737411	248737411	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:248737411G>A	ENST00000328782.2	-	1	669	c.648C>T	c.(646-648)atC>atT	p.I216I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGACCATGATGGGGGTGA	0.572000													154	330					0	0	0.003610	0	0
PLG	5340	broad.mit.edu	37	6	161128812	161128812	+	Missense_Mutation	SNP	G	G	C	rs143079629	byFrequency	TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:161128812G>C	ENST00000308192.9	+	3	329	c.266G>C	c.(265-267)aGa>aCa	p.R89T	PLG_ENST00000366924.2_Missense_Mutation_p.R89T|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	89	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATTAGGATGAGAGATGTAGTT	0.413000													39	76					0	0	0.007835	0	0
KEAP1	9817	broad.mit.edu	37	19	10599866	10599866	+	Splice_Site	SNP	A	A	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:10599866A>T	ENST00000171111.5	-	5	2256		c.e5+1		KEAP1_ENST00000393623.2_Splice_Site	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCAGGGCCTCACCAAGGACGT	0.488000													14	4					0	0	0.003163	0	0
C6orf118	168090	broad.mit.edu	37	6	165715467	165715467	+	Missense_Mutation	SNP	T	T	A	rs138289053		TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:165715467T>A	ENST00000543069.1	-	2	613	c.32A>T	c.(31-33)cAc>cTc	p.H11L	C6orf118_ENST00000230301.8_Missense_Mutation_p.H115L			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	115										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CAGGGCCGTGTGGATGGTGAA	0.657000													26	30					0	0	0.008361	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100562737	100562737	+	RNA	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:100562737C>T	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GGGCGTCTCTCTCTTTGGTTA	0.532000													4	47					0	0	0.000602	0	0
ABCC9	10060	broad.mit.edu	37	12	22063859	22063859	+	Silent	SNP	T	T	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:22063859T>A	ENST00000261200.4	-	7	1064	c.1065A>T	c.(1063-1065)gcA>gcT	p.A355A	ABCC9_ENST00000261201.4_Silent_p.A355A|ABCC9_ENST00000345162.2_Silent_p.A355A	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	355	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGAGAAGAACTGCTAGAACGT	0.403000													28	44					0	0	0.006320	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514969	233514969	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:233514969C>T	ENST00000366624.3	+	9	2478	c.2217C>T	c.(2215-2217)ctC>ctT	p.L739L	MLK4_ENST00000366622.1_Silent_p.L185L	NM_032435.2	NP_115811.2																					GACTGGACCTCAGAGAGCTTC	0.537000													8	89					0	0	0.003080	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38385891	38385891	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr21:38385891G>A	ENST00000329553.2	+	3	422	c.212G>A	c.(211-213)gGa>gAa	p.G71E	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		GGATCAAAGGGAGCCTTTGGG	0.413000													16	4					0	0	0.006122	0	0
CHODL	140578	broad.mit.edu	37	21	19632525	19632525	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr21:19632525C>T	ENST00000299295.2	+	4	947	c.556C>T	c.(556-558)Cca>Tca	p.P186S	CHODL_ENST00000400131.1_Missense_Mutation_p.P145S|CHODL_ENST00000338326.3_Missense_Mutation_p.P145S|CHODL_ENST00000400128.1_Missense_Mutation_p.P145S|CHODL_ENST00000400135.1_Missense_Mutation_p.P145S|CHODL_ENST00000543733.1_Missense_Mutation_p.P167S|CHODL_ENST00000400127.1_Missense_Mutation_p.P145S	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	186					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGAGATTAATCCAACAGCCCC	0.289000													22	32					0	0	0.002780	0	0
CCDC80	151887	broad.mit.edu	37	3	112358314	112358314	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:112358314C>T	ENST00000206423.3	-	2	1392	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	CCDC80_ENST00000439685.2_Missense_Mutation_p.G147R|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	147										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTGTTCTTCCCTGCAAAGCTG	0.562000													36	48					0	0	0.005524	0	0
NAV3	89795	broad.mit.edu	37	12	78400423	78400423	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:78400423C>A	ENST00000397909.2	+	8	1278	c.1105C>A	c.(1105-1107)Cct>Act	p.P369T	NAV3_ENST00000228327.6_Missense_Mutation_p.P369T|NAV3_ENST00000536525.2_Missense_Mutation_p.P369T|NAV3_ENST00000266692.7_Missense_Mutation_p.P369T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	369						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGAAGCCACCTGTCTCAGA	0.527000										HNSCC(70;0.22)			31	30					0.00127121	0.00179821	0.007291	1	0
ZNF292	23036	broad.mit.edu	37	6	87969704	87969704	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:87969704G>T	ENST00000369577.3	+	8	6400	c.6357G>T	c.(6355-6357)caG>caT	p.Q2119H	ZNF292_ENST00000339907.4_Missense_Mutation_p.Q2114H	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTGTTCACCAGGGATGCTTTG	0.428000													11	32					1.61879e-10	2.52312e-10	0.001368	1	0
YRDC	79693	broad.mit.edu	37	1	38272818	38272818	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:38272818C>T	ENST00000373044.2	-	2	463	c.459G>A	c.(457-459)atG>atA	p.M153I	C1orf122_ENST00000373043.1_5'UTR	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	153	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGAGCGTTCCATCACCAGGG	0.512000													7	113					0	0	0.000978	0	0
TTC40	54777	broad.mit.edu	37	10	134627716	134627716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:134627716C>T	ENST00000368586.5	-	54	7428	c.7328G>A	c.(7327-7329)aGa>aAa	p.R2443K	TTC40_ENST00000263170.5_Missense_Mutation_p.R604K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	604										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTCTTGGAATCTTTCCAAAAT	0.537000													4	52					0	0	0.001168	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956899	33956899	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:33956899C>T	ENST00000361328.3	+	6	1194	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	ZSCAN20_ENST00000373413.2_Silent_p.L293L	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	347					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)				CTGAAAAGCTCCGGACTTGTC	0.532000													19	142					0	0	0.008871	0	0
ITGA10	8515	broad.mit.edu	37	1	145536860	145536860	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:145536860C>T	ENST00000369304.3	+	18	2415	c.2240C>T	c.(2239-2241)tCa>tTa	p.S747L	ITGA10_ENST00000538811.1_Missense_Mutation_p.S616L|ITGA10_ENST00000539363.1_Missense_Mutation_p.S604L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	747					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGGATACATCAGATTACCTC	0.468000													25	254					0	0	0.003954	0	0
REG3A	5068	broad.mit.edu	37	2	79384745	79384745	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:79384745G>T	ENST00000393878.1	-	4	667	c.413C>A	c.(412-414)tCc>tAc	p.S138Y	REG3A_ENST00000305165.2_Missense_Mutation_p.S138Y|REG3A_ENST00000409839.3_Missense_Mutation_p.S138Y	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	138	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TGAGATGGTGGAGGGATTTCT	0.537000													46	37					5.20006e-24	8.93208e-24	0.002852	1	0
NR4A3	8013	broad.mit.edu	37	9	102595602	102595602	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:102595602C>T	ENST00000330847.1	+	4	1197	c.1153C>T	c.(1153-1155)Ctg>Ttg	p.L385L	NR4A3_ENST00000338488.4_Silent_p.L374L|NR4A3_ENST00000395097.2_Silent_p.L374L			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	374					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGAGGTCGTCTGCCTTCCAA	0.453000			T	EWSR1	extraskeletal myxoid chondrosarcoma								7	58					0	0	0.003080	0	0
KIAA2026	158358	broad.mit.edu	37	9	5921793	5921793	+	Silent	SNP	A	A	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:5921793A>G	ENST00000399933.3	-	8	4202	c.4203T>C	c.(4201-4203)atT>atC	p.I1401I	KIAA2026_ENST00000381461.2_Silent_p.I1371I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1401	Ser-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TACTAGAACAAATAGAGGACT	0.388000													3	94					0	0	0.004672	0	0
F5	2153	broad.mit.edu	37	1	169510973	169510973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:169510973G>A	ENST00000367796.3	-	13	3571	c.3370C>T	c.(3370-3372)Cag>Tag	p.Q1124*	F5_ENST00000367797.3_Nonsense_Mutation_p.Q1119*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1119	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGCACTGTCTGATAAAGACCT	0.478000													13	161					0	0	0.001368	0	0
FBXO7	25793	broad.mit.edu	37	22	32889176	32889176	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr22:32889176C>G	ENST00000266087.7	+	7	1379	c.1052C>G	c.(1051-1053)tCc>tGc	p.S351C	FBXO7_ENST00000382058.3_Missense_Mutation_p.S272C|FBXO7_ENST00000397426.1_Missense_Mutation_p.S237C	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	351	F-box.				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GATGTTCGTTCCGTCTTGTCT	0.448000													5	79					0	0	0.000602	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33957289	33957289	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:33957289C>T	ENST00000361328.3	+	6	1584	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	ZSCAN20_ENST00000373413.2_Silent_p.F423F	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	477					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)				CAGCTCTGTTCCAGAGTCGTA	0.547000													32	158					0	0	0.005524	0	0
ZNF724P	440519	broad.mit.edu	37	19	23405372	23405372	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:23405372C>G	ENST00000418100.1	-	4	1792	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TAGGGTTTCTCTCCAGTATGA	0.368000													15	22					0	0	0.002450	0	0
ATP1B3	483	broad.mit.edu	37	3	141622499	141622499	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:141622499C>T	ENST00000462082.1	+	2	94	c.8C>T	c.(7-9)tCc>tTc	p.S3F	ATP1B3_ENST00000286371.3_Silent_p.F49F|ATP1B3_ENST00000539728.1_Silent_p.F35F			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	0					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						TTTATGGGTTCCTGGCTGCAC	0.423000													10	93					0	0	0.000978	0	0
ASPM	259266	broad.mit.edu	37	1	197074284	197074284	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:197074284C>G	ENST00000367409.4	-	18	4353	c.4097G>C	c.(4096-4098)aGa>aCa	p.R1366T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1366	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCAGAAATCTTTGTCTAGT	0.303000													3	82					0	0	0.004672	0	0
HUNK	30811	broad.mit.edu	37	21	33346965	33346965	+	Missense_Mutation	SNP	G	G	C	rs62221640		TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr21:33346965G>C	ENST00000270112.2	+	7	1469	c.1109G>C	c.(1108-1110)cGc>cCc	p.R370P	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	370					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CTCTCCAACCGCGCCTGCCAC	0.542000													46	14					0	0	0.003610	0	0
RNF20	56254	broad.mit.edu	37	9	104307162	104307162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:104307162C>T	ENST00000389120.3	+	6	832	c.742C>T	c.(742-744)Cag>Tag	p.Q248*		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	248					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CACCATGTCTCAGGAGGTACT	0.468000													20	146					0	0	0.001882	0	0
OR7C1	26664	broad.mit.edu	37	19	14910938	14910938	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:14910938C>T	ENST00000248073.2	-	1	85	c.11G>A	c.(10-12)gGa>gAa	p.G4E	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	4					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						TGTTTGATTTCCTGTTTCCAT	0.393000													55	13					0	0	0.003610	0	0
CELF2	10659	broad.mit.edu	37	10	11047380	11047380	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:11047380G>A	ENST00000379261.4	+	1	122	c.30G>A	c.(28-30)atG>atA	p.M10I	CELF2_ENST00000416382.2_Missense_Mutation_p.M10I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	10	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CTGTTACTATGAGAAATGAAG	0.413000													28	253					0	0	0.002096	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330868	39330868	+	Silent	SNP	T	T	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:39330868T>G	ENST00000221419.5	-	8	1467	c.1101A>C	c.(1099-1101)ccA>ccC	p.P367P	HNRNPL_ENST00000600873.1_Silent_p.P234P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	367	Pro-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.P367P(1)|p.P234P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGGAGGGGGTGGGGGGTGCC	0.642000													3	11					0	0	0.001984	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399987	90399987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:90399987G>T	ENST00000337338.5	+	3	1767	c.1360G>T	c.(1360-1362)Gag>Tag	p.E454*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.E454*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	454						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TTTGAACCATGAGTGGACATT	0.453000													23	5					1.64293e-13	2.63391e-13	0.003330	1	0
ITGB6	3694	broad.mit.edu	37	2	161052915	161052915	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:161052915G>C	ENST00000283249.2	-	3	395	c.158C>G	c.(157-159)tCt>tGt	p.S53C	ITGB6_ENST00000428609.2_Missense_Mutation_p.S11C|ITGB6_ENST00000409872.1_Missense_Mutation_p.S53C|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.S53C			P18564	ITB6_HUMAN	integrin, beta 6	53					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCCAACTCCAGATGGATGAGT	0.318000													9	106					0	0	0.004482	0	0
EDIL3	10085	broad.mit.edu	37	5	83476317	83476317	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:83476317G>T	ENST00000296591.5	-	4	667	c.249C>A	c.(247-249)tgC>tgA	p.C83*	EDIL3_ENST00000380138.3_Nonsense_Mutation_p.C73*	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	83	EGF-like 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTCCATTATGGCATGGATTAG	0.378000													8	4					3.86212e-05	5.62066e-05	0.008291	1	0
SH2B2	10603	broad.mit.edu	37	7	101957803	101957803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:101957803C>T	ENST00000536178.1	+	8	1492	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	SH2B2_ENST00000306803.8_Nonsense_Mutation_p.Q445*			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	446	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CGTGATCCGCCAAAGTGAGAC	0.647000													13	20					0	0	0.002450	0	0
ATP13A4	84239	broad.mit.edu	37	3	193156315	193156315	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:193156315G>A	ENST00000342695.4	-	23	2943	c.2621C>T	c.(2620-2622)tCa>tTa	p.S874L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.S855L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	874					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGTGAAAGGTGAGGCCACAGA	0.448000													6	28					0	0	0.001168	0	0
PROS1	5627	broad.mit.edu	37	3	93603605	93603605	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:93603605C>T	ENST00000394236.3	-	12	1775	c.1459G>A	c.(1459-1461)Ggt>Agt	p.G487S	PROS1_ENST00000407433.1_Missense_Mutation_p.G356S	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	487	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ATTCCAGAACCAGGATAGTAG	0.318000													6	45					0	0	0.004482	0	0
CPXM1	56265	broad.mit.edu	37	20	2776781	2776781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr20:2776781C>A	ENST00000380605.2	-	10	1333	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	423					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCCAGCGGCCCTCGGCCCAGC	0.592000													23	30					6.36457e-07	9.42554e-07	0.003954	1	0
TRBV4-2	28616	broad.mit.edu	37	7	142045659	142045659	+	RNA	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:142045659G>T	ENST00000390392.3	+	0	298																											GAAGCCACTGGAGCTCATGTT	0.428000													36	224					1.25742e-37	2.19722e-37	0.003610	1	0
GABRG2	2566	broad.mit.edu	37	5	161524807	161524807	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:161524807C>T	ENST00000356592.3	+	4	951	c.491C>T	c.(490-492)aCc>aTc	p.T164I	GABRG2_ENST00000414552.2_Missense_Mutation_p.T164I|GABRG2_ENST00000393933.4_Missense_Mutation_p.T69I|GABRG2_ENST00000361925.4_Missense_Mutation_p.T164I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	164					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CACTGGATCACCACCCCCAAC	0.423000													5	92					0	0	0.000602	0	0
BRAT1	221927	broad.mit.edu	37	7	2577957	2577957	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:2577957C>T	ENST00000340611.4	-	14	2468	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	738					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCCCTGGCCTCCCGCAGGCTG	0.662000													10	48					0	0	0.008291	0	0
DNAH9	1770	broad.mit.edu	37	17	11837248	11837248	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:11837248C>A	ENST00000262442.3	+	65	12417	c.12349C>A	c.(12349-12351)Cat>Aat	p.H4117N	DNAH9_ENST00000454412.2_Missense_Mutation_p.H4041N|DNAH9_ENST00000396001.2_Missense_Mutation_p.H429N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4117					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTATGGAGGCCATATCACAGA	0.488000													12	27					0.00010058	0.000144709	0.001368	1	0
MDGA2	161357	broad.mit.edu	37	14	47530459	47530459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:47530459G>T	ENST00000426342.1	-	7	1370	c.624C>A	c.(622-624)agC>agA	p.S208R	MDGA2_ENST00000439988.2_Missense_Mutation_p.S437R|MDGA2_ENST00000357362.3_Missense_Mutation_p.S208R|MDGA2_ENST00000399232.2_Missense_Mutation_p.S506R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	437	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TACCTGTGCTGCTGGATATAT	0.318000													10	63					0.00621372	0.00871646	0.006214	1	0
FMN2	56776	broad.mit.edu	37	1	240370837	240370837	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:240370837C>G	ENST00000319653.9	+	5	2955	c.2725C>G	c.(2725-2727)Cca>Gca	p.P909A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	909	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGAAATGCTGCCACCCCCTCC	0.662000													74	56					0	0	0.003610	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147051334	147051334	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:147051334G>A	ENST00000265272.5	-	2	503	c.36C>T	c.(34-36)ccC>ccT	p.P12P	JAKMIP2_ENST00000333010.6_Intron|JAKMIP2_ENST00000507386.1_Silent_p.P12P	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	12						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTGCCTCGGGCTTCTCGC	0.473000													33	36					0	0	0.002836	0	0
COL6A3	1293	broad.mit.edu	37	2	238287566	238287566	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:238287566C>G	ENST00000295550.4	-	6	2662	c.2210G>C	c.(2209-2211)aGc>aCc	p.S737T	COL6A3_ENST00000392003.2_Missense_Mutation_p.S330T|COL6A3_ENST00000409809.1_Missense_Mutation_p.S531T|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.S536T|COL6A3_ENST00000353578.4_Missense_Mutation_p.S531T|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.S531T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	737	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGGATCCTGCTGCCGCCAGC	0.612000													3	36					0	0	0.000248	0	0
NR5A1	2516	broad.mit.edu	37	9	127245274	127245274	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:127245274G>C	ENST00000373588.4	-	7	1345	c.1149C>G	c.(1147-1149)ttC>ttG	p.F383L		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	383	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GGTTATTCAGGAACTTCAAAT	0.572000													5	111					0	0	0.000602	0	0
RASGRP1	10125	broad.mit.edu	37	15	38805044	38805044	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr15:38805044G>A	ENST00000310803.5	-	7	966	c.789C>T	c.(787-789)ctC>ctT	p.L263L	RASGRP1_ENST00000558164.1_Silent_p.L263L|RASGRP1_ENST00000450598.2_Silent_p.L263L|RASGRP1_ENST00000559830.1_Silent_p.L263L|RASGRP1_ENST00000561180.1_Silent_p.L314L|RASGRP1_ENST00000539159.1_Silent_p.L215L	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	263	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGGGCGGCTGAGAACCATCA	0.502000													4	9					0	0	0.000248	0	0
COL3A1	1281	broad.mit.edu	37	2	189860870	189860870	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:189860870G>A	ENST00000304636.3	+	23	1798	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G543E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	543	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAAGTCCAGGAGGACCAGGA	0.363000													4	58					0	0	0.000602	0	0
TAF1L	138474	broad.mit.edu	37	9	32633431	32633431	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:32633431G>T	ENST00000242310.4	-	1	2236	c.2147C>A	c.(2146-2148)gCa>gAa	p.A716E		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	716					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TATCTTGGTTGCCATGCCAAC	0.418000													41	73					4.17593e-13	6.65251e-13	0.007835	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200818734	200818734	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:200818734C>T	ENST00000358823.2	+	11	3107	c.2837C>T	c.(2836-2838)gCa>gTa	p.A946V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A930V|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.A957V	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	957						cytoplasm|microtubule	protein binding										TCAGCCATTGCACCATTCTCC	0.473000													10	251					0	0	0.000978	0	0
BBX	56987	broad.mit.edu	37	3	107491703	107491703	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:107491703G>A	ENST00000415149.2	+	11	1462	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	BBX_ENST00000402543.1_Missense_Mutation_p.D379N|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.D379N|BBX_ENST00000406780.1_Missense_Mutation_p.D379N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ATTGCAAATAGATGACATAAT	0.313000													6	70					0	0	0.001168	0	0
CHD7	55636	broad.mit.edu	37	8	61655605	61655605	+	Silent	SNP	A	A	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:61655605A>T	ENST00000423902.2	+	2	2093	c.1614A>T	c.(1612-1614)gcA>gcT	p.A538A	CHD7_ENST00000524602.1_Silent_p.A538A|CHD7_ENST00000525508.1_Silent_p.A538A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	538	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGCCTTGGGCACAGCTCCACC	0.567000													8	22					0	0	0.004482	0	0
ITIH1	3697	broad.mit.edu	37	3	52825615	52825615	+	Silent	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:52825615G>T	ENST00000273283.2	+	21	2601	c.2577G>T	c.(2575-2577)gtG>gtT	p.V859V	ITIH1_ENST00000540715.1_Silent_p.V717V|ITIH1_ENST00000537050.1_Silent_p.V571V|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000405128.3_Silent_p.V225V	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	859	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCACGATGGTGGTGAGGAACC	0.582000													31	47					6.00712e-18	9.91372e-18	0.002445	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128932353	128932353	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:128932353C>G	ENST00000274487.4	+	8	1601	c.1456C>G	c.(1456-1458)Cac>Gac	p.H486D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	486	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGAAATGGGTCACAAGTAAGT	0.313000													40	13					0	0	0.006999	0	0
ABCA13	154664	broad.mit.edu	37	7	48259079	48259079	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:48259079G>T	ENST00000435803.1	+	4	440	c.416G>T	c.(415-417)tGg>tTg	p.W139L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	139					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAAGACTTTGGGTAGAACGA	0.438000													73	91					1.38806e-43	2.45095e-43	0.003610	1	0
MICALL2	79778	broad.mit.edu	37	7	1477738	1477738	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:1477738T>A	ENST00000297508.7	-	12	2481	c.2306A>T	c.(2305-2307)gAg>gTg	p.E769V	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.E557V	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	769						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTCACCTCCCTCGGCCGCCCG	0.726000													3	2					0	0	0.004672	0	0
MITF	4286	broad.mit.edu	37	3	70014355	70014355	+	Silent	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:70014355C>A	ENST00000352241.4	+	10	1682	c.1519C>A	c.(1519-1521)Cgg>Agg	p.R507R	MITF_ENST00000448226.2_Silent_p.R513R|MITF_ENST00000394355.2_Silent_p.R482R|MITF_ENST00000328528.6_Silent_p.R506R|MITF_ENST00000314557.6_Silent_p.R400R|MITF_ENST00000394351.3_Silent_p.R406R|MITF_ENST00000472437.1_Silent_p.R455R|MITF_ENST00000314589.5_Silent_p.R491R|MITF_ENST00000531774.1_Silent_p.R344R	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	513					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AACAAGCAGCCGGAGGAGCAG	0.522000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						28	46					2.47511e-08	3.75354e-08	0.008361	1	0
USH1C	10083	broad.mit.edu	37	11	17553076	17553076	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:17553076C>G	ENST00000005226.7	-	3	117	c.118G>C	c.(118-120)Gcc>Ccc	p.A40P	USH1C_ENST00000527720.1_Missense_Mutation_p.A9P|USH1C_ENST00000527020.1_Missense_Mutation_p.A40P|USH1C_ENST00000318024.4_Missense_Mutation_p.A40P	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	40					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ACGAGCACGGCCACGTCCATG	0.602000													7	21					0	0	0.003080	0	0
ELF1	1997	broad.mit.edu	37	13	41533103	41533103	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr13:41533103C>A	ENST00000239882.3	-	3	436	c.122G>T	c.(121-123)gGt>gTt	p.G41V	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.G41V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	41					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AATATCAGCACCAGGAACATG	0.423000													24	43					1.1804e-14	1.91058e-14	0.003954	1	0
MTF2	22823	broad.mit.edu	37	1	93586141	93586141	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:93586141G>T	ENST00000370298.4	+	9	1122	c.833G>T	c.(832-834)aGt>aTt	p.S278I	MTF2_ENST00000540243.1_Missense_Mutation_p.S176I|MTF2_ENST00000471953.1_Intron|MTF2_ENST00000545708.1_Missense_Mutation_p.S176I|MTF2_ENST00000370303.4_Missense_Mutation_p.S278I	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	278						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TACAACCTAAGTGTTATTCAT	0.353000													13	25					2.68362e-12	4.23509e-12	0.001368	1	0
LEMD1	93273	broad.mit.edu	37	1	205350899	205350899	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:205350899C>T	ENST00000367153.4	-	6	535	c.433G>A	c.(433-435)Gag>Aag	p.E145K	LEMD1_ENST00000391936.2_Silent_p.S97S|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367154.1_Silent_p.S97S|LEMD1_ENST00000367149.3_Silent_p.S56S|LEMD1_ENST00000367152.1_Missense_Mutation_p.E104K|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367151.2_Missense_Mutation_p.E104K	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	145						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CTCCAGCTCTCGATAGTCTGG	0.478000													12	264					0	0	0.000978	0	0
PROX1	5629	broad.mit.edu	37	1	214169925	214169925	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:214169925G>A	ENST00000366958.4	+	2	655	c.47G>A	c.(46-48)aGg>aAg	p.R16K	PROX1_ENST00000435016.1_Missense_Mutation_p.R16K|PROX1_ENST00000498508.2_Missense_Mutation_p.R16K|PROX1_ENST00000261454.4_Missense_Mutation_p.R16K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	16					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAAACCAAGAGGAGAAGAGTT	0.493000													76	53					0	0	0.003610	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028515	59028515	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:59028515G>T	ENST00000594051.1	-	2	1006	c.526C>A	c.(526-528)Ccc>Acc	p.P176T	ZBTB45_ENST00000354590.3_Missense_Mutation_p.P176T|ZBTB45_ENST00000600990.1_Missense_Mutation_p.P176T			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	176	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AAACGCGCGGGCTGGCGCTGC	0.716000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	17					7.41877e-09	1.13187e-08	0.001882	1	0
CSPP1	79848	broad.mit.edu	37	8	68066321	68066321	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:68066321G>A	ENST00000262210.5	+	17	2207	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	CSPP1_ENST00000412460.1_Missense_Mutation_p.E381K	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	761						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCCTCCAACTGAACTTCAGAT	0.338000													21	20					0	0	0.002780	0	0
NBEAL2	23218	broad.mit.edu	37	3	47039673	47039673	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:47039673C>T	ENST00000450053.3	+	21	3254	c.3075C>T	c.(3073-3075)ttC>ttT	p.F1025F	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.F1025F	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1025							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATTTGCTCTTCAACTTTCACC	0.607000													5	17					0	0	0.001168	0	0
AGPAT4	56895	broad.mit.edu	37	6	161567586	161567586	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:161567586C>T	ENST00000320285.4	-	7	1025	c.813G>A	c.(811-813)tcG>tcA	p.S271S	AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Silent_p.S109S|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	271					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GCAGCCAGGCCGAGCACTCGT	0.597000													5	59					0	0	0.000602	0	0
RYR2	6262	broad.mit.edu	37	1	237838040	237838040	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:237838040G>T	ENST00000366574.2	+	60	9041	c.8724G>T	c.(8722-8724)aaG>aaT	p.K2908N	RYR2_ENST00000542537.1_Missense_Mutation_p.K2892N|RYR2_ENST00000360064.6_Missense_Mutation_p.K2906N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2908	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGGATTTAAGGACCTGGAAC	0.383000													17	36					5.35267e-07	7.97374e-07	0.007413	1	0
FGL1	2267	broad.mit.edu	37	8	17731590	17731590	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:17731590A>G	ENST00000398056.2	-	7	1255	c.440T>C	c.(439-441)tTt>tCt	p.F147S	FGL1_ENST00000398054.1_Missense_Mutation_p.F147S|FGL1_ENST00000381841.2_Missense_Mutation_p.F147S|FGL1_ENST00000518650.1_Missense_Mutation_p.F147S|FGL1_ENST00000381840.2_Missense_Mutation_p.F147S|FGL1_ENST00000522444.1_Missense_Mutation_p.F147S|FGL1_ENST00000427924.1_Missense_Mutation_p.F147S			Q08830	FGL1_HUMAN	fibrinogen-like 1	147	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TTTTTGGACAAAATTTCCAAA	0.368000													23	31					0	0	0.003954	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18163777	18163777	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr20:18163777G>A	ENST00000278816.2	+	9	2469	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.E606K|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.E607K|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.E479K			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	607					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GCGTGATTATGAAACAAAGCC	0.468000													12	101					0	0	0.000978	0	0
CSMD1	64478	broad.mit.edu	37	8	2807771	2807771	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:2807771G>C	ENST00000520002.1	-	68	10854	c.10299C>G	c.(10297-10299)aaC>aaG	p.N3433K	CSMD1_ENST00000602723.1_Missense_Mutation_p.N3256K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N3256K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N3433K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N3255K|CSMD1_ENST00000537824.1_Missense_Mutation_p.N3432K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3433						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTAGTCCCCAGTTGTCATTTT	0.433000													67	91					0	0	0.003610	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459563	107459563	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:107459563G>T	ENST00000409382.3	-	2	1481	c.871C>A	c.(871-873)Cgc>Agc	p.R291S	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R291S|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R291S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	291					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R291C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCAGGCCGCGGGGGTGCAGC	0.716000													12	11					3.07112e-06	4.4954e-06	0.000978	1	0
PDZD8	118987	broad.mit.edu	37	10	119044119	119044119	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:119044119T>C	ENST00000334464.5	-	5	2364	c.2125A>G	c.(2125-2127)Agg>Ggg	p.R709G	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	709					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TTTAAGTACCTGTGACAGGCT	0.413000													60	60					0	0	0.003610	0	0
PRKAR2A	5576	broad.mit.edu	37	3	48884962	48884962	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:48884962C>T	ENST00000265563.8	-	1	317	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R23Q|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R23Q	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	23	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CGGCTGCTGTCGCAGCACCTC	0.711000													3	9					0	0	0.000248	0	0
OR8U1	219417	broad.mit.edu	37	11	56143609	56143609	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:56143609C>A	ENST00000302270.1	+	1	510	c.510C>A	c.(508-510)caC>caA	p.H170Q		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CCTATTGCCACTCCAACATTG	0.468000													22	195					1.04121e-07	1.56959e-07	0.005443	1	0
DENND4C	55667	broad.mit.edu	37	9	19296154	19296154	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:19296154C>G	ENST00000380432.2	+	2	275	c.242C>G	c.(241-243)tCa>tGa	p.S81*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.S317*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.S317*|DENND4C_ENST00000307015.9_5'UTR	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	81	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGTTTACTCTCACACTGGCCT	0.378000													10	107					0	0	0.006214	0	0
PCSK5	5125	broad.mit.edu	37	9	78749031	78749031	+	Silent	SNP	T	T	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:78749031T>C	ENST00000545128.1	+	10	1753	c.1215T>C	c.(1213-1215)ttT>ttC	p.F405F	PCSK5_ENST00000376752.4_Silent_p.F405F|PCSK5_ENST00000376767.3_Silent_p.F405F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	405	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCAGTCCGTTTCTGACCTGGA	0.418000													35	30					0	0	0.003755	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182020	140182020	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:140182020T>A	ENST00000522353.2	+	1	1238	c.1238T>A	c.(1237-1239)cTg>cAg	p.L413Q	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L413Q|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGCCCTCTGGACCGCGAG	0.637000													135	113					0	0	0.003610	0	0
COL4A2	1284	broad.mit.edu	37	13	111160425	111160425	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr13:111160425G>C	ENST00000360467.5	+	47	5044	c.4738G>C	c.(4738-4740)Gag>Cag	p.E1580Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1580	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCCCGTGGCCGAGGACGAGAT	0.617000													8	53					0	0	0.004482	0	0
INSR	3643	broad.mit.edu	37	19	7152778	7152778	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:7152778C>T	ENST00000341500.5	-	10	2229	c.2190G>A	c.(2188-2190)aaG>aaA	p.K730K	INSR_ENST00000302850.5_Silent_p.K730K	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	730					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTCAAACGTCTTCCTAAACG	0.542000													21	80					0	0	0.001882	0	0
KMT2C	58508	broad.mit.edu	37	7	151849853	151849853	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:151849853G>A	ENST00000355193.2	-	50	12852	c.12634C>T	c.(12634-12636)Ccc>Tcc	p.P4212S	KMT2C_ENST00000262189.6_Missense_Mutation_p.P4155S					lysine (K)-specific methyltransferase 2C																		ACTAATCTGGGAGGGTTTGCA	0.502000													11	110					0	0	0.000978	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421034	55421034	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:55421034C>G	ENST00000242994.3	+	2	1189	c.811C>G	c.(811-813)Cct>Gct	p.P271A		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	271					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P271T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGATGGGTCTCCTGACCTAGA	0.532000													31	117					0	0	0.007291	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69053219	69053219	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:69053219C>A	ENST00000295381.3	+	11	2250	c.1831C>A	c.(1831-1833)Cgc>Agc	p.R611S	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R605S|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R305S|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R572S|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R612S|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R604S	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	611					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R605C(1)|p.R612C(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GATCAGCCTCCGCAACATGGA	0.483000													31	61					3.1745e-13	5.07317e-13	0.008361	1	0
MYLK2	85366	broad.mit.edu	37	20	30418882	30418882	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr20:30418882G>A	ENST00000375994.2	+	9	1635	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.V454V			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	454	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGAGGTGGTGAATTATGACC	0.542000													27	86					0	0	0.003954	0	0
SMC1A	8243	broad.mit.edu	37	X	53409204	53409204	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrX:53409204G>A	ENST00000322213.4	-	22	3513	c.3386C>T	c.(3385-3387)tCa>tTa	p.S1129L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1129	Ala/Asp-rich (DA-box).				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCCCCGCCTGACAAGTTGTC	0.572000													10	20					0	0	0.000978	0	0
SUCO	51430	broad.mit.edu	37	1	172543059	172543059	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:172543059C>G	ENST00000367723.3	+	10	1679	c.1555C>G	c.(1555-1557)Caa>Gaa	p.Q519E	SUCO_ENST00000263688.3_Missense_Mutation_p.Q360E	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TGAACCAATTCAAGTAAAACA	0.274000													3	46					0	0	0.000248	0	0
PPP1R10	5514	broad.mit.edu	37	6	30570166	30570166	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:30570166G>A	ENST00000376511.2	-	19	2812	c.2260C>T	c.(2260-2262)Cac>Tac	p.H754Y		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	754	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GGGCCTTCGTGAGGACGATGC	0.677000													14	159					0	0	0.002450	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4967015	4967015	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrY:4967015A>T	ENST00000333703.4	+	5	1876	c.1363A>T	c.(1363-1365)Att>Ttt	p.I455F	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.I466F|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.I466F	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	466	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAATATGCCATTAAATTACT	0.393000													2	0					0	0	0.004672	0	0
SYN1	6853	broad.mit.edu	37	X	47435805	47435805	+	Splice_Site	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrX:47435805C>T	ENST00000295987.7	-	8	1105	c.980_splice	c.e8-1	p.M327_splice	SYN1_ENST00000340666.4_Splice_Site_p.M327_splice	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	327	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CTGACGTCCTCCTGGGGGACA	0.597000													6	25					0	0	0.001984	0	0
ITM2B	9445	broad.mit.edu	37	13	48832951	48832951	+	Nonsense_Mutation	SNP	C	C	T	rs11556901		TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr13:48832951C>T	ENST00000378565.5	+	5	786	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	ITM2B_ENST00000378549.5_Nonsense_Mutation_p.Q89*	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	195	BRICHOS.				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTATTTGCCTCAGTCCTATCT	0.373000													5	45					0	0	0.001168	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558698	140558698	+	Silent	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:140558698G>T	ENST00000239444.2	+	1	1328	c.1083G>T	c.(1081-1083)gcG>gcT	p.A361A		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		361	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGAATGCGCCTGAAACTG	0.448000													74	155					1.10345e-40	1.93488e-40	0.003610	1	0
BCL9	607	broad.mit.edu	37	1	147086252	147086252	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:147086252T>A	ENST00000234739.3	+	6	1137	c.397T>A	c.(397-399)Tcc>Acc	p.S133T	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	133					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCACATAAAGTCCCAGGATTC	0.458000			T	"""IGH@, IGL@"""	B-ALL								7	77					0	0	0.004482	0	0
ANKRD27	84079	broad.mit.edu	37	19	33130317	33130317	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:33130317G>A	ENST00000306065.4	-	12	1219	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	ANKRD27_ENST00000587352.1_Missense_Mutation_p.S354L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	354	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGCTTCGAATGAGGTCAGGCA	0.458000													9	69					0	0	0.004482	0	0
TRPS1	7227	broad.mit.edu	37	8	116632277	116632277	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:116632277C>T	ENST00000395715.3	-	3	625	c.48G>A	c.(46-48)cgG>cgA	p.R16R	TRPS1_ENST00000519076.1_Silent_p.R3R|TRPS1_ENST00000519674.1_Silent_p.R3R|TRPS1_ENST00000520276.1_Silent_p.R7R|TRPS1_ENST00000220888.5_Silent_p.R3R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	3					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGTTCTTTTTCCGGACCATAT	0.413000									Langer-Giedion syndrome				4	85					0	0	0.000248	0	0
ALPK2	115701	broad.mit.edu	37	18	56247303	56247303	+	Silent	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr18:56247303C>A	ENST00000361673.3	-	4	918	c.705G>T	c.(703-705)gtG>gtT	p.V235V		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	235							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCATGGAATGCACTGTCTTGT	0.388000													83	71					3.7744e-50	6.75912e-50	0.003610	1	0
P4HA2	8974	broad.mit.edu	37	5	131534590	131534590	+	Silent	SNP	C	C	T	rs141851075		TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:131534590C>T	ENST00000401867.1	-	12	1855	c.1287G>A	c.(1285-1287)ccG>ccA	p.P429P	P4HA2_ENST00000379100.2_Silent_p.P429P|P4HA2_ENST00000360568.3_Silent_p.P429P|P4HA2_ENST00000166534.4_Silent_p.P429P|P4HA2_ENST00000379104.2_Silent_p.P429P|P4HA2_ENST00000379086.1_Silent_p.P429P			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	429	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AGTCGAAGTGCGGTTCATACT	0.483000													17	8					0	0	0.007413	0	0
PRKX	5613	broad.mit.edu	37	X	3533909	3533909	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrX:3533909G>C	ENST00000262848.5	-	7	1252	c.898C>G	c.(898-900)Cat>Gat	p.H300D	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	300	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				AACCACCGATGATGCTTCACA	0.473000													3	7					0	0	0.000248	0	0
BRINP1	1620	broad.mit.edu	37	9	121929547	121929547	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:121929547C>A	ENST00000265922.3	-	8	2562	c.2101G>T	c.(2101-2103)Gac>Tac	p.D701Y	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		701					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTAATTCGGTCCCGAATATCC	0.572000													30	70					3.80469e-20	6.36215e-20	0.001786	1	0
MSR1	4481	broad.mit.edu	37	8	16035465	16035465	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:16035465C>T	ENST00000350896.3	-	2	230	c.33G>A	c.(31-33)caG>caA	p.Q11Q	MSR1_ENST00000381998.4_Silent_p.Q11Q|MSR1_ENST00000445506.2_Silent_p.Q29Q|MSR1_ENST00000262101.5_Silent_p.Q11Q|MSR1_ENST00000536385.1_5'UTR|MSR1_ENST00000355282.2_Silent_p.Q11Q	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	11					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAGTGTCCTCCTGTTGATTGT	0.433000													13	31					0	0	0.004007	0	0
SPTBN4	57731	broad.mit.edu	37	19	41081435	41081435	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:41081435G>A	ENST00000352632.3	+	36	7741	c.7655G>A	c.(7654-7656)aGg>aAg	p.R2552K	SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R2552K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R1295K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2552					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AACCCTAAGAGGGAAGGCGGA	0.622000													6	13					0	0	0.001984	0	0
DMBT1	1755	broad.mit.edu	37	10	124336136	124336136	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:124336136G>T	ENST00000368909.3	+	7	611	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L	DMBT1_ENST00000359586.6_Missense_Mutation_p.V169L|DMBT1_ENST00000368956.2_Missense_Mutation_p.V169L|DMBT1_ENST00000338354.3_Missense_Mutation_p.V169L|DMBT1_ENST00000344338.3_Missense_Mutation_p.V169L|DMBT1_ENST00000368955.3_Missense_Mutation_p.V169L|DMBT1_ENST00000330163.4_Missense_Mutation_p.V169L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	169	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTGGATGATGTGCGCTGCTC	0.587000													135	90					9.89263e-63	1.79704e-62	0.003610	1	0
NSUN3	63899	broad.mit.edu	37	3	93812983	93812983	+	Splice_Site	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:93812983G>T	ENST00000314622.4	+	4	677		c.e4-1			NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3								methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TTTTTATTTAGGTTATCTTCA	0.299000													5	11					0.00116845	0.00165749	0.001168	1	0
PKD1	5310	broad.mit.edu	37	16	2153733	2153733	+	Silent	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr16:2153733C>G	ENST00000262304.4	-	23	8533	c.8325G>C	c.(8323-8325)acG>acC	p.T2775T	PKD1_ENST00000423118.1_Silent_p.T2775T|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2775	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCCCGCCAGCGTCAGGGGCT	0.687000													25	15					0	0	0.003954	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53726277	53726277	+	Splice_Site	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr16:53726277C>A	ENST00000262135.4	-	4	324		c.e4-1		RPGRIP1L_ENST00000379925.3_Splice_Site|RPGRIP1L_ENST00000564374.1_Splice_Site|RPGRIP1L_ENST00000563746.1_Splice_Site	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like						negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGTGGCCATTCTGGGGAAATA	0.433000													15	92					4.7546e-09	7.32035e-09	0.004007	1	0
DSCC1	79075	broad.mit.edu	37	8	120854054	120854054	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:120854054T>C	ENST00000313655.4	-	7	1118	c.904A>G	c.(904-906)Act>Gct	p.T302A		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	302					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCAAGACTAGTTACCATTCCT	0.408000													17	11					0	0	0.001523	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102455115	102455115	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:102455115G>C	ENST00000360184.4	+	10	2958	c.2794G>C	c.(2794-2796)Gat>Cat	p.D932H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	932	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACAAGCTGAAGATAAAGCAGA	0.458000													4	53					0	0	0.000602	0	0
EXOC8	149371	broad.mit.edu	37	1	231472318	231472318	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:231472318C>G	ENST00000366645.1	-	1	1280	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	EXOC8_ENST00000360394.2_Missense_Mutation_p.E392Q			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	392					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				ACTAGCACCTCAGTGAGCTGT	0.532000													5	85					0	0	0.000602	0	0
THAP6	152815	broad.mit.edu	37	4	76442022	76442022	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr4:76442022G>A	ENST00000311638.3	+	3	189	c.121G>A	c.(121-123)Gca>Aca	p.A41T	THAP6_ENST00000504190.1_5'UTR|THAP6_ENST00000508105.1_5'UTR|THAP6_ENST00000507557.1_5'UTR|THAP6_ENST00000380837.3_Missense_Mutation_p.A41T|THAP6_ENST00000514480.1_Missense_Mutation_p.A41T|THAP6_ENST00000502620.1_5'UTR|THAP6_ENST00000507556.1_Missense_Mutation_p.A41T|THAP6_ENST00000507885.1_5'UTR	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	41						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATGGGTATTAGCAATGAAAAG	0.323000													25	27					0	0	0.004656	0	0
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:29761676C>G	ENST00000457107.1	+	0	902																											gagagggtttcatattcaaga	0.493000													4	23					0	0	0.001168	0	0
STARD6	147323	broad.mit.edu	37	18	51863546	51863546	+	Silent	SNP	A	A	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr18:51863546A>G	ENST00000581310.1	-	6	589	c.216T>C	c.(214-216)atT>atC	p.I72I	STARD6_ENST00000307844.3_Silent_p.I72I|STARD6_ENST00000580990.2_5'UTR			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	72	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TATCCCATGTAATTCTGTCTC	0.313000													20	25					0	0	0.007413	0	0
CLCN5	1184	broad.mit.edu	37	X	49853484	49853484	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrX:49853484G>A	ENST00000376088.3	+	12	2328	c.1687G>A	c.(1687-1689)Gga>Aga	p.G563R	CLCN5_ENST00000376091.3_Missense_Mutation_p.G563R|CLCN5_ENST00000376108.3_Missense_Mutation_p.G493R|CLCN5_ENST00000307367.2_Missense_Mutation_p.G493R	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	493					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTGTAGTCAGGGAGCTGATTG	0.507000													9	71					0	0	0.004482	0	0
DNAH17	8632	broad.mit.edu	37	17	76471465	76471465	+	Silent	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:76471465C>A	ENST00000389840.5	-	54	8488	c.8364G>T	c.(8362-8364)gtG>gtT	p.V2788V	DNAH17_ENST00000585328.1_Silent_p.V2797V|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACTGCCGCCCACCCCCACCA	0.622000													15	63					4.7546e-09	7.32035e-09	0.004007	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480363	140480363	+	Silent	SNP	T	T	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:140480363T>C	ENST00000231130.2	+	1	130	c.130T>C	c.(130-132)Tta>Cta	p.L44L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		44	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGGGCTTTTTAATAGCCAA	0.502000													21	92					0	0	0.008871	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17362963	17362963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:17362963G>A	ENST00000377602.4	-	8	1185	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	371					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTGGGCATCTGATGGAAACCA	0.403000													107	104					0	0	0.003610	0	0
OR5D14	219436	broad.mit.edu	37	11	55563503	55563503	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:55563503C>A	ENST00000335605.1	+	1	472	c.472C>A	c.(472-474)Ccc>Acc	p.P158T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CATGTTTGGCCCCTTGGTACT	0.493000													78	54					4.00405e-42	7.04545e-42	0.003610	1	0
PCDH15	65217	broad.mit.edu	37	10	55955638	55955638	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:55955638G>T	ENST00000373965.2	-	11	1504	c.1110C>A	c.(1108-1110)gaC>gaA	p.D370E	PCDH15_ENST00000395440.1_Missense_Mutation_p.D370E|PCDH15_ENST00000395432.2_Missense_Mutation_p.D333E|PCDH15_ENST00000361849.3_Missense_Mutation_p.D370E|PCDH15_ENST00000373957.3_Missense_Mutation_p.D348E|PCDH15_ENST00000395433.1_Missense_Mutation_p.D348E|PCDH15_ENST00000373955.1_Missense_Mutation_p.D370E|PCDH15_ENST00000395446.1_Missense_Mutation_p.D370E|PCDH15_ENST00000437009.1_Missense_Mutation_p.D370E|PCDH15_ENST00000395430.1_Missense_Mutation_p.D370E|PCDH15_ENST00000414778.1_Missense_Mutation_p.D375E|PCDH15_ENST00000395445.1_Missense_Mutation_p.D370E|PCDH15_ENST00000320301.6_Missense_Mutation_p.D370E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395438.1_Missense_Mutation_p.D370E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	370	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATGACCATTGTCTTGTTCAG	0.343000										HNSCC(58;0.16)			30	13					6.04164e-23	1.02728e-22	0.002096	1	0
RBM34	23029	broad.mit.edu	37	1	235324510	235324510	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:235324510C>G	ENST00000408888.3	-	1	262	c.32G>C	c.(31-33)aGa>aCa	p.R11T	RBM34_ENST00000366606.3_Missense_Mutation_p.R6T			P42696	RBM34_HUMAN	RNA binding motif protein 34	11						nucleolus	nucleotide binding|RNA binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ACTTCTCTTTCTCTTCCGTTT	0.622000													34	184					0	0	0.006999	0	0
TRANK1	9881	broad.mit.edu	37	3	36874921	36874921	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:36874921G>C	ENST00000429976.2	-	21	6268	c.6021C>G	c.(6019-6021)ttC>ttG	p.F2007L	TRANK1_ENST00000428977.2_Missense_Mutation_p.F1457L|TRANK1_ENST00000301807.6_Missense_Mutation_p.F1457L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2007					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						TGTCAAACTTGAAGAAGGCAT	0.547000													3	29					0	0	0.004672	0	0
MDC1	9656	broad.mit.edu	37	6	30672754	30672754	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:30672754C>T	ENST00000376406.3	-	10	4853	c.4206G>A	c.(4204-4206)aaG>aaA	p.K1402K	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.K1138K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1402	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TTTCAGGGGTCTTGCCAGAGG	0.587000								Other conserved DNA damage response genes					41	131					0	0	0.007835	0	0
OR11H1	81061	broad.mit.edu	37	22	16449094	16449094	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr22:16449094C>T	ENST00000252835.4	-	1	711	c.711G>A	c.(709-711)ctG>ctA	p.L237L		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		ACATAGCTTTCAGGACAAGAG	0.423000													6	165					0	0	0.001984	0	0
ARID4B	51742	broad.mit.edu	37	1	235416105	235416105	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:235416105C>G	ENST00000264183.3	-	6	791	c.294G>C	c.(292-294)gaG>gaC	p.E98D	ARID4B_ENST00000349213.3_Missense_Mutation_p.E98D|ARID4B_ENST00000366603.2_Missense_Mutation_p.E98D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCAGTGTCTTCTCATCTCCGT	0.358000													7	123					0	0	0.000978	0	0
PANX1	24145	broad.mit.edu	37	11	93862636	93862636	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:93862636C>T	ENST00000227638.3	+	1	543	c.158C>T	c.(157-159)gCc>gTc	p.A53V	PANX1_ENST00000436171.2_Missense_Mutation_p.A53V	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	53					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCTCGCTGGCCTTCGCGCAG	0.662000													4	28					0	0	0.000248	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33956887	33956887	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:33956887C>G	ENST00000361328.3	+	6	1182	c.1029C>G	c.(1027-1029)ttC>ttG	p.F343L	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.F289L	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	343					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)				AATCTCCTTTCTCTGAAAAGC	0.522000													17	130					0	0	0.004990	0	0
TRPC6	7225	broad.mit.edu	37	11	101341974	101341974	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:101341974C>A	ENST00000344327.3	-	9	2773	c.2349G>T	c.(2347-2349)tgG>tgT	p.W783C	TRPC6_ENST00000532133.1_Missense_Mutation_p.W705C|TRPC6_ENST00000360497.4_Missense_Mutation_p.W728C|TRPC6_ENST00000348423.4_Missense_Mutation_p.W667C	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	783					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCTCAGAAATCCATTTTTTAA	0.398000													58	58					8.33888e-18	1.3717e-17	0.003610	1	0
CUX1	1523	broad.mit.edu	37	7	101747651	101747651	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:101747651G>A	ENST00000360264.3	+	6	495	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	CUX1_ENST00000437600.4_Missense_Mutation_p.E159K|CUX1_ENST00000425244.2_Missense_Mutation_p.E113K|CUX1_ENST00000556210.1_Missense_Mutation_p.E148K|CUX1_ENST00000547394.2_Missense_Mutation_p.E143K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.E148K|CUX1_ENST00000550008.2_Missense_Mutation_p.E148K|CUX1_ENST00000549414.2_Missense_Mutation_p.E148K|CUX1_ENST00000292538.4_Missense_Mutation_p.E159K|CUX1_ENST00000292535.7_Missense_Mutation_p.E148K|CUX1_ENST00000393824.3_Missense_Mutation_p.E122K	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	148					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAAAATCCGAGAATATGAACA	0.388000													19	135					0	0	0.007413	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045759	26045759	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:26045759C>T	ENST00000540144.1	+	1	121	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	41					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.R41C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GAAACCTCATCGCTACCGCCC	0.642000													12	77					0	0	0.000978	0	0
RYR2	6262	broad.mit.edu	37	1	237947744	237947744	+	Silent	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:237947744C>A	ENST00000366574.2	+	90	13049	c.12732C>A	c.(12730-12732)gcC>gcA	p.A4244A	RYR2_ENST00000542537.1_Silent_p.A4228A|RYR2_ENST00000360064.6_Silent_p.A4250A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4244					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGGTCGGCCCTGTTTGCGC	0.502000													28	16					4.7796e-09	7.33647e-09	0.004656	1	0
ABHD2	11057	broad.mit.edu	37	15	89719165	89719165	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr15:89719165C>A	ENST00000352732.5	+	6	1181	c.661C>A	c.(661-663)Cag>Aag	p.Q221K	ABHD2_ENST00000565973.1_Missense_Mutation_p.Q221K|ABHD2_ENST00000355100.3_Missense_Mutation_p.Q221K	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	221						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GGGGGAGACTCAGGCAAACCA	0.552000													41	62					6.4771e-29	1.12403e-28	0.002522	1	0
CPA1	1357	broad.mit.edu	37	7	130021969	130021969	+	Silent	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:130021969G>T	ENST00000011292.3	+	4	552	c.402G>T	c.(400-402)ctG>ctT	p.L134L	CPA1_ENST00000484324.1_Silent_p.L46L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	134					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TCCTGGACCTGCTGGTGGCGG	0.542000											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	42					1.5548e-18	2.58281e-18	0.005443	1	0
PDE1C	5137	broad.mit.edu	37	7	31917635	31917635	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:31917635G>A	ENST00000396184.3	-	6	644	c.440C>T	c.(439-441)aCa>aTa	p.T147I	PDE1C_ENST00000321453.7_Missense_Mutation_p.T147I|PDE1C_ENST00000396182.2_Missense_Mutation_p.T147I|PDE1C_ENST00000396193.1_Missense_Mutation_p.T207I|PDE1C_ENST00000396191.1_Missense_Mutation_p.T147I	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	147					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CATGTTTGATGTCCGTCTATA	0.343000													20	25					0	0	0.002299	0	0
WISP2	8839	broad.mit.edu	37	20	43353466	43353466	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr20:43353466G>A	ENST00000372868.2	+	4	708	c.365G>A	c.(364-366)cGc>cAc	p.R122H	WISP2_ENST00000190983.4_Missense_Mutation_p.R122H|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	122	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ATCCGCTGCCGCTGCGAGGAC	0.687000													8	5					0	0	0.004482	0	0
SLC8A3	6547	broad.mit.edu	37	14	70512864	70512864	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:70512864C>T	ENST00000381269.2	-	8	3337	c.2584G>A	c.(2584-2586)Gcc>Acc	p.A862T	SLC8A3_ENST00000534137.1_Missense_Mutation_p.A859T|SLC8A3_ENST00000216568.7_Missense_Mutation_p.A233T|SLC8A3_ENST00000394330.2_Missense_Mutation_p.A219T|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A860T|SLC8A3_ENST00000528359.1_Missense_Mutation_p.A860T|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A856T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	862					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACGGAGAAGGCCAGTGTGCCG	0.647000											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	23					0	0	0.008871	0	0
GALNT2	2590	broad.mit.edu	37	1	230381813	230381813	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:230381813G>A	ENST00000366672.4	+	8	806	c.734G>A	c.(733-735)aGg>aAg	p.R245K	GALNT2_ENST00000543760.1_Missense_Mutation_p.R207K|GALNT2_ENST00000541865.1_Missense_Mutation_p.R155K	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	245			R -> H (in dbSNP:rs1923950).		immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TTTTAGGACAGGACTCGGGTT	0.463000													11	143					0	0	0.001368	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413076	105413076	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:105413076G>C	ENST00000333244.5	-	7	8831	c.8712C>G	c.(8710-8712)ttC>ttG	p.F2904L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2904						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGCATCTTGAAACTGGGCA	0.647000													8	296					0	0	0.006214	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825926	146825926	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:146825926G>T	ENST00000361727.3	+	7	1597	c.1081G>T	c.(1081-1083)Gtg>Ttg	p.V361L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	361	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCCCTCAAATGTGGTAAGGAT	0.343000										HNSCC(39;0.1)			58	72					2.34445e-45	4.18356e-45	0.003610	1	0
LECT2	3950	broad.mit.edu	37	5	135288629	135288629	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:135288629C>T	ENST00000512872.1	-	0	198				LECT2_ENST00000274507.1_Missense_Mutation_p.C25Y|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis|skeletal system development	cytoplasm|extracellular space		p.C25Y(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGCCAGCACATATATTAGC	0.517000													6	79					0	0	0.001984	0	0
PYGM	5837	broad.mit.edu	37	11	64519513	64519513	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:64519513C>T	ENST00000164139.3	-	14	2049	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	PYGM_ENST00000377432.3_Missense_Mutation_p.E463K	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	551					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TATTCCCTCTCTAGGTAGGCA	0.512000													17	104					0	0	0.006122	0	0
CDC7	8317	broad.mit.edu	37	1	91973869	91973869	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:91973869G>A	ENST00000428239.1	+	4	509	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	CDC7_ENST00000234626.6_Missense_Mutation_p.E84K|CDC7_ENST00000430031.2_Missense_Mutation_p.E56K|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	84	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AGTAGGACCTGAAGAGAAAAT	0.353000													7	8					0	0	0.006214	0	0
ICA1	3382	broad.mit.edu	37	7	8198169	8198169	+	Silent	SNP	T	T	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:8198169T>A	ENST00000402384.3	-	7	959	c.693A>T	c.(691-693)ctA>ctT	p.L231L	ICA1_ENST00000407906.1_Silent_p.L231L|ICA1_ENST00000265577.7_Silent_p.L230L|ICA1_ENST00000422063.2_Silent_p.L231L|ICA1_ENST00000396675.3_Silent_p.L231L|ICA1_ENST00000406470.2_Silent_p.L231L|ICA1_ENST00000401396.1_Silent_p.L219L			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	231	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GGTATGTTGCTAGCATGTGAG	0.368000													25	41					0	0	0.005443	0	0
POLQ	10721	broad.mit.edu	37	3	121258347	121258347	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:121258347G>A	ENST00000264233.5	-	4	692	c.564C>T	c.(562-564)gtC>gtT	p.V188V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	188	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)		CAATTGTGCAGACTGCAATAT	0.383000								DNA polymerases (catalytic subunits)					10	69					0	0	0.008291	0	0
PCDH19	57526	broad.mit.edu	37	X	99551623	99551623	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrX:99551623C>T	ENST00000373034.4	-	6	4774	c.3099G>A	c.(3097-3099)ctG>ctA	p.L1033L	PCDH19_ENST00000420881.2_Silent_p.L985L|PCDH19_ENST00000255531.7_Silent_p.L986L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1033					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCTTGCCTTTCAGGGTAGGCC	0.582000													15	19					0	0	0.004007	0	0
NFKBID	84807	broad.mit.edu	37	19	36381384	36381384	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:36381384C>A	ENST00000396901.1	-	10	1188	c.615G>T	c.(613-615)aaG>aaT	p.K205N	NFKBID_ENST00000340950.2_Missense_Mutation_p.K42N|NFKBID_ENST00000606253.1_Missense_Mutation_p.K205N|NFKBID_ENST00000352614.2_Missense_Mutation_p.K357N	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	205					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TCTTGTTGCTCTTGATCTCCT	0.597000													47	49					2.46787e-29	4.2975e-29	0.003610	1	0
PGBD2	267002	broad.mit.edu	37	1	249211644	249211644	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:249211644G>A	ENST00000355360.4	+	3	378	c.108G>A	c.(106-108)ggG>ggA	p.G36G	PGBD2_ENST00000329291.5_Silent_p.G287G|PGBD2_ENST00000539153.1_Silent_p.G284G	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	287										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCACAGGGGGAAGCCTGTGC	0.547000													21	184					0	0	0.001523	0	0
KBTBD6	89890	broad.mit.edu	37	13	41704721	41704721	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr13:41704721C>G	ENST00000379485.1	-	1	2161	c.1927G>C	c.(1927-1929)Gaa>Caa	p.E643Q	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E577Q	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	643							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AAGTCCCATTCAGTGCTAGAC	0.448000													5	30					0	0	0.000602	0	0
SENP3	26168	broad.mit.edu	37	17	7468082	7468082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:7468082C>T	ENST00000321337.7	+	3	1176	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000429205.2_Nonsense_Mutation_p.Q286*|SENP3_ENST00000578868.1_3'UTR	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	286					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GGAGCTTTTTCAGGGCTCAGA	0.617000													7	38					0	0	0.003080	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559035	140559035	+	Missense_Mutation	SNP	G	G	A	rs149925643		TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:140559035G>A	ENST00000239444.2	+	1	1665	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V474I(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCGGCAGCGTCAGCGCCAC	0.662000													35	165					0	0	0.005524	0	0
C10orf137	26098	broad.mit.edu	37	10	127414386	127414386	+	Silent	SNP	A	A	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:127414386A>G	ENST00000337623.3	+	6	876	c.771A>G	c.(769-771)gaA>gaG	p.E257E	C10orf137_ENST00000356792.4_Silent_p.E257E	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGTTTCTGAAGATCCCAGTG	0.413000													33	41					0	0	0.003755	0	0
MTUS2	23281	broad.mit.edu	37	13	29599154	29599154	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr13:29599154G>A	ENST00000431530.3	+	1	407	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	107						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATTCAGAGGGAACTCAATGA	0.493000													8	51					0	0	0.004482	0	0
VTI1B	10490	broad.mit.edu	37	14	68123177	68123177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:68123177C>G	ENST00000554659.1	-	4	837	c.496G>C	c.(496-498)Gag>Cag	p.E166Q		NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	166					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TCCCCCAGCTCTTCTATGATT	0.522000													4	152					0	0	0.001168	0	0
MEI1	150365	broad.mit.edu	37	22	42139103	42139103	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr22:42139103C>G	ENST00000401548.3	+	12	1391	c.1351C>G	c.(1351-1353)Cca>Gca	p.P451A	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.P191A	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	451							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCAGAGCACTCCACCTGTGCA	0.542000													6	9					0	0	0.003080	0	0
PPM1L	151742	broad.mit.edu	37	3	160679533	160679533	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:160679533G>A	ENST00000498165.1	+	2	510	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PPM1L_ENST00000497343.1_Missense_Mutation_p.E137K|PPM1L_ENST00000464260.1_5'UTR|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.E10K	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	137	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GACTGCAGCTGAATATGTAAA	0.408000													7	28					0	0	0.003080	0	0
WNK1	65125	broad.mit.edu	37	12	994563	994563	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:994563G>A	ENST00000537687.1	+	19	6016	c.5373G>A	c.(5371-5373)aaG>aaA	p.K1791K	WNK1_ENST00000530271.2_Silent_p.K2029K|WNK1_ENST00000340908.4_Silent_p.K1124K|WNK1_ENST00000315939.6_Silent_p.K1531K|WNK1_ENST00000535572.1_Silent_p.K1284K	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1531					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CACTAGATAAGACATCTCATA	0.478000													7	423					0	0	0.001984	0	0
FCGBP	8857	broad.mit.edu	37	19	40433630	40433630	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:40433630C>A	ENST00000221347.6	-	2	646	c.639G>T	c.(637-639)aaG>aaT	p.K213N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	213	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TAGCTGTGACCTTTGACCCCG	0.557000													35	47					1.42033e-22	2.39089e-22	0.004289	1	0
CCAR1	55749	broad.mit.edu	37	10	70548067	70548067	+	Silent	SNP	T	T	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:70548067T>C	ENST00000265872.6	+	23	3288	c.3169T>C	c.(3169-3171)Tta>Cta	p.L1057L	CCAR1_ENST00000535016.1_Silent_p.L1042L|CCAR1_ENST00000543719.1_Silent_p.L1042L	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1057					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GAAGCTGCAGTTACTAGAAGA	0.388000													3	58					0	0	0.000248	0	0
WFDC10B	280664	broad.mit.edu	37	20	44313526	44313526	+	Silent	SNP	T	T	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr20:44313526T>C	ENST00000330523.5	-	4	395	c.165A>G	c.(163-165)gaA>gaG	p.E55E	WFDC10B_ENST00000335769.2_Silent_p.E71E	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	55	WAP.					extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TCTTATTTGTTTCACACTTTT	0.468000													12	140					0	0	0.003163	0	0
COPS3	8533	broad.mit.edu	37	17	17171207	17171207	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:17171207G>C	ENST00000539941.2	-	5	581	c.373C>G	c.(373-375)Ctc>Gtc	p.L125V	COPS3_ENST00000439936.2_Missense_Mutation_p.L125V|COPS3_ENST00000268717.5_Missense_Mutation_p.L145V	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	145					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ACCTGGCAGAGATCAGCATGT	0.453000													29	34					0	0	0.008361	0	0
DNAH10	196385	broad.mit.edu	37	12	124379262	124379262	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:124379262C>A	ENST00000409039.3	+	53	8943	c.8918C>A	c.(8917-8919)tCc>tAc	p.S2973Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2973	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTCGCAAAGTCCTTTCTAGGT	0.398000													10	12					0.00010058	0.000144709	0.001368	1	0
CSMD1	64478	broad.mit.edu	37	8	3047486	3047486	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:3047486C>G	ENST00000520002.1	-	35	5904	c.5349G>C	c.(5347-5349)caG>caC	p.Q1783H	CSMD1_ENST00000602723.1_Missense_Mutation_p.Q1783H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q1783H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q1783H|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q1782H|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q1782H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q1782H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1783	Sushi 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGGCACGGACTGGCAGTGGA	0.612000													9	4					0	0	0.000978	0	0
MTFR1L	56181	broad.mit.edu	37	1	26153313	26153313	+	Silent	SNP	T	T	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:26153313T>C	ENST00000466284.1	+	4	2029	c.447T>C	c.(445-447)gaT>gaC	p.D149D	MTFR1L_ENST00000374307.5_Silent_p.D149D|MTFR1L_ENST00000374303.2_Silent_p.D149D|MTFR1L_ENST00000526894.1_Silent_p.D149D|MTFR1L_ENST00000374301.3_Silent_p.D149D|MTFR1L_ENST00000524618.1_Silent_p.D52D|MTFR1L_ENST00000469815.1_Intron|MTFR1L_ENST00000474295.1_Silent_p.D149D|MTFR1L_ENST00000374300.3_Silent_p.D149D					mitochondrial fission regulator 1-like																		TGGCAGCTGATGCAGGTAGGA	0.572000													8	16					0	0	0.003080	0	0
ACO1	48	broad.mit.edu	37	9	32421015	32421015	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:32421015G>A	ENST00000379923.1	+	9	1166	c.960G>A	c.(958-960)ctG>ctA	p.L320L	ACO1_ENST00000541043.1_Silent_p.L221L|ACO1_ENST00000309951.5_Silent_p.L320L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	320					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCACGTACCTGGTGCAAACAG	0.478000													21	180					0	0	0.001882	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706278	33706278	+	Silent	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr18:33706278C>A	ENST00000269187.5	-	2	906	c.693G>T	c.(691-693)cgG>cgT	p.R231R	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Silent_p.R231R	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	231						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GCCGGCTCACCCGGCTCTTTG	0.468000													58	66					5.73376e-24	9.81542e-24	0.003610	1	0
OBP2A	29991	broad.mit.edu	37	9	138439091	138439091	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:138439091G>A	ENST00000539850.1	+	3	300	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	OBP2A_ENST00000340780.3_Missense_Mutation_p.A92T|OBP2A_ENST00000371776.1_Missense_Mutation_p.A92T|OBP2A_ENST00000342114.4_Missense_Mutation_p.R47H			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	92					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CAAATTCAGCGCCTGTGAGCC	0.642000													24	28					0	0	0.003954	0	0
BAGE2	85319	broad.mit.edu	37	21	11039151	11039151	+	RNA	SNP	C	C	G	rs71292113		TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr21:11039151C>G	ENST00000470054.1	-	0	1052									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGCTTTCCTCATGTGGGGAC	0.398000													12	160					0	0	0.000978	0	0
PCDH20	64881	broad.mit.edu	37	13	61986420	61986420	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr13:61986420C>G	ENST00000409186.1	-	5	3917	c.1812G>C	c.(1810-1812)aaG>aaC	p.K604N	PCDH20_ENST00000409204.4_Missense_Mutation_p.K604N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	577	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTATCTGTACTTTTCTTTCT	0.453000													34	30					0	0	0.003755	0	0
ZZEF1	23140	broad.mit.edu	37	17	3917482	3917482	+	Splice_Site	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:3917482C>A	ENST00000381638.2	-	51	8439	c.8314_splice	c.e51-1	p.G2772_splice		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2772							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAGAGTGTCTCCTAGGCACAC	0.547000													7	18					0.00307968	0.00433214	0.003080	1	0
MDFIC	29969	broad.mit.edu	37	7	114582368	114582368	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:114582368C>G	ENST00000257724.3	+	3	723	c.460C>G	c.(460-462)Caa>Gaa	p.Q154E	MDFIC_ENST00000393486.1_Missense_Mutation_p.Q45E			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	45					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						AGATATAACTCAAGCTACCAA	0.308000													7	25					0	0	0.001984	0	0
CD300LG	146894	broad.mit.edu	37	17	41939258	41939258	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:41939258C>T	ENST00000317310.4	+	7	1019	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	326						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCTGGGCTTCTCGAAGTTTG	0.602000													11	8					0	0	0.001855	0	0
MROH7	374977	broad.mit.edu	37	1	55145070	55145070	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:55145070C>T	ENST00000414150.2	+	12	2462	c.2184C>T	c.(2182-2184)ctC>ctT	p.L728L	MROH7_ENST00000339553.5_Silent_p.L728L|MROH7_ENST00000454855.2_Silent_p.L246L|MROH7_ENST00000545244.1_Silent_p.L296L|MROH7_ENST00000395690.2_Silent_p.L728L|MROH7_ENST00000421030.2_Silent_p.L728L|MROH7_ENST00000409996.1_Silent_p.L296L					maestro heat-like repeat family member 7																		AGGTCATGCTCAGCTCGGTGC	0.662000													7	74					0	0	0.003080	0	0
AP5Z1	9907	broad.mit.edu	37	7	4828518	4828518	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:4828518G>A	ENST00000348624.4	+	13	1737	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H	AP5Z1_ENST00000401897.1_Missense_Mutation_p.R548H	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	548					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	p.R392H(1)|p.R1259H(1)									GGCTGTGCCCGCGTGGCCCAG	0.697000													5	27					0	0	0.001168	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606680	84606680	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:84606680G>T	ENST00000344803.2	+	4	1342	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AAAGAAAATGGAAAGAAACCA	0.408000													19	24					3.51602e-12	5.53143e-12	0.008871	1	0
CATSPER2	117155	broad.mit.edu	37	15	43940128	43940128	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr15:43940128G>C	ENST00000396879.1	-	3	244	c.132C>G	c.(130-132)atC>atG	p.I44M	CATSPER2_ENST00000464721.1_Intron|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.I44M|CATSPER2_ENST00000354127.4_Missense_Mutation_p.I44M|CATSPER2_ENST00000381761.1_Missense_Mutation_p.I50M|CATSPER2_ENST00000321596.5_Missense_Mutation_p.I44M			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	44					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAACTCCCTGATAGTGTGCC	0.453000													26	88					0	0	0.005443	0	0
BAI1	575	broad.mit.edu	37	8	143607977	143607977	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:143607977G>A	ENST00000517894.1	+	24	4281	c.3387G>A	c.(3385-3387)aaG>aaA	p.K1129K	BAI1_ENST00000323289.5_Silent_p.K1129K			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1129					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGAAGCTGAAGGAGCGGGCAG	0.642000													6	8					0	0	0.003080	0	0
SV2B	9899	broad.mit.edu	37	15	91835670	91835670	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr15:91835670C>T	ENST00000394232.1	+	13	2410	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F	SV2B_ENST00000545111.2_Missense_Mutation_p.S496F|SV2B_ENST00000330276.4_Missense_Mutation_p.S647F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	647					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATCTTTGCTTCTTTTGTTGGG	0.488000													33	42					0	0	0.003271	0	0
HEY2	23493	broad.mit.edu	37	6	126080669	126080669	+	Silent	SNP	C	C	T	rs144879330	byFrequency	TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:126080669C>T	ENST00000368364.3	+	5	932	c.735C>T	c.(733-735)agC>agT	p.S245S	HEY2_ENST00000368365.1_Silent_p.S199S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	245					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCACGGGCAGCGTCGCCCCCT	0.662000													7	165					0	0	0.004482	0	0
HLF	3131	broad.mit.edu	37	17	53398181	53398181	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:53398181G>A	ENST00000226067.5	+	4	1302	c.829G>A	c.(829-831)Gag>Aag	p.E277K	HLF_ENST00000573945.1_Missense_Mutation_p.E192K|HLF_ENST00000575307.1_3'UTR|HLF_ENST00000430986.2_Missense_Mutation_p.E192K|HLF_ENST00000575345.1_Missense_Mutation_p.E192K	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	277					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CTTGAGGAAGGAGCTGGGCAA	0.582000			T	TCF3	ALL								4	33					0	0	0.000248	0	0
AOC1	26	broad.mit.edu	37	7	150553968	150553968	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:150553968C>T	ENST00000493429.1	+	4	994	c.410C>T	c.(409-411)tCc>tTc	p.S137F	AOC1_ENST00000467291.1_Missense_Mutation_p.S137F|AOC1_ENST00000360937.4_Missense_Mutation_p.S137F|AOC1_ENST00000416793.2_Missense_Mutation_p.S137F					amine oxidase, copper containing 1									p.S137F(1)									TACCAGTCCTCCTGGGCATCG	0.617000													13	77					0	0	0.001855	0	0
ITGB4	3691	broad.mit.edu	37	17	73736482	73736482	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:73736482G>A	ENST00000200181.3	+	21	2677	c.2490G>A	c.(2488-2490)gaG>gaA	p.E830E	ITGB4_ENST00000450894.3_Silent_p.E830E|ITGB4_ENST00000579662.1_Silent_p.E830E|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.E830E|ITGB4_ENST00000449880.2_Silent_p.E830E	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	830					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTGCACCGAGAACCTGCTGA	0.647000													8	72					0	0	0.008291	0	0
HIVEP1	3096	broad.mit.edu	37	6	12136102	12136102	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:12136102A>T	ENST00000379388.2	+	7	6796	c.6464A>T	c.(6463-6465)gAt>gTt	p.D2155V	HIVEP1_ENST00000541134.1_Intron	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2155					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGTTTAATAGATGAACAGGAT	0.343000													26	67					0	0	0.003954	0	0
EDAR	10913	broad.mit.edu	37	2	109513632	109513632	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:109513632G>T	ENST00000409271.1	-	12	1617	c.1174C>A	c.(1174-1176)Ctc>Atc	p.L392I	EDAR_ENST00000258443.2_Missense_Mutation_p.L360I|EDAR_ENST00000376651.1_Missense_Mutation_p.L392I			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	360	Death.				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTGGAGCTGAGCATTCGGCTA	0.537000													11	24					1.58986e-06	2.33396e-06	0.008291	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558514	140558514	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:140558514G>A	ENST00000239444.2	+	1	1144	c.899G>A	c.(898-900)gGa>gAa	p.G300E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		300	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTTGACAGGAGAAATTCGA	0.408000													6	134					0	0	0.001168	0	0
MBIP	51562	broad.mit.edu	37	14	36785917	36785917	+	Silent	SNP	T	T	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:36785917T>C	ENST00000416007.4	-	2	318	c.231A>G	c.(229-231)caA>caG	p.Q77Q	MBIP_ENST00000359527.7_Silent_p.Q77Q|MBIP_ENST00000318473.7_Silent_p.Q77Q	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	77					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ATAAAATGTGTTGTTCAAGTG	0.363000													21	25					0	0	0.002780	0	0
TUBB8	347688	broad.mit.edu	37	10	93453	93453	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:93453C>T	ENST00000447903.2	-	4	978	c.663G>A	c.(661-663)atG>atA	p.M221I	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.M293I			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	293					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TAGCATCAAACATCTGCTGGG	0.617000													15	214					0	0	0.004007	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746052	77746052	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:77746052A>T	ENST00000409088.3	-	3	1357	c.943T>A	c.(943-945)Tgc>Agc	p.C315S	LRRTM4_ENST00000409884.1_Missense_Mutation_p.C315S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.C316S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.C315S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.C316S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	315	LRRCT.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTCCGACTGCATTCCCACATA	0.393000													6	6					0	0	0.001984	0	0
LRP6	4040	broad.mit.edu	37	12	12302005	12302005	+	Missense_Mutation	SNP	C	C	T	rs146852380		TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:12302005C>T	ENST00000261349.4	-	14	3153	c.3077G>A	c.(3076-3078)cGc>cAc	p.R1026H	LRP6_ENST00000543091.1_Missense_Mutation_p.R1026H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1026	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTAGATGTAGCGGCTGTAAAT	0.453000													79	138					0	0	0.003610	0	0
SFN	2810	broad.mit.edu	37	1	27189941	27189941	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:27189941G>C	ENST00000339276.4	+	1	309	c.238G>C	c.(238-240)Gag>Cag	p.E80Q		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	80					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GAAGGGGCCCGAGGTGCGTGA	0.642000													4	111					0	0	0.000248	0	0
MYH2	4620	broad.mit.edu	37	17	10451137	10451137	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:10451137G>T	ENST00000245503.5	-	3	485	c.101C>A	c.(100-102)gCc>gAc	p.A34D	MYH2_ENST00000397183.2_Missense_Mutation_p.A34D|MYH2_ENST00000532183.1_Missense_Mutation_p.A34D|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	34	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGATGTTTTGGCATCAAAGGG	0.507000													6	63					0.00116845	0.00165749	0.001168	1	0
ZNF536	9745	broad.mit.edu	37	19	30936464	30936464	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:30936464C>A	ENST00000355537.3	+	2	2142	c.1995C>A	c.(1993-1995)caC>caA	p.H665Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGGGCTGCACGTGGGCCTGG	0.692000													38	25					2.2871e-25	3.94192e-25	0.007835	1	0
HRNR	388697	broad.mit.edu	37	1	152193064	152193064	+	Silent	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:152193064G>T	ENST00000368801.2	-	3	1116	c.1041C>A	c.(1039-1041)ggC>ggA	p.G347G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	347					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGCCCAAAGCCAGAAGTCT	0.567000													108	77					1.54984e-59	2.78531e-59	0.003610	1	0
KIAA1755	85449	broad.mit.edu	37	20	36841846	36841846	+	Silent	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr20:36841846G>T	ENST00000279024.4	-	14	3472	c.3201C>A	c.(3199-3201)cgC>cgA	p.R1067R		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1067										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTCGTTCTGGGCGCGCTGAGT	0.632000													6	8					0.00116845	0.00165749	0.001168	1	0
BDP1	55814	broad.mit.edu	37	5	70806371	70806371	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:70806371G>C	ENST00000358731.4	+	17	3715	c.3452G>C	c.(3451-3453)aGa>aCa	p.R1151T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1151	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACTGGAAGAAGAGAAATATCC	0.473000													11	45					0	0	0.000978	0	0
GALNT5	11227	broad.mit.edu	37	2	158114729	158114729	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:158114729C>T	ENST00000259056.4	+	1	620	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	45					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCGGGTCATCAAGGAAGACA	0.468000													18	102					0	0	0.007413	0	0
MUC5B	727897	broad.mit.edu	37	11	1262528	1262528	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:1262528G>A	ENST00000447027.1	+	31	4485	c.4427G>A	c.(4426-4428)aGc>aAc	p.S1476N	MUC5B_ENST00000529681.1_Missense_Mutation_p.S1473N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1473	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGACCCCGAGCATCCGGTCG	0.692000													4	6					0	0	0.000248	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101576171	101576171	+	Silent	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:101576171C>A	ENST00000326172.5	+	11	2086	c.1971C>A	c.(1969-1971)gcC>gcA	p.A657A	NFKBIZ_ENST00000394054.2_Silent_p.A557A|NFKBIZ_ENST00000326151.5_Silent_p.A535A	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	657	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATGTTGCTGCCAGCTTGCAGT	0.478000													43	58					4.01765e-15	6.52384e-15	0.002222	1	0
LPO	4025	broad.mit.edu	37	17	56343594	56343594	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:56343594C>T	ENST00000262290.4	+	11	1916	c.1600C>T	c.(1600-1602)Ctg>Ttg	p.L534L	LPO_ENST00000543544.1_Silent_p.L475L|LPO_ENST00000421678.2_Silent_p.L451L|LPO_ENST00000582328.1_Silent_p.L451L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	534					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GACTGGAGAGCTGCGCAACAA	0.542000													6	42					0	0	0.001168	0	0
SCRIB	23513	broad.mit.edu	37	8	144890795	144890795	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr8:144890795G>A	ENST00000356994.2	-	15	2105	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F	SCRIB_ENST00000320476.3_Missense_Mutation_p.S700F|SCRIB_ENST00000377533.3_Missense_Mutation_p.S619F	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	700	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	p.S700F(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAGGGCGCAGAAACCACGGC	0.652000													11	25					0	0	0.001855	0	0
TRPV4	59341	broad.mit.edu	37	12	110236509	110236509	+	Silent	SNP	G	G	A	rs115446386	by1000genomes	TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:110236509G>A	ENST00000418703.2	-	5	1156	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	TRPV4_ENST00000541794.1_Silent_p.A307A|TRPV4_ENST00000537083.1_Silent_p.A354A|TRPV4_ENST00000536838.1_Silent_p.A320A|TRPV4_ENST00000544971.1_Silent_p.A307A|TRPV4_ENST00000392719.2_Silent_p.A307A|TRPV4_ENST00000346520.2_Silent_p.A354A|TRPV4_ENST00000261740.2_Silent_p.A354A	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	354					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GGAAGAGGCGGGCACACTTGA	0.592000													16	25					0	0	0.003163	0	0
PAGE5	90737	broad.mit.edu	37	X	55249155	55249155	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chrX:55249155G>C	ENST00000289619.5	+	4	597	c.352G>C	c.(352-354)Gat>Cat	p.D118H	PAGE5_ENST00000374952.1_Missense_Mutation_p.D81H|PAGE5_ENST00000374955.3_Missense_Mutation_p.D98H	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	118										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						GCCCACTTTTGATCCCACTAA	0.423000													55	8					0	0	0.003610	0	0
RSAD1	55316	broad.mit.edu	37	17	48560834	48560834	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:48560834G>A	ENST00000258955.2	+	6	1123	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	346					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTGTCCCCCTGGGCAGGCTGG	0.577000													11	10					0	0	0.001368	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805604	106805604	+	RNA	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:106805604G>T	ENST00000438142.2	-	0	112																											CTCACATCTGGGAGCTGCCAC	0.552000													24	82					5.45727e-16	8.91884e-16	0.008361	1	0
MICB	4277	broad.mit.edu	37	6	31477606	31477606	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:31477606G>A	ENST00000252229.6	+	6	1151	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	MICB_ENST00000399150.3_Missense_Mutation_p.D315N|MICB_ENST00000538442.1_Missense_Mutation_p.D326N	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	358					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TGGGACAGGAGACCACAGGGA	0.562000													14	93					0	0	0.002450	0	0
GRAP2	9402	broad.mit.edu	37	22	40356136	40356136	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr22:40356136G>T	ENST00000344138.4	+	4	511	c.248G>T	c.(247-249)cGg>cTg	p.R83L	GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000407075.3_Missense_Mutation_p.R83L|GRAP2_ENST00000544756.1_Missense_Mutation_p.R11L|GRAP2_ENST00000543252.1_Intron|GRAP2_ENST00000399090.2_Silent_p.P26P|GRAP2_ENST00000540310.1_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	83	SH2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TTCATCATCCGGGCCAGCCAG	0.552000													113	19					3.68091e-61	6.66258e-61	0.003610	1	0
SPATA6L	55064	broad.mit.edu	37	9	4661977	4661977	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:4661977G>A	ENST00000454239.2	-	3	344	c.99C>T	c.(97-99)ctC>ctT	p.L33L	SPATA6L_ENST00000381890.5_Silent_p.L33L|SPATA6L_ENST00000381895.5_5'UTR|SPATA6L_ENST00000475086.1_Silent_p.L33L|SPATA6L_ENST00000223517.5_5'UTR			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	33																	ACTGATTCATGAGGTAGACCC	0.443000											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	0.000248	0	0
TPX2	22974	broad.mit.edu	37	20	30359385	30359385	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr20:30359385G>C	ENST00000340513.4	+	7	1036	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	TPX2_ENST00000300403.6_Missense_Mutation_p.E170Q			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	170					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAGAAGCCAGAGGAAGAAGG	0.433000													4	41					0	0	0.000248	0	0
ASXL2	55252	broad.mit.edu	37	2	25965964	25965964	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:25965964G>A	ENST00000435504.4	-	13	3535	c.3242C>T	c.(3241-3243)tCa>tTa	p.S1081L	ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.S1053L|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.S1081L(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGCACAACTGAGAGAAGATT	0.502000													12	76					0	0	0.000978	0	0
BOD1L1	259282	broad.mit.edu	37	4	13600671	13600671	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr4:13600671G>C	ENST00000040738.5	-	10	7988	c.7853C>G	c.(7852-7854)tCt>tGt	p.S2618C		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2618							DNA binding										TTTCTCAGCAGATGCTTGATC	0.413000													12	104					0	0	0.000978	0	0
MYB	4602	broad.mit.edu	37	6	135509014	135509014	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:135509014G>A	ENST00000341911.5	+	3	383	c.184G>A	c.(184-186)Gac>Aac	p.D62N	MYB_ENST00000316528.8_Missense_Mutation_p.D62N|MYB_ENST00000525369.1_Missense_Mutation_p.D62N|MYB_ENST00000420123.2_Intron|MYB_ENST00000533624.1_Missense_Mutation_p.D62N|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Missense_Mutation_p.D62N|MYB_ENST00000534121.1_Missense_Mutation_p.D62N|MYB_ENST00000527615.1_Missense_Mutation_p.D62N|MYB_ENST00000534044.1_Missense_Mutation_p.D62N|MYB_ENST00000442647.2_Missense_Mutation_p.D62N|MYB_ENST00000367814.4_Missense_Mutation_p.D62N	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	62	HTH myb-type 1.				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TGGAACAGATGACTGGAAAGT	0.333000			T	NFIB	adenoid cystic carcinoma								8	15					0	0	0.006214	0	0
PDE6A	5145	broad.mit.edu	37	5	149314157	149314157	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:149314157C>A	ENST00000255266.5	-	2	718	c.599G>T	c.(598-600)gGa>gTa	p.G200V		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	200	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAAGTGGGATCCATCCACTTT	0.458000													37	51					3.33393e-15	5.43109e-15	0.004878	1	0
GPN3	51184	broad.mit.edu	37	12	110891576	110891576	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr12:110891576C>T	ENST00000543199.1	-	7	965	c.881G>A	c.(880-882)gGa>gAa	p.G294E	GPN3_ENST00000228827.3_Missense_Mutation_p.G255E|GPN3_ENST00000537466.2_Missense_Mutation_p.G265E	NM_001164372.1	NP_001157844.1	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3	255						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						TAGGTCTTCTCCATATTGAAT	0.358000													10	35					0	0	0.006214	0	0
DNM2	1785	broad.mit.edu	37	19	10906047	10906047	+	Splice_Site	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:10906047G>C	ENST00000314646.5	+	9	1292		c.e9-1		DNM2_ENST00000359692.6_Splice_Site|DNM2_ENST00000389253.4_Splice_Site|DNM2_ENST00000585892.1_Splice_Site|DNM2_ENST00000408974.4_Splice_Site|DNM2_ENST00000355667.6_Splice_Site			P50570	DYN2_HUMAN	dynamin 2						G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCTCTTCTCAGATGGAGTTTG	0.552000			"""F, N, Splice, Mis, O"""		ETP ALL								15	23					0	0	0.003163	0	0
PKHD1	5314	broad.mit.edu	37	6	51908484	51908484	+	Silent	SNP	G	G	C			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr6:51908484G>C	ENST00000371117.3	-	26	3035	c.2760C>G	c.(2758-2760)tcC>tcG	p.S920S	PKHD1_ENST00000340994.4_Silent_p.S920S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	920					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGAAAGAGCAGGAACCTGGGC	0.458000													3	23					0	0	0.000248	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489398	133489398	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:133489398G>T	ENST00000409261.1	-	17	5728	c.5355C>A	c.(5353-5355)agC>agA	p.S1785R	NCKAP5_ENST00000409213.1_Missense_Mutation_p.S466R|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1785R|NCKAP5_ENST00000405974.3_Missense_Mutation_p.S466R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1785							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAACAATGGCGCTATCTGCAG	0.567000													56	49					8.44121e-28	1.45987e-27	0.003610	1	0
LILRB1	10859	broad.mit.edu	37	19	55143594	55143594	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:55143594G>A	ENST00000396331.1	+	6	924	c.567G>A	c.(565-567)ccG>ccA	p.P189P	LILRB1_ENST00000396317.1_Silent_p.P189P|LILRB1_ENST00000396315.1_Silent_p.P189P|LILRB1_ENST00000448689.1_Silent_p.P189P|LILRB1_ENST00000418536.2_Silent_p.P189P|LILRB1_ENST00000396327.3_Silent_p.P189P|LILRB1_ENST00000396332.4_Silent_p.P189P|LILRB1_ENST00000434867.2_Silent_p.P189P|LILRB1_ENST00000324602.7_Silent_p.P189P|LILRB1_ENST00000427581.2_Silent_p.P225P|LILRB1_ENST00000396321.2_Silent_p.P189P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	189	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCGTGAGCCCGAGTCGCAGGT	0.587000										HNSCC(37;0.09)			69	13					0	0	0.003610	0	0
DIDO1	11083	broad.mit.edu	37	20	61512557	61512557	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr20:61512557C>T	ENST00000266070.4	-	16	5076	c.4751G>A	c.(4750-4752)cGt>cAt	p.R1584H	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1584H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1584					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGGGCACCACGTGCCGAGAG	0.706000													5	29					0	0	0.000602	0	0
METRNL	284207	broad.mit.edu	37	17	81052032	81052032	+	Silent	SNP	C	C	T	rs142053233		TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:81052032C>T	ENST00000571814.1	+	3	1343	c.402C>T	c.(400-402)caC>caT	p.H134H	METRNL_ENST00000570778.1_Silent_p.H134H|METRNL_ENST00000571940.1_3'UTR|METRNL_ENST00000320095.7_Silent_p.H216H			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	216						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AAGTTACCCACGAGCCTGAGC	0.632000													36	72					0	0	0.002522	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846028	72846028	+	Silent	SNP	G	G	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:72846028G>A	ENST00000293190.5	-	7	1682	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	GRIN2C_ENST00000347612.4_Silent_p.I512I	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	512					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTTCCTCATTGATGGTGAGGG	0.617000													10	76					0	0	0.000978	0	0
FCHO1	23149	broad.mit.edu	37	19	17885230	17885230	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:17885230C>A	ENST00000594202.1	+	13	1142	c.863C>A	c.(862-864)gCc>gAc	p.A288D	FCHO1_ENST00000600676.1_Missense_Mutation_p.A288D|FCHO1_ENST00000389133.4_Missense_Mutation_p.A288D|FCHO1_ENST00000597512.1_Missense_Mutation_p.A295D|FCHO1_ENST00000596951.1_Missense_Mutation_p.A288D|FCHO1_ENST00000595033.1_Missense_Mutation_p.A238D|FCHO1_ENST00000596536.1_Missense_Mutation_p.A288D|FCHO1_ENST00000539407.1_Missense_Mutation_p.A288D|FCHO1_ENST00000252771.7_Missense_Mutation_p.A288D	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	288										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGAGCCAAGGCCTTTCGCCTT	0.632000													27	36					3.00307e-07	4.50014e-07	0.008361	1	0
ZNF789	285989	broad.mit.edu	37	7	99084416	99084416	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr7:99084416C>T	ENST00000331410.5	+	5	853	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGAGCGAATTCTCACAAGAGC	0.413000													32	45					0	0	0.001786	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540649	169540649	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:169540649C>G	ENST00000340806.6	+	1	940	c.940C>G	c.(940-942)Cat>Gat	p.H314D		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	314										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAGCCAGAACCATCTGCACCA	0.567000													13	20					0	0	0.002450	0	0
NELL1	4745	broad.mit.edu	37	11	20907031	20907031	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr11:20907031C>T	ENST00000298925.5	+	6	785	c.632C>T	c.(631-633)cCc>cTc	p.P211L	NELL1_ENST00000325319.5_Missense_Mutation_p.P126L|NELL1_ENST00000532434.1_Missense_Mutation_p.P183L|NELL1_ENST00000357134.5_Missense_Mutation_p.P183L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	183	TSP N-terminal.		F -> V (in dbSNP:rs35809043).		cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACCAACCTTCCCCCAGGAATC	0.418000													8	27					0	0	0.003080	0	0
CDK10	8558	broad.mit.edu	37	16	89762019	89762019	+	Silent	SNP	C	C	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr16:89762019C>T	ENST00000331006.8	+	12	2602	c.861C>T	c.(859-861)ctC>ctT	p.L287L	CDK10_ENST00000505473.1_Intron|CDK10_ENST00000353379.7_Silent_p.L334L			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	334	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		AGCCGGAGCTCATGCCGACCT	0.682000													3	8					0	0	0.004672	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													7	11	---	---	---	---					
TPR	7175	broad.mit.edu	37	1	186313522	186313525	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr1:186313522_186313525delTCTT	ENST00000367478.3	-	25	3695_3698	c.3399_3402delAAGA	c.(3397-3402)gafs	p.ER1135fs		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1135					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACATTCTCTCTCTTTCCTCCCAAG	0.353			T	NTRK1	papillary thyroid								32	261	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163361086	163361104	+	Frame_Shift_Del	DEL	ATCTTGTTAATGGTGCTGT	ATCTTGTTAATGGTGCTGT	-			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:163361086_163361104delATCTTGTTAATGGTGCTGT	ENST00000332142.5	-	6	1076_1094	c.977_995delACAGCACCATTAACAAGAT	c.(976-996)ttfs	p.YSTINKI326fs	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Frame_Shift_Del_p.YSTINKI319fs	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	326					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GAGCTGTGGAATCTTGTTAATGGTGCTGTATTTGTTGAG	0.356													17	34	---	---	---	---					
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	RNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs148912092	by1000genomes	TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.440													30	77	---	---	---	---					
OGG1	4968	broad.mit.edu	37	3	9798519	9798519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:9798519delC	ENST00000339511.5	+	6	1273	c.967delC	c.(967-969)ctfs	p.P324fs	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000344629.7_Intron|OGG1_ENST00000302003.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron	NM_016819.3	NP_058212.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	0					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ACCTAGGTGTCCTCCCTAGGT	0.577								Base excision repair (BER), DNA glycosylases					16	41	---	---	---	---					
TOP2B	7155	broad.mit.edu	37	3	25654107	25654107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr3:25654107delG	ENST00000435706.2	-	28	3871	c.3670delC	c.(3670-3672)agfs	p.Q1224fs	TOP2B_ENST00000264331.4_Frame_Shift_Del_p.Q1229fs|TOP2B_ENST00000540199.1_Frame_Shift_Del_p.Q81fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.Q81fs|TOP2B_ENST00000475717.1_5'UTR			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1229					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TCTTCCAACTGGAGTTTCTTC	0.403													17	148	---	---	---	---					
CNOT6L	246175	broad.mit.edu	37	4	78697452	78697453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr4:78697452_78697453insT	ENST00000504123.1	-	2	229_230	c.99_100insA	c.(97-102)aactcafs	p.NS33fs	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Frame_Shift_Ins_p.NS33fs			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	33					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCCCAGTGAGATTTTTTCCCAT	0.371													25	106	---	---	---	---					
CTD-2296D1.4	0	broad.mit.edu	37	5	7372624	7372626	+	RNA	DEL	CAT	CAT	-	rs138659941	by1000genomes	TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr5:7372624_7372626delCAT	ENST00000513219.1	-	0	202																											ccacctccaccatcaccaccacc	0.596													3	3	---	---	---	---					
ECM2	1842	broad.mit.edu	37	9	95272282	95272282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr9:95272282delC	ENST00000344604.5	-	6	1354	c.1205delG	c.(1204-1206)gafs	p.G402fs	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Frame_Shift_Del_p.G380fs	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	402					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CAAATTATTTCCATCCATATT	0.318													16	27	---	---	---	---					
MYO3A	53904	broad.mit.edu	37	10	26377188	26377189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:26377188_26377189insT	ENST00000265944.5	+	15	1582_1583	c.1416_1417insT	c.(1414-1419)gcttggfs	p.W473fs	MYO3A_ENST00000543632.1_Frame_Shift_Ins_p.W473fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	473	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGTAGAAGCCTTTGGCAATGC	0.317													17	51	---	---	---	---					
ZNF37BP	100129482	broad.mit.edu	37	10	43016411	43016412	+	RNA	INS	-	-	A	rs7092920	by1000genomes	TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr10:43016411_43016412insA	ENST00000473592.1	-	0	2787_2788																											CTTCTGATGCCAAATGAGGTCT	0.361													65	51	---	---	---	---					
INF2	64423	broad.mit.edu	37	14	105179550	105179550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr14:105179550delA	ENST00000392634.4	+	19	2894	c.2782delA	c.(2782-2784)agfs	p.K928fs	INF2_ENST00000330634.7_Frame_Shift_Del_p.K928fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	928	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCAGGAGAACAAGGACCGGAA	0.706													2	4	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)ggg>gg	p.GL1100del	ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del|ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1100					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													8	224	---	---	---	---					
ALOX12B	242	broad.mit.edu	37	17	7980316	7980316	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr17:7980316delG	ENST00000319144.4	-	9	1527	c.1267delC	c.(1267-1269)tcfs	p.L423fs	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	423	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACCTTGTAGAGGGGGTGGCAC	0.627										Multiple Myeloma(8;0.094)			8	13	---	---	---	---					
PPP5C	5536	broad.mit.edu	37	19	46850393	46850393	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr19:46850393delC	ENST00000012443.4	+	1	143	c.40delC	c.(40-42)ccfs	p.P15fs	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	15					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	p.R16fs*7(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GTGTGCTGAGCCCCCCCGGGA	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	1	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384616	31384617	+	Frame_Shift_Ins	INS	-	-	G	rs150851562	by1000genomes	TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr20:31384616_31384617insG	ENST00000328111.2	+	13	1639_1640	c.1318_1319insG	c.(1318-1320)gaafs	p.E440fs	DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.E378fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.E344fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.E432fs|DNMT3B_ENST00000375623.4_Splice_Site|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.E420fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	440	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTTGTGGCAGGAAAAACCCC	0.559													10	121	---	---	---	---					
CBR3-AS1	100506428	broad.mit.edu	37	21	37505167	37505167	+	RNA	DEL	T	T	-			TCGA-55-6972-01A-11D-1945-08	TCGA-55-6972-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	46693a2b-5105-4770-a9e1-031dfedeb694	32fe5a7b-6f0d-4245-86b9-35055cbd71f7	g.chr21:37505167delT	ENST00000413862.1	-	0	459				CBR3-AS1_ENST00000453159.1_RNA	NR_038892.1																						CGTGAGCAGGTGGTAAATATC	0.532													2	4	---	---	---	---					
