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
SGOL1	151648	broad.mit.edu	37	3	20215936	20215936	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:20215936C>T	ENST00000412997.1	-	6	1438	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.E363K|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.E363K|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.E363K|SGOL1_ENST00000442720.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	363					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ACTTCAGACTCGTTGTTTTCT	0.413000													137	81					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89661800	89661800	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:89661800C>T	ENST00000268720.5	+	16	1683	c.1553C>T	c.(1552-1554)aCg>aTg	p.T518M	CPNE7_ENST00000319518.8_Missense_Mutation_p.T443M|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	518	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CTGATCCTGACGGACGGCGTG	0.647000													6	34					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639402	9639402	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:9639402C>T	ENST00000593003.1	-	6	1682	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	ZNF426_ENST00000535489.1_Missense_Mutation_p.R440Q|ZNF426_ENST00000253115.2_Missense_Mutation_p.R440Q			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACTGTGCGTTCGCATGTGATT	0.433000													29	62					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124748266	124748266	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:124748266T>A	ENST00000311127.4	-	2	450	c.383A>T	c.(382-384)cAg>cTg	p.Q128L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	128						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTCTTGATTCTGATAGAAGGT	0.478000													13	88					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367782	40367782	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:40367782G>A	ENST00000221347.6	-	29	13185	c.13178C>T	c.(13177-13179)gCg>gTg	p.A4393V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4393	TIL 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACGAAACCCGCGTCGCACTG	0.657000													10	142					0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89474711	89474711	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:89474711C>T	ENST00000370481.4	-	10	1798	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	526						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TCAATTGTTTCACATGTTCTT	0.433000													21	36					0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86245787	86245787	+	Silent	SNP	A	A	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:86245787A>T	ENST00000523953.1	-	6	1463	c.417T>A	c.(415-417)gcT>gcA	p.A139A	CA1_ENST00000523022.1_Silent_p.A139A|CA1_ENST00000256119.5_Silent_p.A139A|CA1_ENST00000522389.1_Silent_p.A26A|CA1_ENST00000432364.2_Silent_p.A139A|CA1_ENST00000542576.1_Silent_p.A139A|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Silent_p.A139A			P00915	CAH1_HUMAN	carbonic anhydrase I	139					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAAACCATCAGCCTTTGAGG	0.388000													10	40					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6997852	6997852	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr18:6997852C>T	ENST00000389658.3	-	33	4788	c.4695G>A	c.(4693-4695)ctG>ctA	p.L1565L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1565	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAAGTCATTCAGCAGCACAC	0.408000													29	52					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53692717	53692717	+	Silent	SNP	C	C	T	rs75427086	byFrequency	TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368000													3	34					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636032	73636032	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr13:73636032C>G	ENST00000377687.4	+	2	831	c.295C>G	c.(295-297)Cag>Gag	p.Q99E	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.Q8E	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	99					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCTGACACCTCAGCTTCCTCC	0.413000													45	87					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004339	187004339	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:187004339C>T	ENST00000296795.3	+	4	1603	c.1499C>T	c.(1498-1500)tCa>tTa	p.S500L	TLR3_ENST00000504367.1_Missense_Mutation_p.S223L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGCTCTCCTTCACCATTCCAG	0.463000													27	41					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577362	109577362	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:109577362C>G	ENST00000338432.7	+	2	271	c.152C>G	c.(151-153)tCt>tGt	p.S51C	ACACB_ENST00000377848.3_Missense_Mutation_p.S51C|ACACB_ENST00000377854.5_Missense_Mutation_p.S51C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	51					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTTCCAGCCTCTGATAACTCA	0.562000													13	67					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7212906	7212906	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:7212906T>G	ENST00000361972.4	-	20	2618	c.2528A>C	c.(2527-2529)aAg>aCg	p.K843T	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K843T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	843	SAM.				regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGAAATATCTTGGCCAAGGG	0.557000													6	134					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29757111	29757111	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:29757111C>G	ENST00000256062.5	-	7	1399	c.926G>C	c.(925-927)aGc>aCc	p.S309T	TMTC1_ENST00000552618.1_Splice_Site_p.S479T|TMTC1_ENST00000381224.2_Splice_Site_p.S371T|TMTC1_ENST00000551659.1_Splice_Site_p.S479T|TMTC1_ENST00000539277.1_Splice_Site_p.S417T|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	417						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CAATAGTTACCTAGGCATGTA	0.493000													27	26					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47092405	47092405	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:47092405C>T	ENST00000218348.3	+	1	92	c.92C>T	c.(91-93)tCg>tTg	p.S31L	USP11_ENST00000377107.2_5'UTR	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	31					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTTCCAATCTCGCACAGCTGC	0.632000													24	8					0	0	1	0	0
ZNF417	147687	broad.mit.edu	37	19	58423471	58423471	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:58423471G>C	ENST00000312026.5	-	2	284	c.120C>G	c.(118-120)taC>taG	p.Y40*	ZNF417_ENST00000595559.1_Nonsense_Mutation_p.Y39*|CTD-2583A14.9_ENST00000602124.1_5'UTR|ZNF417_ENST00000536263.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCACATCACGGTACAAGCACC	0.498000													15	49					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30361933	30361933	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:30361933C>T	ENST00000327564.7	+	6	2123	c.2062C>T	c.(2062-2064)Ctc>Ttc	p.L688F	LRRC37B_ENST00000543378.2_Missense_Mutation_p.L579F|LRRC37B_ENST00000341671.7_Missense_Mutation_p.L661F|LRRC37B_ENST00000394713.3_Missense_Mutation_p.L610F|LRRC37B_ENST00000584368.1_Missense_Mutation_p.L622F			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	661						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTTCAGAATTCTCAATCGCAA	0.328000													23	38					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806893	2806893	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:2806893C>G	ENST00000520002.1	-	69	10888	c.10333G>C	c.(10333-10335)Gaa>Caa	p.E3445Q	CSMD1_ENST00000537824.1_Missense_Mutation_p.E3444Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3445Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E3268Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.E3268Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.E3267Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3445						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTCCTCTTTCAAGTCCAGAT	0.308000													9	16					0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75184908	75184908	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:75184908C>A	ENST00000417775.1	-	5	917	c.413G>T	c.(412-414)cGa>cTa	p.R138L	CRYZ_ENST00000370871.3_Missense_Mutation_p.R138L|CRYZ_ENST00000340866.5_Missense_Mutation_p.R138L|CRYZ_ENST00000370872.3_Intron	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	138					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	GATCAGAGCTCGATAAGCAGT	0.433000													17	49					5.03518e-11	5.37985e-11	1	1	0
RIMS2	9699	broad.mit.edu	37	8	105263382	105263382	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:105263382A>C	ENST00000507740.1	+	21	3500	c.3264A>C	c.(3262-3264)aaA>aaC	p.K1088N	RIMS2_ENST00000339750.2_Missense_Mutation_p.K210N|RIMS2_ENST00000436393.2_Missense_Mutation_p.K1292N|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1274N|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1113N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1336					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CACAAGGAAAAGTTTTACAGG	0.368000										HNSCC(12;0.0054)			4	56					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1880923	1880923	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:1880923G>A	ENST00000505790.1	-	4	779	c.323C>T	c.(322-324)tCg>tTg	p.S108L	IRX4_ENST00000231357.2_Missense_Mutation_p.S108L|IRX4_ENST00000513692.1_Missense_Mutation_p.S108L|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	108					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CGCAGATCCCGAACCATCCTT	0.632000													10	35					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5707774	5707774	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:5707774G>A	ENST00000360614.3	-	6	1153	c.996C>T	c.(994-996)agC>agT	p.S332S	LONP1_ENST00000540670.2_Silent_p.S136S|LONP1_ENST00000593119.1_Silent_p.S268S|LONP1_ENST00000585374.1_Silent_p.S218S|LONP1_ENST00000590729.1_Silent_p.S202S	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	332	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGCCCATGTCGCTCAGGTAGA	0.672000													17	52					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37383321	37383321	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:37383321G>A	ENST00000520965.1	-	6	681	c.615C>T	c.(613-615)ttC>ttT	p.F205F	ZNF829_ENST00000391711.3_Silent_p.F124F|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACTTGACTGAAATGTCTCT	0.338000													107	29					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103359184	103359184	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:103359184G>C	ENST00000520539.1	-	6	1129	c.523C>G	c.(523-525)Cag>Gag	p.Q175E	UBR5_ENST00000220959.4_Missense_Mutation_p.Q175E|UBR5_ENST00000521922.1_Missense_Mutation_p.Q175E	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	175					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGCTGGGGCTGACTGCCCAAA	0.532000													35	180					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888262	3888262	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:3888262C>T	ENST00000319331.3	+	2	2698	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	646						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATTAGCCTTGCGTCCATTGCT	0.418000													15	110					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185151187	185151187	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:185151187C>T	ENST00000367500.4	+	7	1301	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	SWT1_ENST00000367501.3_Missense_Mutation_p.S379F	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	379										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CATTCCTCCTCTGGTATACCC	0.343000													8	25					0	0	1	0	0
ALKBH6	84964	broad.mit.edu	37	19	36501541	36501541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:36501541G>A	ENST00000486389.1	-	5	1022	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	ALKBH6_ENST00000485128.1_Nonsense_Mutation_p.Q115*|ALKBH6_ENST00000252984.7_Silent_p.I127I|ALKBH6_ENST00000378875.3_Silent_p.I155I|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_5'UTR			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	115						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCCCAGGCTGATGGTGCTGA	0.672000													9	88					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77134134	77134134	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:77134134G>C	ENST00000563290.1	-	5	429	c.334C>G	c.(334-336)Cga>Gga	p.R112G	SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.R112G			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	111						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCTACTGCTCGGCGAAGATTA	0.403000													9	48					0	0	1	0	0
TERC	7012	broad.mit.edu	37	3	169482441	169482441	+	RNA	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:169482441G>A	ENST00000602385.1	-	0	407					NR_001566.1																						ACAGCTCAGGGAATCGCGCCG	0.687000									Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				7	9					0	0	1	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77228025	77228025	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:77228025G>A	ENST00000237642.6	+	1	847	c.103G>A	c.(103-105)Gat>Aat	p.D35N	FAM47E_ENST00000515604.1_Intron|FAM47E-STBD1_ENST00000539752.1_Intron	NM_003943.4	NP_003934.1																					GAAGGACGGGGATGCGGAGCA	0.697000											OREG0016232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	1	0	0
BHLHE41	79365	broad.mit.edu	37	12	26277742	26277742	+	Translation_Start_Site	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:26277742G>C	ENST00000242728.4	-	0	318					NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41						cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						CCTCTGTTTCGATTTTTGGGG	0.483000													11	452					0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37129831	37129831	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:37129831C>T	ENST00000588268.1	-	6	1643	c.1416G>A	c.(1414-1416)atG>atA	p.M472I	ZNF461_ENST00000360357.4_Missense_Mutation_p.M449I|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACCACATATCATGCATTCAT	0.398000													10	85					0	0	1	0	0
RP11-85G18.6	0	broad.mit.edu	37	10	27535186	27535186	+	RNA	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:27535186G>C	ENST00000574842.1	+	0	255																											CTTTAAGCCAGAGTGGCTGTC	0.448000													15	6					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236730029	236730029	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:236730029C>T	ENST00000366582.3	-	30	4339	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1328K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1409					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGAATTTCTCTGCACCCAGT	0.493000													16	20					0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41143094	41143094	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr21:41143094G>A	ENST00000380588.4	+	4	773	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	224	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GAGCCTGAAGGCCCGCAAGTC	0.493000													21	111					0	0	1	0	0
C9orf9	11092	broad.mit.edu	37	9	135763737	135763737	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr9:135763737C>T	ENST00000372136.3	+	4	855	c.408C>T	c.(406-408)ggC>ggT	p.G136G	C9orf9_ENST00000356311.5_Silent_p.G136G|C9orf9_ENST00000350499.6_Silent_p.G136G			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	136								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		ACTACGGCGGCGTGGTCAGCC	0.617000													4	35					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36383154	36383154	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr13:36383154C>G	ENST00000255448.4	-	13	1978		c.e13+1		DCLK1_ENST00000360631.3_Splice_Site|DCLK1_ENST00000379893.1_Splice_Site	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1						cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTTGCCCATACCCACGGAATG	0.478000													5	20					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544696	82544696	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:82544696T>G	ENST00000333891.9	-	7	12943	c.12606A>C	c.(12604-12606)aaA>aaC	p.K4202N	PCLO_ENST00000423517.2_Missense_Mutation_p.K4202N|PCLO_ENST00000437081.1_Missense_Mutation_p.K922N	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGGTGAAAATTTTGACATTT	0.383000													13	21					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171916477	171916477	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:171916477G>A	ENST00000360843.3	-	5	830	c.426C>T	c.(424-426)gtC>gtT	p.V142V	TLK1_ENST00000521943.1_Intron|TLK1_ENST00000431350.2_Intron|TLK1_ENST00000486857.1_Intron|TLK1_ENST00000434911.2_Intron|TLK1_ENST00000442919.2_Intron			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	136					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						aggactggaagaccgggaggt	0.547000													25	34					0	0	1	0	0
ODF3L2	284451	broad.mit.edu	37	19	463920	463920	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:463920G>A	ENST00000315489.4	-	4	1029	c.794C>T	c.(793-795)tCg>tTg	p.S265L	ODF3L2_ENST00000382696.3_Missense_Mutation_p.S229L	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	265										large_intestine(1)|lung(2)	3						GGCCCGTTTCGAGTGGCGGAT	0.706000													6	13					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161025759	161025759	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:161025759G>C	ENST00000283249.2	-	7	1218	c.981C>G	c.(979-981)atC>atG	p.I327M	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.I327M|ITGB6_ENST00000428609.2_Missense_Mutation_p.I285M|ITGB6_ENST00000409967.2_Missense_Mutation_p.I327M	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	327	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTACAGCGAAGATCAATAACA	0.294000													90	90					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33163152	33163152	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:33163152G>C	ENST00000374680.3	-	8	1547	c.1336C>G	c.(1336-1338)Ctg>Gtg	p.L446V	RXRB_ENST00000374685.4_Missense_Mutation_p.L450V|RXRB_ENST00000544186.1_Missense_Mutation_p.L260V	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	446	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGATTAAACAGAATGATTGCC	0.527000													36	37					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41265447	41265447	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:41265447G>A	ENST00000243563.3	+	3	908	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	120						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGAGACCCCGGCCACCAAGAA	0.652000													10	120					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180772532	180772532	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:180772532G>A	ENST00000367590.4	+	4	430	c.232G>A	c.(232-234)Gca>Aca	p.A78T	XPR1_ENST00000367589.3_Missense_Mutation_p.A78T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	78	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGAGAAGCTCGCAGAGGCTCA	0.423000													8	62					0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116966910	116966910	+	Silent	SNP	T	T	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:116966910T>A	ENST00000368576.3	-	9	1899	c.1656A>T	c.(1654-1656)gcA>gcT	p.A552A		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	552						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CACCCTCTACTGCCAATATCT	0.318000													19	65					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57876521	57876521	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:57876521C>A	ENST00000262644.4	-	5	1169	c.911G>T	c.(910-912)gGt>gTt	p.G304V		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	304						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GATGGCATTACCAGCACATAT	0.418000													17	17					1.5739e-10	1.66675e-10	1	1	0
ZNF513	130557	broad.mit.edu	37	2	27600966	27600966	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:27600966T>C	ENST00000323703.6	-	4	1270	c.1072A>G	c.(1072-1074)Aaa>Gaa	p.K358E	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.K296E	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	358					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAAGCCTTTGTCACTGGGG	0.657000													15	64					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019877	56019877	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:56019877A>C	ENST00000303059.3	+	1	202	c.202A>C	c.(202-204)Acc>Ccc	p.T68P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CTATCTCTTTACCTTGATAGG	0.378000													8	87					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3598711	3598711	+	RNA	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:3598711G>A	ENST00000301749.7	-	0	3051				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCCACTGCGATGGCCCGGG	0.652000													6	6					0	0	1	0	0
LYG1	129530	broad.mit.edu	37	2	99901258	99901258	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:99901258G>A	ENST00000409448.1	-	7	675	c.359C>T	c.(358-360)tCc>tTc	p.S120F	LYG1_ENST00000308528.4_Missense_Mutation_p.S120F			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	120					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						ACTAATCCAGGATGTGGGAGC	0.542000													11	16					0	0	1	0	0
BORA	79866	broad.mit.edu	37	13	73327873	73327873	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr13:73327873G>A	ENST00000390667.5	+	11	1625	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	BORA_ENST00000377815.3_Missense_Mutation_p.D440N	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	510					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										CAATATTATGGATACAGTTGG	0.333000													8	71					0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82500669	82500669	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:82500669G>A	ENST00000282268.3	+	6	849	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	XRCC4_ENST00000396027.4_Missense_Mutation_p.R225Q|XRCC4_ENST00000338635.6_Missense_Mutation_p.R225Q|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000511817.1_Missense_Mutation_p.R225Q	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	225					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		ACTGCTGACCGAGATCCAGTC	0.423000								Non-homologous end-joining					6	35					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38414169	38414169	+	Silent	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:38414169C>G	ENST00000207870.3	+	10	879	c.789C>G	c.(787-789)gtC>gtG	p.V263V	XYLB_ENST00000542835.1_Silent_p.V126V	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	263					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CCTACTACGTCCAGCGCTACG	0.577000													25	52					0	0	1	0	0
MIR181A1	406995	broad.mit.edu	37	1	198828274	198828274	+	RNA	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:198828274C>G	ENST00000385026.1	-	0	8					NR_029626.1																						GAAGCAACCTCAAAACTCAGA	0.383000													37	57					0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48214673	48214673	+	Silent	SNP	A	A	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:48214673A>G	ENST00000298396.2	-	2	64	c.12T>C	c.(10-12)gaT>gaC	p.D4D	SSX3_ENST00000376893.3_Silent_p.D4D	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CAAAGGTGTCATCTCCGTTCA	0.517000													5	76					0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9957397	9957397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:9957397G>A	ENST00000295980.3	+	17	2027	c.1910G>A	c.(1909-1911)tGg>tAg	p.W637*	IL17RE_ENST00000421412.1_Nonsense_Mutation_p.W670*|IL17RE_ENST00000383814.3_Nonsense_Mutation_p.W637*|IL17RE_ENST00000454190.2_3'UTR	NM_153483.2	NP_705616.2	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	637						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GCCACCAGCTGGGGCCGCCTT	0.751000													6	13					0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16767292	16767292	+	Silent	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:16767292C>G	ENST00000337132.5	+	1	126	c.36C>G	c.(34-36)gtC>gtG	p.V12V	NECAP2_ENST00000443980.2_Silent_p.V12V|NECAP2_ENST00000504551.2_Silent_p.V12V|NECAP2_ENST00000406746.1_Silent_p.V12V|NECAP2_ENST00000486390.1_3'UTR|NECAP2_ENST00000457722.2_Intron	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	12					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCTGTGTCAAGCCTGACG	0.627000											OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	28					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717989	142717989	+	Silent	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:142717989G>T	ENST00000381779.4	-	2	1161	c.936C>A	c.(934-936)atC>atA	p.I312I	SLITRK4_ENST00000356928.1_Silent_p.I312I|SLITRK4_ENST00000338017.4_Silent_p.I312I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	312						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CGATTCCAGAGATCTTGGAAG	0.468000													21	38					1.96292e-10	2.07262e-10	1	1	0
STXBP5L	9515	broad.mit.edu	37	3	121100143	121100143	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:121100143A>C	ENST00000273666.6	+	23	2694	c.2423A>C	c.(2422-2424)aAc>aCc	p.N808T	STXBP5L_ENST00000472879.1_Missense_Mutation_p.N784T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.N782T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.N808T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.N784T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	808					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCATAGAAAACCGAGAAAAT	0.289000													19	64					0	0	1	0	0
OLFML1	283298	broad.mit.edu	37	11	7530939	7530939	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:7530939G>A	ENST00000329293.3	+	3	1123	c.729G>A	c.(727-729)aaG>aaA	p.K243K	OLFML1_ENST00000530135.1_Silent_p.K243K|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	243	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACCTGCAGAAGAGGACTGTGG	0.468000													6	26					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131148049	131148049	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:131148049C>T	ENST00000352689.6	+	13	1639	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	MKLN1_ENST00000421797.2_Silent_p.L441L|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	533					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TATCTGGACTCAGCAAAGATA	0.348000													65	116					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63544456	63544456	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:63544456T>C	ENST00000299178.2	-	1	266	c.161A>G	c.(160-162)gAg>gGg	p.E54G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	54					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CACGGCGATCTCCAGTTTGGC	0.701000													7	38					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139876704	139876704	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:139876704C>T	ENST00000297183.6	+	15	2969	c.2845C>T	c.(2845-2847)Ctt>Ttt	p.L949F	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L949F|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000360839.2_Missense_Mutation_p.L949F	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAAATTCTCTTGAACTTCA	0.433000													53	67					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105601821	105601821	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:105601821G>A	ENST00000551662.1	-	7	490	c.420C>T	c.(418-420)gtC>gtT	p.V140V	APPL2_ENST00000539978.2_Intron|APPL2_ENST00000258530.3_Intron			Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	138	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAAATAAACAGACATCTGAAC	0.463000													28	62					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:7579591C>T	ENST00000420246.2	-	4	229		c.e4-1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAAGGGGGACTGTAGATGGG	0.592000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			103	41					0	0	1	0	0
THAP7	80764	broad.mit.edu	37	22	21354421	21354421	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr22:21354421G>A	ENST00000215742.4	-	4	852	c.678C>T	c.(676-678)atC>atT	p.I226I	THAP7_ENST00000399133.2_Silent_p.I226I	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	226					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTTCATTCTGGATGTAGGCTC	0.667000													3	5					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347738	89347738	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:89347738C>G	ENST00000301030.4	-	9	5672	c.5212G>C	c.(5212-5214)Gac>Cac	p.D1738H	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1738H	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1738						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCGGCGCAGTCGAACACGAGG	0.667000													5	86					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114193678	114193678	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:114193678G>C	ENST00000369615.1	+	14	2352	c.2290G>C	c.(2290-2292)Gat>Cat	p.D764H	MAGI3_ENST00000369611.4_Missense_Mutation_p.D764H|MAGI3_ENST00000369617.4_Missense_Mutation_p.D789H|MAGI3_ENST00000307546.9_Missense_Mutation_p.D764H	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	789	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTGAGAAAGATGGTCGGCT	0.428000													21	30					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726209	91726209	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:91726209G>A	ENST00000359028.2	+	41	10173	c.9948G>A	c.(9946-9948)atG>atA	p.M3316I	AKAP9_ENST00000358100.2_Missense_Mutation_p.M3262I|AKAP9_ENST00000356239.3_Missense_Mutation_p.M3312I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3316					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCGGGAAATGAGTAGTACCC	0.493000			T	BRAF	papillary thyroid								21	39					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48248440	48248440	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr18:48248440G>A	ENST00000400384.2	+	4	1860	c.824G>A	c.(823-825)cGc>cAc	p.R275H	MAPK4_ENST00000540640.1_Missense_Mutation_p.R64H|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	275	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGGCCTCTGCGCAAGCTGCTC	0.607000													4	9					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37747543	37747543	+	Silent	SNP	T	T	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr21:37747543T>C	ENST00000400485.1	+	17	2845	c.2769T>C	c.(2767-2769)gaT>gaC	p.D923D	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	923					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ATGTAGTTGATGAGATTTTAG	0.348000													11	148					0	0	1	0	0
NUDT22	84304	broad.mit.edu	37	11	63994387	63994387	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:63994387G>T	ENST00000279206.3	+	2	419	c.263G>T	c.(262-264)cGa>cTa	p.R88L	NUDT22_ENST00000441250.2_Missense_Mutation_p.R88L	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	88							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						ACTTCCTACCGAGACTTCCTG	0.667000													17	25					3.41278e-10	3.58242e-10	1	1	0
WDR6	11180	broad.mit.edu	37	3	49051434	49051434	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:49051434A>G	ENST00000395474.3	+	2	2837	c.2557A>G	c.(2557-2559)Agc>Ggc	p.S853G	WDR6_ENST00000608424.1_Missense_Mutation_p.S823G|WDR6_ENST00000448293.1_Missense_Mutation_p.S772G|WDR6_ENST00000415265.2_Missense_Mutation_p.S271G	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	823					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TCCGGACCCCAGCACCCCAAG	0.622000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	60					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958104	61958104	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:61958104G>A	ENST00000332800.7	-	4	617	c.484C>T	c.(484-486)Cct>Tct	p.P162S	GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron|GH2_ENST00000456543.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	161						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GGGGCCCCAGGATTGGGGATC	0.577000													17	76					0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536546	44536546	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:44536546A>G	ENST00000187879.8	+	4	881	c.719A>G	c.(718-720)cAc>cGc	p.H240R	ZNF222_ENST00000391960.3_Missense_Mutation_p.H280R|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GCTTTCATGCACAATTTCCAG	0.383000													11	358					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56712042	56712042	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:56712042C>T	ENST00000425394.2	-	25	3929	c.3553G>A	c.(3553-3555)Gag>Aag	p.E1185K	PAN2_ENST00000440411.3_Missense_Mutation_p.E1181K|PAN2_ENST00000257931.5_Missense_Mutation_p.E1184K|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Missense_Mutation_p.E1185K	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1185					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GTTTGGCCCTCAGGCTCAGGC	0.498000													13	69					0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50586119	50586119	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr13:50586119A>G	ENST00000378182.3	+	2	781	c.43A>G	c.(43-45)Agt>Ggt	p.S15G	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.S18G|TRIM13_ENST00000298772.5_Missense_Mutation_p.S18G|TRIM13_ENST00000457662.2_Missense_Mutation_p.S15G|TRIM13_ENST00000420995.2_Missense_Mutation_p.S15G	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	15					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TATTTGTTGTAGTCTGTTTGA	0.418000													28	91					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76803502	76803502	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:76803502G>A	ENST00000542802.3	-	14	2067	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S	USP36_ENST00000449938.2_Missense_Mutation_p.P242S|USP36_ENST00000312010.6_Missense_Mutation_p.P542S			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AAGTGCTGTGGAGGAGCTGGC	0.607000													10	25					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294259	124294259	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:124294259G>C	ENST00000356130.3	-	1	530	c.509C>G	c.(508-510)tCc>tGc	p.S170C		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AATGACGTTGGAATCACAGAA	0.517000													14	10					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33768282	33768282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:33768282C>A	ENST00000285013.6	-	6	2301	c.2026G>T	c.(2026-2028)Gaa>Taa	p.E676*	SLFN13_ENST00000542635.1_Nonsense_Mutation_p.E676*|SLFN13_ENST00000526861.1_Nonsense_Mutation_p.E676*|SLFN13_ENST00000534689.1_Nonsense_Mutation_p.E358*|SLFN13_ENST00000360502.2_Nonsense_Mutation_p.E358*|SLFN13_ENST00000533791.1_Nonsense_Mutation_p.E676*	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	676						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCCCCATCTTCAGTACGGAAA	0.433000													45	84					6.68952e-21	7.34415e-21	1	1	0
RHOB	388	broad.mit.edu	37	2	20647740	20647740	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:20647740G>A	ENST00000272233.4	+	1	906	c.514G>A	c.(514-516)Gag>Aag	p.E172K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	172					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGAGGTCTTCGAGACGGCCAC	0.687000													19	46					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52442080	52442080	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:52442080G>C	ENST00000460680.1	-	5	740	c.269C>G	c.(268-270)tCt>tGt	p.S90C	BAP1_ENST00000296288.5_Missense_Mutation_p.S90C	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	90					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AGTTGCACAAGAGTTGGGTAT	0.542000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							9	10					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73225652	73225652	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr9:73225652C>T	ENST00000377110.3	-	18	2747	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q	TRPM3_ENST00000357533.2_Missense_Mutation_p.R839Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.R682Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.R862Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.R697Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.R707Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.R707Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.R694Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.R835Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.R684Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.R694Q|TRPM3_ENST00000358082.3_Missense_Mutation_p.R697Q			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCCGTTGTTTCGTCCCAACAT	0.458000													29	58					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56567542	56567542	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:56567542G>C	ENST00000394023.3	-	17	1693	c.1588C>G	c.(1588-1590)Cac>Gac	p.H530D	SMARCC2_ENST00000550164.1_Missense_Mutation_p.H530D|SMARCC2_ENST00000267064.4_Missense_Mutation_p.H530D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.H530D	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	530					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ACATGGAAGTGAGAGGTAGGC	0.582000													22	79					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801024	39801024	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:39801024C>G	ENST00000564288.1	+	37	9541	c.8764C>G	c.(8764-8766)Cat>Gat	p.H2922D	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.H1362D|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.H2959D|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.H2927D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2927					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATTATTTCTCATATGAAGCA	0.328000													8	17					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713517	46713517	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:46713517C>T	ENST00000318962.4	-	24	2624	c.2541G>A	c.(2539-2541)acG>acA	p.T847T	ALS2CL_ENST00000415953.1_Silent_p.T847T|ALS2CL_ENST00000383742.3_Silent_p.T194T	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	847	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTGGGTCCACCGTGGTCCTGC	0.637000													25	46					0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	125139570	125139570	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:125139570A>C	ENST00000368417.1	+	6	633	c.573A>C	c.(571-573)caA>caC	p.Q191H	NKAIN2_ENST00000546092.1_Missense_Mutation_p.Q124H|NKAIN2_ENST00000545433.1_Missense_Mutation_p.Q176H	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	191						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATGGCTATCAAGGGCCTCAGA	0.373000													11	35					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	83635727	83635727	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:83635727C>T	ENST00000404547.1	+	1	631	c.631C>T	c.(631-633)Ccg>Tcg	p.P211S	NRG3_ENST00000372141.2_Missense_Mutation_p.P211S			P56975	NRG3_HUMAN	neuregulin 3	211	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTCCCGACCCCCGGTGCCAGG	0.662000													4	14					0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76582810	76582810	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:76582810G>A	ENST00000359707.4	-	4	1067	c.282C>T	c.(280-282)gtC>gtT	p.V94V	G3BP2_ENST00000395719.3_Silent_p.V94V|G3BP2_ENST00000357854.3_Silent_p.V94V|G3BP2_ENST00000502654.1_5'UTR	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	94	NTF2.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			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)			GCAAACCCATGACCTGGACAA	0.388000													40	58					0	0	1	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93157832	93157832	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:93157832G>C	ENST00000344636.3	+	10	980	c.796G>C	c.(796-798)Gac>Cac	p.D266H		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	266	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TGGAGGCTCAGACCCTGGTTT	0.368000													15	47					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6602111	6602111	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr9:6602111G>A	ENST00000321612.6	-	8	1303	c.1153C>T	c.(1153-1155)Cag>Tag	p.Q385*		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	385					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGATTTACCTGAGCTGTACAG	0.443000													113	145					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956049	42956049	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:42956049G>C	ENST00000541208.1	+	5	853	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.E162Q|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.E188Q			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGTCAAGGATGAGATGATCTC	0.378000													23	30					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446847	226446847	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:226446847C>T	ENST00000272907.6	+	4	1127	c.714C>T	c.(712-714)ccC>ccT	p.P238P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	238								p.P238P(1)									CGGGAGACCCCGAGGAAGAGG	0.592000													20	47					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20057559	20057559	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:20057559C>T	ENST00000396085.1	+	12	3184	c.2823C>T	c.(2821-2823)ctC>ctT	p.L941L	NAV2_ENST00000396087.3_Silent_p.L964L|NAV2_ENST00000527559.2_Silent_p.L893L|NAV2_ENST00000533917.1_Silent_p.L27L|NAV2_ENST00000311043.8_Silent_p.L27L|NAV2_ENST00000540292.1_Silent_p.L895L|NAV2_ENST00000349880.4_Silent_p.L941L|NAV2_ENST00000360655.4_Silent_p.L877L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	964						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						TAGACAACCTCAGCACTGATG	0.547000													17	17					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146269463	146269463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:146269463G>A	ENST00000367503.3	-	5	1404	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	SHPRH_ENST00000275233.7_Nonsense_Mutation_p.R336*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.R336*|SHPRH_ENST00000367505.2_Nonsense_Mutation_p.R336*	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	336	Helicase ATP-binding; first part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACAATCTCTCGCCATAAGAAG	0.294000													16	45					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													3	35					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33545249	33545249	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:33545249C>A	ENST00000242067.6	+	20	2811	c.2290C>A	c.(2290-2292)Caa>Aaa	p.Q764K	BBS9_ENST00000355070.2_Missense_Mutation_p.Q759K|BBS9_ENST00000354265.4_Missense_Mutation_p.Q729K|BBS9_ENST00000396127.2_Missense_Mutation_p.Q729K|BBS9_ENST00000350941.3_Missense_Mutation_p.Q724K	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	764					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGAAGACACTCAAGAATTGGT	0.478000									Bardet-Biedl syndrome				8	26					5.18039e-06	5.26844e-06	1	1	0
CNTN4	152330	broad.mit.edu	37	3	3097891	3097891	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:3097891G>C	ENST00000397461.1	+	24	3452	c.3068G>C	c.(3067-3069)aGg>aCg	p.R1023T	CNTN4_ENST00000427331.1_Missense_Mutation_p.R1023T|CNTN4_ENST00000448906.2_Missense_Mutation_p.R695T|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000358480.3_Missense_Mutation_p.R804T|CNTN4_ENST00000418658.1_Missense_Mutation_p.R1023T|CNTN4_ENST00000397459.2_Missense_Mutation_p.R695T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	1023					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTCACAGCTAGGTCCAGTTTA	0.403000													14	28					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200972881	200972881	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:200972881G>A	ENST00000332129.2	-	8	1361	c.1045C>T	c.(1045-1047)Ccc>Tcc	p.P349S	KIF21B_ENST00000461742.2_Missense_Mutation_p.P349S|KIF21B_ENST00000360529.5_Missense_Mutation_p.P349S|KIF21B_ENST00000422435.2_Missense_Mutation_p.P349S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	349					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGGTCTGAGGGGCTCACACAG	0.557000													10	41					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537382	27537382	+	RNA	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:27537382C>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGAATGTTCTCAATTGTTGTA	0.408000													169	90					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105420777	105420777	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:105420777C>T	ENST00000369774.4	-	8	844	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.G57R|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.G25R|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.G190R|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.G52R			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	190	SH3 1.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCACCTCCCCGGCCTGGAGG	0.642000													17	69					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70643044	70643044	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:70643044C>A	ENST00000449580.1	+	30	4578	c.4527C>A	c.(4525-4527)ttC>ttA	p.F1509L	TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Missense_Mutation_p.F1530L|TAF1_ENST00000373790.4_Missense_Mutation_p.F1509L|TAF1_ENST00000423759.1_Missense_Mutation_p.F1530L			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1509	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CGTTTTCTTTCATTCTGGACA	0.428000													42	11					3.38236e-24	3.7362e-24	1	1	0
MUC16	94025	broad.mit.edu	37	19	9047186	9047186	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:9047186G>T	ENST00000397910.4	-	5	34648	c.34445C>A	c.(34444-34446)cCa>cAa	p.P11482Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11484	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTCATATGGGGTCTCCGT	0.502000													17	72					6.33239e-15	6.86806e-15	1	1	0
C17orf66	256957	broad.mit.edu	37	17	34182150	34182150	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:34182150G>C	ENST00000311880.2	-	15	1778	c.1630C>G	c.(1630-1632)Cga>Gga	p.R544G	C17orf66_ENST00000592980.1_Missense_Mutation_p.R504G	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	544							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTATGTTTTCGTGGTTTCGAG	0.493000													5	120					0	0	1	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871235	100871235	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:100871235C>A	ENST00000539247.1	-	4	808	c.376G>T	c.(376-378)Gac>Tac	p.D126Y	ARMCX6_ENST00000538627.1_Missense_Mutation_p.D126Y|ARMCX6_ENST00000361910.4_Missense_Mutation_p.D126Y|ARMCX6_ENST00000497931.1_Intron	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	126						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						TTGGAGAGGTCCAGAACACAA	0.458000													7	77					5.18039e-06	5.26844e-06	1	1	0
USP34	9736	broad.mit.edu	37	2	61456758	61456758	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:61456758C>T	ENST00000398571.2	-	59	7200	c.7124G>A	c.(7123-7125)cGt>cAt	p.R2375H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2375					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GATACACAAACGCTGAAACAT	0.383000													31	106					0	0	1	0	0
SIRT7	51547	broad.mit.edu	37	17	79872379	79872379	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:79872379C>T	ENST00000328666.6	-	7	669	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	203	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGCACGTACTCCCTGTTGGGA	0.642000													23	48					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70905850	70905850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:70905850G>A	ENST00000264436.4	-	11	1813	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	ADD2_ENST00000430656.1_Nonsense_Mutation_p.R473*|ADD2_ENST00000355733.3_Nonsense_Mutation_p.R457*|ADD2_ENST00000407644.2_Nonsense_Mutation_p.R457*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.R457*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTCTTGGGTCGGGGGCTGCCC	0.597000													270	101					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73258010	73258010	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:73258010G>A	ENST00000579761.1	+	1	256	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	GGA3_ENST00000578348.1_Intron|MRPS7_ENST00000579002.1_5'UTR|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000582717.1_Intron|MRPS7_ENST00000245539.6_Missense_Mutation_p.R10Q|GGA3_ENST00000579743.1_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	10					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AAGGTTGCCCGAGGATGGTCG	0.697000													8	10					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	26998639	26998639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:26998639C>T	ENST00000376215.5	+	5	462	c.409C>T	c.(409-411)Cga>Tga	p.R137*	PDSS1_ENST00000376203.5_Nonsense_Mutation_p.R137*	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	137					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GAAAGCCTTTCGACCAATTAT	0.383000													26	407					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178937518	178937518	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:178937518G>C	ENST00000263967.3	+	12	2063	c.1906G>C	c.(1906-1908)Gta>Cta	p.V636L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	636	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATTCAGCTAGTACAGGtaaa	0.299000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	29					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11941735	11941735	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:11941735G>C	ENST00000339865.5	+	8	1561	c.798G>C	c.(796-798)gaG>gaC	p.E266D	USP47_ENST00000399455.2_Missense_Mutation_p.E354D|USP47_ENST00000527733.1_Missense_Mutation_p.E334D|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	354					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTCAGCCAGAGATTCTGGATG	0.308000													11	41					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2896391	2896391	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:2896391C>G	ENST00000355842.3	+	7	1537	c.674C>G	c.(673-675)tCt>tGt	p.S225C	ADD1_ENST00000398123.2_Missense_Mutation_p.S225C|ADD1_ENST00000503455.2_Missense_Mutation_p.S225C|ADD1_ENST00000264758.7_Missense_Mutation_p.S225C|ADD1_ENST00000398129.1_Missense_Mutation_p.S225C|ADD1_ENST00000513328.2_Missense_Mutation_p.S225C|ADD1_ENST00000398125.1_Missense_Mutation_p.S225C|ADD1_ENST00000446856.1_Missense_Mutation_p.S225C			P35611	ADDA_HUMAN	adducin 1 (alpha)	225					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCTTACACTCTGCAATTTAT	0.493000													22	22					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280060	39280060	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:39280060G>C	ENST00000394014.1	-	1	359	c.315C>G	c.(313-315)tgC>tgG	p.C105W		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	105	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1).			keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGTCTGACAGCAGCTGGGGC	0.677000													19	61					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901328	24901328	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr14:24901328C>T	ENST00000251343.5	+	3	1000	c.861C>T	c.(859-861)ctC>ctT	p.L287L	KHNYN_ENST00000556842.1_Silent_p.L287L|KHNYN_ENST00000553935.1_Silent_p.L287L			O15037	KHNYN_HUMAN	KH and NYN domain containing	287										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AAGTGGCCCTCAGGCCACAGT	0.627000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	13					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133812133	133812133	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:133812133G>C	ENST00000285928.2	+	1	82	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	5							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGCGACCTCCGAGAGGGCTCT	0.612000													37	96					0	0	1	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38791380	38791380	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:38791380C>G	ENST00000449105.3	-	13	1913		c.e13-1		HNRNPLL_ENST00000608859.1_Splice_Site|HNRNPLL_ENST00000409328.1_Splice_Site|HNRNPLL_ENST00000409636.1_Splice_Site|HNRNPLL_ENST00000378915.3_Splice_Site					heterogeneous nuclear ribonucleoprotein L-like																		TTGGAACCATCTGTAAAAAGT	0.284000													16	59					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197763065	197763065	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:197763065G>C	ENST00000354764.4	-	6	950	c.836C>G	c.(835-837)tCa>tGa	p.S279*	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Nonsense_Mutation_p.S279*|PGAP1_ENST00000409188.1_Nonsense_Mutation_p.S237*	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTGGTCTGTTGAGACCCAGGT	0.348000													11	19					0	0	1	0	0
SYDE1	85360	broad.mit.edu	37	19	15224742	15224742	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:15224742G>C	ENST00000600252.1	+	5	2789	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	SYDE1_ENST00000600440.1_Missense_Mutation_p.E659Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.E726Q			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	726					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TCTGGAGAGAGAGCTCTCCAA	0.607000													22	94					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152069243	152069243	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:152069243G>C	ENST00000409598.4	-	11	2240	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C	SH3D19_ENST00000427414.2_Missense_Mutation_p.S322C|SH3D19_ENST00000514152.1_Missense_Mutation_p.S358C|SH3D19_ENST00000409252.2_Missense_Mutation_p.S358C|SH3D19_ENST00000455740.1_Missense_Mutation_p.S358C|SH3D19_ENST00000304527.4_Missense_Mutation_p.S358C|SH3D19_ENST00000424281.1_Missense_Mutation_p.S322C			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	358	Interaction with SH3GL1.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTCTTATTAGATCTTCTGGT	0.443000													30	42					0	0	1	0	0
MESDC2	23184	broad.mit.edu	37	15	81274463	81274463	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:81274463C>G	ENST00000261758.4	-	2	360	c.274G>C	c.(274-276)Gac>Cac	p.D92H		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	92	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TTTGAGAAGTCGACAGGTGCT	0.418000													21	128					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39010000	39010000	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:39010000G>C	ENST00000355481.4	+	67	10296	c.10165G>C	c.(10165-10167)Gag>Cag	p.E3389Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E3389Q|RYR1_ENST00000359596.3_Missense_Mutation_p.E3389Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3389					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGCCCAGGAGGGCGAGCT	0.657000													3	25					0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33862349	33862349	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:33862349C>T	ENST00000246186.6	+	9	1960	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|EDEM2_ENST00000540582.1_Intron|RP4-614O4.11_ENST00000444717.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	625					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTTCCAGTTCAAGAACAAGA	0.592000													9	20					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47281380	47281380	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:47281380G>A	ENST00000467728.1	+	2	1320	c.82G>A	c.(82-84)Gca>Aca	p.A28T	NR1H3_ENST00000481889.2_5'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.A28T|NR1H3_ENST00000405576.1_5'UTR|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.A28T|NR1H3_ENST00000405853.3_Missense_Mutation_p.A28T|NR1H3_ENST00000395397.3_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	28					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CGCACAGGATGCAAGCAGCCA	0.672000											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340031	100340031	+	RNA	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:100340031G>A	ENST00000341853.1	-	0	895					NR_003260.1																						CAGCAGCTCTGAGAAGATGAA	0.612000													11	23					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559174	1559174	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:1559174C>G	ENST00000381605.4	-	2	307	c.243G>C	c.(241-243)caG>caC	p.Q81H	SIRPB1_ENST00000381603.3_Missense_Mutation_p.Q81H|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.Q81H|SIRPB1_ENST00000262929.5_Missense_Mutation_p.Q80H	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	81	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCCTTCTTTCTGATTGTAGA	0.517000													13	108					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37390328	37390328	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:37390328C>T	ENST00000338564.5	-	3	531	c.85G>A	c.(85-87)Gcg>Acg	p.A29T	MEIS2_ENST00000559561.1_Missense_Mutation_p.A29T|MEIS2_ENST00000561208.1_Missense_Mutation_p.A29T|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000340545.5_Missense_Mutation_p.A16T|MEIS2_ENST00000559085.1_Missense_Mutation_p.A16T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A29T|MEIS2_ENST00000444725.1_Missense_Mutation_p.A29T|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_Missense_Mutation_p.A16T|MEIS2_ENST00000382766.2_Missense_Mutation_p.A29T	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	29					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGCCGCGGCGCGTGAGGGTCT	0.692000													7	16					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													8	8					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6456353	6456353	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:6456353G>A	ENST00000297056.6	-	11	1501	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	DAGLB_ENST00000425398.2_Silent_p.L315L|DAGLB_ENST00000436575.1_Silent_p.L403L|DAGLB_ENST00000421761.2_Silent_p.L188L|DAGLB_ENST00000428902.2_Silent_p.L317L	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	444					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CCCCGCCCCCGAGGCTGTGGC	0.627000													8	31					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524494	26524494	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:26524494C>T	ENST00000456354.2	+	5	671	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	202					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCTCGCCCGGATCATCCG	0.652000													20	71					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170019075	170019075	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:170019075C>T	ENST00000263816.3	-	63	12079	c.11794G>A	c.(11794-11796)Gaa>Aaa	p.E3932K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3932	LDL-receptor class A 36.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACTTATATTCATATTCTGTA	0.388000													9	50					0	0	1	0	0
RPL8	6132	broad.mit.edu	37	8	146015295	146015295	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:146015295G>T	ENST00000262584.3	-	6	900	c.668C>A	c.(667-669)tCc>tAc	p.S223Y	RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000394920.2_Missense_Mutation_p.S223Y|RPL8_ENST00000528957.1_Missense_Mutation_p.S223Y|RPL8_ENST00000527914.1_Missense_Mutation_p.S114Y	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	223					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		GCGGATGGTGGAGGGCTTGCC	0.607000													24	88					1.68575e-08	1.74909e-08	1	1	0
FGF9	2254	broad.mit.edu	37	13	22275368	22275368	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr13:22275368G>A	ENST00000382353.5	+	3	951	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	141					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		AGAACAGTTCGAAGAAAACTG	0.388000													9	25					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764623	138764623	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:138764623G>C	ENST00000242351.5	-	4	1380	c.1064C>G	c.(1063-1065)tCa>tGa	p.S355*	ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.S355*|ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.S355*	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	355					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GTTGGGGGCTGATGTTGAATT	0.542000													35	92					0	0	1	0	0
AQP5	362	broad.mit.edu	37	12	50355910	50355910	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:50355910C>T	ENST00000293599.6	+	1	258	c.110C>T	c.(109-111)tCg>tTg	p.S37L	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	37					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						AAGTGGCCGTCGGCGCTGCCT	0.667000													12	25					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580732	37580732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:37580732C>T	ENST00000217429.4	+	4	1458	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	443	Ser-rich.				cell division|mitosis	cytoplasm|spindle pole		p.Q473*(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GACCACTACTCAGACTGACAT	0.468000													21	52					0	0	1	0	0
ZNF680	340252	broad.mit.edu	37	7	63981739	63981739	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:63981739C>T	ENST00000309683.6	-	4	1544	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CCACATTCATCACATTTGTAG	0.363000													20	39					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90026313	90026313	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:90026313G>A	ENST00000268122.4	-	3	575	c.507C>T	c.(505-507)ctC>ctT	p.L169L	RHCG_ENST00000544600.1_Silent_p.L169L	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	169					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GCAGGTTAAGGAGAATGAACT	0.537000													31	74					0	0	1	0	0
SGPL1	8879	broad.mit.edu	37	10	72633176	72633176	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:72633176C>A	ENST00000373202.3	+	12	1328	c.1128C>A	c.(1126-1128)ttC>ttA	p.F376L		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	376					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	ACTATCAGTTCTTCGTCGATA	0.507000													30	65					1.13719e-10	1.20784e-10	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49672370	49672370	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:49672370G>A	ENST00000561648.1	-	4	746	c.693C>T	c.(691-693)ttC>ttT	p.F231F	ZNF423_ENST00000562871.1_Silent_p.F171F|ZNF423_ENST00000535559.1_Silent_p.F114F|ZNF423_ENST00000562520.1_Silent_p.F171F|ZNF423_ENST00000262383.2_Silent_p.F231F|ZNF423_ENST00000563137.2_Silent_p.F171F|ZNF423_ENST00000567169.1_Silent_p.F114F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	231					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGTGGAGGAGAAGCCGCGCT	0.582000													18	24					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65036196	65036196	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:65036196C>G	ENST00000265465.3	+	4	881	c.350C>G	c.(349-351)tCa>tGa	p.S117*	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	117	Pro/Ser/Thr-rich.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ACCACACCTTCAAAGGTAAGT	0.363000													31	65					0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	688404	688404	+	Silent	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:688404C>G	ENST00000382409.3	-	3	928	c.444G>C	c.(442-444)ctG>ctC	p.L148L	DEAF1_ENST00000338675.6_Silent_p.L148L	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	148					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGACGACAATCAGTGTCGCTT	0.612000													7	21					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195063206	195063206	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:195063206C>T	ENST00000326793.6	-	6	752	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	174	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ATACCTGAAGCACATAATCGA	0.368000													37	39					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678167	73678167	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:73678167G>A	ENST00000264448.6	+	8	4621	c.4510G>A	c.(4510-4512)Gct>Act	p.A1504T	ALMS1_ENST00000377715.1_Missense_Mutation_p.A1504T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1462T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1504	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGTTTCAGTTGCTCCTGGACC	0.483000													102	40					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169435106	169435106	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:169435106G>C	ENST00000236137.5	-	6	1711	c.1475C>G	c.(1474-1476)tCt>tGt	p.S492C	SLC19A2_ENST00000367804.4_Missense_Mutation_p.S291C	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	492					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GGTTACTTGAGAACTTGATTG	0.413000													56	65					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804440	22804440	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr18:22804440C>G	ENST00000361524.3	-	4	3590	c.3442G>C	c.(3442-3444)Gag>Cag	p.E1148Q	ZNF521_ENST00000538137.2_Missense_Mutation_p.E1148Q|ZNF521_ENST00000584787.1_Missense_Mutation_p.E928Q	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1148					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTTCAGACTCAAACTTAACG	0.517000			T	PAX5	ALL								33	24					0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96127784	96127784	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:96127784C>G	ENST00000296754.3	-	8	1557	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	ERAP1_ENST00000443439.2_Missense_Mutation_p.D434H	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	434					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GAAACATCATCAAACATCTCC	0.388000													10	34					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70064691	70064691	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:70064691G>C	ENST00000282570.3	+	2	524	c.273G>C	c.(271-273)aaG>aaC	p.K91N	GMCL1_ENST00000468386.2_3'UTR	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	91					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						AAAAATTAAAGAGTACATCTA	0.244000													8	5					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33643548	33643548	+	Missense_Mutation	SNP	C	C	A	rs138321976		TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:33643548C>A	ENST00000504830.1	-	10	1842	c.1507G>T	c.(1507-1509)Gtg>Ttg	p.V503L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V503L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	503	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V503L(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAGCCCTTCACGGAGCACCAC	0.468000										HNSCC(64;0.19)			14	44					4.93089e-13	5.29997e-13	1	1	0
DMP1	1758	broad.mit.edu	37	4	88583927	88583927	+	Missense_Mutation	SNP	G	G	A	rs147275271	byFrequency	TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:88583927G>A	ENST00000339673.6	+	6	1096	c.997G>A	c.(997-999)Gta>Ata	p.V333I	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.V317I	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	333					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGCCAAAACGTAGATGGTCC	0.547000													18	30					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143577	61143577	+	RNA	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:61143577G>A	ENST00000475015.1	-	0	761				C20orf166-AS1_ENST00000412495.1_RNA																							AGGGGATTGGGATGCCGCCTG	0.652000													5	27					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128640615	128640615	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:128640615C>T	ENST00000393245.1	-	7	1252	c.879G>A	c.(877-879)ctG>ctA	p.L293L	TNPO3_ENST00000265388.5_Silent_p.L293L|TNPO3_ENST00000471166.1_Silent_p.L293L|TNPO3_ENST00000471234.1_Silent_p.L293L|TNPO3_ENST00000482320.1_Silent_p.L227L	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	293					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGCAGTAATTCAGAACTCTGT	0.383000													18	37					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													3	27					0.000602214	0.000605588	1	1	0
IRGQ	126298	broad.mit.edu	37	19	44097129	44097129	+	Silent	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:44097129G>C	ENST00000422989.1	-	3	1076	c.921C>G	c.(919-921)gcC>gcG	p.A307A	IRGQ_ENST00000602269.1_Silent_p.A307A|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.A20A	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	307							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TCTCAGTGGGGGCCCCAGGGG	0.692000													4	78					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113448262	113448262	+	Silent	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:113448262G>T	ENST00000342315.4	+	11	2347	c.2133G>T	c.(2131-2133)ctG>ctT	p.L711L	OAS2_ENST00000392583.2_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	711					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATAGAATCCTGAATAATAATT	0.398000													69	90					1.1794e-34	1.30681e-34	1	1	0
TAF3	83860	broad.mit.edu	37	10	8055784	8055784	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:8055784G>A	ENST00000344293.5	+	6	2865	c.2659G>A	c.(2659-2661)Gat>Aat	p.D887N		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	887					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TGACGACTGCGATGACTGGTA	0.567000													12	337					0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128618238	128618238	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:128618238G>C	ENST00000308982.7	+	7	823	c.742G>C	c.(742-744)Gaa>Caa	p.E248Q	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	248						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						ATTCATAGTAGAAAGAGACTT	0.453000													21	68					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46889544	46889544	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr18:46889544C>T	ENST00000269445.6	-	6	938	c.481G>A	c.(481-483)Gat>Aat	p.D161N	DYM_ENST00000578396.1_Missense_Mutation_p.D6N|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	161						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGTGGAATATCAGTGATCAAC	0.358000													42	31					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40369467	40369467	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:40369467C>G	ENST00000293328.3	-	10	1353	c.1185G>C	c.(1183-1185)gaG>gaC	p.E395D		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	395					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGTTCAAGATCTCGCCACTGT	0.493000													13	52					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4716886	4716886	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:4716886G>A	ENST00000302640.8	+	22	3038	c.2688G>A	c.(2686-2688)gcG>gcA	p.A896A	ITPR1_ENST00000456211.2_Silent_p.A896A|ITPR1_ENST00000357086.4_Silent_p.A911A|ITPR1_ENST00000443694.2_Silent_p.A896A|ITPR1_ENST00000423119.2_Silent_p.A911A|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.A911A	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	911					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCAAGATGGCGAAAGGAGAAG	0.443000													12	139					0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31803072	31803072	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr21:31803072G>A	ENST00000334068.2	+	1	501	c.479G>A	c.(478-480)tGc>tAc	p.C160Y		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	160						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CAATTCACCTGCTAAATTTCT	0.408000													10	96					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383989	12383989	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:12383989G>C	ENST00000356109.5	-	5	1343	c.1225C>G	c.(1225-1227)Cta>Gta	p.L409V	ZNF44_ENST00000355684.5_Missense_Mutation_p.L361V	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GGTTTCTCTAGAGTGTGAGTT	0.423000													41	53					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39881454	39881454	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:39881454G>C	ENST00000260356.5	+	12	1990	c.1825G>C	c.(1825-1827)Gag>Cag	p.E609Q		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	609	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCACCGGTGTGAGAACACGGA	0.562000													28	40					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993329	24993329	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:24993329C>T	ENST00000323848.9	+	13	1967	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F	SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S563F|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.S560F	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	551	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.S551F(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGAAGTCCATCCCCACCACCC	0.522000													12	32					0	0	1	0	0
FGF8	2253	broad.mit.edu	37	10	103530308	103530308	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:103530308C>G	ENST00000347978.2	-	5	595	c.426G>C	c.(424-426)caG>caC	p.Q142H	FGF8_ENST00000346714.3_Missense_Mutation_p.Q131H|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000344255.3_Missense_Mutation_p.Q160H|FGF8_ENST00000320185.2_Missense_Mutation_p.Q171H	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	160					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACTTGGCATTCTGCAGCGCTG	0.602000													8	33					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595452	36595452	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:36595452G>A	ENST00000299440.5	+	2	710	c.598G>A	c.(598-600)Gtg>Atg	p.V200M		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	200	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCCGAGGAACGTGACCATGGA	0.547000									Familial Hemophagocytic Lymphohistiocytosis				12	32					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627000													5	176					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144557733	144557733	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:144557733G>A	ENST00000262577.5	-	5	1769	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	580					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCAACTGGACGCAGGCGGTTC	0.637000													5	6					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66909536	66909536	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:66909536G>A	ENST00000359742.4	-	7	827	c.587C>T	c.(586-588)aCg>aTg	p.T196M	GRIP1_ENST00000398016.3_Missense_Mutation_p.T196M|GRIP1_ENST00000286445.7_Missense_Mutation_p.T196M			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	196	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGGTTTGATCGTGCCCTCTCT	0.413000													22	42					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778898	84778898	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:84778898C>G	ENST00000219473.7	+	4	924	c.811C>G	c.(811-813)Cag>Gag	p.Q271E	USP10_ENST00000570191.1_Missense_Mutation_p.Q275E	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	271					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGCTGGGGCTCAGCCCTGCGT	0.587000													12	11					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45561681	45561681	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:45561681A>T	ENST00000347644.3	+	14	1579	c.1514A>T	c.(1513-1515)aAa>aTa	p.K505I	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	505					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TACAAGAACAAACGTCTCTCT	0.448000													14	25					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92170918	92170918	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr14:92170918G>C	ENST00000256343.3	-	7	750	c.594C>G	c.(592-594)ttC>ttG	p.F198L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	198					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TATCCACAATGAAGCCTAGTA	0.363000													88	18					0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8809244	8809244	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:8809244G>A	ENST00000316793.3	-	3	1254	c.630C>T	c.(628-630)atC>atT	p.I210I	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	210					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	TGACCGGCACGATGTAGACAG	0.637000													15	51					0	0	1	0	0
WNT1	7471	broad.mit.edu	37	12	49374388	49374388	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:49374388C>T	ENST00000293549.3	+	3	576	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	180					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		GCCGCCTCTTCGGCCGGGAGT	0.672000													3	2					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473928	53473928	+	RNA	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:53473928C>G	ENST00000600068.1	-	0	437				ZNF702P_ENST00000270443.4_RNA																							TTTCTTTCATCTTCTTGCCAC	0.388000													6	48					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53692748	53692748	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:53692748A>G	ENST00000371470.3	-	5	571	c.410T>C	c.(409-411)aTt>aCt	p.I137T	MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	137					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	p.I137T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTGTAATCCAATAAGACTGAA	0.378000													3	52					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171509467	171509467	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:171509467G>A	ENST00000176763.5	-	12	2195	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	618							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTTGCTGACGCTCCAGGTTC	0.547000													26	31					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101520629	101520629	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:101520629G>A	ENST00000422132.1	+	2	841	c.644G>A	c.(643-645)cGt>cAt	p.R215H	NXPE3_ENST00000477909.1_Missense_Mutation_p.R215H|NXPE3_ENST00000273347.5_Missense_Mutation_p.R215H|NXPE3_ENST00000491511.2_Missense_Mutation_p.R215H					neurexophilin and PC-esterase domain family, member 3																		AGTCTCTTCCGTTCAGGAAGA	0.483000													3	53					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126741616	126741616	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:126741616G>T	ENST00000251772.4	+	22	4317	c.4248G>T	c.(4246-4248)aaG>aaT	p.K1416N	PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1439N			Q9UIW2	PLXA1_HUMAN	plexin A1	1439					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGCAGAGAAGATGCTAACTA	0.572000													55	59					4.10029e-35	4.55729e-35	1	1	0
KMT2E	55904	broad.mit.edu	37	7	104752477	104752477	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:104752477C>T	ENST00000334877.4	+	26	4682	c.4148C>T	c.(4147-4149)tCt>tTt	p.S1383F	KMT2E_ENST00000311117.3_Missense_Mutation_p.S1425F|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1425F|KMT2E_ENST00000334914.7_Missense_Mutation_p.S480F|SRPK2_ENST00000493638.1_Intron					lysine (K)-specific methyltransferase 2E																		CGTAATTCATCTGAGCAACTT	0.438000													20	76					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585204	30585204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:30585204C>T	ENST00000562532.2	+	3	1858	c.1684C>T	c.(1684-1686)Cag>Tag	p.Q562*		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCCCCGGTTGCAGTACCGGAG	0.592000													8	65					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46722393	46722393	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr22:46722393G>A	ENST00000454366.1	+	9	1778	c.1566G>A	c.(1564-1566)ctG>ctA	p.L522L		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	503					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAAGCCTGCTGAGCGCATGGC	0.627000													22	18					0	0	1	0	0
RBP4	5950	broad.mit.edu	37	10	95353738	95353738	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:95353738G>A	ENST00000371467.1	-	5	729	c.410C>T	c.(409-411)tCc>tTc	p.S137F	RBP4_ENST00000371469.2_Missense_Mutation_p.S135F|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.S137F			P02753	RET4_HUMAN	retinol binding protein 4, plasma	137					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	GAGGCGGCAGGAGTACTGCAC	0.572000													27	38					0	0	1	0	0
DUSP5	1847	broad.mit.edu	37	10	112258061	112258061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:112258061C>A	ENST00000369583.3	+	1	466	c.182C>A	c.(181-183)tCg>tAg	p.S61*		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	61	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		ggcgcggTGTCGGCGCGCTAC	0.771000													3	7					0.004672	0.00468505	1	1	0
DCDC1	341019	broad.mit.edu	37	11	30937068	30937068	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:30937068C>G	ENST00000597505.1	-	25	3642	c.3643G>C	c.(3643-3645)Gaa>Caa	p.E1215Q	DCDC1_ENST00000339794.5_Missense_Mutation_p.E294Q|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTGCTGTCTTCCTGGTGTATC	0.448000													17	35					0	0	1	0	0
ZNF697	90874	broad.mit.edu	37	1	120166626	120166626	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:120166626G>A	ENST00000421812.2	-	3	459	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CGGAGGCTCCGGGATATGCTG	0.612000													14	11					0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203465232	203465232	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:203465232G>C	ENST00000367222.2	+	2	215	c.99G>C	c.(97-99)caG>caC	p.Q33H		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	33						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAGGAGCAGATGCCCAGGG	0.547000													5	30					0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122717471	122717471	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:122717471G>A	ENST00000267199.4	-	12	1597	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	RP11-512M8.5_ENST00000535844.1_Silent_p.L456L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	495					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCCGCACACTGAGCGGGGCAT	0.572000													4	14					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239167177	239167177	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:239167177C>T	ENST00000254657.3	-	15	2015	c.1736G>A	c.(1735-1737)tGc>tAc	p.C579Y	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	579	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CTGGTAGGAGCAGGTGGGCTG	0.577000													5	24					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501700	140501700	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:140501700C>A	ENST00000194152.1	+	1	120	c.120C>A	c.(118-120)agC>agA	p.S40R		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		40	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAGAGAGCGGCTCCTTTG	0.537000													16	35					6.72482e-11	7.16383e-11	1	1	0
ACP1	52	broad.mit.edu	37	2	272114	272114	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:272114G>A	ENST00000272065.5	+	3	288	c.195G>A	c.(193-195)aaG>aaA	p.K65K	ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000439645.2_Intron|ACP1_ENST00000405233.1_Intron|ACP1_ENST00000407983.3_Silent_p.K65K|ACP1_ENST00000272067.6_Intron	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	65						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GCTGCATGAAGAGGCACGGCA	0.562000													18	14					0	0	1	0	0
BORA	79866	broad.mit.edu	37	13	73309140	73309140	+	Silent	SNP	A	A	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr13:73309140A>G	ENST00000390667.5	+	4	400	c.303A>G	c.(301-303)gaA>gaG	p.E101E	BORA_ENST00000377815.3_Silent_p.E31E|BORA_ENST00000464754.1_Intron	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	101					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										AAGCCATTGAAGAGGTAACTT	0.303000													9	119					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101092411	101092411	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:101092411A>G	ENST00000360863.6	-	4	484	c.290T>C	c.(289-291)aTg>aCg	p.M97T	RGS22_ENST00000523287.1_Start_Codon_SNP_p.M1T|RGS22_ENST00000523437.1_Missense_Mutation_p.M97T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	97					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GGGGGCATTCATTTGAACAGG	0.333000													27	360					0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265774	265774	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:265774G>A	ENST00000419098.1	-	4	882	c.872C>T	c.(871-873)tCa>tTa	p.S291L		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						GGCAACATTTGAGGATGAGGT	0.383000													5	14					0	0	1	0	0
C4orf45	152940	broad.mit.edu	37	4	159881465	159881465	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:159881465G>A	ENST00000434826.2	-	3	413	c.329C>T	c.(328-330)tCa>tTa	p.S110L	C4orf45_ENST00000508011.1_Intron	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	110										large_intestine(2)|lung(3)	5						GTGGGTTATTGAATCAAGAGA	0.308000													5	23					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17988547	17988547	+	Silent	SNP	G	G	A	rs145029822	byFrequency	TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:17988547G>A	ENST00000222248.3	+	6	1061	c.714G>A	c.(712-714)ccG>ccA	p.P238P		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	238					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACCCTGACCCGAGGAGCCGCT	0.602000													14	13					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632274	156632274	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:156632274T>G	ENST00000296518.7	+	6	1166	c.957T>G	c.(955-957)aaT>aaG	p.N319K	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.N319K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.N319K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.N319K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.N61K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.N319K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.N319K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	319					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GAAAGCCTAATTTTGAAGAAT	0.378000													12	50					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46889551	46889551	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr18:46889551C>T	ENST00000269445.6	-	6	931	c.474G>A	c.(472-474)ttG>ttA	p.L158L	DYM_ENST00000578396.1_Silent_p.L3L|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	158						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TATCAGTGATCAACTGCATCA	0.353000													43	33					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66798288	66798288	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:66798288G>A	ENST00000423207.2	+	6	1172	c.687G>A	c.(685-687)gaG>gaA	p.E229E	PDE4B_ENST00000329654.4_Silent_p.E244E|PDE4B_ENST00000371045.5_Silent_p.E72E|PDE4B_ENST00000371049.3_Silent_p.E244E	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	244					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CTGTCAGTGAGATGGCTTCTA	0.458000													9	30					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	27					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1557609	1557609	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:1557609C>G	ENST00000262319.6	+	20	2578	c.2299C>G	c.(2299-2301)Cgc>Ggc	p.R767G		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	767						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CAGCTACGTGCGCCAGGGGCT	0.706000													3	6					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169812207	169812207	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:169812207C>T	ENST00000335742.7	+	12	2982	c.1625C>T	c.(1624-1626)cCg>cTg	p.P542L	CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Splice_Site_p.P700L|PALLD_ENST00000505667.1_Splice_Site_p.P700L|PALLD_ENST00000507735.1_Splice_Site_p.P213L|PALLD_ENST00000512127.1_Splice_Site_p.P318L			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	924					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AATGGCCAGCCGGTACTGATA	0.448000									Pancreatic Cancer, Familial Clustering of				5	41					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8609262	8609262	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:8609262C>G	ENST00000338257.8	-	14	1710	c.1443G>C	c.(1441-1443)caG>caC	p.Q481H		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	481	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTGCAGCTTCTGCAGCAGTG	0.682000													6	26					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467432	10467432	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:10467432C>A	ENST00000382483.3	-	4	4399	c.4176G>T	c.(4174-4176)gaG>gaT	p.E1392D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1392					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTTGAGACCCTCTTCAAGAG	0.542000													77	190					7.7321e-48	8.62057e-48	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56552371	56552371	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:56552371G>C	ENST00000390649.3	+	11	2870	c.2870G>C	c.(2869-2871)tGc>tCc	p.C957S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	957						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACACACCTGTGCCTATCCAAC	0.567000													21	99					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905028	180905028	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:180905028G>A	ENST00000367588.4	+	5	2038	c.1983G>A	c.(1981-1983)aaG>aaA	p.K661K	KIAA1614_ENST00000367587.1_Silent_p.K282K	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	661										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGTGGTCCAAGAAGGCTGAGG	0.667000													12	33					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48201215	48201215	+	Silent	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:48201215G>T	ENST00000394747.1	-	29	4468	c.4119C>A	c.(4117-4119)ctC>ctA	p.L1373L	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.L1373L|ABCC11_ENST00000356608.2_Silent_p.L1373L|ABCC11_ENST00000353782.5_Silent_p.L1335L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1373	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTGTGGCCATGAGGGCTGCGA	0.577000													35	72					3.62531e-18	3.95588e-18	1	1	0
BHLHE41	79365	broad.mit.edu	37	12	26277501	26277501	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:26277501G>A	ENST00000242728.4	-	2	424	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	26					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						CATATACAAAGAGGAATAGTC	0.463000													10	381					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627293	170627293	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:170627293C>T	ENST00000476287.1	+	2	923	c.815C>T	c.(814-816)tCg>tTg	p.S272L	FAM120B_ENST00000540480.1_Missense_Mutation_p.S284L|FAM120B_ENST00000537664.1_Missense_Mutation_p.S295L|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	272					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GACCATATATCGAAAGTTCTT	0.333000													12	67					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811700	140811700	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:140811700C>T	ENST00000252085.3	+	1	1516	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTATTCCGCTTATATCC	0.582000													11	40					0	0	1	0	0
MT1A	4489	broad.mit.edu	37	16	56672671	56672671	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:56672671C>T	ENST00000290705.8	+	1	94	c.21C>T	c.(19-21)tgC>tgT	p.C7C		NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	7	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)	3						ACTGCTCCTGCGCCACTGGTA	0.542000													16	102					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6709148	6709148	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:6709148C>G	ENST00000309577.6	-	10	1436	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q	CHD4_ENST00000357008.2_Missense_Mutation_p.E425Q|CHD4_ENST00000544040.1_Missense_Mutation_p.E418Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E422Q			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	425					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAATTGTCCTCTTTAGCTTCC	0.547000													35	127					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33562402	33562402	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:33562402C>T	ENST00000294517.6	+	9	1435	c.848C>T	c.(847-849)tCg>tTg	p.S283L	ADC_ENST00000398167.1_Missense_Mutation_p.S283L|ADC_ENST00000373441.1_Missense_Mutation_p.S283L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373440.1_Missense_Mutation_p.S125L|ADC_ENST00000373443.3_Missense_Mutation_p.S283L|ADC_ENST00000358680.3_Missense_Mutation_p.S125L	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	283					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TACGTGACCTCGGCCTTCACT	0.587000													12	35					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65194275	65194275	+	Splice_Site	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:65194275C>A	ENST00000381210.3	-	3	397		c.e3-1		TECRL_ENST00000507440.1_Splice_Site	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like						lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CACTTTGGACCTATTCAATGA	0.318000													17	52					8.00594e-06	8.11902e-06	1	1	0
PDIA3	2923	broad.mit.edu	37	15	44057707	44057707	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:44057707C>T	ENST00000300289.5	+	6	810	c.662C>T	c.(661-663)gCa>gTa	p.A221V	PDIA3_ENST00000538521.1_Missense_Mutation_p.A201V	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	221					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AAGACTGTGGCATATACAGAG	0.353000													42	65					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96415636	96415636	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr9:96415636C>T	ENST00000359246.4	+	6	1145	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	260	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGCCTGGTACCACGTGCTCAA	0.597000													6	20					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61386081	61386081	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:61386081G>A	ENST00000370501.3	+	2	1130	c.759G>A	c.(757-759)tcG>tcA	p.S253S		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	253						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.S253S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TGGTCATCTCGGTCCTGAACA	0.607000													63	48					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42641914	42641914	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:42641914G>A	ENST00000372899.1	+	38	4492	c.4234G>A	c.(4234-4236)Gac>Aac	p.D1412N	UBR2_ENST00000372901.1_Missense_Mutation_p.D1412N|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1412					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATTAGATATTGACATGTTTCA	0.378000													37	57					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88048267	88048267	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:88048267C>T	ENST00000307808.6	+	14	3300	c.2880C>T	c.(2878-2880)gaC>gaT	p.D960D	AFF1_ENST00000544085.1_Silent_p.D598D|AFF1_ENST00000395146.4_Silent_p.D967D	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	960						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TGAAGTTTGACAAGTAAGACT	0.443000													30	91					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161071421	161071421	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:161071421G>A	ENST00000447678.1	-	3	278	c.158C>T	c.(157-159)tCa>tTa	p.S53L	LPA_ENST00000316300.5_Missense_Mutation_p.S53L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2561	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTCATAGATGACCAAGCTTG	0.448000													51	183					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8055748	8055748	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:8055748G>C	ENST00000344293.5	+	6	2829	c.2623G>C	c.(2623-2625)Gac>Cac	p.D875H		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	875					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TAACAAGCCTGACGATGGGAG	0.562000													11	347					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26310532	26310532	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:26310532C>A	ENST00000265944.5	+	8	852	c.686C>A	c.(685-687)cCa>cAa	p.P229Q	MYO3A_ENST00000376302.1_Missense_Mutation_p.P229Q|MYO3A_ENST00000543632.1_Missense_Mutation_p.P229Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	229	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGAGATCCTCCACTAGCTGAC	0.498000													13	508					7.03913e-09	7.34607e-09	1	1	0
SPTAN1	6709	broad.mit.edu	37	9	131345392	131345392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr9:131345392C>T	ENST00000372739.3	+	15	1953	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.Q615*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.Q615*	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	615					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACAGAAGCATCAGGCTTTTGA	0.458000													25	4					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70191724	70191724	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:70191724C>G	ENST00000399180.2	-	13	2135	c.2136G>C	c.(2134-2136)ttG>ttC	p.L712F	DNA2_ENST00000399179.2_Missense_Mutation_p.L626F|DNA2_ENST00000358410.3_Missense_Mutation_p.L626F			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	626					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GAGGCTTATTCAAACCTACAT	0.343000													27	79					0	0	1	0	0
HOXC6	3223	broad.mit.edu	37	12	54422457	54422457	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:54422457C>G	ENST00000243108.4	+	1	316	c.152C>G	c.(151-153)tCg>tGg	p.S51W	RP11-834C11.14_ENST00000512206.1_RNA|HOXC6_ENST00000394331.3_5'UTR|RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	51					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGGATCTACTCGACTCCCTTT	0.542000													10	29					0	0	1	0	0
FAM133B	257415	broad.mit.edu	37	7	92208708	92208708	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:92208708C>T	ENST00000438306.1	-	4	324	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	FAM133B_ENST00000445716.1_Splice_Site_p.E42K|FAM133B_ENST00000427372.1_Splice_Site_p.E32K	NM_001040057.1	NP_001035146.1	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	42										endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTTACTTCTTCCCTTAAAAAA	0.274000													8	9					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347365	71347365	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:71347365G>C	ENST00000413702.1	+	4	1192	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	MUC7_ENST00000304887.5_Missense_Mutation_p.E302Q|MUC7_ENST00000456088.1_Missense_Mutation_p.E302Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	302	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTCCACAAGAGACCACAGC	0.557000													52	52					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187858	121187858	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:121187858G>A	ENST00000321339.1	+	1	209	c.200G>A	c.(199-201)cGg>cAg	p.R67Q		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	67					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R67Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCCCCTCTCGGGTGCGCCAG	0.711000													5	5					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59941275	59941275	+	Silent	SNP	T	T	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr18:59941275T>G	ENST00000256858.6	+	22	3173	c.2925T>G	c.(2923-2925)tcT>tcG	p.S975S	KIAA1468_ENST00000398130.2_Silent_p.S941S			Q9P260	K1468_HUMAN	KIAA1468	941							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTTCATTATCTCATGCTCCTC	0.353000													27	46					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135308785	135308785	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:135308785G>A	ENST00000367837.5	-	9	1434	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*	HBS1L_ENST00000527578.1_Nonsense_Mutation_p.Q246*|HBS1L_ENST00000415177.2_Nonsense_Mutation_p.Q345*|HBS1L_ENST00000445176.2_Nonsense_Mutation_p.Q134*|HBS1L_ENST00000367824.4_Nonsense_Mutation_p.Q246*|HBS1L_ENST00000367826.2_Nonsense_Mutation_p.Q368*	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	410					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TTAAATACCTGATCCATTTTA	0.398000													6	70					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617664	100617664	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr13:100617664G>A	ENST00000267294.4	-	2	2192	c.1959C>T	c.(1957-1959)taC>taT	p.Y653Y		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	653					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGGGTTCCCGTAAATTTCCT	0.468000													42	57					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36623930	36623930	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:36623930G>A	ENST00000280527.2	+	2	872	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	169					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GAGAATTGAAGGTAAGCATTA	0.368000													22	54					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558592	113558592	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:113558592C>G	ENST00000284601.3	-	1	528	c.460G>C	c.(460-462)Gag>Cag	p.E154Q		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	154	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACTAACTTCTCAAAAGAAACA	0.358000													21	71					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160125918	160125918	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:160125918C>G	ENST00000368081.4	+	4	966	c.495C>G	c.(493-495)atC>atG	p.I165M		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	165					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCCAAGATCATGGAGTCTT	0.517000													81	58					0	0	1	0	0
TBL1X	6907	broad.mit.edu	37	X	9622274	9622274	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:9622274C>G	ENST00000217964.7	+	5	763	c.123C>G	c.(121-123)atC>atG	p.I41M	TBL1X_ENST00000407597.2_Missense_Mutation_p.I41M|TBL1X_ENST00000424279.1_5'UTR|TBL1X_ENST00000380961.1_5'UTR|TBL1X_ENST00000536365.1_5'UTR	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	41					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CCCACTTCATCAACACCTCAT	0.418000													17	4					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237756797	237756797	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:237756797T>C	ENST00000366574.2	+	33	4614	c.4297T>C	c.(4297-4299)Ttt>Ctt	p.F1433L	RYR2_ENST00000360064.6_Missense_Mutation_p.F1431L|RYR2_ENST00000542537.1_Missense_Mutation_p.F1417L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1433	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAGAATCTTTCCTGGACA	0.403000													5	23					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156498839	156498839	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:156498839C>T	ENST00000361170.2	-	35	4450	c.4440G>A	c.(4438-4440)cgG>cgA	p.R1480R		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1480					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCTGCCTTCCGCCTGTGCC	0.592000													82	52					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99642429	99642429	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr14:99642429G>C	ENST00000345514.2	-	3	797	c.531C>G	c.(529-531)atC>atG	p.I177M	BCL11B_ENST00000443726.2_Missense_Mutation_p.I54M|BCL11B_ENST00000357195.3_Missense_Mutation_p.I248M	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	248						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCTCCAGGTAGATGCGGAAGC	0.662000			T	TLX3	T-ALL								23	9					0	0	1	0	0
C8orf59	401466	broad.mit.edu	37	8	86126847	86126847	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:86126847C>G	ENST00000417663.2	-	4	316	c.245G>C	c.(244-246)cGt>cCt	p.R82P	C8orf59_ENST00000458398.2_Missense_Mutation_p.R82P|C8orf59_ENST00000524353.1_Missense_Mutation_p.R82P|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000518091.1_Missense_Mutation_p.R82P|C8orf59_ENST00000518562.1_Missense_Mutation_p.R43P|C8orf59_ENST00000421308.2_Missense_Mutation_p.R82P|C8orf59_ENST00000431163.2_Missense_Mutation_p.R43P	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	82																	GCTTTCATGACGCTGCTGAGG	0.323000													6	53					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41268862	41268862	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:41268862G>A	ENST00000243563.3	+	4	1033	c.483G>A	c.(481-483)ccG>ccA	p.P161P		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	161	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGGCCAGCCGCCCTACATGC	0.677000													8	66					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492970	21492970	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:21492970G>A	ENST00000377142.4	-	2	769	c.413C>T	c.(412-414)gCg>gTg	p.A138V		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	138					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTAGGTCTGCGCCTTGGAGAA	0.697000													3	11					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7047065	7047065	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:7047065C>A	ENST00000356654.4	+	6	2589	c.2352C>A	c.(2350-2352)ttC>ttA	p.F784L	ATN1_ENST00000396684.2_Missense_Mutation_p.F784L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	784					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ACCTGTACTTCGTGCCACTGG	0.687000													4	6					2.56e-06	2.62583e-06	1	1	0
ACSF3	197322	broad.mit.edu	37	16	89220540	89220540	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:89220540G>A	ENST00000317447.4	+	11	2033	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000378345.4_Silent_p.L287L|ACSF3_ENST00000406948.3_Silent_p.L552L	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	552					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		AGCTGGTGCTGGTGGAGGAGA	0.632000													4	12					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100417903	100417903	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:100417903C>T	ENST00000372927.1	+	21	2495	c.2218C>T	c.(2218-2220)Cat>Tat	p.H740Y	CENPI_ENST00000218507.5_Missense_Mutation_p.H726Y|CENPI_ENST00000423383.1_Missense_Mutation_p.H740Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	740					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.H740Y(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAGTAGTGTTCATCATTCTTC	0.383000													40	14					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	598454	598454	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:598454C>G	ENST00000264555.5	+	9	1104	c.976C>G	c.(976-978)Cag>Gag	p.Q326E	PHRF1_ENST00000413872.2_Missense_Mutation_p.Q325E|PHRF1_ENST00000416188.2_Missense_Mutation_p.Q326E|PHRF1_ENST00000533464.1_Missense_Mutation_p.Q322E	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	326	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGCCGTGTATCAGCGCCCCCT	0.662000													3	19					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127431657	127431657	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:127431657A>T	ENST00000337623.3	+	17	2405	c.2300A>T	c.(2299-2301)gAc>gTc	p.D767V	C10orf137_ENST00000356792.4_Missense_Mutation_p.D801V	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	801					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTGTCTACAGACTTAGAAAGT	0.368000													7	36					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26406292	26406292	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:26406292G>C	ENST00000289361.6	+	3	609	c.241G>C	c.(241-243)Gat>Cat	p.D81H	BTN3A1_ENST00000425234.2_Missense_Mutation_p.D81H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.D81H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.D81H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	81	Ig-like V-type 1.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CGTGTATGCAGATGGAAAGGA	0.557000													39	61					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68014178	68014178	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:68014178C>T	ENST00000268793.4	-	1	554	c.181G>A	c.(181-183)Gcg>Acg	p.A61T	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	36					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GTGGTCTCCGCGCGGGTTACG	0.746000													5	7					0	0	1	0	0
RHBDD1	84236	broad.mit.edu	37	2	227729646	227729646	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:227729646G>T	ENST00000392062.2	+	4	761	c.237G>T	c.(235-237)tgG>tgT	p.W79C	RHBDD1_ENST00000341329.3_Missense_Mutation_p.W79C	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	79						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTGATGATTGGCATTTGTATT	0.438000													22	42					3.5997e-14	3.88076e-14	1	1	0
MUSK	4593	broad.mit.edu	37	9	113547876	113547876	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr9:113547876C>T	ENST00000416899.2	+	11	1758	c.1632C>T	c.(1630-1632)ccC>ccT	p.P544P	MUSK_ENST00000374438.1_Silent_p.P68P|MUSK_ENST00000189978.5_Silent_p.P552P|MUSK_ENST00000374448.4_Silent_p.P552P			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	552					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ATCCCAACCCCATGTACCAGA	0.498000													28	123					0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4087897	4087897	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:4087897C>T	ENST00000380175.4	+	2	787	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	C6orf201_ENST00000430835.2_Silent_p.L8L|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Intron	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	8										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCTCCACGAGCTGCTTCCGAA	0.483000													43	208					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107408602	107408602	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:107408602C>T	ENST00000334504.7	-	38	4039	c.3806G>A	c.(3805-3807)cGa>cAa	p.R1269Q	COL4A6_ENST00000545689.1_Missense_Mutation_p.R1245Q|COL4A6_ENST00000372216.4_Missense_Mutation_p.R1270Q|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1270Q|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1245Q	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1270	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCTTTACCTCGTTCTCCATC	0.592000									Alport syndrome with Diffuse Leiomyomatosis				21	13					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74685495	74685495	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:74685495C>T	ENST00000380494.5	-	13	1883	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q	COL4A3BP_ENST00000405807.4_Silent_p.Q402Q|COL4A3BP_ENST00000261415.7_Silent_p.Q376Q	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	402	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TCATGTGGTTCTGCACCATCT	0.408000													8	29					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6552958	6552958	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:6552958C>T	ENST00000263125.5	-	3	416	c.317G>A	c.(316-318)tGg>tAg	p.W106*	PRKCQ_ENST00000397176.2_Splice_Site_p.W106*|PRKCQ_ENST00000539722.1_Splice_Site_p.M1I	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	106	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CAACGTTACCCATATTTCTGT	0.478000													14	267					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44148851	44148851	+	Silent	SNP	A	A	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:44148851A>G	ENST00000416848.2	-	2	686	c.198T>C	c.(196-198)aaT>aaC	p.N66N	PUS7L_ENST00000551923.1_Silent_p.N66N|PUS7L_ENST00000553166.1_Silent_p.N66N|PUS7L_ENST00000344862.5_Silent_p.N66N|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	66					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTTTGGGAAAATTATTTGGCT	0.323000													3	43					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	422243	422243	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:422243G>A	ENST00000431232.2	-	13	2220	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	TMEM8A_ENST00000250930.3_Missense_Mutation_p.S494L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	687				S -> L (in Ref. 6; BAB14975).	cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GCGCTGCCACGAGGTGGGGTA	0.642000													4	17					0	0	1	0	0
SLC31A1	1317	broad.mit.edu	37	9	116022660	116022660	+	Silent	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr9:116022660C>A	ENST00000374212.4	+	5	632	c.480C>A	c.(478-480)ctC>ctA	p.L160L	SLC31A1_ENST00000374210.6_Intron|CDC26_ENST00000490408.1_Intron	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	160						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						ACGGGTACCTCTGCATTGCAG	0.502000													17	72					3.41278e-10	3.58242e-10	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35402018	35402018	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:35402018G>T	ENST00000453357.2	+	1	109	c.53G>T	c.(52-54)gGg>gTg	p.G18V	UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGGACTTCCGGGTTCCTGTTG	0.428000													6	40					5.18039e-06	5.26844e-06	1	1	0
RHBDF2	79651	broad.mit.edu	37	17	74469921	74469921	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:74469921C>T	ENST00000591885.1	-	14	2188	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	RHBDF2_ENST00000389760.4_Splice_Site_p.P546P|RHBDF2_ENST00000313080.4_Splice_Site_p.P575P			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	575					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGACACTCACCGGCCACTTAG	0.657000													4	27					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100542245	100542245	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:100542245C>T	ENST00000457717.1	+	18	2626	c.2370C>T	c.(2368-2370)atC>atT	p.I790I	MTTP_ENST00000265517.5_Silent_p.I790I|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.I817I	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	790					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CCACTGACATCACAGTGGACT	0.388000													13	46					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39304431	39304431	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:39304431G>A	ENST00000381897.1	-	17	2402	c.2269C>T	c.(2269-2271)Cat>Tat	p.H757Y	RFC1_ENST00000349703.2_Missense_Mutation_p.H756Y	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	757					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATCTTGGGATGATTTCTATCA	0.313000													18	62					0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19377094	19377094	+	Silent	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:19377094C>G	ENST00000379806.5	+	11	1219	c.1074C>G	c.(1072-1074)ctC>ctG	p.L358L	PDHA1_ENST00000422285.2_Silent_p.L320L|PDHA1_ENST00000379804.1_Silent_p.L39L|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000545074.1_Silent_p.L327L|PDHA1_ENST00000540249.1_Silent_p.L289L	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	320					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TTATGCTTCTCAAGGACAGGA	0.433000													23	11					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47276474	47276474	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:47276474G>C	ENST00000396220.1	-	16	1886	c.1864C>G	c.(1864-1866)Ctg>Gtg	p.L622V	PREX1_ENST00000371941.3_Missense_Mutation_p.L622V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	622					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGCTTGGCCAGAATGTTCTCC	0.582000													9	47					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30937078	30937078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:30937078C>T	ENST00000597505.1	-	25	3632	c.3633G>A	c.(3631-3633)tgG>tgA	p.W1211*	DCDC1_ENST00000339794.5_Nonsense_Mutation_p.W290*|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTGGTGTATCCAGCGCTGAT	0.463000													20	36					0	0	1	0	0
MCEE	84693	broad.mit.edu	37	2	71351592	71351592	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:71351592G>C	ENST00000244217.5	-	2	139	c.122C>G	c.(121-123)tCt>tGt	p.S41C		NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	41					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity	p.S41Y(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTTCCACACAGAACCTGTCAC	0.468000													204	54					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958193	61958193	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:61958193G>C	ENST00000332800.7	-	4	528	c.395C>G	c.(394-396)tCg>tGg	p.S132W	GH2_ENST00000449787.2_Missense_Mutation_p.S117W|GH2_ENST00000423893.2_Missense_Mutation_p.S132W|GH2_ENST00000456543.2_Missense_Mutation_p.S132W	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	132						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTTGCTGTCCGAGGCGCCATA	0.622000													11	56					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129270626	129270626	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:129270626C>T	ENST00000287295.3	-	11	1386	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	AIFM1_ENST00000440263.1_Missense_Mutation_p.G34S|AIFM1_ENST00000346424.2_Missense_Mutation_p.G99S|AIFM1_ENST00000319908.3_Missense_Mutation_p.G382S|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000460436.2_Missense_Mutation_p.G47S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	386	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						ACCTTCCTGCCGTCTTTCAGC	0.468000													5	26					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33768312	33768312	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:33768312C>A	ENST00000285013.6	-	6	2271	c.1996G>T	c.(1996-1998)Gtc>Ttc	p.V666F	SLFN13_ENST00000542635.1_Missense_Mutation_p.V666F|SLFN13_ENST00000526861.1_Missense_Mutation_p.V666F|SLFN13_ENST00000534689.1_Missense_Mutation_p.V348F|SLFN13_ENST00000360502.2_Missense_Mutation_p.V348F|SLFN13_ENST00000533791.1_Missense_Mutation_p.V666F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	666						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCGTCAATGACGATGTGTTGA	0.408000													15	89					5.35267e-07	5.53777e-07	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37524319	37524319	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:37524319G>C	ENST00000299824.1	+	4	622	c.433G>C	c.(433-435)Ggc>Cgc	p.G145R	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.G145R	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	145					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGCCACCTGCGGCCACATCAA	0.552000													4	23					0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90799029	90799029	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:90799029G>T	ENST00000438251.1	+	5	750	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	TTLL13_ENST00000339615.5_Missense_Mutation_p.D154Y|RP11-697E2.6_ENST00000561573.1_Intron			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	154	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CTGCCGCAAAGATCTGCTGGC	0.532000													48	251					2.31418e-15	2.51755e-15	1	1	0
PURB	5814	broad.mit.edu	37	7	44924166	44924166	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:44924166G>C	ENST00000395699.2	-	1	794	c.782C>G	c.(781-783)cCc>cGc	p.P261R		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	261					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GGCTTTGAAGGGTACGGTGAT	0.542000													40	59					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													3	24					0	0	1	0	0
SLMO2	51012	broad.mit.edu	37	20	57611559	57611559	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:57611559C>T	ENST00000355937.4	-	5	610	c.432G>A	c.(430-432)ctG>ctA	p.L144L	SLMO2_ENST00000371033.5_Silent_p.L114L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	144	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			TACTTGCCATCAGTCCTTCAA	0.428000													44	48					0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032576	74032576	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:74032576G>A	ENST00000569673.1	-	3	1768	c.564C>T	c.(562-564)ttC>ttT	p.F188F	C15orf59_ENST00000379822.4_Silent_p.F188F|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	188										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTTGTCACTGAACCGCACCC	0.642000													8	31					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99673192	99673192	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:99673192C>T	ENST00000303915.6	-	3	1084	c.117G>A	c.(115-117)gcG>gcA	p.A39A	ZNF3_ENST00000424697.1_Silent_p.A39A|ZNF3_ENST00000413658.2_Silent_p.A39A|ZNF3_ENST00000299667.4_Silent_p.A39A			P17036	ZNF3_HUMAN	zinc finger protein 3	39					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GGAGCGCAGCCGCCAACATCT	0.502000													7	35					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18847849	18847849	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:18847849G>A	ENST00000446231.2	-	47	8022	c.7610C>T	c.(7609-7611)tCt>tTt	p.S2537F	SMG1_ENST00000389467.3_Missense_Mutation_p.S2537F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2537					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGTGTGCTCAGAATACCTAAT	0.423000													10	62					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030376	10030376	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr20:10030376G>A	ENST00000378380.3	+	6	1488	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.G387R	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GAAAACCCGGGGAGGAGGGGT	0.433000													10	70					0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812804	31812804	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr21:31812804G>A	ENST00000334067.3	+	1	208	c.159G>A	c.(157-159)gaG>gaA	p.E53E		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	53						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						GCTGTCAGGAGACCTACTGTG	0.498000													12	54					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946932	144946932	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:144946932C>T	ENST00000525985.1	-	2	561	c.490G>A	c.(490-492)Gcc>Acc	p.A164T				P58107	EPIPL_HUMAN	epiplakin 1	164						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACTCCCTGGGCGGGGTCCACC	0.682000													14	11					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56789118	56789118	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:56789118C>G	ENST00000413728.2	-	3	827	c.284G>C	c.(283-285)aGa>aCa	p.R95T	ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R89T|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R121T|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R89T|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R95T|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R60T	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	89					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|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)		GGCGGCATTTCTGGACCAGGG	0.552000													61	51					0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39304383	39304383	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:39304383G>C	ENST00000381897.1	-	17	2450	c.2317C>G	c.(2317-2319)Caa>Gaa	p.Q773E	RFC1_ENST00000349703.2_Missense_Mutation_p.Q772E	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	773					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGAGGTCTTTGAAAACGAAGA	0.318000													17	51					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281716	152281716	+	Silent	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:152281716C>T	ENST00000368799.1	-	3	5681	c.5646G>A	c.(5644-5646)ggG>ggA	p.G1882G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1882	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGACGCGACCCTGAGTGCC	0.572000									Ichthyosis				45	276					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224903	42224903	+	Silent	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:42224903C>A	ENST00000221992.6	+	8	1947	c.1833C>A	c.(1831-1833)ctC>ctA	p.L611L	CEACAM5_ENST00000405816.1_Silent_p.L611L|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.L610L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	611	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GAGCGAACCTCAACCTCTCCT	0.532000													33	314					1.21669e-08	1.26606e-08	1	1	0
SLC35G3	146861	broad.mit.edu	37	17	33521267	33521267	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:33521267G>A	ENST00000297307.5	-	1	145	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	20						integral to membrane											TGGGTGGAGCGGAGGGCGGCG	0.662000													4	88					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124732495	124732495	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:124732495G>A	ENST00000311127.4	-	6	1995	c.1928C>T	c.(1927-1929)cCg>cTg	p.P643L	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	643	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CGAAGTGTTCGGCATATTAAT	0.498000													6	11					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15870928	15870928	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:15870928G>A	ENST00000375847.3	+	5	773	c.609G>A	c.(607-609)gaG>gaA	p.E203E	DNAJC16_ENST00000375849.1_Silent_p.E203E|DNAJC16_ENST00000375838.1_Silent_p.E203E	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	203	Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGGGTATGAGAGACGCCTGG	0.483000													8	32					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15523372	15523372	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr6:15523372G>C	ENST00000344537.5	-	10	1062	c.890C>G	c.(889-891)tCt>tGt	p.S297C	DTNBP1_ENST00000462989.2_Missense_Mutation_p.S141C|DTNBP1_ENST00000355917.3_Missense_Mutation_p.S298C	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	297	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GGAGGAAGAAGAAGGTGGCTT	0.542000									Hermansky-Pudlak syndrome				21	87					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16822525	16822525	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:16822525A>G	ENST00000355661.3	-	17	2415	c.2405T>C	c.(2404-2406)tTc>tCc	p.F802S	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.F802S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.F802S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	802					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGTCACCTGGAAAAAAAAGGC	0.443000													18	69					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43414218	43414218	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr21:43414218C>G	ENST00000310826.5	-	3	171		c.e3-1		ZBTB21_ENST00000398511.3_Splice_Site|ZBTB21_ENST00000398499.1_Splice_Site|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Splice_Site	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TTGAGTTTATCTAAAAGACAA	0.443000													43	23					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702144	30702144	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr8:30702144C>G	ENST00000256246.2	-	1	4464	c.4390G>C	c.(4390-4392)Gtt>Ctt	p.V1464L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1464										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTTGTTTAACTTTCCACGTT	0.343000													10	50					0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43664504	43664504	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr18:43664504C>G	ENST00000593152.2	-	11	1935	c.1396G>C	c.(1396-1398)Gtc>Ctc	p.V466L	ATP5A1_ENST00000398752.6_Missense_Mutation_p.V516L|ATP5A1_ENST00000590665.1_Missense_Mutation_p.V494L|ATP5A1_ENST00000282050.2_Missense_Mutation_p.V516L	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	516					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TGCTGGCTGACGACATGAGAC	0.378000													6	68					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28946784	28946784	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:28946784G>A	ENST00000538922.1	+	5	917	c.855G>A	c.(853-855)ctG>ctA	p.L285L	CD19_ENST00000567541.1_Silent_p.L285L|CD19_ENST00000324662.3_Silent_p.L285L	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	285					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACTGGCTGCTGAGGACTGGTG	0.532000													12	32					0	0	1	0	0
KLHL41	10324	broad.mit.edu	37	2	170367360	170367360	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:170367360G>C	ENST00000284669.1	+	1	1149	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TGTGGATGAAGAAAATAAGGA	0.408000													27	27					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82387994	82387994	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:82387994T>C	ENST00000333891.9	-	25	15663	c.15326A>G	c.(15325-15327)aAg>aGg	p.K5109R		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AATCAAGGTCTTTTTCATAAA	0.333000													17	72					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69093692	69093692	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:69093692G>C	ENST00000543976.1	-	3	1657	c.1411C>G	c.(1411-1413)Ctt>Gtt	p.L471V	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.L468V|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	468					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCCTTACTAAGAGATAATAAC	0.338000													27	63					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24389718	24389718	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:24389718G>C	ENST00000330966.7	-	32	3839	c.3677C>G	c.(3676-3678)tCt>tGt	p.S1226C	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.S1223C|MYOM3_ENST00000338909.5_Missense_Mutation_p.S116C			Q5VTT5	MYOM3_HUMAN	myomesin 3	1223										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGAGTTGCAGAGAGGGCTGG	0.557000													30	27					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541104	133541104	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:133541104C>T	ENST00000409261.1	-	14	3653	c.3280G>A	c.(3280-3282)Gat>Aat	p.D1094N	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1094N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1094	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGGCGCTATCATTCAATTGT	0.498000													44	90					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	294638	294638	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:294638C>A	ENST00000409548.2	+	14	2218	c.2103C>A	c.(2101-2103)ttC>ttA	p.F701L	ATHL1_ENST00000409479.1_Missense_Mutation_p.F728L|ATHL1_ENST00000409655.1_Missense_Mutation_p.F453L	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	701					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTCCGAGTTCCCTGGGAGGA	0.622000													33	118					9.04072e-19	9.89517e-19	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25427356	25427356	+	RNA	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr15:25427356G>C	ENST00000424208.1	+	0	153					NR_003305.1																						GTTGAGCCCAGAGGAAGACTT	0.612000													3	0					0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150069065	150069065	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:150069065C>A	ENST00000397281.2	+	4	1224	c.735C>A	c.(733-735)ttC>ttA	p.F245L	REPIN1_ENST00000540729.1_Missense_Mutation_p.F245L|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000425389.2_Missense_Mutation_p.F245L|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.F302L|REPIN1_ENST00000444957.1_Missense_Mutation_p.F245L	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	245					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCAAGCGCTTCCGGCACAAGC	0.716000													28	33					6.38683e-12	6.8444e-12	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26812147	26812147	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:26812147G>A	ENST00000381340.3	-	16	2201	c.1785C>T	c.(1783-1785)atC>atT	p.I595I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	595					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ACAAAGCTGTGATAGTATCTT	0.378000													23	449					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186790697	186790697	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:186790697G>T	ENST00000169298.3	+	6	1440	c.766G>T	c.(766-768)Gta>Tta	p.V256L	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.V256L|ST6GAL1_ENST00000457772.2_Missense_Mutation_p.V25L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	256					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		AATCCTAATTGTATGGGACCC	0.438000													40	140					6.68952e-21	7.34415e-21	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24788436	24788436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr16:24788436C>T	ENST00000395799.3	+	5	475	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q116*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	116	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		gccacagccgcagccgcagca	0.597000													11	20					0	0	1	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22440139	22440139	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:22440139C>T	ENST00000396037.4	-	2	806	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	ST8SIA1_ENST00000539510.1_Silent_p.T2T	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	109					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						AAAAACTCCCCGTCATACCAC	0.418000													4	103					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130360553	130360553	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:130360553C>T	ENST00000358511.6	+	28	5180	c.5149C>T	c.(5149-5151)Cgt>Tgt	p.R1717C	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1717C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1717	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCTCCTGGACGTAAGGTAAG	0.383000													9	7					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644344	207644344	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:207644344G>T	ENST00000367057.3	+	8	1594	c.1405G>T	c.(1405-1407)Gca>Tca	p.A469S	CR2_ENST00000367059.3_Missense_Mutation_p.A469S|CR2_ENST00000458541.2_Missense_Mutation_p.A469S|CR2_ENST00000367058.3_Missense_Mutation_p.A469S	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	469	Sushi 8.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTTCTTAGTGGCAGCGTGTGA	0.438000													19	51					1.55795e-14	1.68465e-14	1	1	0
SIRT7	51547	broad.mit.edu	37	17	79872317	79872317	+	Silent	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:79872317C>G	ENST00000328666.6	-	7	731	c.669G>C	c.(667-669)cgG>cgC	p.R223R		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	223	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGTGGCAGGTCCGGCCTGTCT	0.632000													7	14					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45871896	45871896	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr19:45871896G>A	ENST00000391945.4	-	5	429	c.352C>T	c.(352-354)Cac>Tac	p.H118Y	ERCC2_ENST00000221481.6_Missense_Mutation_p.H118Y|ERCC2_ENST00000485403.2_Missense_Mutation_p.H94Y|ERCC2_ENST00000391940.4_Missense_Mutation_p.H94Y|ERCC2_ENST00000391944.3_Missense_Mutation_p.H118Y	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	118	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACCTCAGGGTGAATACACAAG	0.522000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				18	14					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62778440	62778440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr4:62778440C>T	ENST00000512091.2	+	12	2620	c.1873C>T	c.(1873-1875)Cag>Tag	p.Q625*	LPHN3_ENST00000506746.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.Q693*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.Q625*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.Q693*			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATTCAGCTTCAGAAAAGAGA	0.358000													55	40					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5810173	5810173	+	Silent	SNP	G	G	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr9:5810173G>A	ENST00000339450.5	-	8	1475	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	ERMP1_ENST00000543230.1_Silent_p.F40F|ERMP1_ENST00000381506.3_Silent_p.F238F|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	462					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CAAGGCTAGTGAACCAGCTGA	0.403000													87	95					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52899095	52899095	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr14:52899095C>G	ENST00000281741.4	-	21	2776	c.2405G>C	c.(2404-2406)aGa>aCa	p.R802T		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	802					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CCAATTACTTCTATTCCAATG	0.338000													14	28					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46725664	46725664	+	Silent	SNP	G	G	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:46725664G>C	ENST00000371975.4	+	5	974	c.300G>C	c.(298-300)ctG>ctC	p.L100L	RAD54L_ENST00000442598.1_Silent_p.L100L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	100					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CATTGGGCCTGAAAAGGGCTG	0.557000								Direct reversal of damage;Homologous recombination					65	42					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390511	124390511	+	Silent	SNP	C	C	A			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:124390511C>A	ENST00000368909.3	+	46	5779	c.5673C>A	c.(5671-5673)tcC>tcA	p.S1891S	DMBT1_ENST00000359586.6_Silent_p.S611S|DMBT1_ENST00000368955.3_Silent_p.S1881S|DMBT1_ENST00000368956.2_Silent_p.S1263S|DMBT1_ENST00000338354.3_Silent_p.S1891S|DMBT1_ENST00000344338.3_Silent_p.S1881S|DMBT1_ENST00000330163.4_Silent_p.S1263S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1891	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TAAATTCATCCTATGGTCTAT	0.478000													4	61					4.096e-09	4.28707e-09	1	1	0
ZNF236	7776	broad.mit.edu	37	18	74622751	74622751	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr18:74622751C>G	ENST00000253159.8	+	16	2981	c.2783C>G	c.(2782-2784)tCt>tGt	p.S928C	ZNF236_ENST00000320610.9_Missense_Mutation_p.S930C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	928					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCTCCCAGCTCTGATGGGATG	0.478000													22	34					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62489717	62489717	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr11:62489717C>G	ENST00000301785.5	-	7	1423	c.1231G>C	c.(1231-1233)Gaa>Caa	p.E411Q	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E411Q	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	411	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAGTTTAATTCTACAACACAA	0.507000													37	52					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62542005	62542005	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr14:62542005A>G	ENST00000430451.2	+	3	1086	c.889A>G	c.(889-891)Agg>Ggg	p.R297G	SYT16_ENST00000446982.2_Missense_Mutation_p.R297G|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	297										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCAAAGCCTCAGGCGCCAATC	0.542000													10	32					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195778965	195778965	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:195778965C>T	ENST00000360110.4	-	19	2300	c.2131G>A	c.(2131-2133)Gct>Act	p.A711T	TFRC_ENST00000392396.3_Missense_Mutation_p.A711T|TFRC_ENST00000420415.1_Missense_Mutation_p.A630T|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.A429T	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	711	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCCAGTAAAGCTGGCAGCGTG	0.473000			T	BCL6	NHL								6	32					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057503	46057503	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr21:46057503T>C	ENST00000380095.1	+	1	231	c.169T>C	c.(169-171)Tgt>Cgt	p.C57R	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	57	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCAGACGGCCTGTGAGCCCAG	0.662000													15	51					0	0	1	0	0
RNF207	388591	broad.mit.edu	37	1	6279322	6279323	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:6279322_6279323delAG	ENST00000377939.4	+	18	1887_1888	c.1760_1761delAG	c.(1759-1761)aagfs	p.K587fs	RNF207_ENST00000483336.1_3'UTR|RNF207_ENST00000377948.2_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	587						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GTCCCGGAAAAGAGAGAGAAGA	0.495													20	43	---	---	---	---					
PRAMEF4	400735	broad.mit.edu	37	1	12939700	12939700	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:12939700delG	ENST00000235349.5	-	4	1172	c.1102delC	c.(1102-1104)caafs	p.Q368fs		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	368										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTTGACTTGGGAGTCTATG	0.507													13	504	---	---	---	---					
MAGOH	4116	broad.mit.edu	37	1	53694617	53694617	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:53694617delT	ENST00000371470.3	-	4	429	c.268delA	c.(268-270)atcfs	p.I90fs	MAGOH_ENST00000371466.4_Frame_Shift_Del_p.I53fs	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	90					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						CCAATGACGATTTCAAGCTCC	0.338													8	36	---	---	---	---					
RBMXL1	494115	broad.mit.edu	37	1	89448500	89448501	+	In_Frame_Ins	INS	-	-	CAT			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr1:89448500_89448501insCAT	ENST00000399794.2	-	3	1724_1725	c.1009_1010insATG	c.(1009-1011)agt>aATGgt	p.337_337S>NG	CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_In_Frame_Ins_p.337_337S>NG|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	337	Ser-rich.						nucleotide binding|RNA binding										CCTGTCACAACTTGAGTAGAGA	0.500													8	159	---	---	---	---					
EPC2	26122	broad.mit.edu	37	2	149526762	149526762	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr2:149526762delG	ENST00000258484.6	+	8	1217	c.1183delG	c.(1183-1185)gatfs	p.D395fs		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	395					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AAATGATCCTGATGGTCCCTG	0.403													3	5	---	---	---	---					
BRPF1	7862	broad.mit.edu	37	3	9783053	9783062	+	Frame_Shift_Del	DEL	GGCATGACTT	GGCATGACTT	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr3:9783053_9783062delGGCATGACTT	ENST00000383829.2	+	5	2188_2197	c.1784_1793delGGCATGACTT	c.(1783-1794)cggcatgacttgfs	p.RHDL595fs	BRPF1_ENST00000433861.2_Frame_Shift_Del_p.RHDL595fs|BRPF1_ENST00000457855.1_Frame_Shift_Del_p.RHDL595fs|BRPF1_ENST00000302054.3_Frame_Shift_Del_p.RHDL595fs|BRPF1_ENST00000424362.1_Frame_Shift_Del_p.RHDL595fs	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	595	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CAGCGGCTCCGGCATGACTTGGAGCGAGCT	0.500													7	199	---	---	---	---					
AP3B1	8546	broad.mit.edu	37	5	77406046	77406046	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr5:77406046delG	ENST00000255194.6	-	20	2557	c.2382delC	c.(2380-2382)tccfs	p.S794fs	AP3B1_ENST00000519295.1_Frame_Shift_Del_p.S745fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	794	Glu/Ser-rich.				endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGACTCTTCTGGATTCAGATT	0.338									Hermansky-Pudlak syndrome				11	21	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5353113	5353114	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr7:5353113_5353114insT	ENST00000399537.4	-	27	7756_7757	c.7408_7409insA	c.(7408-7410)acgfs	p.T2470fs	TNRC18_ENST00000430969.1_Frame_Shift_Ins_p.T2470fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2470							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TTTGGGTGACGTGACACCCTCG	0.693													12	9	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61822997	61822997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr10:61822997delG	ENST00000280772.2	-	40	12658	c.12467delC	c.(12466-12468)tcgfs	p.S4156fs	ANK3_ENST00000373827.2_Frame_Shift_Del_p.S1537fs|ANK3_ENST00000503366.1_Frame_Shift_Del_p.S1544fs|ANK3_ENST00000355288.2_Frame_Shift_Del_p.S677fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTCAAGACCGAAGTTAAGGC	0.353													12	19	---	---	---	---					
LDHB	3945	broad.mit.edu	37	12	21790006	21790007	+	Splice_Site	DEL	TT	TT	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr12:21790006_21790007delTT	ENST00000396076.1	-	7	1167_1168	c.835_836delAA	c.(835-837)aag>g	p.K279fs	LDHB_ENST00000350669.1_Splice_Site_p.K279fs	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	279					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TTGTCTTACCTTTACCATTGTT	0.342													29	50	---	---	---	---					
PIBF1	10464	broad.mit.edu	37	13	73395994	73395997	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr13:73395994_73395997delAGGA	ENST00000326291.6	+	6	1018_1021	c.680_683delAGGA	c.(679-684)gaggaafs	p.EE227fs		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	227						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TAGACATATGAGGAAGATCGAAAA	0.348													10	54	---	---	---	---					
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58090681	58090681	+	RNA	DEL	T	T	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr17:58090681delT	ENST00000407042.3	-	0	609																											CTCTGAATGATTTTTTTTTTT	0.458													2	4	---	---	---	---					
EPG5	57724	broad.mit.edu	37	18	43467788	43467788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr18:43467788delG	ENST00000282041.5	-	29	5071	c.5037delC	c.(5035-5037)tacfs	p.Y1679fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1679					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CATCGCTGACGTAATCCACAA	0.463													17	179	---	---	---	---					
CELSR1	9620	broad.mit.edu	37	22	46929858	46929859	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chr22:46929858_46929859delAT	ENST00000262738.3	-	1	3208_3209	c.3209_3210delAT	c.(3208-3210)tatfs	p.Y1070fs	CELSR1_ENST00000395964.1_Frame_Shift_Del_p.Y1070fs|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1070	Cadherin 8.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACCAGCACATACTCCCGCCG	0.629													8	35	---	---	---	---					
PQBP1	10084	broad.mit.edu	37	X	48760019	48760019	+	Frame_Shift_Del	DEL	A	A	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:48760019delA	ENST00000218224.4	+	5	842	c.588delA	c.(586-588)cgafs	p.R196fs	PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Frame_Shift_Del_p.R196fs|PQBP1_ENST00000376563.1_Frame_Shift_Del_p.R196fs|PQBP1_ENST00000376566.4_Frame_Shift_Del_p.R101fs|PQBP1_ENST00000247140.4_Frame_Shift_Del_p.R101fs|PQBP1_ENST00000447146.2_Frame_Shift_Del_p.R196fs	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAGTAAGCCGAAAGGATGAAG	0.562													2	4	---	---	---	---					
IKBKG	8517	broad.mit.edu	37	X	153770605	153770605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA87-01A-11D-A391-08	TCGA-4Z-AA87-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc19a22-4906-4c0d-a0f2-75bc48b3f25f	d5d442ad-6a73-4e28-acdc-e12a8919b814	g.chrX:153770605delG	ENST00000369609.5	+	1	147	c.127delG	c.(127-129)gggfs	p.G43fs	G6PD_ENST00000497281.1_Intron|G6PD_ENST00000393562.2_Intron|G6PD_ENST00000369620.2_Intron|IKBKG_ENST00000369607.1_Intron|G6PD_ENST00000393564.2_Intron	NM_001099856.2	NP_001093326.2	Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	0					activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity			endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCATCAGGTGGGGAAAGATG	0.567													2	4	---	---	---	---					
