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
HAND2	9464	broad.mit.edu	37	4	174450317	174450317	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:174450317A>T	uc003itg.1	-	0	214	c.124T>A	c.(124-126)Tac>Aac	p.Y42N	NBLA00301_uc003itj.3_5'Flank|NBLA00301_uc010irf.3_5'Flank|NBLA00301_uc010irg.3_5'Flank|NBLA00301_uc011ckd.2_5'Flank|NBLA00301_uc010irh.3_5'Flank|NBLA00301_uc010iri.3_5'Flank|NBLA00301_uc010irj.3_5'Flank|NBLA00301_uc010irk.3_5'Flank|NBLA00301_uc003itl.4_5'Flank|NBLA00301_uc010irl.3_5'Flank|NBLA00301_uc010irn.3_5'Flank|NBLA00301_uc010irm.3_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003ith.1_Missense_Mutation_p.Y42N			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	42					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCATGGAAGTAGGGGTTCTCC	0.726000													5	15					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239108	126239108	+	Silent	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:126239108T>C	uc003ifj.4	+	0	1542	c.1542T>C	c.(1540-1542)atT>atC	p.I514I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	514	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTTACAGCATTGTCTCTGGCA	0.562000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	78					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177056301	177056301	+	Missense_Mutation	SNP	G	G	A	rs140987021		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:177056301G>A	uc003iuj.3	+	8	1516	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	WDR17_uc003ium.4_Missense_Mutation_p.D381N|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	405										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAAACCTGACGATCCTAATCT	0.353000													48	95					0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44333050	44333050	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr22:44333050G>A	uc003bei.1	+	5	1050	c.877G>A	c.(877-879)Gct>Act	p.A293T	PNPLA3_uc010gzm.1_Non-coding_Transcript	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	Homo sapiens patatin-like phospholipase domain containing 3 (PNPLA3), mRNA.	293					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GGCTGCCTTGGCTGTGAGGCT	0.617000													35	69					0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	28047190	28047190	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr8:28047190G>C	uc003xgo.4	+	14	1740	c.1592G>C	c.(1591-1593)aGa>aCa	p.R531T	ELP3_uc003xgn.4_Missense_Mutation_p.R516T|ELP3_uc011las.2_Missense_Mutation_p.R412T|ELP3_uc011lat.2_Missense_Mutation_p.R412T|ELP3_uc011laq.2_Missense_Mutation_p.R459T|ELP3_uc011lar.2_Missense_Mutation_p.R439T	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	531	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AATTATTATAGAAAGATCGGC	0.468000													18	41					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57566959	57566959	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr12:57566959C>A	uc001snd.3	+	20	3638	c.3172C>A	c.(3172-3174)Ccc>Acc	p.P1058T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1058					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P1058T(6)|p.R1057R(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCCACGAGGCCCCCTGGTGG	0.672000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	89					0.217242	0.219199	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117075179	117075179	+	Silent	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr10:117075179G>A	uc001lcg.3	+	17	3356	c.2970G>A	c.(2968-2970)gaG>gaA	p.E990E	ATRNL1_uc010qsm.2_Silent_p.E165E|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	990	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACCACAGTGAGATGGTTCTTG	0.413000													30	82					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33623074	33623074	+	Silent	SNP	A	A	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:33623074A>C	uc002xbk.3	-	7	937	c.903T>G	c.(901-903)ctT>ctG	p.L301L	TRPC4AP_uc010zuq.2_5'UTR|TRPC4AP_uc010zur.2_Silent_p.L262L|TRPC4AP_uc002xbl.3_Silent_p.L301L|TRPC4AP_uc002xbm.1_Silent_p.L301L	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	301	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCAGTTTGCAAAGCCGCTCAA	0.507000													25	55					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166152284	166152284	+	Splice_Site	SNP	A	A	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:166152284A>G	uc002udc.3	+	2	240	c.-50_splice	c.e2-1		SCN2A_uc002udd.3_Splice_Site|SCN2A_uc002ude.3_Splice_Site	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.						myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTTCTGTAGCACTTTCTTATG	0.438000													10	36					0	0	1	0	0
PLEKHD1	400224	broad.mit.edu	37	14	69994009	69994009	+	Silent	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr14:69994009G>A	uc010ttf.1	+	10	1373	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E		NM_001161498	NP_001154970	B9EJC2	B9EJC2_HUMAN	Homo sapiens pleckstrin homology domain containing, family D (with coiled-coil domains) member 1 (PLEKHD1), mRNA.	387										breast(1)|endometrium(1)|kidney(2)	4						GGAATAAGGAGAAGGAGGAGA	0.612000													36	95					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1630178	1630178	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:1630178C>G	uc002ftj.2	+	0	2054	c.1925C>G	c.(1924-1926)cCc>cGc	p.P642R	WDR81_uc002fth.2_Intron|WDR81_uc010vqp.1_Intron|WDR81_uc002fti.2_Intron	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAGGCCACTCCCTGTGAGGCT	0.587000													32	45					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685614	47685614	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:47685614C>G	uc001cqx.2	-	3	1351	c.774G>C	c.(772-774)aaG>aaC	p.K258N	TAL1_uc009vyq.2_Missense_Mutation_p.R15T|TAL1_uc001cqy.2_Missense_Mutation_p.K258N	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	258					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CCACAGGGTCCTTGCCAGTCT	0.642000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								16	38					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33623099	33623099	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:33623099C>A	uc002xbk.3	-	7	912	c.878G>T	c.(877-879)aGc>aTc	p.S293I	TRPC4AP_uc010zuq.2_5'UTR|TRPC4AP_uc010zur.2_Missense_Mutation_p.S254I|TRPC4AP_uc002xbl.3_Missense_Mutation_p.S293I|TRPC4AP_uc002xbm.1_Missense_Mutation_p.S293I	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	293	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GCCAGGAATGCTGAGAAGGGC	0.498000													17	49					5.35267e-07	5.70951e-07	1	1	0
RNF152	220441	broad.mit.edu	37	18	59483369	59483369	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr18:59483369G>C	uc002lih.1	-	1	740	c.328C>G	c.(328-330)Cgt>Ggt	p.R110G	RNF152_uc021ula.1_Missense_Mutation_p.R110G	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	110					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGCAGCGCACGCTCCTTGGAG	0.627000													20	45					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100030705	100030705	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr7:100030705T>A	uc003uuw.3	+	1	2223	c.1835T>A	c.(1834-1836)aTc>aAc	p.I612N	MEPCE_uc022ain.1_Missense_Mutation_p.I143N|MEPCE_uc022aio.1_Missense_Mutation_p.I143N|MEPCE_uc003uuv.3_Missense_Mutation_p.I143N	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	612	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTGGGGGCATCCTGGTCCTA	0.577000													64	226					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:207025366G>A	uc002vbg.1	+	2	247	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(10)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													6	175					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130206739	130206739	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr9:130206739T>C	uc004bqw.4	+	4	1174	c.760T>C	c.(760-762)Tgt>Cgt	p.C254R	ZNF79_uc011maf.2_Missense_Mutation_p.C230R|ZNF79_uc011mag.2_Missense_Mutation_p.C230R	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GTGCAGTGAATGTGGAAGAGC	0.532000													28	78					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56766300	56766300	+	Silent	SNP	G	G	A	rs142595048		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr3:56766300G>A	uc003dih.2	-	11	1400	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G	ARHGEF3_uc011bew.1_Silent_p.G398G|ARHGEF3_uc011bev.1_Silent_p.G369G|ARHGEF3_uc003dif.2_Silent_p.G404G|ARHGEF3_uc003dig.2_Silent_p.G398G|ARHGEF3_uc010hmy.1_Silent_p.G196G|ARHGEF3_uc003dii.2_Silent_p.G398G	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	398	PH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTCGCAGGGAGCCACCCAGCC	0.557000													38	130					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35492269	35492269	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:35492269C>A	uc001mwf.3	-	4	635	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F	PAMR1_uc001mwg.3_Missense_Mutation_p.V198F|PAMR1_uc010rew.2_Intron|PAMR1_uc010rex.2_Missense_Mutation_p.V158F	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	198	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTGCCACAGACACGCTTGATG	0.517000													11	198					2.32078e-09	2.54831e-09	1	1	0
EPHX1	2052	broad.mit.edu	37	1	226030105	226030105	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:226030105T>C	uc001hpk.3	+	6	1050	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	EPHX1_uc001hpl.3_Missense_Mutation_p.Y324H	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	324					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCTGGCTGCCTATATTCTAGA	0.582000													27	79					0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170965712	170965712	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:170965712C>G	uc010plz.2	+	13	1556	c.1402C>G	c.(1402-1404)Cta>Gta	p.L468V	C1orf129_uc001ghg.3_Missense_Mutation_p.L468V|C1orf129_uc009wvy.3_Missense_Mutation_p.L275V	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	468							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGATATTACTCTAATGAAGGA	0.443000													27	76					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66190397	66190397	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr15:66190397G>A	uc002apm.2	-	22	3151	c.3010C>T	c.(3010-3012)Cat>Tat	p.H1004Y	MEGF11_uc002apl.2_Missense_Mutation_p.H929Y	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	1004						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGGAGTTATGACCGCAACCT	0.463000													27	81					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916564	86916564	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:86916564G>A	uc003hpk.3	+	8	2206	c.1757G>A	c.(1756-1758)gGg>gAg	p.G586E	ARHGAP24_uc003hpl.3_Missense_Mutation_p.G491E|ARHGAP24_uc010ikf.3_Missense_Mutation_p.G501E|ARHGAP24_uc003hpm.3_Missense_Mutation_p.G493E	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	586					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTTTGGGGGGAACTTTGAG	0.562000													49	96					0	0	1	0	0
C2orf81	388963	broad.mit.edu	37	2	74642884	74642884	+	Silent	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:74642884G>A	uc010yrq.1	-	2	738	c.429C>T	c.(427-429)ccC>ccT	p.P143P	DQ588163_uc002sla.3_Non-coding_Transcript	NM_001145054	NP_001138526			Homo sapiens chromosome 2 open reading frame 81 (C2orf81), mRNA.											endometrium(3)|kidney(1)	4						CGTGCAGCACGGGCACTGAAC	0.637000													41	91					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395501	154395501	+	Silent	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr5:154395501G>A	uc010jih.1	+	0	2242	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	694	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAACTTCCAGAAACAATCCA	0.438000													64	201					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66526491	66526491	+	Silent	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:66526491G>A	uc002jhg.3	+	10	1227	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	PRKAR1A_uc002jhh.3_Silent_p.K349K|PRKAR1A_uc002jhi.3_Silent_p.K349K|PRKAR1A_uc002jhj.3_Silent_p.K349K|PRKAR1A_uc002jhk.3_Silent_p.K225K|PRKAR1A_uc002jhl.3_Silent_p.K349K	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	349					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AGTGCGTTAAGCTGGACCGAC	0.488000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				8	276					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170698	159170698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:159170698G>T	uc001ftl.2	+	8	1362	c.1183G>T	c.(1183-1185)Gaa>Taa	p.E395*	CADM3_uc001ftk.2_Nonsense_Mutation_p.E429*|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	395					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.T395T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CGACAAGAAGGAATATTTCAT	0.617000													22	180					1.96895e-08	2.14099e-08	1	1	0
ABCA4	24	broad.mit.edu	37	1	94486858	94486858	+	Silent	SNP	A	A	G	rs61750561		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:94486858A>G	uc001dqh.3	-	34	5060	c.4956T>C	c.(4954-4956)taT>taC	p.Y1652Y	ABCA4_uc009wdp.1_5'Flank	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1652			Y -> D (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGTGATTCCATACTCCTCGG	0.547000													5	156					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72292965	72292965	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:72292965C>T	uc010rrc.2	-	21	2124	c.1878G>A	c.(1876-1878)atG>atA	p.M626I	PDE2A_uc001oso.3_Missense_Mutation_p.M605I|PDE2A_uc010rra.2_Missense_Mutation_p.M619I|PDE2A_uc001osn.3_Missense_Mutation_p.M370I|PDE2A_uc010rrb.2_Missense_Mutation_p.M617I|PDE2A_uc010rrd.2_Missense_Mutation_p.M511I	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	626					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TGATGAAATTCATGTCCTGCA	0.577000													24	53					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97847037	97847037	+	Silent	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr7:97847037C>T	uc003upg.3	-	24	3556	c.3351G>A	c.(3349-3351)gaG>gaA	p.E1117E		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	1117						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCCTTGGGCTCGTGAGGCT	0.667000													16	38					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132180102	132180102	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:132180102T>C	uc010sci.2	+	5	1089	c.758T>C	c.(757-759)tTc>tCc	p.F253S	NTM_uc001qgm.3_Missense_Mutation_p.F253S|NTM_uc010sch.2_Missense_Mutation_p.F244S|NTM_uc010scj.2_Missense_Mutation_p.F212S|NTM_uc001qgo.3_Missense_Mutation_p.F253S|NTM_uc001qgq.3_Missense_Mutation_p.F253S|NTM_uc001qgp.3_Missense_Mutation_p.F253S	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	253	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TCAGCAGAATTCCAGTGGTAC	0.517000													68	159					0	0	1	0	0
KIAA1239	57495	broad.mit.edu	37	4	37447380	37447380	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:37447380T>G	uc011bxz.2	+	6	3770	c.3770T>G	c.(3769-3771)tTt>tGt	p.F1257C		NM_001144990	NP_001138462	Q9ULI1	K1239_HUMAN	Homo sapiens KIAA1239 (KIAA1239), mRNA.	1257										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TCAGCTGTGTTTTTTTGGAGG	0.443000													19	179					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24929447	24929447	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:24929447G>A	uc002rfk.3	+	10	1367	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	NCOA1_uc010eye.3_Missense_Mutation_p.G370R|NCOA1_uc002rfi.3_Missense_Mutation_p.G219R|NCOA1_uc002rfj.3_Missense_Mutation_p.G370R|NCOA1_uc002rfl.3_Missense_Mutation_p.G370R	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	370	Interaction with STAT3.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCACAGTGGGCTTTCTCC	0.383000			T	PAX3	alveolar rhadomyosarcoma								18	38					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150921871	150921871	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr5:150921871G>T	uc003lue.4	-	8	8830	c.8817C>A	c.(8815-8817)aaC>aaA	p.N2939K		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2939	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCTGCCTGTTCTGCTCAG	0.502000													25	62					4.22769e-11	4.73502e-11	1	1	0
CD300A	11314	broad.mit.edu	37	17	72473598	72473598	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:72473598T>C	uc002jkv.3	+	3	878	c.557T>C	c.(556-558)cTg>cCg	p.L186P	CD300A_uc002jkw.3_Missense_Mutation_p.L73P|CD300A_uc010dfr.3_Missense_Mutation_p.L73P|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	186					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CTCTCCCTGCTGGCATTGTTG	0.532000													3	117					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519496	43519496	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr19:43519496G>T	uc002ovm.1	-	3	843	c.736C>A	c.(736-738)Cct>Act	p.P246T	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.P124T|PSG11_uc002ovo.1_Missense_Mutation_p.P124T	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	246	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GTGACTGAAGGGAAAATTCTG	0.468000													36	44					1.91236e-09	2.12063e-09	1	1	0
ESAM	90952	broad.mit.edu	37	11	124623587	124623587	+	Silent	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:124623587C>T	uc001qav.4	-	6	1301	c.1128G>A	c.(1126-1128)gtG>gtA	p.V376V	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Silent_p.V303V|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	376					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CCATCACAGGCACAGCACCCA	0.577000													6	59					0	0	1	0	0
TCHP	84260	broad.mit.edu	37	12	110341898	110341898	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr12:110341898A>T	uc001tpn.3	+	2	498	c.345A>T	c.(343-345)agA>agT	p.R115S	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Missense_Mutation_p.R115S	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	115	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AGGAAAGAAGAATCCGGGAGC	0.577000													24	94					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87760467	87760467	+	Silent	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr16:87760467C>T	uc002fki.3	-	6	765	c.663G>A	c.(661-663)ctG>ctA	p.L221L	KLHDC4_uc010cht.2_Silent_p.L40L|KLHDC4_uc002fkj.3_Silent_p.L190L|KLHDC4_uc002fkl.3_Silent_p.L164L|KLHDC4_uc010chu.1_Silent_p.L40L	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	221										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CTGACGGGGACAGCTTGCTCC	0.557000													102	91					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140806	56140806	+	Silent	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:56140806C>A	uc002xyn.4	+	9	1978	c.1815C>A	c.(1813-1815)ccC>ccA	p.P605P	PCK1_uc010zzm.2_Silent_p.P288P	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	605					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.P605H(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCGACCTCCCCTGTGAAATCG	0.463000													39	86					3.61183e-13	4.08611e-13	1	1	0
AK098438	0	broad.mit.edu	37	1	21750970	21750970	+	RNA	SNP	T	T	A	rs149361209	by1000genomes	TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:21750970T>A	uc001bep.1	-	4		c.688A>T								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		GCCACTGGCATGGTCTGAGAA	0.498000													3	50					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612760	53612760	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr19:53612760T>A	uc002qax.3	-	6	1031	c.682A>T	c.(682-684)Ata>Tta	p.I228L	ZNF415_uc010yds.2_Missense_Mutation_p.I180L|ZNF415_uc010ydt.2_Missense_Mutation_p.I180L|ZNF415_uc002qau.3_Missense_Mutation_p.I167L|ZNF415_uc002qav.3_Missense_Mutation_p.I192L|ZNF415_uc002qaw.3_Missense_Mutation_p.I180L|ZNF415_uc002qay.3_Missense_Mutation_p.I167L|ZNF415_uc002qaz.3_Missense_Mutation_p.I228L|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GAAGAAATTATTTGGGGTGGT	0.383000													8	43					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27459983	27459983	+	Silent	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr16:27459983G>T	uc002dor.2	+	9	1610	c.1062G>T	c.(1060-1062)acG>acT	p.T354T	IL21R_uc002doq.2_Silent_p.T332T|IL21R_uc002dos.2_Silent_p.T332T|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	332					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGCAGCTCACGGAGCTACAAG	0.662000			T	BCL6	NHL								51	156					3.7469e-33	4.46439e-33	1	1	0
SPON2	10417	broad.mit.edu	37	4	1164263	1164263	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:1164263C>A	uc003gco.4	-	4	1067	c.738G>T	c.(736-738)caG>caT	p.Q246H	SPON2_uc021xkj.1_Missense_Mutation_p.Q246H|SPON2_uc010ibr.3_Missense_Mutation_p.Q246H|SPON2_uc003gcm.1_3'UTR	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	246					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CCCTGGGGCTCTGTCGCAGCC	0.637000													43	69					1.15183e-24	1.3438e-24	1	1	0
FN1	2335	broad.mit.edu	37	2	216274676	216274676	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:216274676G>T	uc002vfa.3	-	13	2369	c.2103C>A	c.(2101-2103)agC>agA	p.S701R	FN1_uc002vfc.3_Missense_Mutation_p.S701R|FN1_uc002vfe.3_Missense_Mutation_p.S701R|FN1_uc002vff.3_Missense_Mutation_p.S701R|FN1_uc002vfg.3_Missense_Mutation_p.S701R|FN1_uc002vfh.3_Missense_Mutation_p.S701R|FN1_uc002vfi.3_Missense_Mutation_p.S701R|FN1_uc002vfj.3_Missense_Mutation_p.S701R|FN1_uc002vfb.3_Missense_Mutation_p.S701R	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	701					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGTGCTGGTGCTGGTGGTGG	0.557000													88	299					1.34337e-38	1.61782e-38	1	1	0
GAS2	2620	broad.mit.edu	37	11	22759307	22759307	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:22759307G>A	uc009yie.3	+	4	772	c.466G>A	c.(466-468)Gca>Aca	p.A156T	GAS2_uc001mqm.3_Missense_Mutation_p.A156T|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.A156T	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	156	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TGGCCGGATTGCAGCCAGGTA	0.458000													44	109					0	0	1	0	0
EXOSC8	11340	broad.mit.edu	37	13	37583387	37583387	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr13:37583387A>G	uc001uwa.3	+	10	1047	c.782A>G	c.(781-783)gAa>gGa	p.E261G		NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	Homo sapiens exosome component 8 (EXOSC8), mRNA.	261					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		AGACACAAAGAAGTTAAAAAA	0.338000													23	78					0	0	1	0	0
C1orf159	54991	broad.mit.edu	37	1	1019513	1019513	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:1019513C>T	uc001act.2	-	10	1316	c.830G>A	c.(829-831)cGc>cAc	p.R277H	C1orf159_uc001acu.2_Intron|C1orf159_uc001acr.2_Intron|C1orf159_uc001acs.2_Intron|C1orf159_uc010nyd.1_Intron|C1orf159_uc001acn.2_Missense_Mutation_p.R241H	NM_017891	NP_060361	Q96HA4	CA159_HUMAN	Homo sapiens chromosome 1 open reading frame 159 (C1orf159), mRNA.	277	Pro-rich.					integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TAAAGGGGGGCGGGCAGGGGG	0.657000													4	36					0	0	1	0	0
POLR2C	5432	broad.mit.edu	37	16	57503976	57503976	+	Silent	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr16:57503976G>A	uc002elt.1	+	6	629	c.543G>A	c.(541-543)ggG>ggA	p.G181G		NM_032940	NP_116558	P19387	RPB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide C, 33kDa (POLR2C), mRNA.	181					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CTACTGCAGGGGTGGCTTTTG	0.537000													138	124					0	0	1	0	0
LRRD1	401387	broad.mit.edu	37	7	91794441	91794441	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr7:91794441A>T	uc011khp.1	-	0	150	c.76T>A	c.(76-78)Tca>Aca	p.S26T	CYP51A1_uc003uln.4_Intron|AL133568_uc003ulo.1_Intron|CYP51A1_uc011kho.2_Intron	NM_001161528	NP_001155000	A4D1F6	LRRD1_HUMAN	Homo sapiens leucine-rich repeats and death domain containing 1 (LRRD1), mRNA.	26					signal transduction					breast(4)|endometrium(1)	5						TCCTTCATTGACTGTGATCTA	0.353000													28	26					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146126628	146126628	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr6:146126628C>T	uc003qla.3	-	1	1113	c.914G>A	c.(913-915)gGt>gAt	p.G305D	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	305							ubiquitin-protein ligase activity|zinc ion binding	p.G305D(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTTTGAATCACCATGTAAATT	0.403000													13	58					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904193	21904193	+	RNA	SNP	C	C	G	rs9904221	by1000genomes	TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:21904193C>G	uc002gza.2	+	0		c.132C>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cagcctcaggcctgccaggac	0.672000													3	102					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42744034	42744034	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:42744034C>T	uc002iha.3	+	4	975	c.755C>T	c.(754-756)aCa>aTa	p.T252I	C17orf104_uc002igy.1_Missense_Mutation_p.T86I|C17orf104_uc002igz.3_Missense_Mutation_p.T86I|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	252										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AATATTCAGACAAATGATACA	0.353000													11	137					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63097959	63097959	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr15:63097959T>A	uc002alb.4	+	47	6638	c.6638T>A	c.(6637-6639)gTg>gAg	p.V2213E	TLN2_uc002alc.4_Missense_Mutation_p.V606E	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2213					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGGAAAGCCGTGTCAGATATG	0.512000													44	102					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56766301	56766301	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr3:56766301C>A	uc003dih.2	-	11	1399	c.1289G>T	c.(1288-1290)gGc>gTc	p.G430V	ARHGEF3_uc011bew.1_Missense_Mutation_p.G398V|ARHGEF3_uc011bev.1_Missense_Mutation_p.G369V|ARHGEF3_uc003dif.2_Missense_Mutation_p.G404V|ARHGEF3_uc003dig.2_Missense_Mutation_p.G398V|ARHGEF3_uc010hmy.1_Missense_Mutation_p.G196V|ARHGEF3_uc003dii.2_Missense_Mutation_p.G398V	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	398	PH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TCGCAGGGAGCCACCCAGCCT	0.552000													37	131					2.35958e-20	2.69667e-20	1	1	0
NBPF15	284565	broad.mit.edu	37	1	148594427	148594427	+	Missense_Mutation	SNP	G	G	C	rs150964009		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:148594427G>C	uc001esb.2	+	21	2962	c.1800G>C	c.(1798-1800)gaG>gaC	p.E600D	NBPF15_uc001esc.2_Missense_Mutation_p.E600D	NM_001170755	NP_775909	Q8N660	NBPFF_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 15 (NBPF15), transcript variant 1, mRNA.	600	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AAGTGGAAGAGCCTGAAGTCT	0.458000													98	371					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105925034	105925034	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:105925034A>T	uc001pja.3	-	3	1022	c.382T>A	c.(382-384)Ttg>Atg	p.L128M	KBTBD3_uc001pjb.3_Missense_Mutation_p.L128M|KBTBD3_uc009yxm.3_Missense_Mutation_p.L49M	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	124										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AATGATGACAACTGGAAGAAC	0.308000													25	50					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182446	57182446	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:57182446G>C	uc010rjr.2	-	9	1284	c.942C>G	c.(940-942)aaC>aaG	p.N314K	SLC43A3_uc001nke.3_Missense_Mutation_p.N200K|SLC43A3_uc001nkg.3_Missense_Mutation_p.N301K|SLC43A3_uc001nkh.3_Missense_Mutation_p.N301K|SLC43A3_uc009yme.3_Missense_Mutation_p.N301K|SLC43A3_uc001nki.3_Missense_Mutation_p.N301K|SLC43A3_uc009ymf.1_Missense_Mutation_p.N301K	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	301					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TCAGCAAGGAGTTGAGAGTGC	0.582000													17	42					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62366740	62366740	+	Silent	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:62366740T>A	uc002ygk.3	+	5	1470	c.1281T>A	c.(1279-1281)ccT>ccA	p.P427P	ZGPAT_uc002ygi.2_Silent_p.P407P|ZGPAT_uc010gkk.2_5'UTR|ZGPAT_uc010gkl.2_Silent_p.P407P|ZGPAT_uc002ygm.3_Silent_p.P398P|ZGPAT_uc002ygj.2_Silent_p.P407P|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	427					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTCAGGCTCCTGGGGCCCTAG	0.672000													14	35					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148836	34148836	+	Silent	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chrX:34148836C>T	uc004ddg.3	-	0	1612	c.1560G>A	c.(1558-1560)gaG>gaA	p.E520E		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	520										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCTTGGGAGGCTCCGAGCGGA	0.657000													42	20					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33840351	33840351	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr3:33840351A>C	uc003cfx.3	+	0	286	c.131A>C	c.(130-132)gAg>gCg	p.E44A	PDCD6IP_uc011axv.2_Missense_Mutation_p.E44A|PDCD6IP_uc003cfy.3_Missense_Mutation_p.E44A	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	44	BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CGCGCGGCGGAGGAGCTCAGC	0.692000													26	81					0	0	1	0	0
LOC729862	729862	broad.mit.edu	37	5	28927036	28927036	+	RNA	SNP	A	A	G	rs434405	by1000genomes	TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr5:28927036A>G	uc003jgz.1	+	0		c.60A>G								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		CTCAGTCTGCAGCCAAGACTC	0.577000													3	54					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53815462	53815462	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr15:53815462A>G	uc002acj.2	-	18	3248	c.3206T>C	c.(3205-3207)gTg>gCg	p.V1069A	WDR72_uc010bfh.1_Non-coding_Transcript	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	1069								p.D1068E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CATGTCCTCCACGTCTTGGAA	0.443000													12	44					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44203320	44203320	+	Silent	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:44203320T>A	uc002rtr.2	-	5	757	c.699A>T	c.(697-699)gcA>gcT	p.A233A	LRPPRC_uc010yob.1_Silent_p.A133A|LRPPRC_uc010faw.1_Silent_p.A207A	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	233					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CACTGAATACTGCCTCTGTAA	0.403000													14	30					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906681	12906681	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chrX:12906681C>A	uc004cvc.3	+	2	3193	c.3054C>A	c.(3052-3054)aaC>aaA	p.N1018K		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	1018	TIR.				I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GGCCAACAAACCCGCAAGCTC	0.498000													29	16					1.84765e-07	1.98978e-07	1	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90577520	90577520	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr6:90577520G>T	uc003pnr.3	+	7	4707	c.4511G>T	c.(4510-4512)aGt>aTt	p.S1504I	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.S1504I|CASP8AP2_uc011dzz.2_Missense_Mutation_p.S1504I	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1504					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AATTCAAGCAGTAAATCAAGT	0.423000													35	85					3.66854e-30	4.32502e-30	1	1	0
SPEN	23013	broad.mit.edu	37	1	16257911	16257911	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:16257911G>A	uc001axk.1	+	10	5380	c.5176G>A	c.(5176-5178)Gac>Aac	p.D1726N	SPEN_uc010obp.1_Missense_Mutation_p.D1685N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1726					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCATCAGGTGACCAGCCGCC	0.587000													11	113					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19890497	19890497	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:19890497T>A	uc010rdm.2	+	3	826	c.465T>A	c.(463-465)aaT>aaA	p.N155K	NAV2_uc001mpp.3_Missense_Mutation_p.N91K|NAV2_uc001mpr.4_Missense_Mutation_p.N155K|NAV2_uc021qew.1_Missense_Mutation_p.N155K	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	155	CH.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTGCTTGAATTTCCTGGCAG	0.438000													13	27					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13868446	13868446	+	Silent	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:13868446G>T	uc010gcf.3	-	7	796	c.714C>A	c.(712-714)gcC>gcA	p.A238A	SEL1L2_uc002woq.4_Silent_p.A99A|SEL1L2_uc010zrl.2_Silent_p.A238A|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	238						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AATAACTTAGGGCAACTTCAC	0.299000													16	40					0.00121646	0.00126152	1	1	0
ABCB4	5244	broad.mit.edu	37	7	87037472	87037472	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr7:87037472C>T	uc003uiv.1	-	24	3236	c.3160G>A	c.(3160-3162)Ggg>Agg	p.G1054R	ABCB4_uc003uiw.1_Missense_Mutation_p.G1054R|ABCB4_uc003uix.1_Missense_Mutation_p.G1007R	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1054	ABC transporter 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGGCTCAGCCCCTGAAGCACT	0.498000													21	87					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235872510	235872510	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:235872510G>A	uc001hxj.2	-	43	10199	c.10024C>T	c.(10024-10026)Cgg>Tgg	p.R3342W	LYST_uc001hxi.2_Missense_Mutation_p.R566W	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3342	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGAGCCTGCCGATGGATGAGG	0.483000													61	161					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74076354	74076354	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:74076354G>T	uc002jqn.2	+	4	476	c.393G>T	c.(391-393)agG>agT	p.R131S	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Intron	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	131					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TGGACTGGAGGGACCAGAGCC	0.662000													92	144					4.98428e-49	6.06782e-49	1	1	0
TIMM9	26520	broad.mit.edu	37	14	58878635	58878635	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr14:58878635T>C	uc010aph.3	-	1	244	c.29A>G	c.(28-30)cAg>cGg	p.Q10R	TIMM9_uc001xds.3_Missense_Mutation_p.Q10R|TIMM9_uc010api.3_Missense_Mutation_p.Q10R	NM_012460	NP_036592	Q9Y5J7	TIM9_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 9 homolog (yeast) (TIMM9), nuclear gene encoding mitochondrial protein, mRNA.	10					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			kidney(2)|skin(1)	3						CTGTTTTATCTGATCAGATTC	0.353000													25	31					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25656225	25656225	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:25656225A>T	uc002wva.3	-	3	2221	c.1699T>A	c.(1699-1701)Tcg>Acg	p.S567T	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.S535T|ZNF337_uc002wvc.3_Missense_Mutation_p.S567T	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.									p.S567S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTTCCCCCGAGTGTGTCCAC	0.473000													61	114					0	0	1	0	0
LGALS2	3957	broad.mit.edu	37	22	37966307	37966307	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr22:37966307C>T	uc003ata.3	-	3	474	c.362G>A	c.(361-363)gGc>gAc	p.G121D		NM_006498	NP_006489	P05162	LEG2_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 2 (LGALS2), mRNA.	121	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					GTTGAACCCGCCCCTTACGCT	0.498000													8	134					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:207025358A>G	uc002vbg.1	+	2	239	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(8)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													6	176					0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876316	139876316	+	Silent	SNP	A	A	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr5:139876316A>G	uc003lfs.2	+	14	2611	c.2457A>G	c.(2455-2457)gaA>gaG	p.E819E	ANKHD1-EIF4EBP3_uc003lfq.2_Silent_p.E838E|ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.E819E|ANKHD1-EIF4EBP3_uc003lft.1_Intron|ANKHD1-EIF4EBP3_uc003lfu.1_Silent_p.E299E|ANKHD1-EIF4EBP3_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	819						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATAGAAGAACTTAAAAAGA	0.368000													23	28					0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47781478	47781478	+	Silent	SNP	T	T	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:47781478T>A	uc002iph.1	-	5	726	c.639A>T	c.(637-639)acA>acT	p.T213T	SLC35B1_uc002ipj.1_Silent_p.T89T|SLC35B1_uc010wly.1_Silent_p.T213T	NM_005827	NP_005818	P78383	S35B1_HUMAN	Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.	213						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CCAGCAGCAATGTCGACCAAA	0.527000													81	266					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264092	1264092	+	Silent	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:1264092C>T	uc001lta.3	+	30	6041	c.5982C>T	c.(5980-5982)cgC>cgT	p.R1994R		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1994	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGACCCGCCTATCACAGA	0.637000													320	709					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837407	12837407	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr1:12837407A>T	uc001aui.3	+	2	1144	c.1117A>T	c.(1117-1119)Agc>Tgc	p.S373C		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	373										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTGCCCTGAGCCGCTGCTC	0.627000													170	435					0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42293875	42293875	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr13:42293875A>G	uc001uyj.3	-	25	3038	c.2968T>C	c.(2968-2970)Ttt>Ctt	p.F990L	KIAA0564_uc001uyk.3_Missense_Mutation_p.F990L	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	990						extracellular region	ATP binding|ATPase activity	p.F990F(1)		endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TCAGTCGGAAATTTCTGTATT	0.294000													27	26					0	0	1	0	0
LOC392232	392232	broad.mit.edu	37	8	73157131	73157131	+	RNA	SNP	C	C	T	rs17824282	by1000genomes	TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr8:73157131C>T	uc022avu.1	-	2		c.471G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		TGGAGGGGCGCAATCATGTTG	0.517000													3	47					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76891503	76891503	+	Silent	SNP	G	G	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:76891503G>A	uc001oyb.2	+	21	2942	c.2670G>A	c.(2668-2670)aaG>aaA	p.K890K	MYO7A_uc010rsl.2_Silent_p.K890K|MYO7A_uc010rsm.1_Silent_p.K879K|MYO7A_uc001oyc.2_Silent_p.K890K|MYO7A_uc001oyd.3_Silent_p.K230K|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.K101K	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	890					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGAAGGCCAAGGAGGAGGCCG	0.612000													27	58					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39435931	39435931	+	Silent	SNP	G	G	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:39435931G>T	uc003gua.3	+	1	1024	c.927G>T	c.(925-927)cgG>cgT	p.R309R	KLB_uc011byj.2_Silent_p.R309R	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	309	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGCCAAACCGGTCGGAAAACA	0.473000													89	196					7.18566e-60	8.84389e-60	1	1	0
G3BP2	9908	broad.mit.edu	37	4	76570830	76570830	+	Silent	SNP	A	A	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:76570830A>T	uc003hir.3	-	11	1398	c.1233T>A	c.(1231-1233)gcT>gcA	p.A411A	G3BP2_uc003his.3_Silent_p.A411A|G3BP2_uc003hit.3_Silent_p.A378A	NM_012297	NP_987101	Q9UN86	G3BP2_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 2 (G3BP2), transcript variant 2, mRNA.	411					Ras protein signal transduction|cytoplasmic sequestering of NF-kappaB|mRNA transport|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|RNA binding|nucleotide binding|receptor signaling complex scaffold activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GCTCTCTTGCAGCTCTTGTTT	0.453000													52	137					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344816	50344816	+	Missense_Mutation	SNP	A	A	C	rs104894331		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr12:50344816A>C	uc001rvn.3	+	0	293	c.203A>C	c.(202-204)aAc>aCc	p.N68T		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	68			N -> S (in ANDI).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	p.N68T(4)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCCACATCAACCCTGCCGTG	0.662000													8	84					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Silent	SNP	C	C	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr3:150877786C>T	uc003eyp.3	+	6	1134	c.1005C>T	c.(1003-1005)ggC>ggT	p.G335G	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Silent_p.G335G|MED12L_uc003eyo.3_Silent_p.G335G	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582000													43	46					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44005903	44005903	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr20:44005903C>A	uc002xny.3	-	2	284	c.203G>T	c.(202-204)aGg>aTg	p.R68M	DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	68					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						ATGCCAACACCTTTTGGCCAG	0.517000													36	76					4.67007e-22	5.39224e-22	1	1	0
TTL	150465	broad.mit.edu	37	2	113260589	113260589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:113260589delA	uc002thu.3	+	4	885	c.706delA	c.(706-708)aaafs	p.K236fs		NM_153712	NP_714923	Q8NG68	TTL_HUMAN	Homo sapiens tubulin tyrosine ligase (TTL), mRNA.	236	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTCCAAGACAAAACCTGCCA	0.388			T	ETV6	ALL								31	95	---	---	---	---					
GRB14	2888	broad.mit.edu	37	2	165365288	165365288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:165365288delT	uc002ucl.3	-	6	1432	c.891delA	c.(889-891)aaafs	p.K297fs	GRB14_uc010zcv.2_Frame_Shift_Del_p.K210fs	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	297	PH.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.K297fs*23(4)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTGCTCCATGTTTTTTTTTGC	0.373													10	126	---	---	---	---					
GAD1	2571	broad.mit.edu	37	2	171705820	171705820	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr2:171705820delA	uc002ugi.3	+	11	1566	c.1144delA	c.(1144-1146)atgfs	p.M382fs	GAD1_uc010fqc.3_Frame_Shift_Del_p.M1fs	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	382					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGGCTGCTCATGTCCAGGAA	0.537													50	88	---	---	---	---					
SEL1L3	23231	broad.mit.edu	37	4	25819805	25819806	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr4:25819805_25819806insT	uc003gru.4	-	8	1670_1671	c.1518_1519insA	c.(1516-1521)aaacacfs	p.K506fs		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	506						integral to membrane	binding	p.K506Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGCTGGGGTGTTTGTCTTTCA	0.550													49	149	---	---	---	---					
CENPK	64105	broad.mit.edu	37	5	64824334	64824341	+	Frame_Shift_Del	DEL	CCCAAGGT	CCCAAGGT	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr5:64824334_64824341delCCCAAGGT	uc003jts.3	-	8	747_754	c.535_542delACCTTGGG	c.(535-543)accttgggcfs	p.T179fs	CENPK_uc003jtu.3_Frame_Shift_Del_p.T179fs	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	Homo sapiens centromere protein K (CENPK), mRNA.	179					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TAGAAACTCGCCCAAGGTACTCAAGAGT	0.264													8	57	---	---	---	---					
RGMB	285704	broad.mit.edu	37	5	98115590	98115591	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr5:98115590_98115591delGG	uc003knc.3	+	3	968_969	c.566_567delGG	c.(565-567)aggfs	p.R189fs	RGMB_uc003knb.2_Frame_Shift_Del_p.R189fs	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	148					BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent	ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		GCTGGAGCCAGGGAACACAGGA	0.510													65	140	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327907	16327909	+	In_Frame_Del	DEL	TGA	TGA	-	rs59310777	by1000genomes	TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr6:16327907_16327909delTGA	uc003nbt.3	-	7	1604_1606	c.633_635delTCA	c.(631-636)catcag>cag	p.H211del	ATXN1_uc010jpi.3_In_Frame_Del_p.H211del|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793).	RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association	p.H209_H211delHQH(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgctgctgatgctgatgct	0.670													3	5	---	---	---	---					
SLC25A40	55972	broad.mit.edu	37	7	87466048	87466048	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr7:87466048delA	uc003uje.3	-	10	1276	c.901delT	c.(901-903)tcafs	p.S301fs		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	301					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TTTTTACCTGAAAATAATCCG	0.264													21	92	---	---	---	---					
TRIM55	84675	broad.mit.edu	37	8	67064722	67064722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr8:67064722delT	uc003xvv.3	+	7	1322	c.1096delT	c.(1096-1098)tttfs	p.F366fs	TRIM55_uc003xvu.3_Frame_Shift_Del_p.F366fs|TRIM55_uc003xvw.3_Frame_Shift_Del_p.F366fs|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	366						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCAAACAGAGTTTCCAGGAGA	0.498													17	27	---	---	---	---					
TFAM	7019	broad.mit.edu	37	10	60148569	60148570	+	Frame_Shift_Ins	INS	-	-	A	rs140210748		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr10:60148569_60148570insA	uc001jkf.3	+	3	563_564	c.431_432insA	c.(430-432)acafs	p.T144fs	TFAM_uc001jkg.3_Non-coding_Transcript	NM_003201	NP_003192	Q00059	TFAM_HUMAN	Homo sapiens transcription factor A, mitochondrial (TFAM), nuclear gene encoding mitochondrial protein, mRNA.	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	p.M143I(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAAGCTATGACAAAAAAAAAAG	0.267													2	4	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129905112	129905113	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr10:129905112_129905113delTG	uc001lke.3	-	12	5186_5187	c.4991_4992delCA	c.(4990-4992)acafs	p.T1664fs	MKI67_uc001lkf.3_Frame_Shift_Del_p.T1304fs|MKI67_uc009yav.1_Frame_Shift_Del_p.T1239fs|MKI67_uc009yaw.1_Frame_Shift_Del_p.T814fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1664	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGTTGGCTCTGTGTGTGTGTG	0.510													9	176	---	---	---	---					
TUT1	64852	broad.mit.edu	37	11	62343357	62343370	+	Frame_Shift_Del	DEL	GTAAAGGGATCGGC	GTAAAGGGATCGGC	-	rs149885942		TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr11:62343357_62343370delGTAAAGGGATCGGC	uc001nto.2	-	8	1973_1986	c.1935_1948delGCCGATCCCTTTAC	c.(1933-1950)acgccgatccctttacccfs	p.T645fs	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	607					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGTGCAAGGGGTAAAGGGATCGGCGTAGCAGAGA	0.636													27	103	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573305	9573305	+	RNA	DEL	G	G	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr12:9573305delG	uc021qut.1	-	10		c.2093delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagggagCCCCCA	0.582													9	62	---	---	---	---					
NUP88	4927	broad.mit.edu	37	17	5312151	5312152	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr17:5312151_5312152insA	uc010vsx.2	-	4	847_848	c.758_759insT	c.(757-759)ctafs	p.L253fs	NUP88_uc002gbo.2_Frame_Shift_Ins_p.L253fs|NUP88_uc010cle.2_Frame_Shift_Ins_p.L252fs|NUP88_uc010vsy.2_Frame_Shift_Ins_p.L253fs	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	253					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTTGTCCAAATAGAGTCTTTGG	0.436													61	193	---	---	---	---					
BTBD2	55643	broad.mit.edu	37	19	2015365	2015365	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr19:2015365delT	uc002lup.1	-	0	338	c.338delA	c.(337-339)aacfs	p.N113fs		NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	113						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCACCTCGTTGTTGAAGAG	0.741													2	4	---	---	---	---					
ATP13A1	57130	broad.mit.edu	37	19	19762514	19762515	+	Frame_Shift_Ins	INS	-	-	TGCAGGA			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chr19:19762514_19762515insTGCAGGA	uc002nnh.4	-	16	2346_2347	c.2318_2319insTCCTGCA	c.(2317-2319)cagfs	p.Q773fs	ATP13A1_uc002nne.3_5'UTR|ATP13A1_uc002nnf.4_Frame_Shift_Ins_p.Q141fs|ATP13A1_uc002nng.3_Frame_Shift_Ins_p.Q655fs	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	773					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L772L(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGGAGGGAGGCTGCAGGATCAG	0.609													36	193	---	---	---	---					
IL9R	3581	broad.mit.edu	37	X	155239822	155239824	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-HE-A5NL-01A-11D-A26P-10	TCGA-HE-A5NL-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a441697c-4ca0-4eab-9b01-b9cb50223ce2	49cd5084-c2b5-47d4-b921-2f2316afe33a	g.chrX:155239822_155239824delCAA	uc004fnv.1	+	8	1493_1495	c.1314_1316delCAA	c.(1312-1317)agcaac>agc	p.N442del	IL9R_uc004fnu.1_3'UTR	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	442	Poly-Asn.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.N439S(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					gcagcagcagcaacaacaacaAC	0.635													8	170	---	---	---	---					
