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
MCOLN3	55283	broad.mit.edu	37	1	85491700	85491700	+	Silent	SNP	A	A	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:85491700A>G	uc001dkp.3	-	8	1164	c.1017T>C	c.(1015-1017)aaT>aaC	p.N339N	MCOLN3_uc001dko.3_5'Flank|MCOLN3_uc001dkq.3_Silent_p.N283N|MCOLN3_uc001dkr.3_3'UTR|MCOLN3_uc001dks.4_Silent_p.N184N	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	339						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGTACCATCCATTGACAAATT	0.333000													12	24					0	0	0.093190	0	0
PRKCE	5581	broad.mit.edu	37	2	45879507	45879507	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr2:45879507G>C	uc002rut.3	+	0	465	c.268G>C	c.(268-270)Ggc>Cgc	p.G90R		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	90	C2.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			TGCCCCCATAGGCTACGACGA	0.622000													37	36					0	0	0.080422	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843435	40843435	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr17:40843435C>A	uc002iay.3	+	14	2466	c.2250C>A	c.(2248-2250)gaC>gaA	p.D750E	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	750	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTTTGTGGACCATCTGCCTG	0.582000													17	268					6.94344e-10	8.53291e-10	0.038395	1	0
ACAA1	30	broad.mit.edu	37	3	38178134	38178134	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr3:38178134C>G	uc003cht.3	-	1	421	c.214G>C	c.(214-216)Gtt>Ctt	p.V72L	ACAA1_uc003chu.3_Missense_Mutation_p.V72L|MYD88_uc011ayh.2_5'Flank|MYD88_uc011ayi.2_5'Flank|MYD88_uc003chx.3_5'Flank|MYD88_uc011ayj.2_5'Flank|MYD88_uc011ayk.2_5'Flank|MYD88_uc011ayl.2_5'Flank	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	72					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TCCTTGAGAACCGCGGTCATG	0.642000													24	47					0	0	0.099896	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061912	40061912	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr22:40061912T>G	uc003ayc.3	+	22	4005	c.4005T>G	c.(4003-4005)tgT>tgG	p.C1335W	CACNA1I_uc003ayd.3_Missense_Mutation_p.C1300W|CACNA1I_uc003aye.3_Missense_Mutation_p.C1250W|CACNA1I_uc003ayf.3_Missense_Mutation_p.C1215W	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1335					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCTACCACTGTCTGGGCGTGG	0.587000													70	121					0	0	0.139131	0	0
NR2E1	7101	broad.mit.edu	37	6	108499383	108499383	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr6:108499383T>G	uc003psg.3	+	4	1335	c.580T>G	c.(580-582)Ttc>Gtc	p.F194V		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	194	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CAGACTTCTCTTCATGAGCAT	0.527000													26	44					0	0	0.108266	0	0
NUP210	23225	broad.mit.edu	37	3	13415370	13415370	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr3:13415370G>A	uc003bxv.1	-	11	1518	c.1435C>T	c.(1435-1437)Cac>Tac	p.H479Y	NUP210_uc003bxx.3_Missense_Mutation_p.H151Y	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	479					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGCCACCGTGGGCCTGCGGA	0.592000													19	32					0	0	0.076483	0	0
AX747550	0	broad.mit.edu	37	5	115298230	115298230	+	Silent	SNP	T	T	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:115298230T>G	uc003krn.1	-	0	751	c.87A>C	c.(85-87)cgA>cgC	p.R29R	AQPEP_uc003kro.3_5'UTR|AQPEP_uc003krp.3_Non-coding_Transcript					Homo sapiens cDNA FLJ35126 fis, clone PLACE6008285.																		GGGGCAGGGGTCGCAGCACTG	0.652000													6	23					0	0	0.080935	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000													3	21					0	0	0.009096	0	0
TNFSF12-TNFSF13	407977	broad.mit.edu	37	17	7464141	7464141	+	Silent	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr17:7464141G>A	uc002ghi.1	+	10	1080	c.984G>A	c.(982-984)gtG>gtA	p.V328V	SENP3_uc002ghm.3_5'Flank|EIF4A1_uc002gho.2_5'Flank|TNFSF12-TNFSF13_uc002ghj.2_Intron|TNFSF12-TNFSF13_uc002ghk.2_Silent_p.V248V|TNFSF12-TNFSF13_uc021tpb.1_Silent_p.V203V|TNFSF12-TNFSF13_uc002ghl.2_Silent_p.V232V|TNFSF12-TNFSF13_uc010vua.1_Silent_p.V220V|TNFSF12-TNFSF13_uc010cmk.2_Silent_p.V221V	NM_172089	NP_742086	Q8IZK7	Q8IZK7_HUMAN	Homo sapiens TNFSF12-TNFSF13 readthrough (TNFSF12-TNFSF13), mRNA.	328					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				TGGGGTTTGTGAAACTGTGAT	0.473000											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	122	328					0	0	0.139131	0	0
HTATSF1	27336	broad.mit.edu	37	X	135594033	135594033	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chrX:135594033A>T	uc004ezw.3	+	9	2551	c.2129A>T	c.(2128-2130)gAg>gTg	p.E710V	HTATSF1_uc004ezx.3_Missense_Mutation_p.E710V	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	710	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTTGATGAGGAGGAAGATTCC	0.458000													13	3					0	0	0.105934	0	0
FOXO3	2309	broad.mit.edu	37	6	108985136	108985136	+	Missense_Mutation	SNP	C	C	T	rs34223850		TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr6:108985136C>T	uc003psk.2	+	2	1416	c.1100C>T	c.(1099-1101)cCa>cTa	p.P367L	FOXO3_uc003psm.2_Missense_Mutation_p.P367L|FOXO3_uc011ean.1_Missense_Mutation_p.P147L|FOXO3_uc010kdj.1_Missense_Mutation_p.P147L	NM_201559	NP_963853	O43524	FOXO3_HUMAN	Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA.	367				P -> R (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GTGGAACTGCCACGGCTGACT	0.567000													3	90					0	0	0.058154	0	0
KIF12	113220	broad.mit.edu	37	9	116859620	116859620	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr9:116859620A>T	uc004bif.3	-	3	431	c.193T>A	c.(193-195)Ttt>Att	p.F65I	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	198	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AGACTCCCAAATTCCACCACC	0.602000													28	50					0	0	0.125774	0	0
PTEN	5728	broad.mit.edu	37	10	89624275	89624275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr10:89624275C>T	uc001kfb.3	+	0	1081	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	17	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.Q17*(11)|p.Q17del(4)|p.Y16fs*28(3)|p.Y16fs*1(3)|p.Y16C(2)|p.Y16fs*21(2)|p.Y16*(2)|p.R14_D22del(2)|p.Q17P(1)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*27(1)|p.N12fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGGAGATATCAAGAGGATGG	0.478000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			5	178					0	0	0.021553	0	0
CES4A	283848	broad.mit.edu	37	16	67038037	67038037	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr16:67038037C>A	uc002eqv.3	+	8	1174	c.1059C>A	c.(1057-1059)gaC>gaA	p.D353E	CES4A_uc010vix.2_Missense_Mutation_p.D330E|CES4A_uc002eqw.3_Missense_Mutation_p.D330E|CES4A_uc010viy.2_Missense_Mutation_p.D236E|CES4A_uc002eqx.3_Missense_Mutation_p.D136E|CES4A_uc002eqy.3_Missense_Mutation_p.D232E	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	330						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TCCCAGATGACCCTTTGGTGC	0.512000													126	220					1.22182e-49	1.63982e-49	0.139131	1	0
HTT	3064	broad.mit.edu	37	4	3201562	3201562	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr4:3201562C>T	uc021xkv.1	+	40	5617	c.5472C>T	c.(5470-5472)tcC>tcT	p.S1824S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1824					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGGCTCGTTCCATGATCACCA	0.597000													9	207					0	0	0.058154	0	0
PPM1A	5494	broad.mit.edu	37	14	60749544	60749544	+	Silent	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr14:60749544G>T	uc001xew.4	+	1	438	c.342G>T	c.(340-342)acG>acT	p.T114T	PPM1A_uc010apn.3_Silent_p.T41T|PPM1A_uc001xex.4_Silent_p.T41T|PPM1A_uc001xey.4_Silent_p.T41T	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	41					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ATGCACATACGGCTGTGATCG	0.498000													4	167					0.00909568	0.00997591	0.009096	1	0
FAM173B	134145	broad.mit.edu	37	5	10249973	10249973	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:10249973C>T	uc003jeo.2	-	0	42	c.13G>A	c.(13-15)Gga>Aga	p.G5R	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.G5R|CCT5_uc011cmq.2_5'Flank|CCT5_uc003jeq.3_5'Flank|CCT5_uc011cmr.2_5'Flank|CCT5_uc011cms.2_5'Flank|CCT5_uc011cmt.2_5'Flank	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	5						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GCCTCACCTCCTCCTCCCTCC	0.532000													14	33					0	0	0.086207	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160478	132160478	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:132160478G>T	uc003kxx.3	-	5	1875	c.1070C>A	c.(1069-1071)cCt>cAt	p.P357H	SHROOM1_uc003kxy.2_Missense_Mutation_p.P357H	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	357					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAACTCTGCAGGATACATCAC	0.567000													70	99					4.37588e-27	5.64987e-27	0.139131	1	0
RFPL3	10738	broad.mit.edu	37	22	32756482	32756482	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr22:32756482A>G	uc003amj.3	+	1	822	c.617A>G	c.(616-618)aAg>aGg	p.K206R	RFPL3_uc010gwn.3_Missense_Mutation_p.K177R|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	206	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCAAAGGGAAGATCCAGCTG	0.562000													4	235					0	0	0.047766	0	0
IGSF9B	22997	broad.mit.edu	37	11	133814179	133814179	+	Silent	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr11:133814179C>A	uc001qgx.4	-	2	576	c.345G>T	c.(343-345)gtG>gtT	p.V115V	IGSF9B_uc001qgz.2_Non-coding_Transcript	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	115	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGCATGAGCACTTTGCACT	0.577000													29	30					1.74197e-06	2.06606e-06	0.116897	1	0
HPSE	10855	broad.mit.edu	37	4	84243394	84243394	+	Silent	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr4:84243394G>A	uc003hoj.4	-	1	450	c.351C>T	c.(349-351)taC>taT	p.Y117Y	HPSE_uc003hoi.3_Silent_p.Y117Y|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_5'UTR|HPSE_uc003hok.4_Silent_p.Y117Y|HPSE_uc011cct.2_Silent_p.Y117Y|HPSE_uc021xpr.1_Silent_p.Y117Y	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	117					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GAGATTGCCAGTAACTTCTCT	0.403000													19	26					0	0	0.062417	0	0
L32131	0	broad.mit.edu	37	17	58512602	58512602	+	RNA	SNP	T	T	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr17:58512602T>C	uc002iyr.1	-	0		c.756A>G								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		GCAGGGCTATTCCCTCCTTGC	0.483000													4	110					0	0	0.014758	0	0
CEP290	80184	broad.mit.edu	37	12	88524957	88524957	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr12:88524957G>T	uc001tar.3	-	6	824	c.480C>A	c.(478-480)agC>agA	p.S160R	CEP290_uc001tat.3_5'Flank|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	160					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCTTAATTTGCTGTTTTCAT	0.249000													2	1					0.0016	0.00181333	0.115264	1	0
PIGV	55650	broad.mit.edu	37	1	27121059	27121059	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:27121059C>T	uc001bmz.3	+	2	897	c.534C>T	c.(532-534)ttC>ttT	p.F178F	PIGV_uc001bna.3_Silent_p.F178F|PIGV_uc010ofg.2_Intron	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	178					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|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;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TCCTGACATTCAGTGCCATGG	0.562000													52	111					0	0	0.139131	0	0
TP53BP1	7158	broad.mit.edu	37	15	43733777	43733777	+	Silent	SNP	A	A	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr15:43733777A>G	uc001zrs.3	-	14	3178	c.3030T>C	c.(3028-3030)ccT>ccC	p.P1010P	TP53BP1_uc010udp.2_Silent_p.P1010P|TP53BP1_uc001zrq.4_Silent_p.P1015P|TP53BP1_uc001zrr.4_Silent_p.P1015P|TP53BP1_uc010udq.1_Silent_p.P1015P	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1010					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CACCAGTTGCAGGCTCTGAAT	0.388000								Other conserved DNA damage response genes					4	218					0	0	0.009096	0	0
DICER1	23405	broad.mit.edu	37	14	95556880	95556880	+	Silent	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr14:95556880G>T	uc001ydw.2	-	27	5936	c.5724C>A	c.(5722-5724)gcC>gcA	p.A1908A	DICER1_uc010avh.1_Silent_p.A806A|DICER1_uc021sbc.1_3'UTR|DICER1_uc001ydv.2_Silent_p.A1898A|DICER1_uc001ydx.2_Silent_p.A1908A	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1908	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCTTCGGAGGGCTCTTCTTG	0.413000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				34	49					7.11191e-15	8.95573e-15	0.054565	1	0
KAT7	11143	broad.mit.edu	37	17	47869250	47869250	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr17:47869250G>T	uc002ipm.3	+	1	234	c.18G>T	c.(16-18)agG>agT	p.R6S	KAT7_uc002ipl.2_Missense_Mutation_p.R6S|KAT7_uc010wma.2_Missense_Mutation_p.R6S|KAT7_uc010wmb.2_Missense_Mutation_p.R6S|KAT7_uc010wmc.2_Missense_Mutation_p.R6S|KAT7_uc010wmd.2_5'UTR|KAT7_uc010wme.2_5'UTR	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	6					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TATTACAGAGGAATGCAGGCA	0.423000													86	277					2.16659e-41	2.87003e-41	0.139131	1	0
LCT	3938	broad.mit.edu	37	2	136575050	136575050	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr2:136575050G>A	uc002tuu.1	-	5	1579	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	523	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAGAAGGCCGCATAGTCCAG	0.612000													5	160					0	0	0.029380	0	0
MACF1	23499	broad.mit.edu	37	1	39907695	39907695	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:39907695T>G	uc021olw.1	+	39	14073	c.14073T>G	c.(14071-14073)aaT>aaG	p.N4691K	MACF1_uc021ols.1_Missense_Mutation_p.N4186K|MACF1_uc021olt.1_Missense_Mutation_p.N4189K	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6257					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGACCTCAATACTGTTAAAG	0.353000													10	29					0	0	0.069234	0	0
ATP1A2	477	broad.mit.edu	37	1	160105304	160105304	+	Silent	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:160105304C>A	uc001fvc.3	+	15	2328	c.2196C>A	c.(2194-2196)ggC>ggA	p.G732G	ATP1A2_uc001fvb.2_Silent_p.G732G|ATP1A2_uc001fvd.3_Silent_p.G468G	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	732					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.M731I(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTGCCATGGGCATCTCTGGCT	0.602000													85	114					6.71967e-41	8.78726e-41	0.139131	1	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324347	39324347	+	Silent	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr17:39324347G>T	uc010cxl.3	-	0	78	c.78C>A	c.(76-78)cgC>cgA	p.R26R		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	Homo sapiens keratin associated protein 4-3 (KRTAP4-3), mRNA.	26						keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGCTGGGGCGGCAGCAGC	0.637000													4	70					2.7689e-08	3.36223e-08	0.029380	1	0
SLC35G5	83650	broad.mit.edu	37	8	11188719	11188719	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr8:11188719G>A	uc003wtp.1	+	0	225	c.104G>A	c.(103-105)gGt>gAt	p.G35D		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	35						integral to membrane		p.G35D(1)									CAGCCCTCTGGTGCCACCAAT	0.682000													7	186					0	0	0.093190	0	0
L32131	0	broad.mit.edu	37	17	58512598	58512598	+	RNA	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr17:58512598C>T	uc002iyr.1	-	0		c.760G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		TTCTGCAGGGCTATTCCCTCC	0.483000													4	114					0	0	0.014758	0	0
OTUB1	55611	broad.mit.edu	37	11	63756155	63756155	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr11:63756155G>T	uc001nyf.1	+	2	754	c.150G>T	c.(148-150)gaG>gaT	p.E50D	OTUB1_uc001nyg.1_Missense_Mutation_p.S24I|OTUB1_uc010rna.1_5'UTR|OTUB1_uc009ypb.1_Missense_Mutation_p.E20D	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 1, mRNA.	50					protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						TGGTGTCAGAGCGGCTGGAGC	0.537000													104	235					4.96818e-67	6.75672e-67	0.139131	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68282659	68282659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr14:68282659C>A	uc001xka.2	-	1	161	c.22G>T	c.(22-24)Gag>Tag	p.E8*	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Nonsense_Mutation_p.E8*|ZFYVE26_uc010tta.2_Nonsense_Mutation_p.E8*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	8					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCAGCTTCCTCTTTTCCAAAT	0.478000													22	34					0.000295444	0.000338598	0.069288	1	0
CBFA2T2	9139	broad.mit.edu	37	20	32199022	32199022	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr20:32199022A>G	uc002wzg.1	+	3	865	c.328A>G	c.(328-330)Act>Gct	p.T110A	CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Missense_Mutation_p.T101A|CBFA2T2_uc021wbz.1_Missense_Mutation_p.T81A|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.T81A|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	110						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						ATTGCCAGCCACTTGTGGTGC	0.527000													23	62					0	0	0.108266	0	0
NTN5	126147	broad.mit.edu	37	19	49167945	49167945	+	Silent	SNP	A	A	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:49167945A>C	uc002pkb.3	-	2	807	c.711T>G	c.(709-711)ggT>ggG	p.G237G	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Silent_p.G237G	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	237	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GCTCACAAACACCCCCACTCC	0.652000													5	25					0	0	0.047766	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519739	62519739	+	Silent	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr11:62519739G>A	uc001nuz.3	-	1	1670	c.1548C>T	c.(1546-1548)taC>taT	p.Y516Y		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GGATGTGGCGGTAGAGGTCCC	0.617000													4	104					0	0	0.009096	0	0
TRIM3	10612	broad.mit.edu	37	11	6486812	6486812	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr11:6486812C>T	uc001mdh.3	-	2	510	c.114G>A	c.(112-114)ctG>ctA	p.L38L	TRIM3_uc001mdi.3_Silent_p.L38L|TRIM3_uc010raj.2_Intron|TRIM3_uc009yfd.3_Silent_p.L38L|TRIM3_uc010rak.1_Silent_p.L38L|TRIM3_uc001mdj.2_5'UTR	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	38					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAGGTGTGCAGGCAAGGAA	0.607000													91	183					0	0	0.139131	0	0
TYRP1	7306	broad.mit.edu	37	9	12694339	12694339	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr9:12694339C>G	uc003zkv.4	+	1	521	c.343C>G	c.(343-345)Cct>Gct	p.P115A		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	115					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GACGTGCCGTCCTGGCTGGAG	0.507000									Oculocutaneous Albinism				10	30					0	0	0.093190	0	0
SEC24A	10802	broad.mit.edu	37	5	134002687	134002687	+	Splice_Site	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:134002687G>A	uc003kzs.3	+	3	1031	c.739_splice	c.e3+1	p.G247_splice	SEC24A_uc021ydr.1_Splice_Site_p.G247_splice|SEC24A_uc011cxu.2_Splice_Site_p.K14_splice	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	247					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACCAAGAAGGTAAGTGAACC	0.438000													44	79					0	0	0.131918	0	0
TRANK1	9881	broad.mit.edu	37	3	36873055	36873055	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr3:36873055C>T	uc003cgj.3	-	20	8135	c.7887G>A	c.(7885-7887)ctG>ctA	p.L2629L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2629					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						CCAAACAGAGCAGGCGGTTTA	0.532000													31	42					0	0	0.134883	0	0
ITPKC	80271	broad.mit.edu	37	19	41223385	41223385	+	Silent	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:41223385A>T	uc002oot.3	+	0	378	c.345A>T	c.(343-345)ccA>ccT	p.P115P	ADCK4_uc002ooq.2_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	115						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGACGGAGCCAGACAGGTCCA	0.597000													52	118					0	0	0.139131	0	0
SPOCK1	6695	broad.mit.edu	37	5	136834142	136834142	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:136834142C>A	uc003lbo.3	-	0	297	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C	SPOCK1_uc003lbp.3_Missense_Mutation_p.G36C	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	36					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGAAATTGCCGTGGTTGGGG	0.682000													13	20					2.31682e-05	2.68541e-05	0.132662	1	0
EIF2C1	26523	broad.mit.edu	37	1	36359988	36359988	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:36359988C>T	uc001bzl.3	+	6	1070	c.857C>T	c.(856-858)cCt>cTt	p.P286L	EIF2C1_uc001bzk.3_Missense_Mutation_p.P211L|EIF2C1_uc009vuy.3_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	286	PAZ.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACCCGTCGCCCTGCTAGCCAT	0.532000													22	41					0	0	0.083992	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356313	37356313	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr20:37356313C>T	uc002xjc.3	+	1	872	c.609C>T	c.(607-609)ggC>ggT	p.G203G		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	203					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.G202S(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGCTGGGCGGCCGAGTGGTGA	0.632000													4	99					0	0	0.009096	0	0
REV1	51455	broad.mit.edu	37	2	100019166	100019166	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr2:100019166C>T	uc002tad.3	-	20	3694	c.3482G>A	c.(3481-3483)gGa>gAa	p.G1161E	REV1_uc002tac.3_Missense_Mutation_p.G1160E	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	1161	Protein interaction domain; mediates interaction with DNA polymerase zeta.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCAACAGCTCCAGCTAGATT	0.493000								Direct reversal of damage					44	63					0	0	0.139131	0	0
ACSBG2	81616	broad.mit.edu	37	19	6177251	6177251	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:6177251T>G	uc002mef.1	+	7	977	c.750T>G	c.(748-750)atT>atG	p.I250M	ACSBG2_uc002mee.1_Missense_Mutation_p.I63M|ACSBG2_uc002meg.1_Missense_Mutation_p.I250M|ACSBG2_uc002meh.1_Missense_Mutation_p.I250M|ACSBG2_uc002mei.1_Missense_Mutation_p.I200M|ACSBG2_uc010xiz.1_Missense_Mutation_p.I250M	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	250					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity	p.I250M(6)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACGTGGATTGCAGGAGCAG	0.433000													3	66					0	0	0.009096	0	0
RGNEF	64283	broad.mit.edu	37	5	73163796	73163796	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:73163796G>C	uc010izf.3	+	18	2424	c.2248G>C	c.(2248-2250)Gga>Cga	p.G750R	RGNEF_uc011csq.2_Missense_Mutation_p.G750R|RGNEF_uc021yam.1_Missense_Mutation_p.G750R|RGNEF_uc011csr.2_Missense_Mutation_p.G437R	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	750					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding	p.G750R(4)					Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GGAGACTGTGGGACAGGTCCA	0.522000													9	20					0	0	0.080935	0	0
DNAH11	8701	broad.mit.edu	37	7	21730436	21730436	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr7:21730436T>C	uc003svc.3	+	35	6030	c.5999T>C	c.(5998-6000)aTt>aCt	p.I2000T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2000	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAATATTTATTACTATGAAC	0.378000									Kartagener syndrome				5	578					0	0	0.021553	0	0
RIN2	54453	broad.mit.edu	37	20	19956190	19956190	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr20:19956190C>T	uc002wro.2	+	7	1817	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Silent_p.F301F	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	507					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCAGCTCCTTCATGACCCCGG	0.592000													8	274					0	0	0.058154	0	0
TMC5	79838	broad.mit.edu	37	16	19498328	19498328	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr16:19498328T>G	uc002dgc.4	+	15	3174	c.2425T>G	c.(2425-2427)Ttc>Gtc	p.F809V	TMC5_uc010vaq.2_Missense_Mutation_p.F757V|TMC5_uc002dgb.4_Missense_Mutation_p.F809V|TMC5_uc010var.2_Missense_Mutation_p.F809V|TMC5_uc002dgd.1_Missense_Mutation_p.F563V|TMC5_uc002dge.4_Missense_Mutation_p.F563V|TMC5_uc002dgf.4_Missense_Mutation_p.F492V|TMC5_uc002dgg.4_Missense_Mutation_p.F450V	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	809						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTCATCATGTTCTACTCCAA	0.517000													31	64					0	0	0.045705	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334896	142334896	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr7:142334896C>T	uc003vzp.2	+	1	373	c.318C>T	c.(316-318)taC>taT	p.Y106Y	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Silent_p.Y107Y|TCRBV2S1_uc022anq.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GCAGCTTCTACATCTGCAGTG	0.597000													137	210					0	0	0.139131	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233939	10233939	+	Silent	SNP	C	C	T	rs147494819	by1000genomes	TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr12:10233939C>T	uc001qxb.3	-	2	372	c.288G>A	c.(286-288)acG>acA	p.T96T	CLEC1A_uc001qxd.3_Silent_p.T53T|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	96					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						ACTCTTGGGACGTATTTCCTA	0.423000													8	137					0	0	0.047766	0	0
SIVA1	10572	broad.mit.edu	37	14	105222013	105222013	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr14:105222013C>T	uc001yph.3	+	1	234	c.165C>T	c.(163-165)gaC>gaT	p.D55D	SIVA1_uc010tyj.1_Silent_p.D55D|SIVA1_uc001ypg.1_Silent_p.D55D|SIVA1_uc001ypi.3_Intron|SIVA1_uc021sel.1_5'Flank	NM_006427	NP_006418	O15304	SIVA_HUMAN	Homo sapiens SIVA1, apoptosis-inducing factor (SIVA1), transcript variant 1, mRNA.	55	Interaction with BCL2L1 isoform Bcl-x(L) and inhibition of BCL2L1 anti-apoptotic activity.				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis	cytoplasm|mitochondrion|nucleoplasm|nucleus	CD27 receptor binding|caspase activator activity|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		CCTACCTGGACCACGTGTGGG	0.607000													78	183					0	0	0.139131	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr2:95522772T>C	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGCTCCACCTCCGCGGCGTC	0.682000													3	141					0	0	0.115264	0	0
SLC9A1	6548	broad.mit.edu	37	1	27428600	27428600	+	Silent	SNP	C	C	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:27428600C>T	uc001bnm.3	-	8	2468	c.1842G>A	c.(1840-1842)ctG>ctA	p.L614L	SLC9A1_uc001bnl.3_Silent_p.L118L|SLC9A1_uc010ofk.2_Silent_p.L275L	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	614					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCTCGGAAGGCAGGGACTTGG	0.582000													65	158					0	0	0.139131	0	0
ZNF134	7693	broad.mit.edu	37	19	58131703	58131703	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:58131703C>A	uc002qpn.2	+	2	315	c.216C>A	c.(214-216)caC>caA	p.H72Q	ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'Flank	NM_003435	NP_003426	P52741	ZN134_HUMAN	Homo sapiens zinc finger protein 134 (ZNF134), mRNA.	72						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGGGTACACACCATGGACTGA	0.493000													26	44					1.42536e-11	1.773e-11	0.099896	1	0
KIF6	221458	broad.mit.edu	37	6	39313488	39313488	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr6:39313488G>T	uc003oot.2	-	20	2404	c.2309C>A	c.(2308-2310)cCa>cAa	p.P770Q	KIF6_uc003oos.2_Missense_Mutation_p.P221Q|KIF6_uc010jwz.1_Missense_Mutation_p.P145Q|KIF6_uc010jxa.1_Missense_Mutation_p.P544Q|KIF6_uc011dua.1_Missense_Mutation_p.P753Q|KIF6_uc010jxb.1_Missense_Mutation_p.P714Q	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	770					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTCTTCCAGTGGGGTGCTGGT	0.557000													22	32					7.76418e-22	9.89933e-22	0.108266	1	0
METTL10	399818	broad.mit.edu	37	10	126477651	126477651	+	Silent	SNP	A	A	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr10:126477651A>G	uc001lhy.1	-	2	289	c.252T>C	c.(250-252)ctT>ctC	p.L84L	FAM53B_uc001lhu.1_5'UTR|METTL10_uc001lhz.1_5'UTR|METTL10_uc001lia.1_5'UTR	NM_212554	NP_997719	Q5JPI9	MTL10_HUMAN	Homo sapiens methyltransferase like 10 (METTL10), mRNA.	84							methyltransferase activity			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		TTCCAATATCAAGCACTGAAG	0.348000													36	62					0	0	0.064281	0	0
ATP11A	23250	broad.mit.edu	37	13	113516825	113516825	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr13:113516825C>G	uc001vsj.4	+	24	3015	c.2927C>G	c.(2926-2928)gCa>gGa	p.A976G	ATP11A_uc001vsi.4_Missense_Mutation_p.A976G|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	976					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGTTTGACGCACTGGTGTTC	0.537000													33	46					0	0	0.054565	0	0
IRF6	3664	broad.mit.edu	37	1	209964089	209964089	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:209964089G>C	uc001hhq.2	-	6	1115	c.811C>G	c.(811-813)Ctg>Gtg	p.L271V	IRF6_uc010psm.2_Missense_Mutation_p.L176V	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	271					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ACCTGCTCCAGGCTGACGGGA	0.572000										HNSCC(57;0.16)			60	80					0	0	0.139131	0	0
HIPK2	28996	broad.mit.edu	37	7	139299101	139299101	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr7:139299101T>C	uc003vvf.4	-	7	2192	c.1921A>G	c.(1921-1923)Aca>Gca	p.T641A	HIPK2_uc003vvd.4_Missense_Mutation_p.T614A	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	641	Interaction with SKI and SMAD1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATCTGGGCTGTTCCTGTCTGC	0.597000													38	53					0	0	0.092188	0	0
ERMP1	79956	broad.mit.edu	37	9	5801231	5801231	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr9:5801231A>T	uc003zjm.1	-	10	2066	c.2012T>A	c.(2011-2013)tTt>tAt	p.F671Y	ERMP1_uc022bdc.1_Non-coding_Transcript|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Missense_Mutation_p.F285Y	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	671					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ATATGGAAAAAATGTTCCACT	0.403000													16	44					0	0	0.132662	0	0
ATP11A	23250	broad.mit.edu	37	13	113516824	113516824	+	Missense_Mutation	SNP	G	G	A	rs140812688		TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr13:113516824G>A	uc001vsj.4	+	24	3014	c.2926G>A	c.(2926-2928)Gca>Aca	p.A976T	ATP11A_uc001vsi.4_Missense_Mutation_p.A976T|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	976					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACTGTTTGACGCACTGGTGTT	0.537000													33	46					0	0	0.054565	0	0
KCNU1	157855	broad.mit.edu	37	8	36698474	36698474	+	Silent	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr8:36698474C>A	uc010lvw.3	+	15	1743	c.1656C>A	c.(1654-1656)ctC>ctA	p.L552L	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	552	Segment S8.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGATGCACCTCCTGTTGATAG	0.413000													5	19					1.23904e-05	1.45267e-05	0.014758	1	0
EPHA8	2046	broad.mit.edu	37	1	22903356	22903356	+	Missense_Mutation	SNP	G	G	C	rs139777546	byFrequency	TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:22903356G>C	uc001bfx.1	+	2	931	c.806G>C	c.(805-807)cGg>cCg	p.R269P	EPHA8_uc001bfw.3_Missense_Mutation_p.R269P	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	269	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACGAGGAGCGGCGGGATGCC	0.677000													17	34					0	0	0.049695	0	0
FAM198B	51313	broad.mit.edu	37	4	159092402	159092402	+	Silent	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr4:159092402A>T	uc003ipq.4	-	1	533	c.126T>A	c.(124-126)acT>acA	p.T42T	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Silent_p.T42T|FAM198B_uc003ipr.4_Silent_p.T42T|FAM198B_uc003ips.3_Silent_p.T42T|AK126266_uc003ipt.1_Non-coding_Transcript	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	42						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGCACACGCAGTGCCCAGCA	0.637000													94	157					0	0	0.139131	0	0
DOCK9	23348	broad.mit.edu	37	13	99481713	99481713	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr13:99481713T>C	uc001vnt.2	-	42	4802	c.4747A>G	c.(4747-4749)Acc>Gcc	p.T1583A	DOCK9_uc001vnw.2_Missense_Mutation_p.T1582A|DOCK9_uc021rlw.1_Missense_Mutation_p.T1582A|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.T1583A|DOCK9_uc001vnq.2_Missense_Mutation_p.T155A|DOCK9_uc001vnr.2_Missense_Mutation_p.T226A|DOCK9_uc010tin.1_Missense_Mutation_p.T226A|DOCK9_uc001vns.2_Missense_Mutation_p.T155A|DOCK9_uc010tio.1_Missense_Mutation_p.T275A|DOCK9_uc010tip.1_Missense_Mutation_p.T293A|DOCK9_uc001vnu.1_Missense_Mutation_p.T155A|DOCK9_uc010tiq.1_Missense_Mutation_p.T561A	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1583	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCTGGGCGGTGGCCATTAGC	0.542000													11	41					0	0	0.093190	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:12887606C>G	uc001auk.2	-	2	447	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	84								p.C84S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													6	559					0	0	0.058154	0	0
ITGB7	3695	broad.mit.edu	37	12	53587039	53587039	+	Silent	SNP	G	G	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr12:53587039G>A	uc009zmv.3	-	10	1682	c.1611C>T	c.(1609-1611)tgC>tgT	p.C537C	ITGB7_uc001scc.3_Silent_p.C537C|ITGB7_uc010snz.2_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	537	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTTCCACTGCACAGGGGCC	0.627000													5	102					0	0	0.014758	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49971767	49971767	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:49971767A>T	uc002pnt.3	+	14	2184	c.2068A>T	c.(2068-2070)Act>Tct	p.T690S	ALDH16A1_uc010yar.2_Missense_Mutation_p.T639S|ALDH16A1_uc010yas.2_Missense_Mutation_p.T525S|ALDH16A1_uc010yat.2_Missense_Mutation_p.T527S	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	690							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTACGGCAACACTGTGGTCAT	0.687000													159	264					0	0	0.139131	0	0
CCDC102A	92922	broad.mit.edu	37	16	57562850	57562850	+	Silent	SNP	C	C	A			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr16:57562850C>A	uc002elw.3	-	1	453	c.240G>T	c.(238-240)ctG>ctT	p.L80L		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	80										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GCGCCTCCTCCAGCTCCCGCA	0.761000													4	7					0.00448238	0.00502421	0.047766	1	0
F13B	2165	broad.mit.edu	37	1	197021793	197021794	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr1:197021793_197021794delTC	uc001gtt.1	-	8	1569_1570	c.1525_1526delGA	c.(1525-1527)gaafs	p.E509fs		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	509	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATATTTCACTTCTCCTCTGTTG	0.327													2	4	---	---	---	---					
CTBP1	1487	broad.mit.edu	37	4	1232016	1232016	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr4:1232016delA	uc003gcw.3	-	1	315	c.150delT	c.(148-150)actfs	p.T50fs	CTBP1_uc003gcu.1_Frame_Shift_Del_p.T39fs|CTBP1_uc003gcv.1_Frame_Shift_Del_p.T50fs|CTBP1_uc003gcx.1_Frame_Shift_Del_p.T39fs	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	50	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AGAAGGCCACAGTGGCCACGT	0.657													80	198	---	---	---	---					
MAST4	375449	broad.mit.edu	37	5	66438012	66438022	+	Frame_Shift_Del	DEL	AGGCAGAATTT	AGGCAGAATTT	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr5:66438012_66438022delAGGCAGAATTT	uc021xzk.1	+	19	2872_2882	c.2564_2574delAGGCAGAATTT	c.(2563-2574)aaggcagaatttfs	p.K855fs	MAST4_uc003jut.2_Frame_Shift_Del_p.K666fs|MAST4_uc003juu.1_Frame_Shift_Del_p.K676fs|MAST4_uc011cra.1_Frame_Shift_Del_p.K649fs|MAST4_uc003juv.2_Frame_Shift_Del_p.K661fs|MAST4_uc003juw.3_Frame_Shift_Del_p.K661fs	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	858	AGC-kinase C-terminal.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CTGAGACAGAAGGCAGAATTTATTCCCCAAC	0.403													16	25	---	---	---	---					
HIST1H2AD	3013	broad.mit.edu	37	6	26199108	26199109	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr6:26199108_26199109delCA	uc003ngw.3	-	0	363_364	c.363_364delTG	c.(361-366)actgagfs	p.T121fs	HIST1H3D_uc003ngv.3_5'UTR|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2BF_uc003ngx.3_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	Homo sapiens histone cluster 1, H2ad (HIST1H2AD), mRNA.	121					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				TGGTGACTCTCAGTCTTCTTGG	0.485													27	261	---	---	---	---					
BTN3A2	11118	broad.mit.edu	37	6	26370805	26370805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr6:26370805delA	uc010jqh.2	+	4	948	c.689delA	c.(688-690)gaafs	p.E230fs	BTN3A2_uc003nhp.3_Frame_Shift_Del_p.E230fs|BTN3A2_uc011dkd.2_Frame_Shift_Del_p.E188fs|BTN3A2_uc011dke.2_Frame_Shift_Del_p.E207fs|BTN3A2_uc010jqi.2_Frame_Shift_Del_p.E230fs	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	230						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CTCGGCCTGGAAAAGACAGCC	0.522													70	127	---	---	---	---					
HLA-C	3107	broad.mit.edu	37	6	31324737	31324737	+	Frame_Shift_Del	DEL	G	G	-	rs41563916		TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr6:31324737delG	uc021yum.1	-	0	220	c.104delC	c.(103-105)ccafs	p.P35fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_5'Flank|HLA-C_uc003nth.2_Intron|HLA-C_uc003nti.1_5'Flank|HLA-C_uc010jsn.1_5'Flank|HLA-C_uc010jso.2_5'Flank			Q9TNN7	1C05_HUMAN	SubName: Full=Major histocompatibility complex, class I, B; Flags: Fragment;	0	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTGGGAGCCTGGGGGTGAGGA	0.721													9	11	---	---	---	---					
MAGI2	9863	broad.mit.edu	37	7	79082570	79082571	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr7:79082570_79082571insC	uc003ugx.3	-	0	320_321	c.66_67insG	c.(64-69)aggaacfs	p.R22fs	MAGI2_uc003ugy.3_Frame_Shift_Ins_p.R22fs|MAGI2-AS3_uc022agq.1_Intron|MAGI2-AS3_uc022agr.1_Intron|MAGI2-AS3_uc010lea.2_5'Flank|MAGI2-AS3_uc022ags.1_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	22	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCCTCCGGGTTCCTGCCAATGA	0.589													7	1049	---	---	---	---					
OSBPL5	114879	broad.mit.edu	37	11	3143300	3143300	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr11:3143300delT	uc001lxk.2	-	4	487	c.329delA	c.(328-330)aagfs	p.K110fs	OSBPL5_uc010qxq.1_Frame_Shift_Del_p.K62fs|OSBPL5_uc009ydw.2_Frame_Shift_Del_p.K110fs|OSBPL5_uc001lxl.2_Frame_Shift_Del_p.K110fs|OSBPL5_uc009ydx.3_Frame_Shift_Del_p.K134fs	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	110					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCGCGCTTCTTCTCCTGCCG	0.687													11	15	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546691	11546692	+	In_Frame_Ins	INS	-	-	TTG			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr12:11546691_11546692insTTG	uc010shk.1	-	2	355_356	c.320_321insCAA	c.(319-321)aag>aaCAAg	p.106_107insN		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.N106Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACTTCGGGACTTGTCTCCTTG	0.604													7	2005	---	---	---	---					
FSD2	123722	broad.mit.edu	37	15	83437762	83437764	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr15:83437762_83437764delTAA	uc002bjd.2	-	8	1588_1590	c.1421_1423delTTA	c.(1420-1425)attaaa>aaa	p.I474del	FSD2_uc010uol.1_In_Frame_Del_p.I429del|FSD2_uc010uom.1_In_Frame_Del_p.I429del	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	474	Fibronectin type-III 2.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCTTTGGTTTTAATAATGGGGGG	0.483													9	13	---	---	---	---					
KIAA0430	9665	broad.mit.edu	37	16	15716936	15716936	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr16:15716936delA	uc002ddr.3	-	10	2522	c.2315delT	c.(2314-2316)ttcfs	p.F772fs	KIAA0430_uc002ddq.3_Intron|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.F769fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.F772fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	771						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGCAATGTTGAAAGCAAGCGG	0.408													63	137	---	---	---	---					
CEP192	55125	broad.mit.edu	37	18	13049324	13049324	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr18:13049324delT	uc010xac.2	+	15	2614	c.2534delT	c.(2533-2535)gttfs	p.V845fs	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Frame_Shift_Del_p.V370fs|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krs.1_Frame_Shift_Del_p.V586fs	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	440										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGCTATTGTTTATGTTGAA	0.383													19	42	---	---	---	---					
COX7A1	1346	broad.mit.edu	37	19	36642400	36642402	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:36642400_36642402delTGT	uc002odm.1	-	2	611_613	c.149_151delACA	c.(148-153)aacatc>atc	p.N50del		NM_001864	NP_001855	P24310	CX7A1_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) (COX7A1), nuclear gene encoding mitochondrial protein, mRNA.	50					generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGTACAGGATGTTGTCAACGAT	0.626													64	179	---	---	---	---					
ERF	2077	broad.mit.edu	37	19	42752789	42752790	+	In_Frame_Ins	INS	-	-	AAA			TCGA-B9-4115-01A-01D-1252-08	TCGA-B9-4115-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c21a098-a845-4933-9153-f44ea58bb752	50da5c23-8dd6-49bd-8316-9d1438d89ee8	g.chr19:42752789_42752790insAAA	uc002ote.4	-	3	1632_1633	c.1474_1475insTTT	c.(1474-1476)tgt>tTTTgt	p.491_492insF	ERF_uc002otd.4_In_Frame_Ins_p.222_223insF	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	491					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TTCGAGGCGACAGTCTTCACTC	0.698													60	195	---	---	---	---					
