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
CYP11B2	1585	broad.mit.edu	37	8	143994223	143994223	+	Splice_Site	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:143994223C>T	ENST00000323110.2	-	7	1202	c.1200_splice	c.e7+1	p.G400_splice		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	400					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTCACTCACCCCAGCTGGGA	0.587000									Familial Hyperaldosteronism type I				6	27					0	0	0.001168	0	0
TLR2	7097	broad.mit.edu	37	4	154626088	154626088	+	Missense_Mutation	SNP	C	C	T	rs121917864		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:154626088C>T	ENST00000260010.6	+	1	3437	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	677	TIR.		R -> W.		cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TCTTCATAAGCGGGACTTCAT	0.443000													29	47					0	0	0.006320	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978664	148978664	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:148978664G>C	ENST00000434415.1	+	6	1034	c.871G>C	c.(871-873)Ggg>Cgg	p.G291R	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	291					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GCTCTTTCTGGGGGTGTCCCG	0.632000													19	43					0	0	0.001523	0	0
FILIP1	27145	broad.mit.edu	37	6	76018589	76018589	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:76018589G>C	ENST00000393004.2	-	6	3681	c.3460C>G	c.(3460-3462)Cgg>Ggg	p.R1154G	FILIP1_ENST00000370020.1_Missense_Mutation_p.R1055G|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1154G			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1154										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGTGTAGGCCGCTGGGATGAC	0.493000													11	51					0	0	0.001368	0	0
PTPN13	5783	broad.mit.edu	37	4	87703365	87703365	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:87703365G>T	ENST00000436978.1	+	37	6469	c.5989G>T	c.(5989-5991)Gtg>Ttg	p.V1997L	PTPN13_ENST00000316707.6_Missense_Mutation_p.V1801L|PTPN13_ENST00000511467.1_Missense_Mutation_p.V1997L|PTPN13_ENST00000427191.2_Missense_Mutation_p.V1973L|PTPN13_ENST00000411767.2_Missense_Mutation_p.V1992L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1992						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCCTACAGTGTGGGGTCTTG	0.448000													7	83					0.000157383	0.000202791	0.003080	1	0
GCDH	2639	broad.mit.edu	37	19	13002648	13002648	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:13002648C>G	ENST00000222214.5	+	4	342	c.131C>G	c.(130-132)tCg>tGg	p.S44W	GCDH_ENST00000457854.1_Missense_Mutation_p.S44W|GCDH_ENST00000591470.1_Missense_Mutation_p.S44W|GCDH_ENST00000422947.2_5'UTR			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	44					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						TTCCCAGCCTCGCGTCCCGAG	0.632000													20	24					0	0	0.001523	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22926386	22926386	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:22926386C>A	ENST00000276431.4	-	1	306	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S	TNFRSF10B_ENST00000542226.1_5'UTR|RP11-875O11.2_ENST00000501897.1_RNA|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.A8S	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	8					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GCGGCCGGGGCGTTCTGTCCC	0.657000													14	24					2.23348e-06	3.07606e-06	0.004007	1	0
SMCHD1	23347	broad.mit.edu	37	18	2775815	2775815	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:2775815C>T	ENST00000320876.6	+	42	5597	c.5259C>T	c.(5257-5259)gtC>gtT	p.V1753V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.V1753V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1753					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACTGTGTAGTCACCCTAACCA	0.438000													5	52					0	0	0.001168	0	0
STAT5A	6776	broad.mit.edu	37	17	40460323	40460323	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:40460323C>T	ENST00000345506.4	+	17	2676	c.2034C>T	c.(2032-2034)gtC>gtT	p.V678V	STAT5A_ENST00000588868.1_Silent_p.V647V|STAT5A_ENST00000452307.2_Silent_p.V675V|STAT5A_ENST00000546010.2_Silent_p.V648V|STAT5A_ENST00000587646.1_Silent_p.V166V|STAT5A_ENST00000590949.1_Silent_p.V678V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	678	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGGATGAGGTCTTCTCCAAGT	0.607000													7	47					0	0	0.003080	0	0
FNBP1	23048	broad.mit.edu	37	9	132740764	132740764	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:132740764G>C	ENST00000420781.1	-	4	543	c.325C>G	c.(325-327)Ctg>Gtg	p.L109V	FNBP1_ENST00000355681.3_Missense_Mutation_p.L109V|FNBP1_ENST00000446176.2_Missense_Mutation_p.L109V			Q96RU3	FNBP1_HUMAN	formin binding protein 1	109	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TCCTGTTTCAGTTCCTGAACA	0.393000			T	MLL	AML								3	22					0	0	0.004672	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733134	52733134	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:52733134C>T	ENST00000360540.5	-	7	1257	c.851G>A	c.(850-852)aGa>aAa	p.R284K	PCMTD1_ENST00000522514.1_Missense_Mutation_p.R284K|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R208K	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	284						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AGTGTTAATTCTCTGTTTAAC	0.403000													11	140					0	0	0.002450	0	0
OR4K17	390436	broad.mit.edu	37	14	20586312	20586312	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:20586312C>G	ENST00000315543.4	+	1	747	c.747C>G	c.(745-747)taC>taG	p.Y249*		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTATCTCCTACAGTCTGATCC	0.418000													15	79					0	0	0.004007	0	0
NFE2	4778	broad.mit.edu	37	12	54686781	54686781	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:54686781G>A	ENST00000540264.2	-	2	1008	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.R167W|NFE2_ENST00000435572.2_Missense_Mutation_p.R167W|NFE2_ENST00000553070.1_Missense_Mutation_p.R167W			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	167	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTGCGCCGCCGACCAGCCTCT	0.552000													15	78					0	0	0.006122	0	0
CPB2	1361	broad.mit.edu	37	13	46658367	46658367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:46658367C>A	ENST00000181383.4	-	3	278	c.262G>T	c.(262-264)Gga>Tga	p.G88*	CPB2_ENST00000439329.3_Nonsense_Mutation_p.G88*|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	88					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CATGGAATTCCGCTCACATTT	0.388000													37	67					2.35958e-20	4.09588e-20	0.002222	1	0
MYO9A	4649	broad.mit.edu	37	15	72252402	72252402	+	Silent	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:72252402T>G	ENST00000356056.5	-	14	2494	c.2022A>C	c.(2020-2022)ccA>ccC	p.P674P	MYO9A_ENST00000444904.1_Silent_p.P655P|MYO9A_ENST00000424560.1_Silent_p.P674P|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.P269P|MYO9A_ENST00000564571.1_Silent_p.P674P	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	674	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTACAATGTCTGGGCGCATAT	0.388000													3	27					0	0	0.004672	0	0
XIRP2	129446	broad.mit.edu	37	2	167992571	167992571	+	Splice_Site	SNP	A	A	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:167992571A>C	ENST00000409195.1	+	3	650	c.562_splice	c.e3+1	p.E187_splice	XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000420519.1_Splice_Site_p.E187_splice|XIRP2_ENST00000409043.1_Splice_Site_p.E187_splice|XIRP2_ENST00000295237.9_Splice_Site_p.E187_splice|XIRP2_ENST00000409728.1_Splice_Site_p.E187_splice|XIRP2_ENST00000409756.2_Splice_Site_p.E187_splice	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	12					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCATCTTTGAAGGTTAGCATA	0.368000													6	36					0	0	0.001984	0	0
OR13G1	441933	broad.mit.edu	37	1	247835569	247835569	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:247835569G>T	ENST00000359688.2	-	1	796	c.775C>A	c.(775-777)Cct>Act	p.P259T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGGAAGCAGGGCGGATATAG	0.468000													16	36					6.72482e-11	1.04862e-10	0.003163	1	0
SPEN	23013	broad.mit.edu	37	1	16255917	16255917	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:16255917C>T	ENST00000375759.3	+	11	3386	c.3182C>T	c.(3181-3183)gCc>gTc	p.A1061V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1061					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AATACTGTTGCCAGCCCCAAA	0.458000													7	79					0	0	0.003080	0	0
UROC1	131669	broad.mit.edu	37	3	126211342	126211342	+	Silent	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:126211342T>G	ENST00000290868.2	-	16	1580	c.1527A>C	c.(1525-1527)gcA>gcC	p.A509A	UROC1_ENST00000383579.3_Silent_p.A569A	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	509					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACAGGATCCTTGCCTGGGAGC	0.607000													3	14					0	0	0.004672	0	0
RYR2	6262	broad.mit.edu	37	1	237972326	237972326	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:237972326T>C	ENST00000366574.2	+	100	14741	c.14424T>C	c.(14422-14424)gaT>gaC	p.D4808D	RYR2_ENST00000360064.6_Silent_p.D4814D|RYR2_ENST00000542537.1_Silent_p.D4792D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4808					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)			AATGTGACGATATGCTAACAG	0.333000													38	121					0	0	0.006999	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802700	96802700	+	Missense_Mutation	SNP	C	C	A	rs147133669		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:96802700C>A	ENST00000371270.3	-	7	1190	c.1096G>T	c.(1096-1098)Gtg>Ttg	p.V366L	CYP2C8_ENST00000535898.1_Missense_Mutation_p.V264L|CYP2C8_ENST00000539050.1_Missense_Mutation_p.V280L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	366					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GCATGGGGCACACCGGTGGGG	0.488000													36	57					2.40579e-17	4.06115e-17	0.006230	1	0
SDAD1P1	157489	broad.mit.edu	37	8	26237541	26237541	+	RNA	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:26237541T>A	ENST00000519902.1	-	0	2407																											TCCTGGAATGTAACCTTTAGC	0.448000													20	24					0	0	0.007413	0	0
CHMP4C	92421	broad.mit.edu	37	8	82665420	82665420	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:82665420G>T	ENST00000297265.4	+	2	505	c.312G>T	c.(310-312)gaG>gaT	p.E104D		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	104	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CCAACACTGAGGTGTTGAGGA	0.458000													4	27					0.00024832	0.000317739	0.000248	1	0
LAMB4	22798	broad.mit.edu	37	7	107710162	107710162	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:107710162C>A	ENST00000388781.3	-	18	2376	c.2293G>T	c.(2293-2295)Ggg>Tgg	p.G765W	LAMB4_ENST00000388780.3_Missense_Mutation_p.G765W|LAMB4_ENST00000205386.4_Missense_Mutation_p.G765W	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	765					cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCCACAGCCCCATCATGCAGC	0.473000													42	40					2.24893e-16	3.7687e-16	0.002222	1	0
OR10A4	283297	broad.mit.edu	37	11	6898587	6898587	+	Missense_Mutation	SNP	C	C	G	rs112511001	byFrequency	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:6898587C>G	ENST00000379829.2	+	1	732	c.709C>G	c.(709-711)Cag>Gag	p.Q237E		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGGAAACATCAGGCATTCTC	0.512000													4	63					0	0	0.000248	0	0
TEX15	56154	broad.mit.edu	37	8	30700207	30700207	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:30700207C>A	ENST00000256246.2	-	1	6401	c.6327G>T	c.(6325-6327)atG>atT	p.M2109I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2109										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)		AAAAAGAAGCCATTTTTTCTT	0.363000													17	25					3.52763e-06	4.81516e-06	0.004990	1	0
GRM6	2916	broad.mit.edu	37	5	178416024	178416024	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:178416024G>T	ENST00000231188.5	-	6	1444	c.1266C>A	c.(1264-1266)ctC>ctA	p.L422L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.L422L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	422					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCCCAGGGCAGAGCGCCTGGT	0.627000													6	15					0.00198382	0.00244326	0.001984	1	0
ADAR	103	broad.mit.edu	37	1	154573642	154573642	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:154573642G>A	ENST00000368474.4	-	2	1675	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P	ADAR_ENST00000368471.3_Silent_p.P197P|ADAR_ENST00000292205.5_Silent_p.P535P	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	492					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTTTCTTGTAGGGTGAACACC	0.512000													6	67					0	0	0.001168	0	0
LRRC56	115399	broad.mit.edu	37	11	549998	549998	+	Splice_Site	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:549998G>A	ENST00000270115.7	+	7	923	c.423_splice	c.e7+1	p.K141_splice		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	141										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCACTTAAGGTGAGTCTGG	0.672000													9	52					0	0	0.006214	0	0
ITGA7	3679	broad.mit.edu	37	12	56092538	56092538	+	Silent	SNP	G	G	A	rs146864775	byFrequency	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:56092538G>A	ENST00000257880.7	-	7	1305	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	ITGA7_ENST00000452168.2_Silent_p.S225S|ITGA7_ENST00000394229.2_Silent_p.S318S|ITGA7_ENST00000394230.2_Silent_p.S322S|ITGA7_ENST00000347027.6_Silent_p.S318S|ITGA7_ENST00000555728.1_Silent_p.S362S|ITGA7_ENST00000257879.6_Silent_p.S318S|ITGA7_ENST00000553804.1_Silent_p.S322S			Q13683	ITA7_HUMAN	integrin, alpha 7	362					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGCCAAAGCCGGAGGTCAGGC	0.652000													13	40					0	0	0.001855	0	0
FREM2	341640	broad.mit.edu	37	13	39343885	39343885	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:39343885G>T	ENST00000280481.7	+	4	5797	c.5581G>T	c.(5581-5583)Gtg>Ttg	p.V1861L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1861					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCAGAGCCCGTGCTGGCTGC	0.552000													5	39					1.024e-07	1.48126e-07	0.000602	1	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529631	55529631	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:55529631C>G	ENST00000395468.3	+	3	491	c.314C>G	c.(313-315)cCa>cGa	p.P105R	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	105	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						TATCCAGCCCCAACTGTGCCG	0.617000													7	32					0	0	0.001984	0	0
NNMT	4837	broad.mit.edu	37	11	114183169	114183169	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:114183169G>T	ENST00000535401.1	+	5	1029	c.765G>T	c.(763-765)ctG>ctT	p.L255L	NNMT_ENST00000299964.3_Silent_p.L255L|NNMT_ENST00000541754.1_Silent_p.L60L|NNMT_ENST00000542647.1_Silent_p.L60L|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_Silent_p.L60L			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	255					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TTTTCTCCCTGGTGGCGAGGA	0.488000													38	81					2.77807e-22	4.90561e-22	0.003214	1	0
ZNF695	57116	broad.mit.edu	37	1	247162696	247162696	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:247162696C>A	ENST00000339986.7	-	3	360	c.213G>T	c.(211-213)agG>agT	p.R71S	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.R71S	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	71	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGGCTCTTTCCTTGCCTCCA	0.458000													17	39					2.39187e-15	3.97925e-15	0.008871	1	0
ATP10A	57194	broad.mit.edu	37	15	25959378	25959378	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:25959378C>T	ENST00000356865.6	-	10	1898	c.1787G>A	c.(1786-1788)aGg>aAg	p.R596K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	596					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAGCTCAAACCTCACCCTCAC	0.602000													8	23					0	0	0.004482	0	0
IGKJ4	28947	broad.mit.edu	37	2	89160406	89160406	+	RNA	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:89160406T>C	ENST00000452230.1	-	0	39				IGKJ4_ENST00000390239.2_RNA|AC096579.7_ENST00000430694.1_RNA																							ACGTTTGATCTCCACCTTGGT	0.433000													5	75					0	0	0.001984	0	0
SNHG14	104472715	broad.mit.edu	37	15	25479346	25479346	+	RNA	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:25479346T>C	ENST00000453082.2	+	0	1887					NR_003343.1																						GATGACCATATCCAGGTCCTG	0.542000													11	104					0	0	0.008291	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715525	65715525	+	RNA	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:65715525C>G	ENST00000532620.1	+	0	1288							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GGCCTCCAAGCGGAATGGAAA	0.587000													2	2					0	0	0.004672	0	0
PASK	23178	broad.mit.edu	37	2	242054766	242054766	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:242054766T>C	ENST00000403638.3	-	13	3226	c.3135A>G	c.(3133-3135)aaA>aaG	p.K1045K	PASK_ENST00000358649.4_Silent_p.K1045K|PASK_ENST00000405260.1_Silent_p.K1045K|PASK_ENST00000539818.1_Silent_p.K829K|PASK_ENST00000234040.4_Silent_p.K1045K|PASK_ENST00000544142.1_Silent_p.K859K	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1045	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTTTCCCAAGTTTGGGATCCT	0.458000													28	62					0	0	0.004656	0	0
ATP8B1	5205	broad.mit.edu	37	18	55319833	55319833	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:55319833G>A	ENST00000536015.1	-	25	3263	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.F1048F|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1048					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGTATGAAGAAGAGGATCA	0.458000													9	48					0	0	0.008291	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081368	126081368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:126081368C>A	ENST00000298317.4	-	1	219	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	RPUSD4_ENST00000533628.1_Nonsense_Mutation_p.E56*|FAM118B_ENST00000533050.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	56					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		GTGTCTTGTTCCCGTTTCTGG	0.562000													56	167					1.78197e-24	3.15878e-24	0.003610	1	0
UBR5	51366	broad.mit.edu	37	8	103341407	103341407	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:103341407G>C	ENST00000520539.1	-	11	1843	c.1237C>G	c.(1237-1239)Cga>Gga	p.R413G	UBR5_ENST00000521922.1_Missense_Mutation_p.R407G|UBR5_ENST00000220959.4_Missense_Mutation_p.R413G	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	413					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)			AATGTTGCTCGTGGATGATGT	0.308000													20	77					0	0	0.001523	0	0
POU2F2	5452	broad.mit.edu	37	19	42626700	42626700	+	Silent	SNP	G	G	A	rs145518520		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:42626700G>A	ENST00000389341.5	-	2	123	c.57C>T	c.(55-57)gcC>gcT	p.A19A	POU2F2_ENST00000560398.1_Silent_p.A19A|POU2F2_ENST00000560558.1_Silent_p.A19A|POU2F2_ENST00000533720.1_Silent_p.A19A|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000529952.1_Silent_p.A19A|POU2F2_ENST00000529067.1_Silent_p.A19A|POU2F2_ENST00000526816.2_Silent_p.A19A|POU2F2_ENST00000342301.4_Silent_p.A19A	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	19					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A19A(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CTTGCTTCTCGGCCTCCAGGG	0.627000													11	20					0	0	0.000978	0	0
ACLY	47	broad.mit.edu	37	17	40030157	40030157	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:40030157T>A	ENST00000352035.2	-	23	2679	c.2549A>T	c.(2548-2550)cAg>cTg	p.Q850L	ACLY_ENST00000393896.2_Missense_Mutation_p.Q840L|ACLY_ENST00000537919.1_Missense_Mutation_p.Q579L|ACLY_ENST00000353196.1_Missense_Mutation_p.Q840L|ACLY_ENST00000590151.1_Missense_Mutation_p.Q850L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	850					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GATGAGCTCCTGTCCTCGCTC	0.592000													4	36					0	0	0.000248	0	0
ITGBL1	9358	broad.mit.edu	37	13	102231637	102231637	+	Splice_Site	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:102231637G>T	ENST00000376180.3	+	5	805		c.e5-1		ITGBL1_ENST00000545560.2_Splice_Site|ITGBL1_ENST00000376162.3_Splice_Site	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)						cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTGGGTAAAGGCCATGGGAA	0.403000													17	49					1.02788e-11	1.63044e-11	0.004990	1	0
COL18A1	80781	broad.mit.edu	37	21	46900712	46900712	+	Silent	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:46900712A>G	ENST00000359759.4	+	12	2817	c.2796A>G	c.(2794-2796)ggA>ggG	p.G932G	COL18A1_ENST00000400337.2_Silent_p.G517G|COL18A1_ENST00000355480.5_Silent_p.G697G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	932	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ACGTCCCAGGACCCGCCGGCC	0.721000													7	5					0	0	0.004482	0	0
NCOA2	10499	broad.mit.edu	37	8	71075089	71075089	+	Splice_Site	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:71075089C>A	ENST00000452400.2	-	9	1014	c.832_splice	c.e9-1	p.G278_splice		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	278					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CGTGATCTTGCCTATTAAGTA	0.403000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								23	134					6.32553e-13	1.02276e-12	0.004656	1	0
THSD1	55901	broad.mit.edu	37	13	52952470	52952470	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:52952470C>T	ENST00000349258.4	-	4	2020	c.1476G>A	c.(1474-1476)ctG>ctA	p.L492L	THSD1_ENST00000544466.1_Silent_p.L166L|THSD1_ENST00000258613.4_Silent_p.L545L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	545						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TAGTTTCCGTCAGACCTTTCT	0.537000													50	128					0	0	0.003610	0	0
ADCY9	115	broad.mit.edu	37	16	4164527	4164527	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:4164527G>A	ENST00000294016.3	-	2	1455	c.917C>T	c.(916-918)tCc>tTc	p.S306F		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	306					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGTGCTCCTGGACCTCACCTG	0.607000													25	38					0	0	0.003954	0	0
APOBEC3A	200315	broad.mit.edu	37	22	39358102	39358102	+	Splice_Site	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:39358102G>C	ENST00000402255.1	+	5	673		c.e5-1		APOBEC3A_ENST00000249116.2_Splice_Site					apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					TCCCTTTTCAGAATTTAAGCA	0.577000													24	23					0	0	0.002780	0	0
HEXDC	284004	broad.mit.edu	37	17	80391653	80391653	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:80391653G>A	ENST00000337014.6	+	5	876	c.402G>A	c.(400-402)ctG>ctA	p.L134L	HEXDC_ENST00000327949.9_Silent_p.L134L|HEXDC_ENST00000577944.1_Silent_p.L134L	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	134					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACCAGGTCCTGGAGCTACACC	0.657000													7	23					0	0	0.003080	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281373	49281373	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:49281373G>C	ENST00000282018.3	+	1	423	c.420G>C	c.(418-420)atG>atC	p.M140I		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	140					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TCCTGGCAATGGTTCACCCCT	0.483000													50	80					0	0	0.003610	0	0
RPRD2	23248	broad.mit.edu	37	1	150444442	150444442	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:150444442G>C	ENST00000539519.1	+	11	2822	c.2800G>C	c.(2800-2802)Gat>Cat	p.D934H	RPRD2_ENST00000369068.4_Silent_p.T1006T|RPRD2_ENST00000401000.4_Silent_p.T980T|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	0	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCACGTCGACGATTGAATTTA	0.542000													97	180					0	0	0.003610	0	0
FRYL	285527	broad.mit.edu	37	4	48622678	48622678	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:48622678G>T	ENST00000537810.1	-	6	896	c.292C>A	c.(292-294)Cgg>Agg	p.R98R	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.R98R|FRYL_ENST00000507711.1_Silent_p.R98R|FRYL_ENST00000503238.1_Silent_p.R98R			O94915	FRYL_HUMAN	FRY-like	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTGCTAGACCGAGGCCTATAT	0.428000													14	89					1.67942e-08	2.48402e-08	0.006122	1	0
IGF2	3481	broad.mit.edu	37	11	2154291	2154291	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:2154291G>T	ENST00000416167.2	-	4	1635	c.469C>A	c.(469-471)Ccc>Acc	p.P157T	IGF2_ENST00000418738.2_Missense_Mutation_p.P157T|IGF2_ENST00000434045.2_Missense_Mutation_p.P213T|IGF2_ENST00000381395.1_Missense_Mutation_p.P157T|IGF2_ENST00000300632.5_Missense_Mutation_p.P157T|IGF2_ENST00000381406.4_Missense_Mutation_p.P160T|IGF2_ENST00000381392.1_Missense_Mutation_p.P160T|IGF2_ENST00000337883.6_Missense_Mutation_p.P157T|IGF2_ENST00000381389.1_Missense_Mutation_p.P157T			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	157					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GCAATCAGGGGACGGTGACGT	0.697000													5	66					0.000602214	0.000757917	0.000602	1	0
RHOBTB1	9886	broad.mit.edu	37	10	62634756	62634756	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:62634756C>A	ENST00000337910.5	-	9	2108	c.1771G>T	c.(1771-1773)Gtg>Ttg	p.V591L	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.V591L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	591					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCAATGCCCACGCCACTCGTG	0.498000													21	29					2.44723e-14	4.03486e-14	0.004656	1	0
EP300	2033	broad.mit.edu	37	22	41574498	41574498	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:41574498G>A	ENST00000263253.7	+	31	8002	c.6783G>A	c.(6781-6783)caG>caA	p.Q2261Q	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2261					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGCCTATCAGCAGCGACTCC	0.577000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				14	45					0	0	0.003163	0	0
NKAIN2	154215	broad.mit.edu	37	6	125139608	125139608	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:125139608T>C	ENST00000368417.1	+	6	671	c.611T>C	c.(610-612)aTg>aCg	p.M204T	NKAIN2_ENST00000545433.1_Missense_Mutation_p.M189T|NKAIN2_ENST00000546092.1_Missense_Mutation_p.M137T	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	204						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CTACAGCCTATGTACATGTAA	0.363000													14	31					0	0	0.004007	0	0
TBC1D32	221322	broad.mit.edu	37	6	121491651	121491651	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:121491651C>G	ENST00000275159.6	-	23	2592	c.2593G>C	c.(2593-2595)Gat>Cat	p.D865H	TBC1D32_ENST00000398197.2_Intron|TBC1D32_ENST00000398212.2_Intron					TBC1 domain family, member 32																		GTGTCCAGATCACAGCATATC	0.343000													11	23					0	0	0.000978	0	0
CDK16	5127	broad.mit.edu	37	X	47086816	47086816	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:47086816G>T	ENST00000457458.2	+	14	1761	c.1341G>T	c.(1339-1341)atG>atT	p.M447I	CDK16_ENST00000518022.1_Missense_Mutation_p.M441I|CDK16_ENST00000357227.4_Missense_Mutation_p.M441I|CDK16_ENST00000276052.6_Missense_Mutation_p.M515I	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	441							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						AGGATGCCATGAAACATCCAT	0.557000													8	7					3.09899e-07	4.42026e-07	0.004482	1	0
DNAJA1	3301	broad.mit.edu	37	9	33034271	33034271	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:33034271T>A	ENST00000330899.4	+	6	884	c.701T>A	c.(700-702)cTg>cAg	p.L234Q	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Missense_Mutation_p.L77Q	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	234					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		GAACCAGGACTGGAGCCAGGC	0.353000													18	24					0	0	0.001882	0	0
NUTM2F	54754	broad.mit.edu	37	9	97082608	97082608	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:97082608T>C	ENST00000335456.7	-	6	1225	c.1205A>G	c.(1204-1206)gAg>gGg	p.E402G	NUTM2F_ENST00000341207.4_Missense_Mutation_p.E402G|NUTM2F_ENST00000253262.4_Missense_Mutation_p.E417G					NUT family member 2F																		CCGTTGTCCCTCAGGCTCCCC	0.602000													3	86					0	0	0.004672	0	0
PHKA2	5256	broad.mit.edu	37	X	18924666	18924666	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:18924666C>T	ENST00000379942.4	-	25	3418	c.2753G>A	c.(2752-2754)gGa>gAa	p.G918E		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	918					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AATGATCAGTCCAATCCGGAG	0.602000													14	29					0	0	0.003163	0	0
LINC00477	144360	broad.mit.edu	37	12	24736421	24736421	+	RNA	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:24736421A>T	ENST00000483544.1	-	0	681					NR_029451.2																						GTGCTTGGCCATTTGGAGTTC	0.582000													9	20					0	0	0.004482	0	0
CC2D2A	57545	broad.mit.edu	37	4	15565064	15565064	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:15565064A>G	ENST00000424120.1	+	24	3355	c.3101A>G	c.(3100-3102)cAa>cGa	p.Q1034R	CC2D2A_ENST00000389652.5_Missense_Mutation_p.Q985R|CC2D2A_ENST00000503292.1_Missense_Mutation_p.Q1034R|CC2D2A_ENST00000413206.1_Missense_Mutation_p.Q1034R			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1034					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GTGACAGCCCAAAACCTGTCT	0.512000													3	8					0	0	0.004672	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608954	84608954	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:84608954C>G	ENST00000344803.2	+	4	3616	c.3569C>G	c.(3568-3570)tCa>tGa	p.S1190*		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CCAAGAATATCAGTTCCTCAA	0.413000													16	24					0	0	0.004007	0	0
ARPP21	10777	broad.mit.edu	37	3	35770885	35770885	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:35770885C>G	ENST00000187397.4	+	15	1772	c.1316C>G	c.(1315-1317)gCa>gGa	p.A439G	ARPP21_ENST00000458225.1_Missense_Mutation_p.A405G|ARPP21_ENST00000337271.5_Missense_Mutation_p.A385G|ARPP21_ENST00000444190.1_Missense_Mutation_p.A385G|ARPP21_ENST00000417925.1_Missense_Mutation_p.A405G	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	439						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCAGGTGTGGCAGCTGGCTCT	0.597000													13	31					0	0	0.001368	0	0
TRGV5	6978	broad.mit.edu	37	7	38389495	38389495	+	RNA	SNP	C	C	A	rs2012300	by1000genomes	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:38389495C>A	ENST00000390344.2	-	0	128																											CTTAAAACTCCGGCCCCACTC	0.542000													3	5					0.004672	0.0056705	0.004672	1	0
PYGL	5836	broad.mit.edu	37	14	51383756	51383756	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:51383756A>G	ENST00000216392.7	-	8	1255	c.923T>C	c.(922-924)aTc>aCc	p.I308T	PYGL_ENST00000544180.2_Missense_Mutation_p.I274T|PYGL_ENST00000532462.1_Missense_Mutation_p.I308T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	308					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACGGCGGATGATATCTTGCAA	0.463000													7	32					0	0	0.001984	0	0
SLC9C2	284525	broad.mit.edu	37	1	173503725	173503725	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:173503725C>A	ENST00000367714.3	-	16	2294	c.1872G>T	c.(1870-1872)atG>atT	p.M624I	SLC9C2_ENST00000536496.1_Intron|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	624					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GATGTATTATCATAGGATAAA	0.259000													9	23					1.12685e-05	1.50903e-05	0.004482	1	0
GLYCTK	132158	broad.mit.edu	37	3	52326297	52326297	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:52326297G>A	ENST00000354773.4	+	4	647	c.551G>A	c.(550-552)aGa>aAa	p.R184K	GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_Missense_Mutation_p.R184K|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Missense_Mutation_p.D116N|GLYCTK_ENST00000461183.1_Missense_Mutation_p.D159N|GLYCTK_ENST00000436784.2_Missense_Mutation_p.D243N|GLYCTK_ENST00000305690.8_Missense_Mutation_p.D243N	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	414					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CATCCTGTCAGATGTGGTGGG	0.607000													4	33					0	0	0.001168	0	0
RHAG	6005	broad.mit.edu	37	6	49585865	49585865	+	Silent	SNP	C	C	T	rs138437733		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:49585865C>T	ENST00000371175.4	-	3	434	c.408G>A	c.(406-408)acG>acA	p.T136T	RHAG_ENST00000229810.7_Silent_p.T136T	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	136					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GGGTGGGGCTCGTTTTTCCCA	0.373000													8	27					0	0	0.003080	0	0
PPM1H	57460	broad.mit.edu	37	12	63060977	63060977	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:63060977C>G	ENST00000228705.6	-	9	1678	c.1378G>C	c.(1378-1380)Gat>Cat	p.D460H	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	460	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCATCTGGATCACAGTTAGGA	0.403000													4	38					0	0	0.000602	0	0
GLDC	2731	broad.mit.edu	37	9	6536191	6536191	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:6536191A>G	ENST00000321612.6	-	23	2861	c.2711T>C	c.(2710-2712)aTg>aCg	p.M904T		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	904					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)	GGGCTCCACCATGAGGGTCCC	0.572000													3	20					0	0	0.004672	0	0
CNTN1	1272	broad.mit.edu	37	12	41327572	41327572	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:41327572G>T	ENST00000551295.2	+	9	994	c.877G>T	c.(877-879)Gct>Tct	p.A293S	CNTN1_ENST00000347616.1_Missense_Mutation_p.A293S|CNTN1_ENST00000547849.1_Missense_Mutation_p.A293S|CNTN1_ENST00000360099.3_Missense_Mutation_p.A293S|CNTN1_ENST00000547702.1_Missense_Mutation_p.A293S|CNTN1_ENST00000348761.2_Missense_Mutation_p.A282S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	293	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CACCTCTGGGGCTGTTCTTAA	0.408000													16	40					6.72482e-11	1.04862e-10	0.003163	1	0
KDR	3791	broad.mit.edu	37	4	55981508	55981508	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:55981508G>T	ENST00000263923.4	-	4	724	c.429C>A	c.(427-429)aaC>aaA	p.N143K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	143	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCACAGTTTTGTTTTTGTTCT	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	26					1.23904e-05	1.64966e-05	0.000602	1	0
CHI3L1	1116	broad.mit.edu	37	1	203150365	203150365	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:203150365C>G	ENST00000255409.3	-	7	761	c.636G>C	c.(634-636)tgG>tgC	p.W212C		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	212					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TGGTCCCACGCCAGGCTCCAT	0.522000													32	50					0	0	0.001786	0	0
C17orf53	78995	broad.mit.edu	37	17	42225314	42225314	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:42225314G>T	ENST00000319977.4	+	3	380	c.143G>T	c.(142-144)aGg>aTg	p.R48M	C17orf53_ENST00000585683.1_Missense_Mutation_p.R48M|C17orf53_ENST00000245382.6_Missense_Mutation_p.R48M	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	48										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTCTCTTCTAGGCCACAGGAG	0.582000													19	51					1.00905e-13	1.64596e-13	0.008871	1	0
IRAK1	3654	broad.mit.edu	37	X	153278081	153278081	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:153278081A>G	ENST00000369980.3	-	13	2146	c.1979T>C	c.(1978-1980)aTt>aCt	p.I660T	IRAK1_ENST00000369974.2_Missense_Mutation_p.I581T|IRAK1_ENST00000429936.2_Missense_Mutation_p.I656T|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393682.1_Missense_Mutation_p.I641T|IRAK1_ENST00000393687.2_Missense_Mutation_p.I630T	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	660					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTGATGATAATCTGCGGTGG	0.632000													7	30					0	0	0.003080	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021395	161021395	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:161021395C>G	ENST00000368013.3	-	10	1449	c.1129G>C	c.(1129-1131)Gaa>Caa	p.E377Q	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E200Q|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E377Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	377					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCAGTGCTTCTGCCTCAGGC	0.642000													4	80					0	0	0.000248	0	0
MAP4K4	9448	broad.mit.edu	37	2	102490607	102490607	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:102490607C>T	ENST00000413150.2	+	22	2499	c.2444C>T	c.(2443-2445)tCa>tTa	p.S815L	MAP4K4_ENST00000456652.1_Missense_Mutation_p.S699L|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S940L|MAP4K4_ENST00000350198.4_Missense_Mutation_p.S819L|MAP4K4_ENST00000347699.4_Missense_Mutation_p.S900L|MAP4K4_ENST00000302217.5_Missense_Mutation_p.S703L|MAP4K4_ENST00000324219.4_Missense_Mutation_p.S981L|MAP4K4_ENST00000425019.1_Missense_Mutation_p.S933L	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	900					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGGAAAGGCTCAGTGGTCAAT	0.443000													15	20					0	0	0.006122	0	0
H1FOO	132243	broad.mit.edu	37	3	129270038	129270038	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:129270038C>A	ENST00000324382.2	+	5	901	c.896C>A	c.(895-897)gCt>gAt	p.A299D	H1FOO_ENST00000503977.1_Missense_Mutation_p.A160D	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	299					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						AACACCAAGGCTGCTGCTCCT	0.592000													14	32					1.5842e-08	2.34696e-08	0.001855	1	0
PHF21B	112885	broad.mit.edu	37	22	45312398	45312398	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:45312398G>T	ENST00000313237.5	-	4	476	c.326C>A	c.(325-327)cCc>cAc	p.P109H	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000396103.3_Missense_Mutation_p.P109H|PHF21B_ENST00000404079.2_Missense_Mutation_p.P97H|PHF21B_ENST00000447824.3_Missense_Mutation_p.P97H	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	109							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGCTGGGCTGGGGTTCTTGAC	0.711000													18	35					7.41877e-09	1.1063e-08	0.001882	1	0
ACSM4	341392	broad.mit.edu	37	12	7476089	7476089	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:7476089G>T	ENST00000399422.4	+	9	1289	c.1241G>T	c.(1240-1242)gGc>gTc	p.G414V		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	414					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTACCACCTGGCAAAGAAGGG	0.368000													7	31					1.76689e-08	2.60504e-08	0.006214	1	0
OR8J1	219477	broad.mit.edu	37	11	56128025	56128025	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:56128025G>T	ENST00000303039.3	+	1	335	c.303G>T	c.(301-303)ctG>ctT	p.L101L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CCACCCAACTGGGAGGGTTCT	0.413000													15	78					0.000219431	0.000281951	0.002450	1	0
BAI1	575	broad.mit.edu	37	8	143623553	143623553	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:143623553G>A	ENST00000517894.1	+	28	4852	c.3958G>A	c.(3958-3960)Gtc>Atc	p.V1320I	BAI1_ENST00000323289.5_Missense_Mutation_p.V1320I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1320					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCCTCCTTCGTCGGTGACGG	0.667000													19	43					0	0	0.001882	0	0
AMDHD2	51005	broad.mit.edu	37	16	2580606	2580606	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:2580606G>C	ENST00000413459.3	+	11	1700	c.1631G>C	c.(1630-1632)gGt>gCt	p.G544A	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000382350.1_Missense_Mutation_p.P157A|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.P157A	NM_001145815.1	NP_001139287.1	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	0					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGCACAGGAGGTACGCGCCTG	0.572000													17	51					0	0	0.008871	0	0
ERC2	26059	broad.mit.edu	37	3	56173652	56173652	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:56173652A>G	ENST00000288221.6	-	6	1613	c.1358T>C	c.(1357-1359)tTa>tCa	p.L453S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	453						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTTTGTTTGTAAGGCAAGAAG	0.408000													4	11					0	0	0.000602	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176121	140176121	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:140176121C>A	ENST00000526136.1	+	1	1572	c.1572C>A	c.(1570-1572)gaC>gaA	p.D524E	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D524E|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D524E	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGGACCACGAGGAAG	0.692000													10	101					0.000673444	0.000841805	0.008291	1	0
RNF152	220441	broad.mit.edu	37	18	59483688	59483688	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:59483688C>A	ENST00000312828.3	-	2	1108	c.9G>T	c.(7-9)acG>acT	p.T3T		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	3					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCTGGGACAGCGTCTCCATGG	0.582000													13	46					0.00010058	0.000130882	0.001368	1	0
ZNF594	84622	broad.mit.edu	37	17	5086545	5086545	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:5086545G>A	ENST00000399604.4	-	1	1147	c.1007C>T	c.(1006-1008)aCa>aTa	p.T336I	ZNF594_ENST00000575779.1_Missense_Mutation_p.T336I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAGAAAAGCTGTGCGCCCACT	0.463000													61	99					0	0	0.003610	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22487119	22487119	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:22487119C>A	ENST00000396037.4	-	1	529	c.48G>T	c.(46-48)atG>atT	p.M16I	ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.M16I|ST8SIA1_ENST00000539510.1_5'UTR|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.M16I	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	16					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						CCAGTACAGCCATGGCCCCTC	0.701000													26	54					1.04121e-07	1.50143e-07	0.005443	1	0
MYO5B	4645	broad.mit.edu	37	18	47421320	47421320	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:47421320C>G	ENST00000285039.7	-	22	3335	c.3036G>C	c.(3034-3036)gaG>gaC	p.E1012D	MYO5B_ENST00000324581.6_Missense_Mutation_p.E153D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1012					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTTCCTCAGCTCATCTTTCT	0.627000													21	38					0	0	0.002780	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621815	65621815	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:65621815G>T	ENST00000327987.4	-	13	2369	c.2118C>A	c.(2116-2118)ggC>ggA	p.G706G		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	706										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCGTCTCGGCCCAGCTGGC	0.662000													15	55					7.93312e-07	1.11427e-06	0.002450	1	0
CNGA3	1261	broad.mit.edu	37	2	99012367	99012367	+	Missense_Mutation	SNP	C	C	T	rs143531659	byFrequency	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:99012367C>T	ENST00000393504.1	+	8	1151	c.734C>T	c.(733-735)aCg>aTg	p.T245M	CNGA3_ENST00000272602.2_Missense_Mutation_p.T245M|CNGA3_ENST00000436404.2_Missense_Mutation_p.T227M|CNGA3_ENST00000409937.1_Missense_Mutation_p.T249M	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	245					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CATTACAAGACGACCACGCAG	0.512000													18	49					0	0	0.007413	0	0
RRM1	6240	broad.mit.edu	37	11	4154860	4154860	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:4154860A>T	ENST00000300738.5	+	17	2177	c.1973A>T	c.(1972-1974)cAg>cTg	p.Q658L	RRM1_ENST00000537197.1_Missense_Mutation_p.Q320L|RRM1_ENST00000534285.1_Missense_Mutation_p.Q436L|RRM1_ENST00000423050.2_Missense_Mutation_p.Q561L	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	658					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATGAAAAACCAGATTATTGCA	0.413000													28	27					0	0	0.008361	0	0
TTN	7273	broad.mit.edu	37	2	179485223	179485223	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:179485223G>T	ENST00000589042.1	-	248	46249	c.46025C>A	c.(46024-46026)cCt>cAt	p.P15342H	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P12774H|TTN_ENST00000359218.5_Missense_Mutation_p.P6402H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P13701H|TTN_ENST00000342175.6_Missense_Mutation_p.P6469H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6277H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13701	Ig-like 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P12774H(2)|p.P6402H(1)|p.P6277H(1)|p.P6469H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTCAAAAGGCACTTCTTC	0.398000													21	51					8.04996e-18	1.36894e-17	0.001882	1	0
ATP10A	57194	broad.mit.edu	37	15	25959377	25959377	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:25959377C>A	ENST00000356865.6	-	10	1899	c.1788G>T	c.(1786-1788)agG>agT	p.R596S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	596					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCAGCTCAAACCTCACCCTCA	0.607000													8	24					1.12685e-05	1.50903e-05	0.004482	1	0
DOCK3	1795	broad.mit.edu	37	3	51312521	51312521	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:51312521A>G	ENST00000266037.9	+	25	2583	c.2560A>G	c.(2560-2562)Atc>Gtc	p.I854V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	854						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATCCCGCCGCATCCTGCTTCC	0.483000													5	183					0	0	0.000602	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359633	72359633	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:72359633C>T	ENST00000001146.2	-	6	1465	c.1262G>A	c.(1261-1263)cGg>cAg	p.R421Q	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R346Q|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R230Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	421					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCTCGCTCCGCGCCTGGCT	0.612000													19	25					0	0	0.008871	0	0
YWHAQ	10971	broad.mit.edu	37	2	9770361	9770361	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:9770361T>C	ENST00000381844.4	-	1	384	c.221A>G	c.(220-222)aAg>aGg	p.K74R	YWHAQ_ENST00000238081.3_Missense_Mutation_p.K74R			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	74					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CTGCAACTTCTTGTCGGAGGT	0.617000													26	105					0	0	0.003954	0	0
MIB2	142678	broad.mit.edu	37	1	1563074	1563074	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:1563074G>T	ENST00000357210.4	+	13	1935	c.1719G>T	c.(1717-1719)agG>agT	p.R573S	MIB2_ENST00000504599.1_Missense_Mutation_p.R529S|MIB2_ENST00000378708.1_Missense_Mutation_p.R479S|MIB2_ENST00000378710.3_Missense_Mutation_p.R537S|MIB2_ENST00000355826.5_Missense_Mutation_p.R616S|MIB2_ENST00000505820.2_Missense_Mutation_p.R630S|MIB2_ENST00000378712.1_Missense_Mutation_p.R450S|MIB2_ENST00000520777.1_Missense_Mutation_p.R626S|MIB2_ENST00000518681.1_Missense_Mutation_p.R565S|MIB2_ENST00000360522.4_Missense_Mutation_p.R538S	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	573					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCCACCAGGGTGCTCCTGA	0.716000													16	6					9.16793e-09	1.3604e-08	0.004990	1	0
OR6C76	390326	broad.mit.edu	37	12	55820169	55820169	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:55820169C>G	ENST00000328314.3	+	1	132	c.132C>G	c.(130-132)atC>atG	p.I44M		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TAACTATCATCTCCCTTACCC	0.423000													22	52					0	0	0.002780	0	0
AQP12A	375318	broad.mit.edu	37	2	241631679	241631679	+	Silent	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:241631679G>C	ENST00000429564.1	+	2	411	c.348G>C	c.(346-348)gcG>gcC	p.A116A	AQP12A_ENST00000337801.4_Silent_p.A104A			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	104						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGAAGCTGGCGGCACAGGGGC	0.677000													5	30					0	0	0.001984	0	0
HTR3E	285242	broad.mit.edu	37	3	183823738	183823738	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:183823738C>A	ENST00000415389.2	+	7	1372	c.906C>A	c.(904-906)acC>acA	p.T302T	HTR3E_ENST00000335304.2_Silent_p.T317T|HTR3E_ENST00000440596.2_Silent_p.T328T|HTR3E_ENST00000425359.2_Silent_p.T287T|HTR3E_ENST00000436361.2_Silent_p.T302T	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	302						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCTCCCCACCAGTGGCACCC	0.527000													18	123					1.01871e-10	1.58581e-10	0.008871	1	0
EXOC3L1	283849	broad.mit.edu	37	16	67221375	67221375	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:67221375G>A	ENST00000314586.6	-	5	1033	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	265	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GCAGGCAGCAGAGGTGACCCA	0.677000													9	14					0	0	0.004482	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751190	19751190	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:19751190C>A	ENST00000400113.3	-	4	1037	c.933G>T	c.(931-933)aaG>aaT	p.K311N		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	311					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGGCCATGTACTTGCCGTGGC	0.582000													13	91					4.36969e-10	6.68904e-10	0.001855	1	0
LRPPRC	10128	broad.mit.edu	37	2	44170944	44170944	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:44170944C>A	ENST00000260665.7	-	23	2443	c.2386G>T	c.(2386-2388)Gca>Tca	p.A796S		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	796					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTAAAGCTGCGCCATTTAGC	0.398000													8	105					0.000157383	0.000202791	0.003080	1	0
BNIP3P1	319138	broad.mit.edu	37	14	28734166	28734166	+	RNA	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:28734166C>A	ENST00000550043.1	+	0	571																											TCTTTAAACACCCGAAGCGCA	0.473000													4	26					0.000602214	0.000757917	0.000602	1	0
RYR2	6262	broad.mit.edu	37	1	237550680	237550680	+	Splice_Site	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:237550680G>C	ENST00000366574.2	+	9	993	c.676_splice	c.e9+1	p.G226_splice	RYR2_ENST00000360064.6_Splice_Site_p.G224_splice|RYR2_ENST00000542537.1_Splice_Site_p.G210_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	226	MIR 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)			GGCAGCCCAAGGTAAAAACTC	0.483000													8	53					0	0	0.003080	0	0
BAZ2A	11176	broad.mit.edu	37	12	57009375	57009375	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:57009375C>T	ENST00000179765.5	-	3	352	c.153G>A	c.(151-153)gtG>gtA	p.V51V	BAZ2A_ENST00000549884.1_Silent_p.V51V|BAZ2A_ENST00000551812.1_Silent_p.V53V|BAZ2A_ENST00000379441.3_Silent_p.V53V			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	53					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CATTAACATTCACATCCCCAT	0.443000													4	21					0	0	0.000248	0	0
LCTL	197021	broad.mit.edu	37	15	66845470	66845470	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:66845470G>T	ENST00000341509.5	-	9	1180	c.1049C>A	c.(1048-1050)aCg>aAg	p.T350K	LCTL_ENST00000537670.1_Missense_Mutation_p.T177K	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	350					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCCTTTCCGTGATGTACCG	0.512000													28	68					3.73808e-20	6.47653e-20	0.005443	1	0
COL20A1	57642	broad.mit.edu	37	20	61937242	61937242	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:61937242T>A	ENST00000422202.1	+	4	415	c.347T>A	c.(346-348)cTg>cAg	p.L116Q	COL20A1_ENST00000358894.6_Missense_Mutation_p.L116Q|COL20A1_ENST00000435874.1_Missense_Mutation_p.L116Q|COL20A1_ENST00000326996.6_Missense_Mutation_p.L116Q			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	116					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTTGAGGATCTGAAGAGTAGC	0.657000													6	20					0	0	0.001168	0	0
USH2A	7399	broad.mit.edu	37	1	215963535	215963535	+	Nonsense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:215963535T>A	ENST00000366943.2	-	51	10434	c.10048A>T	c.(10048-10050)Aag>Tag	p.K3350*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.K3350*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3350					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGTCATTCTTTTTAATATGT	0.393000										HNSCC(13;0.011)			5	60					0	0	0.001168	0	0
GTF2A1	2957	broad.mit.edu	37	14	81659001	81659001	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:81659001T>C	ENST00000553612.1	-	7	1198	c.795A>G	c.(793-795)acA>acG	p.T265T	GTF2A1_ENST00000434192.2_Silent_p.T226T	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	265					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		ATGGAGCTTGTGTTTGAGCAG	0.483000													4	84					0	0	0.000248	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773793	25773793	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:25773793C>A	ENST00000377905.4	+	8	997	c.878C>A	c.(877-879)cCa>cAa	p.P293Q	SLC17A4_ENST00000397076.2_Missense_Mutation_p.P63Q|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	293					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAATCCTTACCACTCTGGGCC	0.468000													30	38					4.22769e-11	6.66007e-11	0.006320	1	0
CWC22	57703	broad.mit.edu	37	2	180851422	180851422	+	Splice_Site	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:180851422C>A	ENST00000410053.3	-	4	505	c.206_splice	c.e4+1	p.R69_splice	CWC22_ENST00000295749.6_Splice_Site_p.R69_splice	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	69	Arg-rich.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CAACACTAACCGTGACTCCAT	0.343000													7	16					0.00307968	0.00376269	0.003080	1	0
APLP2	334	broad.mit.edu	37	11	129999018	129999018	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:129999018G>A	ENST00000263574.5	+	10	1444	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	APLP2_ENST00000528499.1_Missense_Mutation_p.A402T|APLP2_ENST00000543137.1_Missense_Mutation_p.A365T|APLP2_ENST00000345598.5_Missense_Mutation_p.A229T|APLP2_ENST00000338167.5_Missense_Mutation_p.A458T|APLP2_ENST00000278756.7_Missense_Mutation_p.A468T|APLP2_ENST00000539648.1_Missense_Mutation_p.A246T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	458					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GACCCACCTGGCCCGAGTGGA	0.572000													11	71					0	0	0.008291	0	0
CYR61	3491	broad.mit.edu	37	1	86048467	86048467	+	Silent	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:86048467C>G	ENST00000451137.2	+	5	1112	c.888C>G	c.(886-888)gtC>gtG	p.V296V		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	296	CTCK.|Heparin-binding (By similarity).				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		CCGAACCAGTCAGGTTTACTT	0.498000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	25					0	0	0.000978	0	0
PSMB1	5689	broad.mit.edu	37	6	170844361	170844361	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:170844361T>C	ENST00000262193.6	-	6	771	c.673A>G	c.(673-675)Ata>Gta	p.I225V	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	225					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	TTGGTCACTATGCAGATCCGG	0.498000													11	122					0	0	0.000978	0	0
CACHD1	57685	broad.mit.edu	37	1	65047878	65047878	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:65047878G>A	ENST00000371073.2	+	3	301	c.301G>A	c.(301-303)Gat>Aat	p.D101N	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.D50N			Q5VU97	CAHD1_HUMAN	cache domain containing 1	101					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCGTTACTTGGATGTGGTCAA	0.423000													4	51					0	0	0.001168	0	0
KCNT2	343450	broad.mit.edu	37	1	196227468	196227468	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:196227468T>C	ENST00000367433.5	-	25	3096	c.2995A>G	c.(2995-2997)Aga>Gga	p.R999G	KCNT2_ENST00000367431.4_Missense_Mutation_p.R957G|KCNT2_ENST00000294725.8_Missense_Mutation_p.R1023G|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1023						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGCCTTTTCTGCTCAGTCTT	0.517000													11	26					0	0	0.001368	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319478	21319478	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:21319478A>T	ENST00000583088.1	+	3	1719	c.824A>T	c.(823-825)gAc>gTc	p.D275V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D275V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CATGAGATTGACGAGGCCAGC	0.597000										Prostate(3;0.18)			9	46					0	0	0.004482	0	0
XIST	7503	broad.mit.edu	37	X	73071534	73071534	+	RNA	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:73071534G>A	ENST00000429829.1	-	0	1054					NR_001564.2																						CATTCAGATAGGTTTAGCTCA	0.438000													4	16					0	0	0.000602	0	0
SLC22A3	6581	broad.mit.edu	37	6	160831778	160831778	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:160831778C>G	ENST00000392145.1	+	5	902	c.875C>G	c.(874-876)cCc>cGc	p.P292R	SLC22A3_ENST00000275300.2_Missense_Mutation_p.P292R			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	292						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CCTGAGTCTCCCCGTTGGCTG	0.423000													12	41					0	0	0.001855	0	0
SREBF1	6720	broad.mit.edu	37	17	17718545	17718545	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:17718545C>T	ENST00000355815.4	-	14	2741	c.2572G>A	c.(2572-2574)Gat>Aat	p.D858N	SREBF1_ENST00000395757.1_Missense_Mutation_p.D574N|SREBF1_ENST00000338854.5_Missense_Mutation_p.D828N|SREBF1_ENST00000261646.5_Missense_Mutation_p.D828N	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	828					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TTGTCCCCATCAGCTGACCCA	0.607000													27	41					0	0	0.007291	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503789	140503789	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:140503789G>C	ENST00000194152.1	+	1	2209	c.2209G>C	c.(2209-2211)Gac>Cac	p.D737H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		737					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)			GCATCTGGTGGACGTAAGCGG	0.637000													7	136					0	0	0.001984	0	0
SGK1	6446	broad.mit.edu	37	6	134491563	134491563	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:134491563T>A	ENST00000367858.5	-	14	2021	c.1424A>T	c.(1423-1425)aAc>aTc	p.N475I	SGK1_ENST00000413996.3_Missense_Mutation_p.N394I|SGK1_ENST00000528577.1_Missense_Mutation_p.N408I|SGK1_ENST00000367857.5_Missense_Mutation_p.N370I|SGK1_ENST00000237305.7_Missense_Mutation_p.N380I|SGK1_ENST00000475719.2_Missense_Mutation_p.N336I	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	380					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CCGTAGGTCGTTGGGCCCACT	0.522000													20	49					0	0	0.001523	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449567	124449567	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:124449567G>A	ENST00000523984.1	+	5	549	c.321G>A	c.(319-321)gaG>gaA	p.E107E	WDYHV1_ENST00000287387.2_Silent_p.E167E|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_Silent_p.E167E|WDYHV1_ENST00000518125.1_Silent_p.E19E			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	167					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CCTGCATTGAGACTGGAGGTG	0.468000													11	14					0	0	0.002450	0	0
SLIT3	6586	broad.mit.edu	37	5	168199814	168199814	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:168199814C>T	ENST00000519560.1	-	14	1850	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	SLIT3_ENST00000404867.3_Silent_p.Q477Q|SLIT3_ENST00000332966.8_Silent_p.Q477Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	477	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTCTTGATCTGGCTGATGC	0.607000													17	28					0	0	0.004990	0	0
XIRP2	129446	broad.mit.edu	37	2	168106018	168106018	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:168106018C>A	ENST00000409195.1	+	9	8205	c.8116C>A	c.(8116-8118)Cca>Aca	p.P2706T	XIRP2_ENST00000409273.1_Missense_Mutation_p.P2484T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2706T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2531					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCAATTTCCCCAAATTTCAA	0.363000													20	53					1.96292e-10	3.04022e-10	0.001523	1	0
DIS3L	115752	broad.mit.edu	37	15	66604125	66604125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:66604125C>T	ENST00000319194.5	+	5	634	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	DIS3L_ENST00000441424.2_Nonsense_Mutation_p.Q74*|DIS3L_ENST00000319212.4_Nonsense_Mutation_p.Q208*	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	208					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCTATCCTTCAGTCTCGACG	0.458000													22	55					0	0	0.001882	0	0
OR5J2	282775	broad.mit.edu	37	11	55944440	55944440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:55944440C>A	ENST00000312298.1	+	1	347	c.347C>A	c.(346-348)tCa>tAa	p.S116*		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTCTTACTGTCAGTGATGGCC	0.473000													35	69					2.5098e-30	4.48353e-30	0.004878	1	0
ZNF33A	7581	broad.mit.edu	37	10	38343994	38343994	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:38343994G>C	ENST00000374618.3	+	5	1120	c.942G>C	c.(940-942)ttG>ttC	p.L314F	ZNF33A_ENST00000458705.2_Missense_Mutation_p.L313F|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.L313F|ZNF33A_ENST00000432900.2_Missense_Mutation_p.L320F	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	313						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGAGGAAATTGTGTCTGTCAC	0.403000													28	38					0	0	0.006320	0	0
ANK2	287	broad.mit.edu	37	4	114278911	114278911	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:114278911G>A	ENST00000357077.4	+	38	9190	c.9137G>A	c.(9136-9138)aGt>aAt	p.S3046N	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3013N|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3013					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GATTCTTGGAGTGAAATTCGG	0.418000													11	79					0	0	0.000978	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738056	19738056	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:19738056A>C	ENST00000222567.5	-	4	970	c.900T>G	c.(898-900)agT>agG	p.S300R		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	300	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTTGGTAACCACTGGAGTCAC	0.433000													10	297					0	0	0.008291	0	0
SPTA1	6708	broad.mit.edu	37	1	158632514	158632514	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:158632514G>A	ENST00000368148.3	-	17	2622	c.2442C>T	c.(2440-2442)ccC>ccT	p.P814P	SPTA1_ENST00000368147.3_Silent_p.P814P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	814					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGTAGCTGAGGGTTCAGTCT	0.507000													16	37					0	0	0.008871	0	0
PTPRB	5787	broad.mit.edu	37	12	70965797	70965797	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:70965797C>A	ENST00000334414.6	-	12	2957	c.2913G>T	c.(2911-2913)gtG>gtT	p.V971V	PTPRB_ENST00000261266.5_Silent_p.V753V|PTPRB_ENST00000551525.1_Silent_p.V970V|PTPRB_ENST00000550857.1_Silent_p.V663V|PTPRB_ENST00000451516.2_Silent_p.V663V|PTPRB_ENST00000550358.1_Silent_p.V883V|PTPRB_ENST00000538708.1_Silent_p.V753V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	753	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGTGGCATGCACCCAGGATA	0.398000													18	139					3.32936e-07	4.73417e-07	0.006122	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140712092	140712092	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:140712092C>A	ENST00000517417.1	+	1	1841	c.1841C>A	c.(1840-1842)cCg>cAg	p.P614Q	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P614Q	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCGAGCCGGGACTCTTC	0.687000													17	26					0.000229342	0.000294274	0.001882	1	0
ARID2	196528	broad.mit.edu	37	12	46246464	46246464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:46246464G>T	ENST00000334344.6	+	15	4730	c.4558G>T	c.(4558-4560)Gag>Tag	p.E1520*	ARID2_ENST00000457135.1_Nonsense_Mutation_p.E128*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.E1130*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.E1371*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1520					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAGGCCAGCAGAGGATACTGA	0.458000			"""N, S, F"""		hepatocellular carcinoma								7	44					0.00307968	0.00376269	0.003080	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73185097	73185097	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:73185097C>G	ENST00000286657.4	-	9	1340	c.1304G>C	c.(1303-1305)cGt>cCt	p.R435P		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	435	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R435H(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAGTGGTAACGATGGAATGC	0.463000													3	72					0	0	0.004672	0	0
DSTYK	25778	broad.mit.edu	37	1	205117405	205117405	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:205117405C>A	ENST00000367162.3	-	12	2560	c.2530G>T	c.(2530-2532)Ggc>Tgc	p.G844C	DSTYK_ENST00000367161.3_Intron|DSTYK_ENST00000367160.4_Missense_Mutation_p.G503C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	844	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTGACAGAGCCTGAGCAGATA	0.473000													26	55					1.04121e-07	1.50143e-07	0.005443	1	0
ZNF257	113835	broad.mit.edu	37	19	22271699	22271699	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:22271699C>A	ENST00000594947.1	+	4	1291	c.1147C>A	c.(1147-1149)Cgg>Agg	p.R383R		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCCTTTAACCGGTCTTCACA	0.378000													9	11					0.000673444	0.000841805	0.008291	1	0
CLTCL1	8218	broad.mit.edu	37	22	19230340	19230340	+	Silent	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:19230340G>C	ENST00000263200.10	-	4	711	c.639C>G	c.(637-639)gcC>gcG	p.A213A	CLTCL1_ENST00000427926.1_Silent_p.A213A|CLTCL1_ENST00000353891.5_Silent_p.A213A	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	213	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGAAAAGGGTGGCAGGCTTGG	0.507000			T	?	ALCL								6	92					0	0	0.001984	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711602	155711602	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:155711602A>G	ENST00000295101.2	+	3	1760	c.1283A>G	c.(1282-1284)tAc>tGc	p.Y428C		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	428					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GAAAAAGCCTACAGCTTGGGA	0.388000													19	46					0	0	0.007413	0	0
SEMA3C	10512	broad.mit.edu	37	7	80447727	80447727	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:80447727C>A	ENST00000265361.3	-	5	896	c.335G>T	c.(334-336)tGt>tTt	p.C112F	SEMA3C_ENST00000544525.1_Missense_Mutation_p.C130F|SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000419255.2_Missense_Mutation_p.C112F	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	112	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAAGTTCCCACAGCCGTGCTA	0.393000													11	14					3.07112e-06	4.19826e-06	0.000978	1	0
ITPR2	3709	broad.mit.edu	37	12	26818865	26818865	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:26818865C>G	ENST00000381340.3	-	14	1945	c.1529G>C	c.(1528-1530)aGg>aCg	p.R510T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	510	Inositol-1,4,5-triphosphate binding (By similarity).				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)					GTTTTGTTCCCTCATCAATTT	0.348000													13	33					0	0	0.001855	0	0
KIF5A	3798	broad.mit.edu	37	12	57970638	57970638	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:57970638G>T	ENST00000455537.2	+	20	2567	c.2293G>T	c.(2293-2295)Gag>Tag	p.E765*	KIF5A_ENST00000286452.5_Nonsense_Mutation_p.E676*	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	765					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAAGCTGCAGGAGCTGACGTG	0.502000													10	20					0.000442599	0.000559329	0.006214	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253637	32253637	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:32253637G>T	ENST00000332378.4	-	1	237	c.207C>A	c.(205-207)acC>acA	p.T69T		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	69						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GCCGGTAACAGGTTGGCTGGC	0.572000													19	45					4.96729e-08	7.21944e-08	0.008871	1	0
LTA4H	4048	broad.mit.edu	37	12	96412590	96412590	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:96412590T>C	ENST00000228740.2	-	8	944	c.803A>G	c.(802-804)tAt>tGt	p.Y268C	LTA4H_ENST00000552789.1_Missense_Mutation_p.Y244C|LTA4H_ENST00000413268.2_Missense_Mutation_p.Y244C	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	268	Substrate binding.				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						CATGCCACCATAAGGGAAGGA	0.388000													8	16					0	0	0.003080	0	0
DEFB119	245932	broad.mit.edu	37	20	29976934	29976934	+	Missense_Mutation	SNP	C	C	G	rs141277245		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:29976934C>G	ENST00000376315.2	-	2	160	c.161G>C	c.(160-162)cGt>cCt	p.R54P	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	0					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGTTAAATAACGACTAGGAAC	0.438000													17	59					0	0	0.007413	0	0
ADCY5	111	broad.mit.edu	37	3	123010042	123010042	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:123010042T>C	ENST00000462833.1	-	18	4457	c.3245A>G	c.(3244-3246)gAg>gGg	p.E1082G	ADCY5_ENST00000309879.5_Missense_Mutation_p.E732G|ADCY5_ENST00000491190.1_Missense_Mutation_p.E740G	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1082	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AACGTAGAACTCGGAGAAGTT	0.592000													5	39					0	0	0.000602	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849032	26849032	+	Splice_Site	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:26849032A>G	ENST00000376236.4	+	12	1610		c.e12-1			NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein						blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GCTTCTTTCTAGCACCCCCAA	0.403000													37	61					0	0	0.002522	0	0
IDO2	169355	broad.mit.edu	37	8	39836695	39836695	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:39836695A>T	ENST00000502986.2	+	4	586	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.Q102L	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	102					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGAGAGGCGCAGCCTGCAGAG	0.622000													4	4					0	0	0.000602	0	0
IL16	3603	broad.mit.edu	37	15	81592393	81592393	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:81592393C>A	ENST00000394660.2	+	14	3086	c.2726C>A	c.(2725-2727)cCt>cAt	p.P909H	IL16_ENST00000302987.4_Missense_Mutation_p.P909H|IL16_ENST00000394652.2_Missense_Mutation_p.P208H|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	909					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCGGGGTCCCCTGCAGCCTCC	0.657000													14	51					0.00244969	0.00301299	0.002450	1	0
KCNG3	170850	broad.mit.edu	37	2	42720020	42720020	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:42720020C>T	ENST00000306078.1	-	1	1217	c.622G>A	c.(622-624)Gac>Aac	p.D208N	KCNG3_ENST00000394973.4_Missense_Mutation_p.D208N	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	208						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						CTGCTCCGGTCATCCAGGCTG	0.682000													9	7					0	0	0.006214	0	0
FREM2	341640	broad.mit.edu	37	13	39425097	39425097	+	Silent	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:39425097C>G	ENST00000280481.7	+	10	6810	c.6594C>G	c.(6592-6594)ccC>ccG	p.P2198P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2198	Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGAAAAGCCCTGCATTCTTG	0.493000													9	59					0	0	0.004482	0	0
DXO	1797	broad.mit.edu	37	6	31939364	31939364	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:31939364G>A	ENST00000375349.3	-	2	500	c.89C>T	c.(88-90)cCc>cTc	p.P30L	DOM3Z_ENST00000375356.3_Missense_Mutation_p.P30L|DOM3Z_ENST00000478221.1_Intron|DOM3Z_ENST00000337523.5_Missense_Mutation_p.P30L			O77932	DOM3Z_HUMAN		30							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGGGTCTGTGGGCAGAGAAGG	0.582000													13	82					0	0	0.002450	0	0
UGP2	7360	broad.mit.edu	37	2	64114774	64114774	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:64114774C>G	ENST00000337130.5	+	8	1786	c.1310C>G	c.(1309-1311)aCg>aGg	p.T437R	UGP2_ENST00000467648.2_Missense_Mutation_p.T426R|UGP2_ENST00000394417.2_Missense_Mutation_p.T426R|UGP2_ENST00000445915.2_Missense_Mutation_p.T446R	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	437					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AGTTCTTTTACGAAGGTACGT	0.338000													3	97					0	0	0.000248	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873319	173873319	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:173873319C>A	ENST00000506823.1	+	10	1938	c.1281C>A	c.(1279-1281)tgC>tgA	p.C427*	GALNTL6_ENST00000508122.1_Nonsense_Mutation_p.C410*	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	427						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGCTCAAGTGCAAGGACTTCA	0.592000													11	27					3.07112e-06	4.19826e-06	0.000978	1	0
RIMS1	22999	broad.mit.edu	37	6	72678748	72678748	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:72678748A>C	ENST00000264839.7	+	2	227	c.227A>C	c.(226-228)cAg>cCg	p.Q76P	RIMS1_ENST00000520567.1_Missense_Mutation_p.Q76P|RIMS1_ENST00000517960.1_Missense_Mutation_p.Q76P|RIMS1_ENST00000522291.1_Missense_Mutation_p.Q76P|RIMS1_ENST00000491071.2_Missense_Mutation_p.Q76P|RIMS1_ENST00000518273.1_Missense_Mutation_p.Q76P|RIMS1_ENST00000348717.5_Missense_Mutation_p.Q76P|RIMS1_ENST00000521978.1_Missense_Mutation_p.Q76P			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	76	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCTGAAAACCAGCCCCACCAA	0.458000													17	52					0	0	0.007413	0	0
C19orf66	55337	broad.mit.edu	37	19	10200003	10200003	+	Translation_Start_Site	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:10200003A>T	ENST00000397881.3	+	0	468				C19orf66_ENST00000591813.1_Intron|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000253110.11_Intron			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66											large_intestine(3)|skin(1)	4						CGTGGCCTCAAAGGGGCGATA	0.562000													20	21					0	0	0.002299	0	0
POTEE	445582	broad.mit.edu	37	2	131976361	131976361	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:131976361T>C	ENST00000356920.5	+	1	480	c.386T>C	c.(385-387)aTg>aCg	p.M129T	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.M129T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	129							ATP binding										AGCGCCTTCATGGAGCCCAGG	0.597000													23	92					0	0	0.003330	0	0
TTC17	55761	broad.mit.edu	37	11	43465625	43465625	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:43465625G>A	ENST00000039989.4	+	18	2545	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R901H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	844							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGGTCAAACGTGTAAAGAAA	0.368000													29	47					0	0	0.007291	0	0
DOK6	220164	broad.mit.edu	37	18	67345002	67345002	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:67345002T>A	ENST00000382713.5	+	4	512	c.322T>A	c.(322-324)Tgc>Agc	p.C108S	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	108	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAAGCACCTCTGCATGGAGTG	0.537000													15	66					0	0	0.004007	0	0
TRPM2	7226	broad.mit.edu	37	21	45825862	45825862	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:45825862T>C	ENST00000397928.1	+	18	3177	c.2732T>C	c.(2731-2733)aTg>aCg	p.M911T	TRPM2_ENST00000300482.5_Missense_Mutation_p.M911T|TRPM2_ENST00000397932.2_Missense_Mutation_p.M911T|TRPM2_ENST00000300481.9_Missense_Mutation_p.M891T|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	911						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCGGCTCATGCACATTTTT	0.632000													8	134					0	0	0.003080	0	0
KLHL1	57626	broad.mit.edu	37	13	70681445	70681445	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:70681445C>A	ENST00000377844.4	-	1	1146	c.387G>T	c.(385-387)gtG>gtT	p.V129V	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	129					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGCCTGGCACCACCTCCTCCT	0.582000													14	65					1.49906e-05	1.99297e-05	0.002450	1	0
TRPM4	54795	broad.mit.edu	37	19	49671848	49671848	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:49671848G>T	ENST00000252826.5	+	6	777	c.651G>T	c.(649-651)ccG>ccT	p.P217P	TRPM4_ENST00000427978.2_Silent_p.P217P|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	217					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCGGTGACCCGGAGGACGGGG	0.652000													17	15					5.35267e-07	7.58776e-07	0.007413	1	0
GRIK1	2897	broad.mit.edu	37	21	31023452	31023452	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:31023452C>A	ENST00000399914.1	-	6	1461	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	GRIK1_ENST00000327783.4_Missense_Mutation_p.D314Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000309434.7_Missense_Mutation_p.D314Y|GRIK1_ENST00000399909.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.D314Y|GRIK1_ENST00000399907.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D314Y			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	314					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ATCATGCCATCCAAAAGGCCA	0.438000													14	43					4.36969e-10	6.68904e-10	0.001855	1	0
PDE4DIP	9659	broad.mit.edu	37	1	145015957	145015957	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:145015957C>A	ENST00000369359.4	-	3	382	c.344G>T	c.(343-345)aGa>aTa	p.R115I	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R115I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R44I|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R115I|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.R44I|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.R44I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCACCACTTCTCCAGATCTG	0.423000			T	PDGFRB	MPD								28	301					6.32553e-13	1.02276e-12	0.004656	1	0
TMIGD2	126259	broad.mit.edu	37	19	4294587	4294587	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:4294587T>A	ENST00000301272.2	-	4	584	c.539A>T	c.(538-540)cAa>cTa	p.Q180L	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Missense_Mutation_p.Q60L|TMIGD2_ENST00000595645.1_Missense_Mutation_p.Q180L	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	180						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGTCCCTTTGCTGGCAGCT	0.642000													15	262					0	0	0.002450	0	0
CENPF	1063	broad.mit.edu	37	1	214816616	214816616	+	Silent	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:214816616A>G	ENST00000366955.3	+	12	5103	c.4935A>G	c.(4933-4935)ctA>ctG	p.L1645L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1741					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GACTCCAGCTACAAGGTCTGG	0.478000													6	72					0	0	0.001984	0	0
AC096579.13	0	broad.mit.edu	37	2	89156832	89156832	+	RNA	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:89156832G>A	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA																							GATGGGAGGGGGTCAGGCTGG	0.602000													12	22					0	0	0.001368	0	0
LAMA3	3909	broad.mit.edu	37	18	21474905	21474905	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:21474905C>G	ENST00000313654.9	+	44	5737	c.5496C>G	c.(5494-5496)gaC>gaG	p.D1832E	LAMA3_ENST00000399516.3_Missense_Mutation_p.D1832E|LAMA3_ENST00000587184.1_Missense_Mutation_p.D223E|LAMA3_ENST00000269217.6_Missense_Mutation_p.D223E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1832	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGAACGACCTGGCCACCA	0.612000													6	15					0	0	0.001168	0	0
ABCB10	23456	broad.mit.edu	37	1	229666032	229666032	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:229666032C>A	ENST00000344517.4	-	8	1601	c.1559G>T	c.(1558-1560)gGa>gTa	p.G520V		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	520	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CGTGACAGATCCTGACGGAAT	0.517000													38	75					1.30998e-17	2.21541e-17	0.005524	1	0
SLC4A4	8671	broad.mit.edu	37	4	72222846	72222846	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:72222846G>T	ENST00000340595.3	+	3	736	c.540G>T	c.(538-540)ctG>ctT	p.L180L	SLC4A4_ENST00000425175.1_Silent_p.L224L|SLC4A4_ENST00000351898.6_Silent_p.L224L|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.L180L|SLC4A4_ENST00000264485.5_Silent_p.L224L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	224						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTCGGTCCCTGGCTGACATTG	0.473000													28	142					3.73988e-18	6.39534e-18	0.006320	1	0
SLC25A25	114789	broad.mit.edu	37	9	130868020	130868020	+	Missense_Mutation	SNP	C	C	T	rs150336698		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:130868020C>T	ENST00000373066.5	+	7	1161	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	SLC25A25_ENST00000373068.2_Missense_Mutation_p.R254C|SLC25A25_ENST00000433501.1_Missense_Mutation_p.R117C|SLC25A25_ENST00000373069.5_Missense_Mutation_p.R266C|SLC25A25_ENST00000432073.2_Missense_Mutation_p.R240C|SLC25A25_ENST00000373064.5_Missense_Mutation_p.R220C	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	220					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CCATGCCTCCCGCAGCAACAA	0.632000													24	46					0	0	0.007291	0	0
TMEM57	55219	broad.mit.edu	37	1	25783313	25783313	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:25783313G>T	ENST00000374343.4	+	5	822	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	TMEM57_ENST00000470035.1_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	215						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAAAAGAGGCCGAGGAAGG	0.403000													14	18					6.31663e-08	9.15165e-08	0.003163	1	0
FSCB	84075	broad.mit.edu	37	14	44974570	44974570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:44974570C>A	ENST00000340446.4	-	1	1912	c.1621G>T	c.(1621-1623)Gaa>Taa	p.E541*		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	541	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GACTGAGCTTCAGCAGGAGTT	0.493000													6	23					0.00116845	0.00144875	0.001168	1	0
TUBGCP3	10426	broad.mit.edu	37	13	113201997	113201997	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:113201997C>T	ENST00000261965.3	-	10	1291	c.1105G>A	c.(1105-1107)Gtt>Att	p.V369I	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V369I	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	369					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TAGGTCCAAACCAGGAGGCGC	0.488000													9	38					0	0	0.006214	0	0
TEX14	56155	broad.mit.edu	37	17	56682358	56682358	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:56682358G>A	ENST00000389934.3	-	11	1434	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	TEX14_ENST00000240361.8_Silent_p.I445I|TEX14_ENST00000349033.5_Silent_p.I439I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	445	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCCTGCATGATCATAGAAA	0.448000													20	46					0	0	0.002299	0	0
MAGI1	9223	broad.mit.edu	37	3	65367594	65367594	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:65367594C>A	ENST00000330909.8	-	17	2742	c.2743G>T	c.(2743-2745)Ggc>Tgc	p.G915C	MAGI1_ENST00000497477.2_Missense_Mutation_p.G887C|MAGI1_ENST00000483466.1_Missense_Mutation_p.G915C|MAGI1_ENST00000402939.2_Missense_Mutation_p.G887C	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	915					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTGACGTGGCCTTGCTTGGCA	0.473000													14	26					3.45872e-05	4.56531e-05	0.004007	1	0
RXFP1	59350	broad.mit.edu	37	4	159569729	159569729	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:159569729C>A	ENST00000307765.5	+	17	2086	c.1835C>A	c.(1834-1836)aCa>aAa	p.T612K	RXFP1_ENST00000470033.1_Missense_Mutation_p.T579K|RXFP1_ENST00000448688.2_Missense_Mutation_p.T507K|RXFP1_ENST00000343542.5_Missense_Mutation_p.T564K|RXFP1_ENST00000460056.2_Missense_Mutation_p.T531K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	612						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.T612R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGTGCCATAACAGCAACTGAA	0.318000													19	23					2.70639e-06	3.71624e-06	0.002299	1	0
AOX1	316	broad.mit.edu	37	2	201477459	201477459	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:201477459G>T	ENST00000374700.2	+	14	1632	c.1391G>T	c.(1390-1392)gGa>gTa	p.G464V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	464					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATCTCATATGGAGGCGTTGGT	0.468000													24	40					4.47668e-21	7.80027e-21	0.003954	1	0
SGTA	6449	broad.mit.edu	37	19	2757393	2757393	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:2757393C>T	ENST00000221566.2	-	11	1051	c.890G>A	c.(889-891)aGc>aAc	p.S297N		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	297					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGATCTGGCTCCTGAGCTG	0.682000													12	29					0	0	0.001855	0	0
TTC17	55761	broad.mit.edu	37	11	43428700	43428700	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:43428700C>T	ENST00000039989.4	+	14	1788	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R592C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	592							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTGCTTTCCCGTATTAATAA	0.299000													7	87					0	0	0.003080	0	0
RNASEH2B	79621	broad.mit.edu	37	13	51528088	51528088	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:51528088T>C	ENST00000336617.3	+	10	1188	c.789T>C	c.(787-789)acT>acC	p.T263T	RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	263					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AAGATTACACTAAGTTTAATA	0.378000													4	23					0	0	0.001168	0	0
RECQL4	9401	broad.mit.edu	37	8	145741937	145741937	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:145741937C>A	ENST00000428558.2	-	5	607	c.566G>T	c.(565-567)gGc>gTc	p.G189V	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	189			G -> S (in dbSNP:rs34371341).		DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGTAACCAGCCAGGATCTAG	0.612000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				6	14					0.00198382	0.00244326	0.001984	1	0
TSHZ2	128553	broad.mit.edu	37	20	51872111	51872111	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:51872111A>G	ENST00000371497.5	+	2	3001	c.2114A>G	c.(2113-2115)cAc>cGc	p.H705R	TSHZ2_ENST00000329613.6_Missense_Mutation_p.H702R|TSHZ2_ENST00000603338.2_Missense_Mutation_p.H702R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	705					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTGAACAATCACTTGGGCAAA	0.587000													11	21					0	0	0.001368	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501804	47501804	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:47501804C>G	ENST00000371901.3	+	6	986	c.736C>G	c.(736-738)Cgc>Ggc	p.R246G	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R245G|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	246						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCAGGGCTACCGCTTCCAGAA	0.438000													9	94					0	0	0.004482	0	0
LRRC32	2615	broad.mit.edu	37	11	76371261	76371261	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:76371261C>A	ENST00000407242.2	-	3	1618	c.1376G>T	c.(1375-1377)aGg>aTg	p.R459M	LRRC32_ENST00000260061.5_Missense_Mutation_p.R459M|LRRC32_ENST00000404995.1_Missense_Mutation_p.R459M|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	459						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGCCCCTGCCCTGAGCAGCTC	0.667000													11	10					0.000673444	0.000841805	0.008291	1	0
TNR	7143	broad.mit.edu	37	1	175365886	175365886	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:175365886T>A	ENST00000367674.1	-	5	1742	c.1034A>T	c.(1033-1035)gAa>gTa	p.E345V	TNR_ENST00000263525.2_Missense_Mutation_p.E345V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	345	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCGTCCCATTCCAGCTCAAT	0.597000													18	65					0	0	0.002780	0	0
PAX5	5079	broad.mit.edu	37	9	36882074	36882074	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:36882074G>A	ENST00000358127.4	-	8	1013	c.939C>T	c.(937-939)ccC>ccT	p.P313P	PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000522003.1_Silent_p.P205P|PAX5_ENST00000414447.1_Silent_p.P270P|PAX5_ENST00000377853.2_Silent_p.P313P|PAX5_ENST00000520281.1_Silent_p.P270P|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000446742.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	313					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GAGGGTACCCGGGGAGGGTCG	0.637000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								10	14					0	0	0.001855	0	0
LMOD2	442721	broad.mit.edu	37	7	123302408	123302408	+	Silent	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:123302408A>T	ENST00000458573.2	+	2	925	c.768A>T	c.(766-768)gcA>gcT	p.A256A	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	256						cytoskeleton	actin binding|tropomyosin binding										ACGACAGTGCAGCCATGGCCA	0.522000													13	26					0	0	0.001368	0	0
PKHD1	5314	broad.mit.edu	37	6	51524232	51524232	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:51524232G>T	ENST00000371117.3	-	61	10967	c.10692C>A	c.(10690-10692)gcC>gcA	p.A3564A		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3564					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACAGTGAGGGCCAAGTGAA	0.408000													15	39					4.14922e-12	6.61574e-12	0.004007	1	0
SLC1A6	6511	broad.mit.edu	37	19	15073023	15073023	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:15073023C>T	ENST00000598504.1	-	8	2085	c.726G>A	c.(724-726)cgG>cgA	p.R242R	SLC1A6_ENST00000600144.1_Silent_p.R242R|SLC1A6_ENST00000544886.2_Silent_p.R242R|SLC1A6_ENST00000430939.2_Silent_p.R178R|SLC1A6_ENST00000221742.3_Silent_p.R242R	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	242					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TACCCAAGGCCCGAGTGACAT	0.602000													21	36					0	0	0.001523	0	0
NAV3	89795	broad.mit.edu	37	12	78225437	78225437	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:78225437G>C	ENST00000397909.2	+	1	369	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	NAV3_ENST00000228327.6_Missense_Mutation_p.E66Q|NAV3_ENST00000536525.2_Missense_Mutation_p.E66Q|NAV3_ENST00000266692.7_Missense_Mutation_p.E66Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	66						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGAATTTGGAGAGAAGAAACC	0.433000										HNSCC(70;0.22)			15	34					0	0	0.002450	0	0
ATP6V1G2-DDX39B	100532737	broad.mit.edu	37	6	31513941	31513941	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:31513941T>C	ENST00000376185.1	-	2	150	c.128A>G	c.(127-129)gAg>gGg	p.E43G	ATP6V1G2_ENST00000483251.1_Missense_Mutation_p.E2G|ATP6V1G2_ENST00000483170.1_5'UTR|ATP6V1G2_ENST00000303892.5_Missense_Mutation_p.E43G|ATP6V1G2_ENST00000376151.4_Intron|ATP6V1G2-DDX39B_ENST00000475917.1_5'UTR																							TTGCTCCACCTCCATCTGTGC	0.582000													9	99					0	0	0.000978	0	0
DNAJC7	7266	broad.mit.edu	37	17	40148426	40148426	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:40148426C>T	ENST00000457167.4	-	4	544	c.308G>A	c.(307-309)gGc>gAc	p.G103D	DNAJC7_ENST00000426588.3_Missense_Mutation_p.G47D|DNAJC7_ENST00000316603.7_Missense_Mutation_p.G47D	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	103					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GTGGCACTTGCCCTCTCGTAG	0.488000													4	46					0	0	0.000248	0	0
CHRM2	1129	broad.mit.edu	37	7	136699890	136699890	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:136699890C>A	ENST00000445907.2	+	3	806	c.278C>A	c.(277-279)cCt>cAt	p.P93H	AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.P93H|CHRM2_ENST00000397608.3_Missense_Mutation_p.P93H|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P93H|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P93H|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P93H	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	93					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CCTTTGGGACCTGTGGTGTGT	0.463000													65	92					2.49587e-40	4.48477e-40	0.003610	1	0
ACSF3	197322	broad.mit.edu	37	16	89180747	89180747	+	Splice_Site	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:89180747G>C	ENST00000317447.4	+	6	1355	c.977_splice	c.e6-1	p.R326_splice	ACSF3_ENST00000406948.3_Splice_Site_p.R326_splice|ACSF3_ENST00000378345.4_Splice_Site_p.R61_splice|CTD-2555A7.3_ENST00000562782.1_RNA	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	326					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)		TGCCGCGTAGGCTGATGGTCT	0.622000													8	53					0	0	0.004482	0	0
NCBP1	4686	broad.mit.edu	37	9	100417207	100417207	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:100417207A>T	ENST00000375147.3	+	12	1472	c.1216A>T	c.(1216-1218)Aac>Tac	p.N406Y		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	406					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GGACACAATGAACACTACCTG	0.378000													5	25					0	0	0.000602	0	0
MYO18B	84700	broad.mit.edu	37	22	26165023	26165023	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:26165023C>A	ENST00000335473.7	+	4	1390	c.1140C>A	c.(1138-1140)agC>agA	p.S380R	MYO18B_ENST00000536101.1_Missense_Mutation_p.S380R|MYO18B_ENST00000407587.2_Missense_Mutation_p.S380R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	380						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGCTTCGGAGCACGACTGGGA	0.577000													10	8					0.000673444	0.000841805	0.008291	1	0
SOWAHB	345079	broad.mit.edu	37	4	77816752	77816752	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:77816752C>G	ENST00000334306.2	-	1	2250	c.2251G>C	c.(2251-2253)Gaa>Caa	p.E751Q		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	751																	CTAGATATTTCCTTGCTCTTG	0.483000													13	210					0	0	0.002450	0	0
COL7A1	1294	broad.mit.edu	37	3	48629395	48629395	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:48629395G>A	ENST00000328333.8	-	10	1400	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	COL7A1_ENST00000454817.1_Silent_p.I431I	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	431	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGAAAGGAGGATGGATGTGG	0.652000													18	58					0	0	0.004990	0	0
ACACA	31	broad.mit.edu	37	17	35601615	35601615	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:35601615C>G	ENST00000353139.5	-	21	3112	c.2631G>C	c.(2629-2631)caG>caC	p.Q877H	ACACA_ENST00000360679.3_Missense_Mutation_p.Q782H|ACACA_ENST00000335166.5_Missense_Mutation_p.Q762H|ACACA_ENST00000394406.2_Missense_Mutation_p.Q840H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	840					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTGCCGTGCTCTGGATCCGTG	0.463000													4	62					0	0	0.000248	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398110	77398110	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:77398110G>T	ENST00000282849.5	-	5	1365	c.947C>A	c.(946-948)aCa>aAa	p.T316K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	316	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGAATGTATGTGGTGACATT	0.443000													54	55					9.59835e-30	1.71133e-29	0.003610	1	0
TFDP2	7029	broad.mit.edu	37	3	141682740	141682740	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:141682740C>A	ENST00000499676.2	-	10	1289	c.618G>T	c.(616-618)ccG>ccT	p.P206P	TFDP2_ENST00000397991.4_Silent_p.P238P|TFDP2_ENST00000310282.6_Silent_p.P206P|TFDP2_ENST00000495310.1_Silent_p.P169P|TFDP2_ENST00000489671.1_Silent_p.P266P|TFDP2_ENST00000486111.1_Silent_p.P206P|TFDP2_ENST00000479040.1_Silent_p.P205P|TFDP2_ENST00000477292.1_Silent_p.P130P|TFDP2_ENST00000467072.1_Silent_p.P206P|TFDP2_ENST00000317104.7_Silent_p.P190P	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	266					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						AGTTCAGAGCCGGCGGGCCCT	0.413000													15	54					0.000308642	0.000391656	0.003163	1	0
RIMS1	22999	broad.mit.edu	37	6	72993758	72993758	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:72993758G>A	ENST00000521978.1	+	24	3491	c.3491G>A	c.(3490-3492)aGa>aAa	p.R1164K	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Missense_Mutation_p.R531K|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000425662.2_Missense_Mutation_p.R465K|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.R21K|RIMS1_ENST00000401910.3_Missense_Mutation_p.R545K	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1164					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGGCACTCCAGAAAGTCTGAA	0.378000													6	36					0	0	0.001168	0	0
ZMAT5	55954	broad.mit.edu	37	22	30127238	30127238	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:30127238C>T	ENST00000397781.3	-	7	739	c.489G>A	c.(487-489)ctG>ctA	p.L163L	CABP7_ENST00000216144.3_3'UTR|ZMAT5_ENST00000344318.3_Silent_p.L163L	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	163					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTCTGGGCTGCAGAGGCCACC	0.642000													21	37					0	0	0.002299	0	0
AFF2	2334	broad.mit.edu	37	X	148035185	148035185	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:148035185G>C	ENST00000370460.2	+	10	1952	c.1473G>C	c.(1471-1473)gaG>gaC	p.E491D	AFF2_ENST00000370457.5_Missense_Mutation_p.E458D|AFF2_ENST00000342251.3_Missense_Mutation_p.E458D|AFF2_ENST00000286437.5_Missense_Mutation_p.E132D	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	491					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCGAATCGGAGAGCAGCTCTG	0.557000													19	48					0	0	0.007413	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955553	12955553	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:12955553C>A	ENST00000235347.4	-	2	205	c.126G>T	c.(124-126)gaG>gaT	p.E42D		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	42										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		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)		TGCTGAAGGCCTCCATGAACA	0.582000													44	23					1.24741e-17	2.11347e-17	0.003610	1	0
SLFN11	91607	broad.mit.edu	37	17	33689860	33689860	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:33689860C>A	ENST00000394566.1	-	4	1239	c.967G>T	c.(967-969)Gca>Tca	p.A323S	SLFN11_ENST00000308377.4_Missense_Mutation_p.A323S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	323						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGAACACTGCACAGCAGAAG	0.473000													12	72					3.07112e-06	4.19826e-06	0.000978	1	0
RBM19	9904	broad.mit.edu	37	12	114404156	114404156	+	Translation_Start_Site	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:114404156T>A	ENST00000261741.5	-	0	20					NM_016196.3	NP_057280.2	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGCTGAGACCTTGGCCTGACC	0.602000											OREG0022146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0	0	0.000248	0	0
FKBP9	11328	broad.mit.edu	37	7	33035928	33035928	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:33035928C>A	ENST00000242209.4	+	7	1362	c.1193C>A	c.(1192-1194)gCc>gAc	p.A398D	FKBP9_ENST00000490776.2_Missense_Mutation_p.A166D|FKBP9_ENST00000538336.1_Missense_Mutation_p.A451D|FKBP9_ENST00000538443.1_Missense_Mutation_p.A260D|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	398	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CACTACAATGCCTCACTTCTG	0.542000													13	23					4.3838e-07	6.22391e-07	0.001855	1	0
POLQ	10721	broad.mit.edu	37	3	121217499	121217499	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:121217499C>A	ENST00000264233.5	-	13	2106	c.1978G>T	c.(1978-1980)Gat>Tat	p.D660Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	660					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTAGTCCAATCCTCAAACATA	0.333000								DNA polymerases (catalytic subunits)					7	16					8.12818e-05	0.00010592	0.001984	1	0
PATL1	219988	broad.mit.edu	37	11	59406554	59406554	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:59406554C>G	ENST00000300146.9	-	18	2342	c.2258G>C	c.(2257-2259)cGg>cCg	p.R753P	AP000442.1_ENST00000531311.1_RNA|AP000442.1_ENST00000531108.1_RNA	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	753	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CAGTTTCTGCCGGTCAACATA	0.468000													3	28					0	0	0.004672	0	0
ANK2	287	broad.mit.edu	37	4	114276323	114276323	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:114276323G>A	ENST00000357077.4	+	38	6602	c.6549G>A	c.(6547-6549)atG>atA	p.M2183I	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.M2150I|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2150					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCGACTACATGAAAGATGAGT	0.478000													19	45					0	0	0.007413	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882515	144882515	+	Silent	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:144882515C>G	ENST00000369359.4	-	27	3953	c.3915G>C	c.(3913-3915)gtG>gtC	p.V1305V	PDE4DIP_ENST00000530740.1_Silent_p.V1305V|PDE4DIP_ENST00000369354.3_Silent_p.V1168V|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Silent_p.V1168V|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1168					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCTCACAGTCACATTCCCCT	0.522000			T	PDGFRB	MPD								15	100					0	0	0.002450	0	0
CR1	1378	broad.mit.edu	37	1	207782702	207782702	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:207782702T>C	ENST00000367049.4	+	37	5964	c.5964T>C	c.(5962-5964)ttT>ttC	p.F1988F	CR1_ENST00000367053.1_Silent_p.F1538F|CR1_ENST00000400960.2_Silent_p.F1538F|CR1_ENST00000367052.1_Silent_p.F1538F|CR1_ENST00000367051.1_Silent_p.F1538F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1538					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAACATCTTTTCACAATGGAA	0.443000													3	55					0	0	0.004672	0	0
SSPO	23145	broad.mit.edu	37	7	149486743	149486743	+	RNA	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:149486743G>A	ENST00000378016.2	+	0	4517							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCTGCCTGGGGGCCATCCAG	0.647000													10	5					0	0	0.008291	0	0
NTRK1	4914	broad.mit.edu	37	1	156844387	156844387	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:156844387C>T	ENST00000368196.3	+	9	1322	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	NTRK1_ENST00000524377.1_Missense_Mutation_p.P407L|NTRK1_ENST00000358660.3_Missense_Mutation_p.P401L|NTRK1_ENST00000392302.2_Missense_Mutation_p.P371L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	407					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCTGGAGACCCGGTGGAGAAG	0.567000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			7	28					0	0	0.003080	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299602	125299602	+	Silent	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:125299602C>G	ENST00000538699.1	-	2	386	c.306G>C	c.(304-306)gcG>gcC	p.A102A	DCAF12L2_ENST00000360028.2_Silent_p.A102A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	102										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCACTGTGACGCGAACACCT	0.652000													11	13					0	0	0.000978	0	0
FAM168B	130074	broad.mit.edu	37	2	131840203	131840203	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:131840203C>A	ENST00000409185.1	-	2	124	c.17G>T	c.(16-18)aGt>aTt	p.S6I	FAM168B_ENST00000389915.3_Missense_Mutation_p.S6I	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	6										endometrium(3)|lung(2)	5						AGATCCAGGACTATAAACAGG	0.348000													3	8					0.004672	0.0056705	0.004672	1	0
KCNN3	3782	broad.mit.edu	37	1	154680722	154680722	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:154680722G>T	ENST00000271915.3	-	8	2241	c.1926C>A	c.(1924-1926)atC>atA	p.I642I	KCNN3_ENST00000361147.4_Silent_p.I337I|KCNN3_ENST00000358505.2_Silent_p.I329I	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	647	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGAGTTCTGTGATTAAGTCAT	0.527000													13	201					7.93312e-07	1.11427e-06	0.002450	1	0
SALL1	6299	broad.mit.edu	37	16	51174397	51174397	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:51174397G>C	ENST00000440970.1	-	2	1876	c.1445C>G	c.(1444-1446)cCc>cGc	p.P482R	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P579R	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	579					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATGGCTGATGGGGATGGGGGC	0.622000													6	40					0	0	0.001984	0	0
HMSD	284293	broad.mit.edu	37	18	61620711	61620711	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:61620711G>T	ENST00000408945.3	+	2	224	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S	HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	8						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ATCAGCCTTGGCCATGGTTTT	0.403000													4	14					0.00024832	0.000317739	0.000248	1	0
ANO4	121601	broad.mit.edu	37	12	101473000	101473000	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:101473000C>A	ENST00000392979.3	+	14	1598	c.1237C>A	c.(1237-1239)Cgg>Agg	p.R413R	ANO4_ENST00000299222.9_Silent_p.R15R|ANO4_ENST00000392977.3_Silent_p.R448R|ANO4_ENST00000550015.1_Silent_p.R15R	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	448						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGGAAAAGACGGCGAGCAGT	0.388000										HNSCC(74;0.22)			24	30					7.26314e-15	1.19966e-14	0.007291	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64697827	64697827	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:64697827G>A	ENST00000164133.2	+	7	1378	c.756G>A	c.(754-756)gtG>gtA	p.V252V		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	252					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCAATGGTGTGGCTGAGCTGC	0.577000													16	51					0	0	0.003163	0	0
CPA6	57094	broad.mit.edu	37	8	68396970	68396970	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:68396970A>G	ENST00000297770.4	-	7	906	c.691T>C	c.(691-693)Tat>Cat	p.Y231H	CPA6_ENST00000518549.1_Missense_Mutation_p.Y231H|CPA6_ENST00000297769.4_Missense_Mutation_p.Y83H	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	231					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATATAGAAATATAGATGATTC	0.353000													7	41					0	0	0.001984	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943150	12943150	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:12943150G>T	ENST00000235349.5	-	2	136	c.66C>A	c.(64-66)gaC>gaA	p.D22E		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	22										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)		CCAAAGCTTGGTCCCTTAGCA	0.577000													28	94					3.65163e-15	6.06408e-15	0.006320	1	0
ATP10A	57194	broad.mit.edu	37	15	25925042	25925042	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:25925042T>A	ENST00000356865.6	-	21	4057	c.3946A>T	c.(3946-3948)Agg>Tgg	p.R1316W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1316					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGCATCTCCTGGGGGACTTC	0.537000													13	76					0	0	0.001368	0	0
GHRH	2691	broad.mit.edu	37	20	35882723	35882723	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:35882723G>C	ENST00000373614.2	-	4	309	c.198C>G	c.(196-198)aaC>aaG	p.N66K	GHRH_ENST00000237527.3_Missense_Mutation_p.N66K|GHRH_ENST00000373611.2_Missense_Mutation_p.N66K			P01286	SLIB_HUMAN	growth hormone releasing hormone	66					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding	p.N66K(1)		lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				CTCGCTCTTGGTTGCTCTCTC	0.498000													25	121					0	0	0.004656	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935429	151935429	+	Silent	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:151935429G>C	ENST00000393902.3	-	3	1305	c.738C>G	c.(736-738)ctC>ctG	p.L246L	MAGEA3_ENST00000370278.3_Silent_p.L246L			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	246	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTTGGGTGAGCAGCTTCT	0.557000													32	47					0	0	0.008361	0	0
C17orf66	256957	broad.mit.edu	37	17	34191805	34191805	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:34191805G>C	ENST00000311880.2	-	4	558	c.410C>G	c.(409-411)cCc>cGc	p.P137R	C17orf66_ENST00000592980.1_Intron|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	137							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)		AGGCTCTAAGGGCCTGGATCG	0.522000													10	79					0	0	0.006214	0	0
NCOA7	135112	broad.mit.edu	37	6	126211940	126211940	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:126211940G>T	ENST00000368357.3	+	11	2432	c.2080G>T	c.(2080-2082)Gct>Tct	p.A694S	NCOA7_ENST00000229634.9_Missense_Mutation_p.A579S|NCOA7_ENST00000392477.2_Missense_Mutation_p.A694S	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	694					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GTACTGGTTTGCTGTTCCTCG	0.448000													19	29					3.5997e-14	5.91379e-14	0.002299	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84609725	84609725	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:84609725T>A	ENST00000344803.2	+	4	4387	c.4340T>A	c.(4339-4341)gTg>gAg	p.V1447E		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AACCCAGAAGTGCATGTCAGA	0.547000													13	21					0	0	0.003163	0	0
WDR78	79819	broad.mit.edu	37	1	67371051	67371051	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:67371051C>G	ENST00000371026.3	-	2	233	c.178G>C	c.(178-180)Gcc>Ccc	p.A60P	WDR78_ENST00000371022.3_Missense_Mutation_p.A60P|WDR78_ENST00000488333.1_5'UTR|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Missense_Mutation_p.A60P	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	60										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GGTTGTGTGGCATTGTTCCTA	0.313000													14	42					0	0	0.002450	0	0
AOX1	316	broad.mit.edu	37	2	201477458	201477458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:201477458G>T	ENST00000374700.2	+	14	1631	c.1390G>T	c.(1390-1392)Gga>Tga	p.G464*	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	464					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CATCTCATATGGAGGCGTTGG	0.463000													24	40					4.47668e-21	7.80027e-21	0.003954	1	0
T	6862	broad.mit.edu	37	6	166575985	166575985	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:166575985T>A	ENST00000296946.2	-	7	1322	c.854A>T	c.(853-855)cAc>cTc	p.H285L	T_ENST00000366871.3_Intron	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	285					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGAGGACCGGTGGCTCCTCAG	0.602000									Chordoma, Familial Clustering of				7	68					0	0	0.004482	0	0
PREX2	80243	broad.mit.edu	37	8	69028092	69028092	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:69028092G>C	ENST00000288368.4	+	26	3528	c.3251G>C	c.(3250-3252)cGg>cCg	p.R1084P		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1084					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AACAGCAAACGGGTATGTTTT	0.393000													6	52					0	0	0.003080	0	0
RBM10	8241	broad.mit.edu	37	X	47045016	47045016	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:47045016C>T	ENST00000377604.3	+	20	3084	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L	RBM10_ENST00000345781.6_Missense_Mutation_p.S704L|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Missense_Mutation_p.S703L	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	781					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAGCAGCTCTCAGGGCTCCAC	0.627000													5	3					0	0	0.001168	0	0
NF2	4771	broad.mit.edu	37	22	30057207	30057207	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:30057207C>T	ENST00000338641.4	+	8	1130	c.689C>T	c.(688-690)aCa>aTa	p.T230I	NF2_ENST00000361676.4_Missense_Mutation_p.T188I|NF2_ENST00000403999.3_Missense_Mutation_p.T230I|NF2_ENST00000403435.1_Missense_Mutation_p.T230I|NF2_ENST00000397789.3_Missense_Mutation_p.T230I|NF2_ENST00000361166.4_Missense_Mutation_p.T230I|NF2_ENST00000334961.7_Missense_Mutation_p.T147I|NF2_ENST00000347330.5_Missense_Mutation_p.T71I|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Missense_Mutation_p.T189I|NF2_ENST00000353887.4_Missense_Mutation_p.T147I	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	230	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(4)|p.N226_E270del(1)|p.K228fs*20(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AAAAAGGGCACAGAGCTGCTG	0.478000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				54	61					0	0	0.003610	0	0
TMEM254	80195	broad.mit.edu	37	10	81841615	81841615	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:81841615C>G	ENST00000372281.3	+	2	136	c.106C>G	c.(106-108)Cag>Gag	p.Q36E	TMEM254_ENST00000467529.1_3'UTR|TMEM254_ENST00000372275.1_Missense_Mutation_p.Q36E|TMEM254_ENST00000372277.3_Missense_Mutation_p.Q36E|TMEM254_ENST00000372274.1_Missense_Mutation_p.Q36E	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2			transmembrane protein 254																		CTTCTGGCCTCAGAGTATCCC	0.478000													51	78					0	0	0.003610	0	0
TNIK	23043	broad.mit.edu	37	3	170857325	170857325	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:170857325T>C	ENST00000436636.2	-	14	1697	c.1353A>G	c.(1351-1353)ttA>ttG	p.L451L	TNIK_ENST00000470834.1_Intron|TNIK_ENST00000460047.1_Silent_p.L451L|TNIK_ENST00000357327.5_Intron|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000369326.5_Intron|TNIK_ENST00000284483.8_Silent_p.L451L|TNIK_ENST00000538048.1_Silent_p.L451L|TNIK_ENST00000488470.1_Silent_p.L451L|TNIK_ENST00000475336.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	451	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTCCTCCTCTAACTGTCGCC	0.468000													3	150					0	0	0.000248	0	0
COL3A1	1281	broad.mit.edu	37	2	189868834	189868834	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:189868834G>A	ENST00000304636.3	+	39	2958	c.2788G>A	c.(2788-2790)Gga>Aga	p.G930R	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	930	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGCCAACCAGGAGAGAAGGG	0.507000													15	22					0	0	0.003163	0	0
SDAD1	55153	broad.mit.edu	37	4	76882455	76882455	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:76882455A>T	ENST00000356260.5	-	15	1306	c.1188T>A	c.(1186-1188)aaT>aaA	p.N396K	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.N359K	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	396				N -> S (in Ref. 1; CAH18368).	protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTTTATAGCATTGATTCTAG	0.373000													15	42					0	0	0.003163	0	0
FBXO47	494188	broad.mit.edu	37	17	37094922	37094922	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:37094922C>G	ENST00000378079.2	-	10	1346	c.1147G>C	c.(1147-1149)Gtc>Ctc	p.V383L		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	383										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GTGCTAAAGACTTTGCAGACT	0.378000													20	73					0	0	0.008871	0	0
ARMC4	55130	broad.mit.edu	37	10	28233208	28233208	+	Silent	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:28233208A>T	ENST00000305242.5	-	12	1778	c.1686T>A	c.(1684-1686)gtT>gtA	p.V562V	ARMC4_ENST00000545014.1_Silent_p.V87V|ARMC4_ENST00000537576.1_Silent_p.V254V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	562							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAAACTTGGCAACATTCGCGA	0.488000													14	14					0	0	0.003163	0	0
VPS36	51028	broad.mit.edu	37	13	52990159	52990159	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:52990159T>G	ENST00000378060.4	-	13	1087	c.1060A>C	c.(1060-1062)Aaa>Caa	p.K354Q		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	354					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TACCTTTCTTTGGCTAGGAGG	0.363000													14	26					0	0	0.003163	0	0
LRRC32	2615	broad.mit.edu	37	11	76371260	76371260	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:76371260C>G	ENST00000407242.2	-	3	1619	c.1377G>C	c.(1375-1377)agG>agC	p.R459S	LRRC32_ENST00000260061.5_Missense_Mutation_p.R459S|LRRC32_ENST00000404995.1_Missense_Mutation_p.R459S|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	459						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGGCCCCTGCCCTGAGCAGCT	0.662000													11	10					0	0	0.008291	0	0
RYR2	6262	broad.mit.edu	37	1	237823342	237823342	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:237823342T>C	ENST00000366574.2	+	55	8583	c.8266T>C	c.(8266-8268)Tta>Cta	p.L2756L	RYR2_ENST00000360064.6_Silent_p.L2754L|RYR2_ENST00000542537.1_Silent_p.L2740L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2756	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTTCAGCCATTAATGAAGCC	0.274000													8	14					0	0	0.006214	0	0
DUOXA2	405753	broad.mit.edu	37	15	45409476	45409476	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:45409476G>A	ENST00000323030.5	+	5	1027	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	248					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TCAGTACGGCGCCGCCTTCTG	0.662000													5	9					0	0	0.001168	0	0
DACH2	117154	broad.mit.edu	37	X	86067912	86067912	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:86067912C>G	ENST00000373131.1	+	7	1418	c.1255C>G	c.(1255-1257)Ctg>Gtg	p.L419V	DACH2_ENST00000510272.1_Missense_Mutation_p.L213V|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000373125.4_Missense_Mutation_p.L432V|DACH2_ENST00000508860.1_Missense_Mutation_p.L265V	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.L432M(1)|p.L419M(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAAGATACAGCTGACTCCTGG	0.448000													4	8					0	0	0.000248	0	0
OR51A7	119687	broad.mit.edu	37	11	4928886	4928886	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:4928886C>A	ENST00000359350.4	+	1	287	c.287C>A	c.(286-288)gCc>gAc	p.A96D	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACCTAATGCCTGCTTTGCT	0.463000													7	67					5.18039e-06	7.03982e-06	0.003080	1	0
PDE3B	5140	broad.mit.edu	37	11	14808179	14808179	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:14808179C>A	ENST00000282096.4	+	3	1579	c.1226C>A	c.(1225-1227)cCc>cAc	p.P409H	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	409					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGATTTTACCCCTGTTCTGAA	0.388000													12	128					0.000219431	0.000281951	0.002450	1	0
USP24	23358	broad.mit.edu	37	1	55539537	55539537	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:55539537T>C	ENST00000294383.6	-	64	7489	c.7490A>G	c.(7489-7491)tAc>tGc	p.Y2497C	USP24_ENST00000484447.1_5'UTR|USP24_ENST00000407756.1_Missense_Mutation_p.Y2337C	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2497					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GACACACTGGTAGCAGCGACT	0.378000													3	4					0	0	0.004672	0	0
APCS	325	broad.mit.edu	37	1	159558186	159558186	+	Silent	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:159558186A>T	ENST00000255040.2	+	2	457	c.360A>T	c.(358-360)tcA>tcT	p.S120S		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	120	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GGGAGTCCTCATCAGGTATTG	0.463000													15	33					0	0	0.003163	0	0
OR6A2	8590	broad.mit.edu	37	11	6816161	6816161	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:6816161C>G	ENST00000332601.3	-	1	967	c.779G>C	c.(778-780)aGt>aCt	p.S260T		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GATGAAGATACTGGCTGCATA	0.478000													8	66					0	0	0.003080	0	0
MYO5B	4645	broad.mit.edu	37	18	47390530	47390530	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:47390530C>A	ENST00000285039.7	-	28	4123	c.3824G>T	c.(3823-3825)cGa>cTa	p.R1275L	MYO5B_ENST00000324581.6_Missense_Mutation_p.R416L|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1275					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCCGGCGAGTCGCCGCTGGTC	0.612000													33	34					3.76114e-14	6.16799e-14	0.004289	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	17965158	17965158	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:17965158G>T	ENST00000361221.3	+	20	2304	c.2145G>T	c.(2143-2145)agG>agT	p.R715S	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R418S|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R488S|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.R473S|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.R710S|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R676S|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R676S	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	715					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCGTCTCAGGCTCCTGCTTC	0.622000													19	13					1.56452e-12	2.51637e-12	0.007413	1	0
PDE3A	5139	broad.mit.edu	37	12	20832967	20832967	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:20832967A>T	ENST00000359062.3	+	16	3228	c.3188A>T	c.(3187-3189)aAg>aTg	p.K1063M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1063	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	attttaGAAAAGAAGACTTTC	0.343000													6	17					0	0	0.001984	0	0
VWA8	23078	broad.mit.edu	37	13	42273253	42273253	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:42273253G>T	ENST00000379310.3	-	29	3586	c.3518C>A	c.(3517-3519)cCg>cAg	p.P1173Q		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		ACTTCCCAGCGGTGCCACTGT	0.453000													8	51					0.000157383	0.000202791	0.003080	1	0
RPL8	6132	broad.mit.edu	37	8	146017401	146017401	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:146017401G>A	ENST00000262584.3	-	2	346	c.114C>T	c.(112-114)caC>caT	p.H38H	RPL8_ENST00000527914.1_Silent_p.H38H|RPL8_ENST00000528957.1_Silent_p.H38H|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000394920.2_Silent_p.H38H	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	38					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)		TGATGTAGCCGTGCCGCTCAG	0.706000													15	37					0	0	0.004007	0	0
DDX55	57696	broad.mit.edu	37	12	124104045	124104045	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:124104045G>C	ENST00000238146.4	+	13	1450	c.1400G>C	c.(1399-1401)aGa>aCa	p.R467T	DDX55_ENST00000421670.3_Missense_Mutation_p.R74T|DDX55_ENST00000541259.1_3'UTR|DDX55_ENST00000538744.1_Missense_Mutation_p.R436T	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	467							ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CCAGAATTGAGAGGAAAGCAG	0.458000													10	76					0	0	0.000978	0	0
CYP11B2	1585	broad.mit.edu	37	8	143993949	143993949	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:143993949G>A	ENST00000323110.2	-	8	1397	c.1395C>T	c.(1393-1395)caC>caT	p.H465H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	465					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGCTTACGTGGTGCAGCAGCA	0.692000									Familial Hyperaldosteronism type I				11	31					0	0	0.008291	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:32725559C>T	ENST00000435145.2	-	4	809	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													3	18					0	0	0.000248	0	0
CNN1	1264	broad.mit.edu	37	19	11651909	11651909	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:11651909C>G	ENST00000252456.2	+	2	293	c.82C>G	c.(82-84)Cac>Gac	p.H28D	CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.H8D	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	28	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GAAGTATGACCACCAGCGGGA	0.627000													13	10					0	0	0.001368	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960152	117960152	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:117960152G>T	ENST00000310164.2	+	4	1452	c.945G>T	c.(943-945)agG>agT	p.R315S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ACAATTCCAGGGCTCAGTTTC	0.562000													26	28					7.41945e-09	1.1063e-08	0.005443	1	0
AQR	9716	broad.mit.edu	37	15	35189124	35189124	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:35189124C>G	ENST00000156471.5	-	22	2659	c.2434G>C	c.(2434-2436)Gct>Cct	p.A812P		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	812						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGCATTCCAGCACGGATGGCT	0.368000													6	18					0	0	0.001984	0	0
ITGB8	3696	broad.mit.edu	37	7	20438485	20438485	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:20438485G>T	ENST00000222573.3	+	9	1833	c.1149G>T	c.(1147-1149)aaG>aaT	p.K383N	ITGB8_ENST00000537992.1_Missense_Mutation_p.K248N	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	383	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CTCTGCAGAAGCTCATTTCAG	0.368000													7	29					2.0095e-06	2.78844e-06	0.001984	1	0
PTPRT	11122	broad.mit.edu	37	20	41100998	41100998	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:41100998C>A	ENST00000373198.3	-	8	1593	c.1358G>T	c.(1357-1359)cGc>cTc	p.R453L	PTPRT_ENST00000356100.2_Missense_Mutation_p.R453L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R453L|PTPRT_ENST00000373193.3_Missense_Mutation_p.R453L|PTPRT_ENST00000373187.1_Missense_Mutation_p.R453L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R453L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R453L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	453	Fibronectin type-III 2.		R -> C (in a gastric cancer).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATGAAGGGGCGCAGGCCTCG	0.602000													11	27					5.50884e-06	7.45313e-06	0.001368	1	0
UBASH3B	84959	broad.mit.edu	37	11	122647771	122647771	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:122647771C>T	ENST00000284273.5	+	3	630	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	85						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TGGATGACCCCCTGCCCCGGG	0.542000													12	52					0	0	0.002450	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839860	27839860	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:27839860A>T	ENST00000356790.2	+	3	682	c.437A>T	c.(436-438)aAg>aTg	p.K146M		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	146	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CAAATGTCCAAGAGCCAGTTC	0.433000													7	20					0	0	0.001984	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760585	176760585	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:176760585G>C	ENST00000367662.3	+	19	6151	c.4987G>C	c.(4987-4989)Gtg>Ctg	p.V1663L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1663	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.V1663fs*17(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTGAATTCTGTGGAGTACAA	0.433000													7	17					0	0	0.003080	0	0
SLC7A1	6541	broad.mit.edu	37	13	30104757	30104757	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:30104757C>A	ENST00000380752.5	-	5	1008	c.622G>T	c.(622-624)Gga>Tga	p.G208*		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	208					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCACAAATCCTGACACCATT	0.443000													9	70					0.000274275	0.000349492	0.004482	1	0
MYLK	4638	broad.mit.edu	37	3	123427595	123427595	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:123427595G>T	ENST00000360772.3	-	16	2468	c.2090C>A	c.(2089-2091)gCc>gAc	p.A697D	MYLK_ENST00000475616.1_Missense_Mutation_p.A697D|MYLK_ENST00000360304.3_Missense_Mutation_p.A697D|MYLK_ENST00000359169.1_Missense_Mutation_p.A697D|MYLK_ENST00000346322.5_Missense_Mutation_p.A628D			Q15746	MYLK_HUMAN	myosin light chain kinase	697	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTGTTCCAGGCCTCGCAGGT	0.602000													20	45					3.5997e-14	5.91379e-14	0.002299	1	0
SYCP1	6847	broad.mit.edu	37	1	115527385	115527385	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:115527385C>A	ENST00000369522.3	+	30	2839	c.2599C>A	c.(2599-2601)Caa>Aaa	p.Q867K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q867K|SYCP1_ENST00000477590.1_Intron	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	867					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAACTACAGCAAAGAGAAAA	0.269000													13	55					1.05317e-09	1.59887e-09	0.002450	1	0
QARS	5859	broad.mit.edu	37	3	49135892	49135892	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:49135892T>C	ENST00000306125.6	-	21	2315	c.1978A>G	c.(1978-1980)Agt>Ggt	p.S660G	QARS_ENST00000414533.1_Missense_Mutation_p.S649G			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	660					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ACCTCCAGACTCTCTACACAA	0.567000													23	32					0	0	0.003330	0	0
PPIL4	85313	broad.mit.edu	37	6	149847909	149847909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:149847909C>A	ENST00000253329.2	-	8	714	c.682G>T	c.(682-684)Gga>Tga	p.G228*		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	228					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GGTAGGTCTCCCACCTAAATT	0.343000													10	16					1.58986e-06	2.21954e-06	0.008291	1	0
OR51F1	256892	broad.mit.edu	37	11	4790646	4790646	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:4790646G>C	ENST00000380383.1	-	1	522	c.523C>G	c.(523-525)Ctc>Gtc	p.L175V	OR51F1_ENST00000343430.3_Missense_Mutation_p.L168V|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	168						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGAAATAGAGAGGCTTAAGG	0.393000													25	40					0	0	0.003330	0	0
KIF5A	3798	broad.mit.edu	37	12	57970637	57970637	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:57970637G>T	ENST00000455537.2	+	20	2566	c.2292G>T	c.(2290-2292)caG>caT	p.Q764H	KIF5A_ENST00000286452.5_Missense_Mutation_p.Q675H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	764					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCAAGCTGCAGGAGCTGACGT	0.502000													10	20					0.000442599	0.000559329	0.006214	1	0
CASQ1	844	broad.mit.edu	37	1	160160671	160160671	+	Missense_Mutation	SNP	G	G	A	rs140253806	byFrequency	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:160160671G>A	ENST00000368079.3	+	1	387	c.112G>A	c.(112-114)Gat>Aat	p.D38N	CASQ1_ENST00000368078.3_Missense_Mutation_p.D44N	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	44						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCTGAGTACGATGGTGTGGA	0.562000													7	51					0	0	0.003080	0	0
CNBD1	168975	broad.mit.edu	37	8	88218367	88218367	+	Splice_Site	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:88218367G>T	ENST00000518476.1	+	5	628		c.e5+1		CNBD1_ENST00000522427.1_Splice_Site	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1											breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGCAGCACAGGTAATAGACTA	0.348000													3	21					0.004672	0.0056705	0.004672	1	0
C11orf65	160140	broad.mit.edu	37	11	108302505	108302505	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:108302505G>T	ENST00000393084.1	-	3	211	c.142C>A	c.(142-144)Cgt>Agt	p.R48S	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000529391.1_Missense_Mutation_p.R48S	NM_152587.3	NP_689800.3	Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACTATCTGACGTGGTTCTCCT	0.299000													16	92					4.14922e-12	6.61574e-12	0.004007	1	0
SOGA3	387104	broad.mit.edu	37	6	127837551	127837551	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:127837551A>G	ENST00000556132.1	-	2	1073	c.209T>C	c.(208-210)gTt>gCt	p.V70A	SOGA3_ENST00000368268.2_Missense_Mutation_p.V70A|SOGA3_ENST00000525778.1_Missense_Mutation_p.V70A|SOGA3_ENST00000465909.2_Missense_Mutation_p.V70A|SOGA3_ENST00000481848.2_Missense_Mutation_p.V70A	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	70						integral to membrane											ctgctgcCGAACAGAATTGAG	0.677000													10	42					0	0	0.008291	0	0
KLHL1	57626	broad.mit.edu	37	13	70681444	70681444	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:70681444C>A	ENST00000377844.4	-	1	1147	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	130					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATGCCTGGCACCACCTCCTCC	0.587000													13	66					9.31168e-06	1.25428e-05	0.001855	1	0
MASP1	5648	broad.mit.edu	37	3	186937957	186937957	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:186937957A>G	ENST00000337774.5	-	16	2391	c.2002T>C	c.(2002-2004)Tgg>Cgg	p.W668R		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	668	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCATCACCCCAGGACACAGTG	0.567000											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	37					0	0	0.006320	0	0
REEP1	65055	broad.mit.edu	37	2	86479178	86479178	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:86479178G>C	ENST00000165698.5	-	5	462	c.319C>G	c.(319-321)Ctg>Gtg	p.L107V	REEP1_ENST00000541910.1_Intron|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000540790.1_Missense_Mutation_p.L86V|REEP1_ENST00000538924.1_Missense_Mutation_p.L114V|REEP1_ENST00000535845.1_Missense_Mutation_p.L80V	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	107					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCTTGGACCAGACAATCATCG	0.512000													24	81					0	0	0.002780	0	0
XIRP1	165904	broad.mit.edu	37	3	39229939	39229939	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:39229939G>T	ENST00000340369.3	-	2	1226	c.998C>A	c.(997-999)cCa>cAa	p.P333Q	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P333Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	333							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GATAAGGTCTGGGGATGGCTG	0.592000													18	57					2.94398e-08	4.32662e-08	0.007413	1	0
SLC22A3	6581	broad.mit.edu	37	6	160831779	160831779	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:160831779C>T	ENST00000392145.1	+	5	903	c.876C>T	c.(874-876)ccC>ccT	p.P292P	SLC22A3_ENST00000275300.2_Silent_p.P292P			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	292						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTGAGTCTCCCCGTTGGCTGA	0.428000													13	40					0	0	0.002450	0	0
DOCK2	1794	broad.mit.edu	37	5	169139223	169139223	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:169139223T>G	ENST00000256935.8	+	17	1735	c.1655T>G	c.(1654-1656)cTc>cGc	p.L552R	DOCK2_ENST00000520908.1_Intron|DOCK2_ENST00000540750.1_Intron	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	552	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAGTTGTCCTCAAGGTACCA	0.473000													20	30					0	0	0.008871	0	0
FAM47C	442444	broad.mit.edu	37	X	37027421	37027421	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:37027421C>G	ENST00000358047.3	+	1	990	c.938C>G	c.(937-939)tCa>tGa	p.S313*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	313										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTCCCAAGTCACGCGTATCT	0.597000													8	29					0	0	0.003080	0	0
JRKL	8690	broad.mit.edu	37	11	96124867	96124867	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:96124867G>T	ENST00000458427.1	+	1	1710	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.D352Y	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	352	DDE.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		AGAAGGTAATGACCTGAAATC	0.418000													10	41					1.76689e-08	2.60504e-08	0.006214	1	0
SMYD3	64754	broad.mit.edu	37	1	245927431	245927431	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:245927431T>C	ENST00000490107.1	-	11	1136	c.920A>G	c.(919-921)cAt>cGt	p.H307R	SMYD3_ENST00000388985.4_Missense_Mutation_p.H366R|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000541742.1_Missense_Mutation_p.H307R	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	366						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TCTGACGGGATGGCTTCCTGG	0.488000													13	32					0	0	0.002450	0	0
FAH	2184	broad.mit.edu	37	15	80464562	80464562	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:80464562T>C	ENST00000539156.1	+	7	2706	c.468T>C	c.(466-468)ttT>ttC	p.F156F	FAH_ENST00000407106.1_Silent_p.F226F|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Silent_p.F226F|FAH_ENST00000561421.1_Silent_p.F226F			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	226					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCACATTTTTGGAATGGTCC	0.493000									Tyrosinemia, type 1				8	75					0	0	0.008291	0	0
ARSG	22901	broad.mit.edu	37	17	66303649	66303649	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:66303649T>C	ENST00000448504.2	+	2	811	c.15T>C	c.(13-15)ttT>ttC	p.F5F	ARSG_ENST00000452479.2_Intron	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	5					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTGGCTTTTTCTAAAGGTTT	0.468000													8	92					0	0	0.004482	0	0
GNMT	27232	broad.mit.edu	37	6	42931185	42931185	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:42931185G>C	ENST00000372808.3	+	5	724	c.714G>C	c.(712-714)ttG>ttC	p.L238F		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	238					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	CTCCTGGCTTGAGGTACCACT	0.587000													8	26					0	0	0.003080	0	0
NDN	4692	broad.mit.edu	37	15	23931597	23931597	+	Silent	SNP	G	G	T	rs142210120	byFrequency	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:23931597G>T	ENST00000331837.4	-	1	853	c.768C>A	c.(766-768)ccC>ccA	p.P256P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	256	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACTCGTATTCGGGCGGCTCCA	0.562000									Prader-Willi syndrome				8	38					0.000157383	0.000202791	0.003080	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204214786	204214786	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:204214786C>T	ENST00000272203.3	-	14	2305	c.1989G>A	c.(1987-1989)agG>agA	p.R663R	PLEKHA6_ENST00000414478.1_Silent_p.R683R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	663										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGTTGTTCTTCCTCAGCCCCT	0.592000													10	83					0	0	0.008291	0	0
TTC21B	79809	broad.mit.edu	37	2	166740392	166740392	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:166740392C>T	ENST00000243344.7	-	26	3733	c.3596G>A	c.(3595-3597)aGt>aAt	p.S1199N	TTC21B_ENST00000536175.1_Missense_Mutation_p.S137N	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1199						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TAGCAGCCAACTCTTCTCAAA	0.408000													12	40					0	0	0.001368	0	0
OR5T2	219464	broad.mit.edu	37	11	56000297	56000297	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:56000297A>C	ENST00000313264.4	-	1	440	c.365T>G	c.(364-366)gTa>gGa	p.V122G		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CGTAAAATCTACTAACATATT	0.393000													5	48					0	0	0.000602	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37534627	37534627	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:37534627G>T	ENST00000299824.1	+	7	901	c.712G>T	c.(712-714)Gcc>Tcc	p.A238S	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	238					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)				CATAGCTGGAGCCAATGGATA	0.592000													15	40					2.32078e-09	3.5002e-09	0.003163	1	0
HSPD1	3329	broad.mit.edu	37	2	198363420	198363420	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:198363420C>T	ENST00000388968.3	-	2	420	c.153G>A	c.(151-153)gtG>gtA	p.V51V	HSPD1_ENST00000544407.1_Silent_p.V51V|HSPD1_ENST00000345042.2_Silent_p.V51V	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	51					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TTGTAACGGCCACAGCATCGG	0.408000													6	51					0	0	0.001984	0	0
EPHA10	284656	broad.mit.edu	37	1	38227347	38227347	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:38227347C>A	ENST00000373048.4	-	3	579	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	EPHA10_ENST00000427468.2_Missense_Mutation_p.D194Y|EPHA10_ENST00000319637.6_Missense_Mutation_p.D194Y	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	194						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGCCCACGTCCTGAAAGGCC	0.677000													7	50					0.000274275	0.000349492	0.004482	1	0
CCDC14	64770	broad.mit.edu	37	3	123633813	123633813	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:123633813T>A	ENST00000485727.1	-	9	6667	c.2075A>T	c.(2074-2076)cAa>cTa	p.Q692L	CCDC14_ENST00000310351.4_Missense_Mutation_p.Q732L|CCDC14_ENST00000433542.2_Missense_Mutation_p.Q851L|CCDC14_ENST00000489746.1_Missense_Mutation_p.Q692L|CCDC14_ENST00000483247.1_5'UTR|CCDC14_ENST00000488653.2_Missense_Mutation_p.Q892L			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	892						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GCCTTTCACTTGAAGGCTGTT	0.448000													11	31					0	0	0.001368	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32834085	32834085	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:32834085C>T	ENST00000420878.3	-	5	1269	c.814G>A	c.(814-816)Gtc>Atc	p.V272I	ZSCAN30_ENST00000333206.5_Missense_Mutation_p.V272I|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	272					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						GATTCAAGGACACTGTGTTCT	0.428000													32	66					0	0	0.001786	0	0
VRTN	55237	broad.mit.edu	37	14	74823625	74823625	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:74823625C>A	ENST00000256362.4	+	2	380	c.139C>A	c.(139-141)Cgg>Agg	p.R47R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	47					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCCACCTGCCGGGAGGGAGG	0.627000													6	40					3.59834e-05	4.73601e-05	0.001168	1	0
KIAA0907	22889	broad.mit.edu	37	1	155903447	155903447	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:155903447G>A	ENST00000368320.3	-	2	257	c.232C>T	c.(232-234)Cca>Tca	p.P78S	KIAA0907_ENST00000368319.3_Missense_Mutation_p.P78S|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.P78S			Q7Z7F0	K0907_HUMAN	KIAA0907	78										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTCTGAGTTGGTTTCAGCTTC	0.507000													5	12					0	0	0.001984	0	0
MYO5A	4644	broad.mit.edu	37	15	52664365	52664365	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:52664365T>G	ENST00000399231.3	-	21	3016	c.2773A>C	c.(2773-2775)Atg>Ctg	p.M925L	MYO5A_ENST00000399233.2_Missense_Mutation_p.M925L|MYO5A_ENST00000358212.6_Missense_Mutation_p.M925L|MYO5A_ENST00000553916.1_Missense_Mutation_p.M925L|MYO5A_ENST00000356338.6_Missense_Mutation_p.M925L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	925					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGTTCTCCATGCCGATGTGC	0.527000													19	48					0	0	0.006122	0	0
YARS	8565	broad.mit.edu	37	1	33245840	33245840	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:33245840C>A	ENST00000373477.4	-	11	2088	c.1180G>T	c.(1180-1182)Gtg>Ttg	p.V394L	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	394	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GCTTCCCCCACGTCAATCTTC	0.567000													32	67					6.50621e-10	9.92656e-10	0.002836	1	0
ARHGAP5	394	broad.mit.edu	37	14	32621727	32621727	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:32621727C>T	ENST00000345122.3	+	6	4489	c.4174C>T	c.(4174-4176)Cta>Tta	p.L1392L	ARHGAP5_ENST00000539826.2_Silent_p.L1392L|ARHGAP5_ENST00000556611.1_Silent_p.L1391L|ARHGAP5_ENST00000396582.2_Silent_p.L127L|ARHGAP5_ENST00000433497.1_Silent_p.L131L|ARHGAP5_ENST00000432921.1_Silent_p.L1391L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1392	Rho-GAP.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GATAACACATCTAAACAGGTA	0.279000													4	40					0	0	0.000248	0	0
PARK2	5071	broad.mit.edu	37	6	161969904	161969904	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:161969904G>T	ENST00000366898.1	-	9	1167	c.1065C>A	c.(1063-1065)ggC>ggA	p.G355G	PARK2_ENST00000366894.1_Silent_p.G164G|PARK2_ENST00000338468.3_Silent_p.G164G|PARK2_ENST00000366897.1_Silent_p.G327G|PARK2_ENST00000366896.1_Silent_p.G206G|PARK2_ENST00000366892.1_Silent_p.G355G	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	355					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCAGGCCATTGCCCCCTTCGC	0.597000													13	90					4.36969e-10	6.68904e-10	0.001855	1	0
DNAH8	1769	broad.mit.edu	37	6	38874088	38874088	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:38874088G>A	ENST00000359357.3	+	61	8856	c.8602G>A	c.(8602-8604)Gct>Act	p.A2868T	DNAH8_ENST00000449981.2_Missense_Mutation_p.A3085T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A2832T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTTGCTGGTGCTGATGGAAA	0.323000													7	12					0	0	0.003080	0	0
ERCC6	2074	broad.mit.edu	37	10	50732274	50732274	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:50732274T>C	ENST00000355832.5	-	5	1280	c.1202A>G	c.(1201-1203)gAc>gGc	p.D401G	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.D401G|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D401G|PGBD3_ENST00000603152.1_Missense_Mutation_p.D401G	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	401					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGCTCATAGTCAGTACCATC	0.547000								Direct reversal of damage;Nucleotide excision repair (NER)					3	40					0	0	0.004672	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144866667	144866667	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:144866667C>G	ENST00000369359.4	-	37	6021	c.5983G>C	c.(5983-5985)Gag>Cag	p.E1995Q	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1944Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1859Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1753Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1859Q|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1859					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGGATTCCTCCAGGCGCTGG	0.597000			T	PDGFRB	MPD								12	241					0	0	0.004656	0	0
PSG6	5675	broad.mit.edu	37	19	43414920	43414920	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:43414920G>C	ENST00000187910.2	-	3	583	c.518C>G	c.(517-519)cCg>cGg	p.P173R	PSG6_ENST00000292125.2_Missense_Mutation_p.P173R|PSG6_ENST00000402603.4_Missense_Mutation_p.P173R	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GCTTGCATCCGGAGTCTCAGG	0.532000													10	193					0	0	0.000978	0	0
GABRB3	2562	broad.mit.edu	37	15	26792940	26792940	+	Nonstop_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:26792940T>A	ENST00000541819.2	-	10	1692	c.1590A>T	c.(1588-1590)tgA>tgT	p.*530C	GABRB3_ENST00000311550.5_Nonstop_Mutation_p.*474C|GABRB3_ENST00000299267.4_Nonstop_Mutation_p.*474C|GABRB3_ENST00000400188.3_Nonstop_Mutation_p.*403C|GABRB3_ENST00000545868.1_Nonstop_Mutation_p.*389C			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	0					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTACAGTCACTCAGTTAACAT	0.373000													7	31					0	0	0.001984	0	0
BICC1	80114	broad.mit.edu	37	10	60549113	60549113	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:60549113T>A	ENST00000373886.3	+	7	696	c.692T>A	c.(691-693)aTa>aAa	p.I231K		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	231					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATTCAGCATATATCACAAACG	0.418000													15	40					0	0	0.002450	0	0
MIR7162	102466227	broad.mit.edu	37	15	62538749	62538749	+	RNA	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:62538749T>C	ENST00000570077.1	-	0	467																											GGCTTGAAGCTGTCCTGCCAG	0.577000													4	0					0	0	0.000248	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411426	210411426	+	Missense_Mutation	SNP	G	G	T	rs142929495	byFrequency	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:210411426G>T	ENST00000367012.3	+	2	351	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	41							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		AAGCCCCCCAGGGCCAGCACA	0.627000													34	46					9.80977e-26	1.74565e-25	0.004289	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101752	69101752	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:69101752C>A	ENST00000332644.5	-	4	437	c.276G>T	c.(274-276)aaG>aaT	p.K92N		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	92	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.K92K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGACATATTCCTTATATATAC	0.249000													9	22					0.000673444	0.000841805	0.008291	1	0
CRB2	286204	broad.mit.edu	37	9	126132895	126132895	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:126132895G>A	ENST00000373631.3	+	7	1564	c.1563G>A	c.(1561-1563)caG>caA	p.Q521Q	CRB2_ENST00000373629.2_Silent_p.Q189Q|CRB2_ENST00000359999.3_Silent_p.Q521Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	521	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATTGGCACCAGGTGGAGGTTG	0.632000													12	37					0	0	0.001855	0	0
NR1H4	9971	broad.mit.edu	37	12	100928704	100928704	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:100928704T>C	ENST00000548884.1	+	6	1164	c.623T>C	c.(622-624)cTg>cCg	p.L208P	NR1H4_ENST00000551379.1_Missense_Mutation_p.L222P|NR1H4_ENST00000392986.3_Missense_Mutation_p.L212P|NR1H4_ENST00000549996.1_Missense_Mutation_p.L161P|NR1H4_ENST00000188403.7_Missense_Mutation_p.L218P	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	222					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TCTAAGCGACTGAGAAAAAAT	0.418000													5	33					0	0	0.000602	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423737	47423737	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:47423737T>C	ENST00000404338.3	+	1	1805	c.1805T>C	c.(1804-1806)aTa>aCa	p.I602T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	602					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AACTTGGTTATATTGGGCAAA	0.418000													59	78					0	0	0.003610	0	0
OR4C6	219432	broad.mit.edu	37	11	55433091	55433091	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:55433091G>T	ENST00000314259.3	+	1	478	c.449G>T	c.(448-450)gGa>gTa	p.G150V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGGTGGGGGGATTTATGCAC	0.468000													9	62					1.58986e-06	2.21954e-06	0.008291	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281374	49281374	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:49281374G>T	ENST00000282018.3	+	1	424	c.421G>T	c.(421-423)Gtt>Ttt	p.V141F		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	141					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CCTGGCAATGGTTCACCCCTT	0.478000													50	81					2.48254e-18	4.26108e-18	0.003610	1	0
TMEM2	23670	broad.mit.edu	37	9	74345096	74345096	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:74345096G>A	ENST00000377044.4	-	9	2386	c.1847C>T	c.(1846-1848)aCt>aTt	p.T616I	TMEM2_ENST00000377066.5_Missense_Mutation_p.T553I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	616						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GTGGAACAAAGTATTCCTCTG	0.423000													11	33					0	0	0.000978	0	0
ANLN	54443	broad.mit.edu	37	7	36438750	36438750	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:36438750G>A	ENST00000265748.2	+	3	456	c.235G>A	c.(235-237)Gtt>Att	p.V79I	ANLN_ENST00000396068.2_Missense_Mutation_p.V79I	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	79	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGAAGTAGAAGTTTCTAACTT	0.383000													17	35					0	0	0.004990	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701339	48701339	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:48701339G>T	ENST00000352832.5	+	32	6123	c.5751G>T	c.(5749-5751)acG>acT	p.T1917T	CACNA1G_ENST00000514717.1_Silent_p.T1894T|CACNA1G_ENST00000510366.1_Silent_p.T1899T|CACNA1G_ENST00000513964.1_Silent_p.T1906T|CACNA1G_ENST00000514181.1_Silent_p.T1926T|CACNA1G_ENST00000513689.2_Silent_p.T1954T|CACNA1G_ENST00000507609.1_Silent_p.T1944T|CACNA1G_ENST00000514079.1_Silent_p.T1958T|CACNA1G_ENST00000505165.1_Silent_p.T1951T|CACNA1G_ENST00000515765.1_Silent_p.T1988T|CACNA1G_ENST00000515411.1_Silent_p.T1981T|CACNA1G_ENST00000510115.1_Silent_p.T1965T|CACNA1G_ENST00000512389.1_Silent_p.T1940T|CACNA1G_ENST00000507896.1_Silent_p.T1940T|CACNA1G_ENST00000507510.2_Silent_p.T1999T|CACNA1G_ENST00000515165.1_Silent_p.T1951T|CACNA1G_ENST00000354983.4_Silent_p.T2010T|CACNA1G_ENST00000503485.1_Silent_p.T1917T|CACNA1G_ENST00000359106.5_Silent_p.T2044T|CACNA1G_ENST00000360761.4_Silent_p.T1928T|CACNA1G_ENST00000507336.1_Silent_p.T2033T|CACNA1G_ENST00000358244.5_Silent_p.T1917T|CACNA1G_ENST00000502264.1_Silent_p.T1973T|CACNA1G_ENST00000442258.2_Silent_p.T1910T|CACNA1G_ENST00000429973.2_Silent_p.T1933T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2044					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCAGCCGAACGCACTCTCTGC	0.632000													4	49					0.000602214	0.000757917	0.000602	1	0
ZNF555	148254	broad.mit.edu	37	19	2853054	2853054	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:2853054A>G	ENST00000334241.4	+	4	1129	c.991A>G	c.(991-993)Atg>Gtg	p.M331V	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.M330V	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGAAGACACATGATAACACA	0.413000													15	27					0	0	0.004007	0	0
SEPT12	124404	broad.mit.edu	37	16	4835981	4835981	+	Splice_Site	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:4835981C>A	ENST00000268231.8	-	3	555	c.292_splice	c.e3+1	p.V98_splice	SEPT12_ENST00000591861.1_5'UTR|SEPT12_ENST00000396693.5_Splice_Site_p.V98_splice	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	98					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GCTCACTCACCATGGGTCAGT	0.622000													7	12					8.12818e-05	0.00010592	0.001984	1	0
OR2M5	127059	broad.mit.edu	37	1	248308451	248308451	+	Splice_Site	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:248308451T>G	ENST00000366476.1	+	1	2	c.0_splice	c.e1-1	p.M1_splice		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATATTCATCATGGCATGGGAG	0.413000													42	110					0	0	0.008740	0	0
FBN2	2201	broad.mit.edu	37	5	127710335	127710335	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:127710335C>A	ENST00000508053.1	-	21	3055	c.2081G>T	c.(2080-2082)gGa>gTa	p.G694V	FBN2_ENST00000262464.4_Missense_Mutation_p.G694V|FBN2_ENST00000508989.1_Missense_Mutation_p.G661V|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	694	EGF-like 10; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACACACACGTCCATCCATGCC	0.473000													20	41					2.70639e-06	3.71624e-06	0.002299	1	0
COL12A1	1303	broad.mit.edu	37	6	75890769	75890769	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:75890769T>A	ENST00000322507.8	-	11	2359	c.2050A>T	c.(2050-2052)Acc>Tcc	p.T684S	COL12A1_ENST00000416123.2_Missense_Mutation_p.T684S|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.T684S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	684	Fibronectin type-III 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAACACTGGTGCTCGATGCT	0.507000													8	52					0	0	0.004482	0	0
SDAD1	55153	broad.mit.edu	37	4	76882454	76882454	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:76882454C>A	ENST00000356260.5	-	15	1307	c.1189G>T	c.(1189-1191)Gct>Tct	p.A397S	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.A360S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	397					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCCTTTATAGCATTGATTCTA	0.368000													15	43					0.000308642	0.000391656	0.003163	1	0
BRE	9577	broad.mit.edu	37	2	28467646	28467646	+	Splice_Site	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:28467646G>C	ENST00000344773.2	+	10	989		c.e10-1		BRE_ENST00000379624.1_Splice_Site|BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000342045.2_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTATTACTTAGAGGTGTCGTG	0.333000													17	40					0	0	0.004007	0	0
KEAP1	9817	broad.mit.edu	37	19	10602872	10602872	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:10602872C>T	ENST00000171111.5	-	3	1253	c.706G>A	c.(706-708)Gac>Aac	p.D236N	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.D236N	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	236	BACK.		D -> H (in a NSCLC cell line).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ACGTTCAGGTCGTCCCGGCTG	0.622000													33	23					0	0	0.004289	0	0
SORL1	6653	broad.mit.edu	37	11	121383744	121383744	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:121383744C>T	ENST00000260197.7	+	7	1101	c.972C>T	c.(970-972)gtC>gtT	p.V324V	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	324					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGTCTTCTGTCCAGCTCTGGG	0.468000													19	45					0	0	0.007413	0	0
SLC38A6	145389	broad.mit.edu	37	14	61517306	61517306	+	Silent	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:61517306A>G	ENST00000354886.2	+	13	1166	c.1002A>G	c.(1000-1002)ttA>ttG	p.L334L	SLC38A6_ENST00000456840.2_Silent_p.L311L|SLC38A6_ENST00000267488.4_Silent_p.L334L	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	334					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CTGTGAAGTTATGCATACTAT	0.353000													5	26					0	0	0.000602	0	0
LSS	4047	broad.mit.edu	37	21	47648484	47648484	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:47648484T>A	ENST00000397728.3	-	2	122	c.44A>T	c.(43-45)aAg>aTg	p.K15M	LSS_ENST00000356396.4_Missense_Mutation_p.K15M|LSS_ENST00000457828.2_De_novo_Start_InFrame|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000522411.1_Missense_Mutation_p.K15M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	15					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGCTCGGTCTTGTAGGGGCC	0.761000													7	7					0	0	0.003080	0	0
CNNM2	54805	broad.mit.edu	37	10	104687115	104687115	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:104687115G>A	ENST00000369875.3	+	2	1799	c.1635G>A	c.(1633-1635)aaG>aaA	p.K545K	CNNM2_ENST00000369878.3_Intron|CNNM2_ENST00000457502.2_Intron|CNNM2_ENST00000433628.2_Intron	NM_199077.2	NP_951059.1	Q9H8M5	CNNM2_HUMAN	cyclin M2	0	CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACACAAACAAGAAACCCAAAT	0.343000													15	24					0	0	0.004990	0	0
CFH	3075	broad.mit.edu	37	1	196646790	196646790	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:196646790G>T	ENST00000367429.4	+	5	852	c.612G>T	c.(610-612)aaG>aaT	p.K204N	CFH_ENST00000439155.2_Missense_Mutation_p.K204N|CFH_ENST00000359637.2_Intron	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	204	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGAAACCAAAGTGTGTGGGTA	0.323000													13	35					2.23348e-06	3.07606e-06	0.004007	1	0
SLC9A4	389015	broad.mit.edu	37	2	103095375	103095375	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:103095375G>T	ENST00000295269.4	+	2	791	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	112					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCTGGTGGGCGGCATCATCTT	0.602000													13	36					0.000151284	0.000196031	0.001855	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995221	140995221	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:140995221G>T	ENST00000285879.4	+	4	2317	c.2031G>T	c.(2029-2031)caG>caT	p.Q677H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	677							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCAGAGTCCTGAGA	0.567000										HNSCC(15;0.026)			36	32					7.11191e-15	1.17679e-14	0.002836	1	0
LRP1	4035	broad.mit.edu	37	12	57560774	57560774	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:57560774G>T	ENST00000243077.3	+	18	3325	c.2859G>T	c.(2857-2859)tgG>tgT	p.W953C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	953	LDL-receptor class A 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCATCTCCTGGACGTGTGATC	0.637000													32	51					9.04072e-19	1.55758e-18	0.003271	1	0
GRIK3	2899	broad.mit.edu	37	1	37346247	37346247	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:37346247C>G	ENST00000373091.3	-	3	554	c.538G>C	c.(538-540)Gac>Cac	p.D180H	GRIK3_ENST00000373093.4_Missense_Mutation_p.D180H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	180					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTACTGTCGTCATAGACCACG	0.612000													26	173					0	0	0.005443	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091493	17091493	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:17091493C>A	ENST00000443236.1	-	14	1571	c.1540G>T	c.(1540-1542)Ggg>Tgg	p.G514W	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	467						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTTCTTCCCCAACCTATGGA	0.562000													21	28					1.96292e-10	3.04022e-10	0.001523	1	0
FAM126A	84668	broad.mit.edu	37	7	23017986	23017986	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:23017986G>C	ENST00000432176.2	-	4	467	c.235C>G	c.(235-237)Ctc>Gtc	p.L79V	FAM126A_ENST00000409763.1_Missense_Mutation_p.L79V|FAM126A_ENST00000409923.1_Missense_Mutation_p.L79V	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	79						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						AGTTCTGGGAGAAATTGCAGC	0.438000													9	29					0	0	0.006214	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686033	108686033	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:108686033A>C	ENST00000312143.7	-	3	1070	c.707T>G	c.(706-708)aTc>aGc	p.I236S	CMKLR1_ENST00000552995.1_Missense_Mutation_p.I234S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.I236S|CMKLR1_ENST00000397688.2_Missense_Mutation_p.I234S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.I236S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	236					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCAAGCTGTGATGATGAGGAC	0.552000													8	42					0	0	0.003080	0	0
GOLGA4	2803	broad.mit.edu	37	3	37369959	37369959	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:37369959A>T	ENST00000361924.2	+	15	6366	c.5992A>T	c.(5992-5994)Atg>Ttg	p.M1998L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.M2020L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1998	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAACAGCTGATGAGGGAGTT	0.378000													15	74					0	0	0.003163	0	0
OR4M2	390538	broad.mit.edu	37	15	22368701	22368701	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:22368701T>C	ENST00000332663.2	+	1	224	c.126T>C	c.(124-126)aaT>aaC	p.N42N	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TACCAGGAAATATCCTTATCA	0.413000													95	507					0	0	0.003610	0	0
TEP1	7011	broad.mit.edu	37	14	20864840	20864840	+	Silent	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:20864840C>G	ENST00000262715.5	-	10	1639	c.1599G>C	c.(1597-1599)ctG>ctC	p.L533L	TEP1_ENST00000556935.1_Silent_p.L425L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	533	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAACCCGCAGCAGGTTGCACA	0.547000													3	12					0	0	0.000248	0	0
CCNF	899	broad.mit.edu	37	16	2499292	2499292	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:2499292G>A	ENST00000397066.4	+	12	1316	c.1228G>A	c.(1228-1230)Gtg>Atg	p.V410M		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	410					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGTCCCCACTGTGGTGGATTA	0.662000													8	46					0	0	0.004482	0	0
ABCB5	340273	broad.mit.edu	37	7	20721220	20721220	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:20721220G>T	ENST00000404938.2	+	15	2452	c.1800G>T	c.(1798-1800)ctG>ctT	p.L600L	ABCB5_ENST00000258738.6_Silent_p.L155L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	155	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATGGAATGCTGGCGGAGAAAG	0.438000													20	27					3.51602e-12	5.63543e-12	0.008871	1	0
TENM3	55714	broad.mit.edu	37	4	183675829	183675829	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:183675829G>C	ENST00000511685.1	+	22	4432	c.4309G>C	c.(4309-4311)Gaa>Caa	p.E1437Q	TENM3_ENST00000406950.2_Missense_Mutation_p.E1437Q|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		AACAGATGGAGAAATCTCCTT	0.473000													16	20					0	0	0.004007	0	0
LOC101927905	101927905	broad.mit.edu	37	12	8388265	8388265	+	RNA	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:8388265C>G	ENST00000304751.9	+	0	255				FAM86FP_ENST00000427893.2_RNA																							CCCATGTGACCAGGCCTGTGG	0.627000													10	22					0	0	0.008291	0	0
SLC35F1	222553	broad.mit.edu	37	6	118228983	118228983	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:118228983G>A	ENST00000360388.4	+	1	295	c.94G>A	c.(94-96)Gag>Aag	p.E32K		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	32					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGCCGGCCGAGGGCAGCGG	0.736000													10	9					0	0	0.000978	0	0
LPAL2	80350	broad.mit.edu	37	6	160899605	160899605	+	RNA	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:160899605C>A	ENST00000335388.5	-	0	1279					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GACACTGATTCTGTTTCTGAG	0.483000													10	55					0.00621372	0.00749229	0.006214	1	0
SMC2	10592	broad.mit.edu	37	9	106889608	106889608	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:106889608A>T	ENST00000286398.7	+	20	2925	c.2637A>T	c.(2635-2637)aaA>aaT	p.K879N	SMC2_ENST00000374787.3_Missense_Mutation_p.K879N|SMC2_ENST00000374793.3_Missense_Mutation_p.K879N|SMC2_ENST00000303219.8_Missense_Mutation_p.K879N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	879					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CCAAGCAAAAAGAGGTGATAA	0.313000													19	24					0	0	0.008871	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949807	45949807	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:45949807C>A	ENST00000323084.4	-	5	729	c.664G>T	c.(664-666)Ggc>Tgc	p.G222C	TSPEAR_ENST00000397916.1_Missense_Mutation_p.G154C	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	222	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCGTCTGAGCCCGGCAGCAGG	0.682000													8	6					0.00621372	0.00749229	0.006214	1	0
CENPF	1063	broad.mit.edu	37	1	214822111	214822111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:214822111G>T	ENST00000366955.3	+	14	8092	c.7924G>T	c.(7924-7926)Gag>Tag	p.E2642*	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2738	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACTCAGTGGAGAGAAAAATAG	0.393000													8	21					0.000274275	0.000349492	0.004482	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156632250	156632250	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:156632250G>T	ENST00000296518.7	+	6	1142	c.933G>T	c.(931-933)agG>agT	p.R311S	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R311S|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R311S|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R311S|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R53S|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R311S|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R311S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	311					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)		TGATGAACAGGAGAGACTTTC	0.383000													16	21					3.45872e-05	4.56531e-05	0.004007	1	0
IL20RA	53832	broad.mit.edu	37	6	137322846	137322846	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:137322846C>T	ENST00000367748.1	-	6	1764	c.1178G>A	c.(1177-1179)tGc>tAc	p.C393Y	IL20RA_ENST00000541547.1_Missense_Mutation_p.C455Y|IL20RA_ENST00000316649.5_Missense_Mutation_p.C504Y			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	504						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AGAAGGCTCGCAGCCCTCTGA	0.582000													6	57					0	0	0.001168	0	0
SUN1	23353	broad.mit.edu	37	7	882848	882848	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:882848G>T	ENST00000456758.2	+	7	631	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	SUN1_ENST00000425407.2_Missense_Mutation_p.D103Y|SUN1_ENST00000457378.2_Missense_Mutation_p.D174Y|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000403868.1_Missense_Mutation_p.D153Y|SUN1_ENST00000401592.1_Missense_Mutation_p.D153Y|SUN1_ENST00000389574.3_Missense_Mutation_p.D103Y|SUN1_ENST00000405266.1_Missense_Mutation_p.D153Y			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	153	SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAGGTCTTGATGATGATGG	0.284000													18	65					5.03518e-11	7.91858e-11	0.007413	1	0
UTP18	51096	broad.mit.edu	37	17	49362671	49362671	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:49362671G>T	ENST00000225298.7	+	10	1327	c.1270G>T	c.(1270-1272)Ggc>Tgc	p.G424C		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	424					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TGTTGATGAAGGCAGTTTATA	0.378000													43	88					4.67007e-22	8.21503e-22	0.008740	1	0
RET	5979	broad.mit.edu	37	10	43615622	43615622	+	Missense_Mutation	SNP	G	G	A	rs121913309		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:43615622G>A	ENST00000355710.3	+	15	2933	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	RET_ENST00000340058.5_Missense_Mutation_p.E901K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	901	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.D898_E901del(2)|p.E901K(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGATGTTTATGAAGAGGATTC	0.592000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				5	12					0	0	0.000602	0	0
ASB17	127247	broad.mit.edu	37	1	76397843	76397843	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:76397843G>T	ENST00000284142.6	-	1	273	c.134C>A	c.(133-135)cCa>cAa	p.P45Q		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	45					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTAAATCCTTGGTTCGTAACA	0.398000													34	49					8.16277e-20	1.41161e-19	0.006999	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43934572	43934572	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:43934572G>T	ENST00000282406.4	+	11	1964	c.1854G>T	c.(1852-1854)ctG>ctT	p.L618L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	618	Ser-rich.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCCCTTTCCTGGATGACTCAT	0.532000													54	86					3.90926e-44	7.05199e-44	0.003610	1	0
SHROOM3	57619	broad.mit.edu	37	4	77676228	77676228	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:77676228C>T	ENST00000296043.6	+	7	5545	c.4592C>T	c.(4591-4593)cCt>cTt	p.P1531L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1531					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCACCCCCACCTCCTCCACCG	0.592000													12	34					0	0	0.001855	0	0
THY1	7070	broad.mit.edu	37	11	119290763	119290763	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:119290763C>T	ENST00000284240.5	-	3	1410	c.371G>A	c.(370-372)aGa>aAa	p.R124K	THY1_ENST00000527590.1_5'UTR|THY1_ENST00000580275.1_Missense_Mutation_p.R107K|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.R124K|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000498979.2_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	124	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		TGTCTCACCTCTGAGCACTGT	0.587000													11	22					0	0	0.008291	0	0
CASR	846	broad.mit.edu	37	3	122004013	122004013	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:122004013T>A	ENST00000498619.1	+	7	3680	c.3242T>A	c.(3241-3243)gTt>gAt	p.V1081D	CASR_ENST00000296154.5_Missense_Mutation_p.V1071D|CASR_ENST00000490131.1_Missense_Mutation_p.V1071D	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1071					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGCAGCACTGTTACAGAAAAC	0.532000													22	46					0	0	0.003330	0	0
ATP12A	479	broad.mit.edu	37	13	25280511	25280511	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:25280511G>T	ENST00000218548.6	+	15	2430	c.2097G>T	c.(2095-2097)ctG>ctT	p.L699L	ATP12A_ENST00000381946.3_Silent_p.L693L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	693					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGAACAGCTGGATGAGATCT	0.577000													9	36					3.09899e-07	4.42026e-07	0.004482	1	0
PHLDB3	653583	broad.mit.edu	37	19	43982285	43982285	+	Splice_Site	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:43982285C>A	ENST00000292140.5	-	15	2063		c.e15-1			NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3											breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TCTTCCTTGTCTGGTAGGGGA	0.502000													6	28					0.00448238	0.00546922	0.004482	1	0
KCNH1	3756	broad.mit.edu	37	1	210856730	210856730	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:210856730G>T	ENST00000367007.4	-	11	2951	c.2782C>A	c.(2782-2784)Ctc>Atc	p.L928I	KCNH1_ENST00000271751.4_Missense_Mutation_p.L955I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	955	CAD (involved in subunit assembly) (By similarity).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AATATCCTGAGTATCTCAGAG	0.483000													8	56					0.00307968	0.00376269	0.003080	1	0
HRG	3273	broad.mit.edu	37	3	186395387	186395387	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:186395387C>T	ENST00000232003.4	+	7	1373	c.1293C>T	c.(1291-1293)caC>caT	p.H431H		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	431	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GCCATGGCCACGGCCCACCAC	0.562000													5	34					0	0	0.000602	0	0
INTS5	80789	broad.mit.edu	37	11	62415525	62415525	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:62415525C>G	ENST00000330574.2	-	2	2079	c.2027G>C	c.(2026-2028)cGc>cCc	p.R676P		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	676					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CTGAGACAGGCGGGTGAGAAG	0.602000													3	42					0	0	0.004672	0	0
TBX5	6910	broad.mit.edu	37	12	114804159	114804159	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:114804159G>T	ENST00000310346.4	-	8	1459	c.793C>A	c.(793-795)Caa>Aaa	p.Q265K	TBX5_ENST00000349716.5_Missense_Mutation_p.Q215K|TBX5_ENST00000405440.2_Missense_Mutation_p.Q265K|TBX5_ENST00000526441.1_Missense_Mutation_p.Q265K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	265					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCACTTTTTGCCTCACGGTG	0.507000													14	80					4.36969e-10	6.68904e-10	0.001855	1	0
TOMM34	10953	broad.mit.edu	37	20	43585112	43585112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:43585112C>A	ENST00000372813.3	-	2	294	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	48					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CTTTCTTCTTCTGGGTCTGAA	0.473000													11	109					7.03913e-09	1.05301e-08	0.001368	1	0
APOB	338	broad.mit.edu	37	2	21235104	21235104	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:21235104A>G	ENST00000233242.1	-	26	4763	c.4636T>C	c.(4636-4638)Tcc>Ccc	p.S1546P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1546					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAGAGGTGGAGGTGAGGGAG	0.453000													29	25					0	0	0.001786	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182020	140182020	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:140182020T>G	ENST00000522353.2	+	1	1238	c.1238T>G	c.(1237-1239)cTg>cGg	p.L413R	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L413R|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGCCCTCTGGACCGCGAG	0.637000													77	87					0	0	0.003610	0	0
DOCK4	9732	broad.mit.edu	37	7	111541736	111541736	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:111541736C>T	ENST00000428084.1	-	14	1586	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.L438L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	438	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AACATACCTTCAGGGTTTGGC	0.368000													18	20					0	0	0.001523	0	0
HSPA2	3306	broad.mit.edu	37	14	65008250	65008250	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:65008250A>T	ENST00000247207.6	+	1	1065	c.683A>T	c.(682-684)gAc>gTc	p.D228V	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Missense_Mutation_p.D228V	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	228					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACGGCCGGCGACACCCACCTG	0.602000													9	47					0	0	0.008291	0	0
PDE6B	5158	broad.mit.edu	37	4	647709	647709	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:647709C>A	ENST00000255622.6	+	4	823	c.780C>A	c.(778-780)gcC>gcA	p.A260A	RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000429163.2_5'UTR|PDE6B_ENST00000496514.1_Silent_p.A260A|RP11-1191J2.2_ENST00000489312.1_RNA	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	260	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCCACAAGGCCTTCTACACGG	0.637000													5	54					2.0095e-06	2.78844e-06	0.001984	1	0
PCDHA5	56143	broad.mit.edu	37	5	140201762	140201762	+	Silent	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:140201762A>G	ENST00000529859.1	+	1	402	c.402A>G	c.(400-402)agA>agG	p.R134R	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.R134R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.R134R|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCTCCAGACAAGAACAAA	0.502000													31	36					0	0	0.007291	0	0
FARP1	10160	broad.mit.edu	37	13	99038060	99038060	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:99038060G>A	ENST00000376586.2	+	8	1087	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	FARP1_ENST00000595437.1_Missense_Mutation_p.V251M|FARP1_ENST00000319562.6_Missense_Mutation_p.V251M			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	251	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGGAATTCTAGTGTTTCAGGT	0.537000													10	32					0	0	0.006214	0	0
IBTK	25998	broad.mit.edu	37	6	82924358	82924358	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:82924358C>G	ENST00000306270.7	-	12	2339	c.1790G>C	c.(1789-1791)gGt>gCt	p.G597A	IBTK_ENST00000510291.1_Missense_Mutation_p.G597A|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	597	BTB 1.				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAAGTATTACCATCTGAAAG	0.358000													5	24					0	0	0.000602	0	0
OSGIN2	734	broad.mit.edu	37	8	90926337	90926337	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:90926337A>G	ENST00000451899.2	+	3	492	c.232A>G	c.(232-234)Atg>Gtg	p.M78V	OSGIN2_ENST00000297438.2_Missense_Mutation_p.M34V|OSGIN2_ENST00000520659.1_Missense_Mutation_p.M78V	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	34					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CCTTTCTTATATGTTATCAGG	0.353000													26	80					0	0	0.004656	0	0
IGSF3	3321	broad.mit.edu	37	1	117146448	117146448	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:117146448G>A	ENST00000369486.3	-	6	2187	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	IGSF3_ENST00000369483.1_Silent_p.S494S|IGSF3_ENST00000318837.6_Silent_p.S494S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	474	Ig-like C2-type 4.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCTCCCAGTAGGACGAGCCTG	0.622000													3	36					0	0	0.004672	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709094	128709094	+	Silent	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:128709094T>G	ENST00000392665.2	-	2	1189	c.1045A>C	c.(1045-1047)Agg>Cgg	p.R349R	KCNJ1_ENST00000392666.1_Silent_p.R349R|KCNJ1_ENST00000440599.2_Silent_p.R349R|KCNJ1_ENST00000324036.3_Silent_p.R349R|KCNJ1_ENST00000392664.2_Silent_p.R368R	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	368					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CTCTTCATCCTGGCTCTAACA	0.438000													20	41					0	0	0.007413	0	0
MYCBP2	23077	broad.mit.edu	37	13	77699604	77699604	+	Splice_Site	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:77699604C>A	ENST00000407578.2	-	54	8151		c.e54-1		MYCBP2_ENST00000482517.1_Splice_Site|MYCBP2_ENST00000544440.2_Splice_Site|MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AATTGGTTACCTGGTACATAA	0.418000													11	120					0.000978159	0.00122104	0.000978	1	0
CDH2	1000	broad.mit.edu	37	18	25593792	25593792	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:25593792C>A	ENST00000269141.3	-	3	677	c.254G>T	c.(253-255)gGc>gTc	p.G85V	CDH2_ENST00000399380.3_Missense_Mutation_p.G54V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	85					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATACACCATGCCATCTTCATC	0.423000													31	45					3.99451e-17	6.73067e-17	0.001786	1	0
FGD4	121512	broad.mit.edu	37	12	32764081	32764081	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:32764081A>G	ENST00000427716.2	+	10	1626	c.1202A>G	c.(1201-1203)aAg>aGg	p.K401R	FGD4_ENST00000531134.1_Missense_Mutation_p.K486R|FGD4_ENST00000534526.2_Missense_Mutation_p.K538R|FGD4_ENST00000266482.3_Missense_Mutation_p.K153R|FGD4_ENST00000381025.3_Missense_Mutation_p.K153R|FGD4_ENST00000525053.1_Missense_Mutation_p.K513R|FGD4_ENST00000546442.1_Missense_Mutation_p.K308R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	401					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GAGAACCTAAAGAAACTCTTA	0.328000													3	48					0	0	0.004672	0	0
FOLR4	390243	broad.mit.edu	37	11	94040828	94040828	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:94040828C>T	ENST00000440961.2	+	4	746	c.702C>T	c.(700-702)gtC>gtT	p.V234V		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	241						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CCATCATGGTCTGCTCCCTGT	0.602000													9	274					0	0	0.000978	0	0
LRRC42	115353	broad.mit.edu	37	1	54418024	54418024	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:54418024C>T	ENST00000371370.3	+	3	873	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	LRRC42_ENST00000319223.4_Silent_p.L118L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	118										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGCTGAAAAGCTGTTCTCTGC	0.493000													12	65					0	0	0.000978	0	0
LRRC7	57554	broad.mit.edu	37	1	70505400	70505400	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:70505400A>G	ENST00000310961.5	+	22	4212	c.3794A>G	c.(3793-3795)gAg>gGg	p.E1265G	LRRC7_ENST00000415775.2_Missense_Mutation_p.E544G|LRRC7_ENST00000035383.5_Missense_Mutation_p.E1260G			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1260						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTGAAGGGAGAGGAGAGCTGT	0.438000													10	80					0	0	0.006214	0	0
RRP12	23223	broad.mit.edu	37	10	99133640	99133640	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:99133640C>A	ENST00000370992.4	-	16	1921	c.1810G>T	c.(1810-1812)Gct>Tct	p.A604S	RRP12_ENST00000414986.1_Missense_Mutation_p.A543S|RRP12_ENST00000315563.6_Missense_Mutation_p.A504S|RRP12_ENST00000536831.1_Missense_Mutation_p.A322S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	604						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCTGCCTGAGCCAGGTCCATG	0.577000													7	9					2.0095e-06	2.78844e-06	0.001984	1	0
LRRFIP2	9209	broad.mit.edu	37	3	37095446	37095446	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:37095446T>C	ENST00000421307.1	-	29	2484	c.2062A>G	c.(2062-2064)Aca>Gca	p.T688A	LRRFIP2_ENST00000396428.2_Missense_Mutation_p.T470A|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.T688A|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.T367A|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.T391A|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.T391A|MLH1_ENST00000536378.1_Intron	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	688					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCCAGTGCTGTTCGTAACTGG	0.498000													10	64					0	0	0.008291	0	0
MUC5B	727897	broad.mit.edu	37	11	1271063	1271063	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:1271063C>A	ENST00000447027.1	+	31	13020	c.12962C>A	c.(12961-12963)tCc>tAc	p.S4321Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4318Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4318	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCAAATCCACAGCTACC	0.612000													42	82					9.39024e-22	1.64867e-21	0.002222	1	0
NPHP4	261734	broad.mit.edu	37	1	5947499	5947499	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:5947499C>A	ENST00000378156.4	-	18	2597	c.2332G>T	c.(2332-2334)Gtg>Ttg	p.V778L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	778					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCTGCACAGCCGGCCGG	0.637000													33	30					1.06647e-15	1.78068e-15	0.003755	1	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185358	32185358	+	Missense_Mutation	SNP	C	C	G	rs140820436	by1000genomes	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:32185358C>G	ENST00000329621.4	-	1	212	c.181G>C	c.(181-183)Gct>Cct	p.A61P		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	61						intermediate filament		p.A61S(1)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						CAGTAGAGAGCAAATGGCGAG	0.562000													4	77					0	0	0.001168	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779044	31779044	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:31779044C>T	ENST00000375654.4	-	2	895	c.706G>A	c.(706-708)Gac>Aac	p.D236N	HSPA1L_ENST00000417199.3_Missense_Mutation_p.D236N	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	236					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGCCTGTTGTCAAAGTCCTCC	0.542000													9	81					0	0	0.006214	0	0
PRKCG	5582	broad.mit.edu	37	19	54392896	54392896	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:54392896C>G	ENST00000263431.3	+	4	572	c.290C>G	c.(289-291)cCc>cGc	p.P97R	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.P97R|PRKCG_ENST00000536044.1_Missense_Mutation_p.P97R	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	97					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCCAGGACCCCCGGAACAAA	0.597000													8	14					0	0	0.003080	0	0
BCL9L	283149	broad.mit.edu	37	11	118773263	118773263	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:118773263C>G	ENST00000334801.3	-	6	2153	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	397	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.E397fs*22(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GACAAGCCCTCTGAGCCCACC	0.682000													10	26					0	0	0.000978	0	0
FATE1	89885	broad.mit.edu	37	X	150889935	150889935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:150889935C>A	ENST00000370350.3	+	3	388	c.303C>A	c.(301-303)taC>taA	p.Y101*		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	101						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGAGTACGCTGGCAATT	0.572000													15	18					0.000308642	0.000391656	0.003163	1	0
LRP1	4035	broad.mit.edu	37	12	57560773	57560773	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:57560773G>T	ENST00000243077.3	+	18	3324	c.2858G>T	c.(2857-2859)tGg>tTg	p.W953L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	953	LDL-receptor class A 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCATCTCCTGGACGTGTGAT	0.637000													30	51					6.00712e-18	1.02344e-17	0.002445	1	0
PER1	5187	broad.mit.edu	37	17	8053803	8053803	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:8053803G>A	ENST00000317276.4	-	2	459	c.222C>T	c.(220-222)tcC>tcT	p.S74S	PER1_ENST00000581082.1_Silent_p.S74S|PER1_ENST00000354903.5_Silent_p.S58S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	74	Ser-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTTGCCTGAGGAGGAGCTGT	0.557000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					5	51					0	0	0.000602	0	0
ASUN	55726	broad.mit.edu	37	12	27067511	27067511	+	Splice_Site	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:27067511C>A	ENST00000261191.7	-	12	1785	c.1248_splice	c.e12-1	p.D417_splice	ASUN_ENST00000539625.1_Splice_Site_p.D316_splice	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	417					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TCACCAAAATCCTAATGATAA	0.353000													6	17					5.9392e-07	8.39334e-07	0.001168	1	0
ZER1	10444	broad.mit.edu	37	9	131503873	131503873	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:131503873C>G	ENST00000291900.2	-	11	2084	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	560					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCGCAGTTGTCAGGAGTTTCA	0.572000													9	67					0	0	0.008291	0	0
SEC23IP	11196	broad.mit.edu	37	10	121692629	121692629	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:121692629A>G	ENST00000369075.3	+	17	2943	c.2871A>G	c.(2869-2871)atA>atG	p.I957M	SEC23IP_ENST00000543134.1_Missense_Mutation_p.I746M|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	957	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AAAAACCAATAGAGAGTTTTA	0.388000													16	37					0	0	0.003163	0	0
KCNB1	3745	broad.mit.edu	37	20	47989887	47989887	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:47989887G>T	ENST00000371741.4	-	2	2376	c.2210C>A	c.(2209-2211)tCt>tAt	p.S737Y		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	737					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTCTCAGGAGACCGGGGGGG	0.557000													7	62					2.0095e-06	2.78844e-06	0.001984	1	0
STK31	56164	broad.mit.edu	37	7	23809355	23809355	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:23809355G>C	ENST00000354639.3	+	13	2088	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	STK31_ENST00000428484.1_Missense_Mutation_p.E542Q|STK31_ENST00000433467.2_Missense_Mutation_p.E565Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.E565Q	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	565							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTCTGCAAAGAGCTGGAGAT	0.383000													4	129					0	0	0.000248	0	0
CDH10	1008	broad.mit.edu	37	5	24593394	24593394	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:24593394C>A	ENST00000264463.4	-	2	713	c.206G>T	c.(205-207)gGa>gTa	p.G69V	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	69	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATAATCAGATCCTGTATATTC	0.343000										HNSCC(23;0.051)			26	62					4.59853e-10	7.02765e-10	0.005443	1	0
COL22A1	169044	broad.mit.edu	37	8	139638487	139638487	+	Splice_Site	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:139638487C>T	ENST00000303045.6	-	51	4110		c.e51-1		COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTCTTTCCCCTAAAAGATCC	0.443000										HNSCC(7;0.00092)			13	53					0	0	0.002450	0	0
WDR33	55339	broad.mit.edu	37	2	128467294	128467294	+	Silent	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:128467294T>G	ENST00000322313.4	-	19	3603	c.3445A>C	c.(3445-3447)Aga>Cga	p.R1149R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1149					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCTCGACCTCTGAGATCTCGT	0.542000													18	92					0	0	0.004990	0	0
A2M	2	broad.mit.edu	37	12	9264760	9264760	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:9264760C>A	ENST00000318602.7	-	4	785	c.478G>T	c.(478-480)Gag>Tag	p.E160*		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	160					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTCACCAACTCATTCAGGGGG	0.418000													13	38					7.93312e-07	1.11427e-06	0.002450	1	0
FICD	11153	broad.mit.edu	37	12	108910809	108910809	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:108910809C>A	ENST00000552695.1	+	2	295	c.60C>A	c.(58-60)gtC>gtA	p.V20V	FICD_ENST00000552758.1_Silent_p.V20V|FICD_ENST00000361549.2_Silent_p.V20V	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	20					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						GGGTCTCGGTCTGGAGCCGCT	0.632000													7	48					5.68852e-11	8.93079e-11	0.004482	1	0
GPATCH4	54865	broad.mit.edu	37	1	156568052	156568052	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:156568052C>G	ENST00000368232.4	-	4	345	c.213G>C	c.(211-213)aaG>aaC	p.K71N	GPATCH4_ENST00000334588.7_Missense_Mutation_p.K25N|GPATCH4_ENST00000438976.2_Missense_Mutation_p.K76N|GPATCH4_ENST00000497287.1_5'UTR	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	71						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCCGCAGTCTTGTTGAAGA	0.532000													8	218					0	0	0.004482	0	0
AQP12A	375318	broad.mit.edu	37	2	241631673	241631673	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:241631673G>T	ENST00000429564.1	+	2	405	c.342G>T	c.(340-342)aaG>aaT	p.K114N	AQP12A_ENST00000337801.4_Missense_Mutation_p.K102N			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	102						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CGCTGTTGAAGCTGGCGGCAC	0.682000													14	26					3.45872e-05	4.56531e-05	0.004007	1	0
RPP38	10557	broad.mit.edu	37	10	15145628	15145628	+	Silent	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:15145628G>C	ENST00000378197.4	+	3	829	c.315G>C	c.(313-315)acG>acC	p.T105T	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Silent_p.T105T	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	105					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CAGGGTGGACGCCTGCACACG	0.463000													12	19					0	0	0.001368	0	0
TRIM3	10612	broad.mit.edu	37	11	6478032	6478032	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:6478032C>T	ENST00000525074.1	-	6	1318	c.924G>A	c.(922-924)tcG>tcA	p.S308S	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000359518.3_Silent_p.S308S|TRIM3_ENST00000537602.1_Silent_p.S230S|TRIM3_ENST00000536344.1_Silent_p.S189S|TRIM3_ENST00000345851.3_Silent_p.S308S	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	308					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATTGAGCACCGATCGCCGCA	0.672000													19	50					0	0	0.007413	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232539223	232539223	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:232539223G>A	ENST00000366630.1	-	20	5269	c.4911C>T	c.(4909-4911)ggC>ggT	p.G1637G	SIPA1L2_ENST00000308942.4_Silent_p.G693G|SIPA1L2_ENST00000262861.4_Silent_p.G1637G			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1637					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTTGCCACTGCCTGGATCTA	0.577000													21	38					0	0	0.001523	0	0
HMCN1	83872	broad.mit.edu	37	1	186151329	186151329	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:186151329T>A	ENST00000271588.4	+	105	16553	c.16324T>A	c.(16324-16326)Tgc>Agc	p.C5442S	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5325S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5442	EGF-like 7; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACAGATGCCTGCCAGCATGA	0.428000													6	67					0	0	0.001984	0	0
SMCO1	255798	broad.mit.edu	37	3	196235126	196235126	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:196235126C>G	ENST00000397537.2	-	3	433	c.277G>C	c.(277-279)Gag>Cag	p.E93Q		NM_001077657.1	NP_001071125.1			single-pass membrane protein with coiled-coil domains 1																		GGCAGCTTCTCAAGCACACGA	0.418000													7	106					0	0	0.004482	0	0
RPE65	6121	broad.mit.edu	37	1	68895527	68895527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:68895527C>A	ENST00000262340.5	-	14	1587	c.1534G>T	c.(1534-1536)Gaa>Taa	p.E512*		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	512					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CGGGCAACTTCACTTAAGTCC	0.448000													17	18					1.56452e-12	2.51637e-12	0.007413	1	0
INSL6	11172	broad.mit.edu	37	9	5164203	5164203	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:5164203C>A	ENST00000381641.3	-	2	417	c.352G>T	c.(352-354)Gat>Tat	p.D118Y	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	118						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CCCTTTTTATCCTTATACTCA	0.338000													16	40					3.32936e-07	4.73417e-07	0.006122	1	0
COL6A3	1293	broad.mit.edu	37	2	238243434	238243434	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:238243434G>T	ENST00000295550.4	-	41	9516	c.9064C>A	c.(9064-9066)Ctc>Atc	p.L3022I	COL6A3_ENST00000409809.1_Missense_Mutation_p.L2816I|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2821I|COL6A3_ENST00000472056.1_Missense_Mutation_p.L2415I|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2816I|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2822I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3022	Fibronectin type-III.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTGACGGTGAGGTCATAAAAA	0.557000													20	42					5.26018e-13	8.55011e-13	0.001882	1	0
AP4M1	9179	broad.mit.edu	37	7	99704334	99704334	+	Silent	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:99704334C>G	ENST00000429084.1	+	15	1370	c.1212C>G	c.(1210-1212)gcC>gcG	p.A404A	AP4M1_ENST00000359593.4_Silent_p.A397A|AP4M1_ENST00000422582.1_Silent_p.A269A|AP4M1_ENST00000421755.1_Silent_p.A397A			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	397	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACCTCGGCCTCTCCTCTGG	0.672000													11	34					0	0	0.001855	0	0
KCNK2	3776	broad.mit.edu	37	1	215408281	215408281	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:215408281C>T	ENST00000444842.2	+	7	1224	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	KCNK2_ENST00000391894.2_Silent_p.A343A|KCNK2_ENST00000391895.2_Silent_p.A354A	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	358	Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TCCAGCGGGCCACCTCCATCA	0.557000													15	28					0	0	0.002450	0	0
HTRA2	27429	broad.mit.edu	37	2	74757512	74757512	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:74757512G>T	ENST00000258080.3	+	1	1009	c.379G>T	c.(379-381)Ggt>Tgt	p.G127C	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Missense_Mutation_p.G127C	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	127					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CGGGGGTCGGGGTCCTCCGGC	0.697000													6	4					0.00116845	0.00144875	0.001168	1	0
GPRIN3	285513	broad.mit.edu	37	4	90171017	90171017	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:90171017C>A	ENST00000333209.3	-	2	763	c.245G>T	c.(244-246)gGt>gTt	p.G82V		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	82										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ATTGAACACACCAGGAGAAGA	0.597000													14	119					5.01169e-05	6.56803e-05	0.004990	1	0
KCND2	3751	broad.mit.edu	37	7	119915158	119915158	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:119915158G>T	ENST00000331113.4	+	1	1437	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	158					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CGACACCGCTGGGGAGAGCGC	0.617000													27	30					3.73148e-12	5.97036e-12	0.007291	1	0
CSMD3	114788	broad.mit.edu	37	8	113353834	113353834	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:113353834C>A	ENST00000297405.5	-	42	6768	c.6524G>T	c.(6523-6525)aGt>aTt	p.S2175I	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2105I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2071I|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2135I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2175	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATAACAGTACTAGTTTCTGA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	22					8.12818e-05	0.00010592	0.001984	1	0
TRHDE	29953	broad.mit.edu	37	12	73015531	73015531	+	Splice_Site	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:73015531G>T	ENST00000261180.4	+	15	2636	c.2540_splice	c.e15+1	p.R847_splice		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	847					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AACAGGAACAGGTAAACTGAG	0.393000													9	19					1.12685e-05	1.50903e-05	0.004482	1	0
TEP1	7011	broad.mit.edu	37	14	20841837	20841837	+	Splice_Site	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:20841837C>A	ENST00000262715.5	-	45	6644	c.6604_splice	c.e45+1	p.A2202_splice	TEP1_ENST00000556935.1_Splice_Site_p.A2094_splice|TEP1_ENST00000545983.1_Splice_Site_p.A540_splice	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2202					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTTTTGTTACCTGCACGGGGC	0.567000													5	16					0.00116845	0.00144875	0.001168	1	0
ADAMTS13	11093	broad.mit.edu	37	9	136302875	136302875	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:136302875C>G	ENST00000371929.3	+	13	1886	c.1442C>G	c.(1441-1443)gCt>gGt	p.A481G	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A450G|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A481G|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A153G|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	481					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCAGGGGATGCTCTGTGCAGA	0.617000													17	21					0	0	0.004990	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733416	56733416	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:56733416C>A	ENST00000587340.1	-	7	1714	c.1019G>T	c.(1018-1020)aGc>aTc	p.S340I	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S340I|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S223I|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S194I|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S339I			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	340					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTGACTGGGCTCGCAGGGCC	0.547000													11	45					0.00829132	0.00998431	0.008291	1	0
KIAA1210	57481	broad.mit.edu	37	X	118257545	118257545	+	Splice_Site	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:118257545C>A	ENST00000402510.2	-	3	480	c.481_splice	c.e3+1	p.G161_splice		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	161										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGTTACTTACCCTCATCACCG	0.358000													7	4					3.09899e-07	4.42026e-07	0.004482	1	0
UBE2C	11065	broad.mit.edu	37	20	44444350	44444350	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:44444350G>A	ENST00000405520.1	+	3	1107	c.270G>A	c.(268-270)agG>agA	p.R90R	UBE2C_ENST00000352551.5_Silent_p.R100R|UBE2C_ENST00000356455.4_Silent_p.R129R|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000372568.4_Silent_p.R90R	NM_181802.1	NP_861518.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	129					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	p.R129S(1)		large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				ATGATGTCAGGACCATTCTGC	0.552000													14	31					0	0	0.004007	0	0
CAPSL	133690	broad.mit.edu	37	5	35910048	35910048	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:35910048G>C	ENST00000397367.2	-	4	571	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	CAPSL_ENST00000514524.1_Missense_Mutation_p.Q149E|CAPSL_ENST00000397366.1_Missense_Mutation_p.Q149E	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	149						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCCCCATTCTGGTACTTTGGG	0.373000													12	126					0	0	0.001855	0	0
STK31	56164	broad.mit.edu	37	7	23830442	23830442	+	Splice_Site	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:23830442G>T	ENST00000354639.3	+	22	3032		c.e22-1		STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000433467.2_Splice_Site|STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000355870.3_Splice_Site	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTTTTTGCAGAGTCAGCGAG	0.368000													10	45					0.00621372	0.00749229	0.006214	1	0
ZBED4	9889	broad.mit.edu	37	22	50279734	50279734	+	Silent	SNP	C	C	T	rs150754492	byFrequency	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:50279734C>T	ENST00000216268.4	+	2	2901	c.2424C>T	c.(2422-2424)acC>acT	p.T808T		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	808						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCACCGTCACCGACAACGCCA	0.602000													4	14					0	0	0.000248	0	0
UFL1	23376	broad.mit.edu	37	6	96988410	96988410	+	Splice_Site	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:96988410G>C	ENST00000369278.4	+	11	1224		c.e11-1			NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1						negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										TTTTATTTTAGGAAATGAAAA	0.279000													3	11					0	0	0.004672	0	0
CPXM1	56265	broad.mit.edu	37	20	2777886	2777886	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:2777886C>T	ENST00000380605.2	-	6	848	c.784G>A	c.(784-786)Gga>Aga	p.G262R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	262	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGCGCGCCTCCCTGGAGCCAG	0.652000													5	4					0	0	0.000602	0	0
CLCN6	1185	broad.mit.edu	37	1	11867187	11867187	+	Splice_Site	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:11867187G>C	ENST00000346436.6	+	2	139		c.e2-1		CLCN6_ENST00000312413.6_Splice_Site|CLCN6_ENST00000376487.3_Splice_Site|CLCN6_ENST00000376497.3_Splice_Site|CLCN6_ENST00000376492.3_Splice_Site|CLCN6_ENST00000376496.3_Splice_Site	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6						cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTTTTCTAGACCATCCTTG	0.448000													6	30					0	0	0.001984	0	0
AKT1S1	84335	broad.mit.edu	37	19	50374892	50374892	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:50374892T>C	ENST00000391833.1	-	3	2528	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	AKT1S1_ENST00000344175.5_Missense_Mutation_p.Y180C|AKT1S1_ENST00000391835.1_Missense_Mutation_p.Y200C|AKT1S1_ENST00000391832.3_Missense_Mutation_p.Y180C|AKT1S1_ENST00000391834.2_Missense_Mutation_p.Y180C|AKT1S1_ENST00000391831.1_Missense_Mutation_p.Y180C	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)	180					negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGACTTGGCGTACTGCTGTGT	0.647000													24	57					0	0	0.003330	0	0
HLX	3142	broad.mit.edu	37	1	221054644	221054644	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:221054644C>T	ENST00000366903.6	+	2	2202	c.701C>T	c.(700-702)tCt>tTt	p.S234F	HLX_ENST00000549319.1_5'UTR	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	234					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AACGAGGCTTCTGCAATCCTG	0.557000													27	43					0	0	0.005443	0	0
BRCA2	675	broad.mit.edu	37	13	32930636	32930636	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:32930636G>T	ENST00000544455.1	+	15	7734	c.7507G>T	c.(7507-7509)Gtc>Ttc	p.V2503F	BRCA2_ENST00000380152.3_Missense_Mutation_p.V2503F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2503	Interaction with FANCD2.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGGCAACGCGTCTTTCCACA	0.413000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			9	85					4.68919e-08	6.83685e-08	0.008291	1	0
OBSCN	84033	broad.mit.edu	37	1	228492894	228492894	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:228492894G>A	ENST00000570156.2	+	54	14411	c.14337G>A	c.(14335-14337)caG>caA	p.Q4779Q	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Silent_p.Q1456Q|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3822					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTATGTTGCAGTGTGAGCTGA	0.567000													10	58					0	0	0.006214	0	0
C2CD5	9847	broad.mit.edu	37	12	22610049	22610049	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:22610049C>A	ENST00000333957.4	-	23	2835	c.2580G>T	c.(2578-2580)cgG>cgT	p.R860R	C2CD5_ENST00000542676.1_Silent_p.R911R|C2CD5_ENST00000446597.1_Silent_p.R911R|C2CD5_ENST00000536386.1_Silent_p.R913R|C2CD5_ENST00000544930.1_Silent_p.R716R|C2CD5_ENST00000396028.2_Silent_p.R902R|C2CD5_ENST00000545552.1_Silent_p.R914R	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		CAGAACGATTCCGGAAATTTC	0.398000													16	31					2.54575e-18	4.36143e-18	0.001523	1	0
ZNF518B	85460	broad.mit.edu	37	4	10447119	10447119	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:10447119T>C	ENST00000326756.3	-	3	1272	c.834A>G	c.(832-834)ttA>ttG	p.L278L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTGGTTCAGGTAACAACATGA	0.363000													13	110					0	0	0.001368	0	0
NUP214	8021	broad.mit.edu	37	9	134090701	134090701	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:134090701A>T	ENST00000359428.5	+	31	5839	c.5695A>T	c.(5695-5697)Aac>Tac	p.N1899Y	NUP214_ENST00000411637.2_Missense_Mutation_p.N1889Y|NUP214_ENST00000483497.2_Missense_Mutation_p.N725Y|NUP214_ENST00000451030.1_Missense_Mutation_p.N1900Y			P35658	NU214_HUMAN	nucleoporin 214kDa	1899	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGATGCAGCCAACAAAAACCC	0.522000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								30	58					0	0	0.007291	0	0
FZD5	7855	broad.mit.edu	37	2	208633089	208633089	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:208633089G>A	ENST00000295417.3	-	2	928	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	125	FZ.				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CGGGCCAGGCGAAGCCGTACT	0.721000													5	10					0	0	0.000602	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063837	48063837	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:48063837C>A	ENST00000316364.5	+	19	3516	c.3077C>A	c.(3076-3078)tCc>tAc	p.S1026Y	SEMA6D_ENST00000358066.4_Missense_Mutation_p.S964Y|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.S983Y|SEMA6D_ENST00000558014.1_Missense_Mutation_p.S964Y|SEMA6D_ENST00000537942.1_Missense_Mutation_p.S964Y|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S1026Y|SEMA6D_ENST00000354744.4_Missense_Mutation_p.S970Y|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S1007Y|SEMA6D_ENST00000389428.3_Missense_Mutation_p.S951Y	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	1026					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCTTCCCTCTCCAGACAGAGC	0.532000													17	119					1.02788e-11	1.63044e-11	0.004990	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576618	158576618	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:158576618C>T	ENST00000361284.1	+	1	390	c.390C>T	c.(388-390)ctC>ctT	p.L130L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGCTCCACTCCACTATGCCA	0.507000													24	46					0	0	0.002780	0	0
ITM2C	81618	broad.mit.edu	37	2	231742238	231742238	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:231742238C>T	ENST00000326427.6	+	5	811	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	ITM2C_ENST00000409704.2_Missense_Mutation_p.R167W|ITM2C_ENST00000326407.6_Missense_Mutation_p.R192W|ITM2C_ENST00000335005.6_Missense_Mutation_p.R182W	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	229	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGACACCTACCGGCTCCGGCG	0.622000													7	63					0	0	0.003080	0	0
INTS1	26173	broad.mit.edu	37	7	1517509	1517509	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:1517509G>C	ENST00000389470.4	-	35	5290	c.5291C>G	c.(5290-5292)tCt>tGt	p.S1764C	INTS1_ENST00000404767.3_Missense_Mutation_p.S1565C			Q8N201	INT1_HUMAN	integrator complex subunit 1	1565					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCAGTGGCAGAGAAGAATGC	0.637000													24	35					0	0	0.002780	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199039	107199039	+	RNA	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:107199039A>T	ENST00000433072.2	-	0	329																											CCTTTCACAGACGCGGCGTAT	0.512000													11	70					0	0	0.008291	0	0
GOLGB1	2804	broad.mit.edu	37	3	121435663	121435663	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:121435663T>C	ENST00000393667.3	-	9	1319	c.1209A>G	c.(1207-1209)ctA>ctG	p.L403L	GOLGB1_ENST00000340645.5_Silent_p.L398L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	398					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTGATCCTTTAGAGCATCAC	0.438000													5	59					0	0	0.008291	0	0
CDH6	1004	broad.mit.edu	37	5	31302334	31302334	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:31302334G>T	ENST00000265071.2	+	6	1193	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C	CDH6_ENST00000514738.1_Missense_Mutation_p.G255C	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	310	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.G310S(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CATCACAGACGGTGAGGGGCT	0.473000													8	52					5.18039e-06	7.03982e-06	0.003080	1	0
DUSP12	11266	broad.mit.edu	37	1	161719819	161719819	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:161719819G>A	ENST00000367943.4	+	1	260	c.228G>A	c.(226-228)tgG>tgA	p.W76*	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	76					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			AGGATCTATGGCGCCTCTTCG	0.667000													8	68					0	0	0.004482	0	0
COLEC12	81035	broad.mit.edu	37	18	347058	347058	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:347058G>T	ENST00000400256.3	-	5	771	c.564C>A	c.(562-564)ctC>ctA	p.L188L		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	188					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GATTGCCCTGGAGCACGCTGG	0.463000													59	82					1.92745e-42	3.47016e-42	0.003610	1	0
POTEG	404785	broad.mit.edu	37	14	19566021	19566021	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:19566021G>C	ENST00000409832.3	+	6	1117	c.1065G>C	c.(1063-1065)caG>caC	p.Q355H	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	355										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAATTTGCCAGTTACTTTCTG	0.264000													4	67					0	0	0.000248	0	0
KMT2A	4297	broad.mit.edu	37	11	118374110	118374110	+	Silent	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:118374110C>G	ENST00000534358.1	+	27	7526	c.7503C>G	c.(7501-7503)ccC>ccG	p.P2501P	KMT2A_ENST00000389506.5_Silent_p.P2498P|KMT2A_ENST00000354520.4_Silent_p.P2460P	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAGGAGTCCCCAAAGCTCCAC	0.453000													6	44					0	0	0.001984	0	0
TMCO3	55002	broad.mit.edu	37	13	114164584	114164584	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:114164584A>G	ENST00000434316.2	+	7	1429	c.1070A>G	c.(1069-1071)tAc>tGc	p.Y357C	TMCO3_ENST00000375391.1_Missense_Mutation_p.Y357C|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	357						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGGCCGTGTTACATGACACTG	0.473000													8	99					0	0	0.006214	0	0
OR2T12	127064	broad.mit.edu	37	1	248458447	248458447	+	Missense_Mutation	SNP	G	G	A	rs146364564		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:248458447G>A	ENST00000317996.1	-	1	433	c.434C>T	c.(433-435)tCg>tTg	p.S145L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GAGCCAGGACGACATGGTCAT	0.592000													20	43					0	0	0.002299	0	0
MUC5B	727897	broad.mit.edu	37	11	1263179	1263179	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:1263179C>T	ENST00000447027.1	+	31	5136	c.5078C>T	c.(5077-5079)aCa>aTa	p.T1693I	MUC5B_ENST00000529681.1_Missense_Mutation_p.T1690I			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1690	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGGTGGCCACATCCACCCTT	0.652000													5	7					0	0	0.000602	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544348	154544348	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:154544348A>T	ENST00000368476.3	+	5	1313	c.1049A>T	c.(1048-1050)cAg>cTg	p.Q350L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	350					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CTCTTCATGCAGCAGCCACGC	0.697000													4	7					0	0	0.000248	0	0
XK	7504	broad.mit.edu	37	X	37587351	37587351	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:37587351G>C	ENST00000378616.3	+	3	1174	c.971G>C	c.(970-972)aGa>aCa	p.R324T	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	324					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TACATGATAAGATTCATCGAG	0.458000													22	21					0	0	0.002780	0	0
FAM208B	54906	broad.mit.edu	37	10	5782339	5782339	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:5782339G>C	ENST00000328090.5	+	13	2831	c.2206G>C	c.(2206-2208)Gtg>Ctg	p.V736L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	736																	CTCTCGTATAGTGCTTAGCTG	0.463000													8	72					0	0	0.003080	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010797	173010797	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:173010797C>A	ENST00000404377.3	-	3	310	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.V82L	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	104					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						CAGTCAGACACCTTATTCACG	0.383000													43	83					6.34439e-16	1.06124e-15	0.003610	1	0
MUC16	94025	broad.mit.edu	37	19	9089319	9089319	+	Silent	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:9089319T>A	ENST00000397910.4	-	1	2699	c.2496A>T	c.(2494-2496)tcA>tcT	p.S832S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	832	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						TAGGACTCTCTGACGATTCTG	0.488000													73	72					0	0	0.003610	0	0
TMEM67	91147	broad.mit.edu	37	8	94792843	94792843	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:94792843G>T	ENST00000453321.3	+	8	795	c.737G>T	c.(736-738)tGt>tTt	p.C246F	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.C165F	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	246					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CTAACATCTTGTCAAGCTCTT	0.328000													30	90					1.36615e-20	2.37591e-20	0.002836	1	0
DCHS1	8642	broad.mit.edu	37	11	6662532	6662532	+	Missense_Mutation	SNP	G	G	T	rs143832439		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:6662532G>T	ENST00000299441.3	-	2	724	c.313C>A	c.(313-315)Cgt>Agt	p.R105S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	105	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCAAGACACGGGCTGTACGG	0.602000													10	34					2.80697e-09	4.21963e-09	0.000978	1	0
SETD2	29072	broad.mit.edu	37	3	47161790	47161790	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:47161790C>A	ENST00000409792.3	-	3	4378	c.4336G>T	c.(4336-4338)Ggg>Tgg	p.G1446W		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CAGGAGGGCCCAACCAGTGCT	0.488000			"""N, F, S, Mis"""		clear cell renal carcinoma								25	30					4.22769e-11	6.66007e-11	0.006320	1	0
PDS5A	23244	broad.mit.edu	37	4	39846292	39846292	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:39846292T>C	ENST00000303538.8	-	30	4071	c.3532A>G	c.(3532-3534)Acc>Gcc	p.T1178A		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1178					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CGATTTCCGGTTGAAGGGTTC	0.383000													7	65					0	0	0.003080	0	0
MYBPC2	4606	broad.mit.edu	37	19	50940738	50940738	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:50940738C>T	ENST00000357701.5	+	6	523	c.472C>T	c.(472-474)Cag>Tag	p.Q158*		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	158					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGCACCCCGTCAGGATGCCTC	0.587000													4	7					0	0	0.000602	0	0
ZPBP	11055	broad.mit.edu	37	7	50070862	50070862	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:50070862G>T	ENST00000046087.2	-	5	601	c.532C>A	c.(532-534)Cat>Aat	p.H178N	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.H177N	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	178					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGAGCTGCATGATATCGAGCT	0.308000													14	34					3.27435e-08	4.78159e-08	0.002450	1	0
TAF5L	27097	broad.mit.edu	37	1	229750098	229750098	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:229750098G>A	ENST00000366675.3	-	2	220	c.132C>T	c.(130-132)gcC>gcT	p.A44A	TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366674.1_Silent_p.A44A|TAF5L_ENST00000258281.2_Silent_p.A44A|TAF5L_ENST00000366676.1_Silent_p.A44A	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	44					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGTTAGATTGGCCGCCATCT	0.552000													5	49					0	0	0.001168	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													3	56					0	0	0.004672	0	0
KIAA0196	9897	broad.mit.edu	37	8	126093909	126093909	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:126093909C>G	ENST00000318410.7	-	5	861	c.512G>C	c.(511-513)cGa>cCa	p.R171P	KIAA0196_ENST00000517845.1_Missense_Mutation_p.R23P	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	171					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATACCTGTATCGGTAGTAAGA	0.433000													17	44					0	0	0.006122	0	0
FBXO18	84893	broad.mit.edu	37	10	5960326	5960326	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:5960326C>G	ENST00000379999.5	+	14	2242	c.2138C>G	c.(2137-2139)tCt>tGt	p.S713C	FBXO18_ENST00000362091.4_Missense_Mutation_p.S662C|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Missense_Mutation_p.S149C	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	662					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ATAGTTCTGTCTCAGCCATGT	0.517000													7	158					0	0	0.001984	0	0
OR6N1	128372	broad.mit.edu	37	1	158736335	158736335	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:158736335G>T	ENST00000335094.2	-	1	157	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGACCACCAGGAATATCAGCA	0.507000													7	61					5.18039e-06	7.03982e-06	0.003080	1	0
DSCAM	1826	broad.mit.edu	37	21	41457578	41457578	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:41457578G>T	ENST00000400454.1	-	23	4560	c.4083C>A	c.(4081-4083)gcC>gcA	p.A1361A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1361	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTTGTTATTGGCAATGCAGC	0.393000													9	57					2.17888e-05	2.88843e-05	0.006214	1	0
FBN2	2201	broad.mit.edu	37	5	127673778	127673778	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:127673778C>A	ENST00000508053.1	-	33	4483	c.3509G>T	c.(3508-3510)aGg>aTg	p.R1170M	FBN2_ENST00000262464.4_Missense_Mutation_p.R1170M|FBN2_ENST00000507835.1_Missense_Mutation_p.R20M|FBN2_ENST00000508989.1_Missense_Mutation_p.R1137M			P35556	FBN2_HUMAN	fibrillin 2	1170	EGF-like 17; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTGCCACCCCTACAAAGGAG	0.488000													14	15					6.31663e-08	9.15165e-08	0.003163	1	0
ACTA1	58	broad.mit.edu	37	1	229568613	229568613	+	Silent	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:229568613A>G	ENST00000366684.3	-	3	246	c.144T>C	c.(142-144)ggT>ggC	p.G48G	ACTA1_ENST00000366683.2_Silent_p.G48G	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	48					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TCTGACCCATACCGACCATGA	0.632000													21	38					0	0	0.008871	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572123	76572123	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:76572123A>G	ENST00000307431.8	+	20	3488	c.3103A>G	c.(3103-3105)Aag>Gag	p.K1035E	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.K1039E|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.K987E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.K963E|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1036					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGTGATATGAAGCTGAGCAG	0.368000													3	87					0	0	0.004672	0	0
ANXA10	11199	broad.mit.edu	37	4	169102871	169102871	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:169102871T>C	ENST00000359299.3	+	10	948	c.762T>C	c.(760-762)taT>taC	p.Y254Y		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	254							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		ATTTTGCTTATAGATTATATA	0.303000													21	100					0	0	0.002780	0	0
ACOT9	23597	broad.mit.edu	37	X	23749030	23749030	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:23749030G>C	ENST00000379303.5	-	5	393	c.265C>G	c.(265-267)Cct>Gct	p.P89A	ACOT9_ENST00000336430.7_Missense_Mutation_p.P80A|ACOT9_ENST00000379295.1_Missense_Mutation_p.P20A|ACOT9_ENST00000492081.1_Missense_Mutation_p.P20A	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	80					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ATTCTCCTAGGAGGCAGTCCA	0.408000													8	26					0	0	0.003080	0	0
WDFY3	23001	broad.mit.edu	37	4	85642574	85642574	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:85642574C>A	ENST00000322366.6	-	46	7949	c.7542G>T	c.(7540-7542)gaG>gaT	p.E2514D	WDFY3_ENST00000295888.4_Missense_Mutation_p.E2531D			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2531						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTCTCCTTCCTCTAACAGGC	0.418000													18	109					3.62473e-10	5.58585e-10	0.001882	1	0
ATP1A1	476	broad.mit.edu	37	1	116940558	116940558	+	Silent	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:116940558C>G	ENST00000537345.1	+	15	2385	c.2022C>G	c.(2020-2022)acC>acG	p.T674T	ATP1A1_ENST00000295598.5_Silent_p.T674T|ATP1A1_ENST00000369496.4_Silent_p.T643T	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	674					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGGACATGACCTCCGAGCAGC	0.478000													19	64					0	0	0.006122	0	0
AR	367	broad.mit.edu	37	X	66765064	66765064	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:66765064C>A	ENST00000374690.3	+	1	600	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	AR_ENST00000504326.1_Missense_Mutation_p.L26M|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.L26M	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	26	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TTTCCAGAATCTGTTCCAGAG	0.632000									Androgen Insensitivity Syndrome				12	20					5.50884e-06	7.45313e-06	0.001368	1	0
NSD1	64324	broad.mit.edu	37	5	176707799	176707799	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:176707799G>T	ENST00000439151.2	+	18	5901	c.5856G>T	c.(5854-5856)cgG>cgT	p.R1952R	NSD1_ENST00000347982.4_Silent_p.R1683R|NSD1_ENST00000354179.4_Silent_p.R1683R|NSD1_ENST00000361032.4_Silent_p.R1849R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1952	S-adenosyl-L-methionine binding.|SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CATTACAGCGGGGTTGGGGTC	0.448000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	28					0.00185496	0.00229685	0.001855	1	0
ACACB	32	broad.mit.edu	37	12	109678897	109678897	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:109678897G>A	ENST00000338432.7	+	36	4952	c.4833G>A	c.(4831-4833)gtG>gtA	p.V1611V	ACACB_ENST00000543201.1_Silent_p.V277V|ACACB_ENST00000377848.3_Silent_p.V1611V|ACACB_ENST00000377854.5_Silent_p.V1541V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1611					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)	AGGAGTCCGTGCGCTACATGG	0.542000													6	46					0	0	0.001984	0	0
GHR	2690	broad.mit.edu	37	5	42718700	42718700	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:42718700G>T	ENST00000230882.4	+	10	1281	c.1091G>T	c.(1090-1092)aGa>aTa	p.R364I	GHR_ENST00000537449.1_Missense_Mutation_p.R177I|GHR_ENST00000357703.3_Missense_Mutation_p.R342I|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	364					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GACACAGACAGACTTCTAAGC	0.443000													23	89					2.89027e-11	4.56881e-11	0.002299	1	0
C18orf54	162681	broad.mit.edu	37	18	51887022	51887022	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:51887022G>T	ENST00000300091.5	+	2	412	c.80G>T	c.(79-81)aGt>aTt	p.S27I	C18orf54_ENST00000578138.1_Intron|C18orf54_ENST00000382911.4_Missense_Mutation_p.S27I	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	27						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TGCACCCTGAGTGGTAGTAAT	0.408000													17	38					1.99824e-07	2.86352e-07	0.004990	1	0
TSIX	9383	broad.mit.edu	37	X	73044698	73044698	+	RNA	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:73044698C>A	ENST00000604411.1	+	0	32659				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATATATCATTCCTTACATCTG	0.308000													14	20					2.23348e-06	3.07606e-06	0.004007	1	0
ARFGAP3	26286	broad.mit.edu	37	22	43203106	43203106	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:43203106A>G	ENST00000263245.5	-	14	1603	c.1384T>C	c.(1384-1386)Ttc>Ctc	p.F462L	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.F418L|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.F390L	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	462					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GGCTCCTCGAACAGATCAGCC	0.522000													4	14					0	0	0.000248	0	0
KLHL24	54800	broad.mit.edu	37	3	183390119	183390119	+	Silent	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:183390119A>T	ENST00000454652.1	+	8	1835	c.1449A>T	c.(1447-1449)ctA>ctT	p.L483L	KLHL24_ENST00000242810.6_Silent_p.L483L|KLHL24_ENST00000476808.1_Silent_p.L483L			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	483						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ATTCTTGGCTACTTCGTGCAG	0.333000													9	40					0	0	0.006214	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044210	90044210	+	RNA	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:90044210G>T	ENST00000462693.1	+	0	161																											ATCTCCTTCAGGTCTAGTCAA	0.507000													22	130					1.50039e-11	2.37583e-11	0.001882	1	0
RYR3	6263	broad.mit.edu	37	15	34072441	34072441	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:34072441C>A	ENST00000389232.4	+	65	9237	c.9167C>A	c.(9166-9168)gCc>gAc	p.A3056D	RYR3_ENST00000415757.3_Missense_Mutation_p.A3056D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3056					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAATGTCTGGCCTCGCTGGCA	0.577000													13	36					0.000151284	0.000196031	0.001855	1	0
MAN2A1	4124	broad.mit.edu	37	5	109091072	109091072	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:109091072G>T	ENST00000261483.4	+	5	1802	c.750G>T	c.(748-750)tgG>tgT	p.W250C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	250					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CAGGTGGCTGGGTTATGCCTG	0.323000													19	30					3.99206e-14	6.53504e-14	0.007413	1	0
COX6B1	1340	broad.mit.edu	37	19	36142133	36142133	+	Splice_Site	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:36142133A>T	ENST00000246554.3	+	2	181		c.e2-1		COX6B1_ENST00000592141.1_Splice_Site|COX6B1_ENST00000392201.1_Splice_Site	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)						respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTTCGCCTCCAGGATTCAGCA	0.572000													14	30					0	0	0.002450	0	0
UVSSA	57654	broad.mit.edu	37	4	1369241	1369241	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:1369241G>C	ENST00000389851.4	+	9	1825	c.1378G>C	c.(1378-1380)Gcg>Ccg	p.A460P	UVSSA_ENST00000512728.1_Missense_Mutation_p.A11P|UVSSA_ENST00000511563.1_Missense_Mutation_p.A11P|UVSSA_ENST00000511216.1_Missense_Mutation_p.A460P|UVSSA_ENST00000507531.1_Missense_Mutation_p.A460P	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	460																	CCCCACCTCTGCGGCTGCTCA	0.657000													6	51					0	0	0.001168	0	0
ZNF680	340252	broad.mit.edu	37	7	63981860	63981860	+	Silent	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:63981860A>G	ENST00000309683.6	-	4	1423	c.1272T>C	c.(1270-1272)caT>caC	p.H424H		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	424					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)				GAATTCTCTTATGTCGAGTAA	0.368000													14	32					0	0	0.002450	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151358234	151358234	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:151358234T>C	ENST00000367321.3	+	26	3102	c.2828T>C	c.(2827-2829)aTt>aCt	p.I943T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	943	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GCTGGGTTCATTTACCCTTTG	0.512000													10	62					0	0	0.001855	0	0
TRHDE	29953	broad.mit.edu	37	12	73015532	73015532	+	Splice_Site	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:73015532G>T	ENST00000261180.4	+	15	2636		c.e15+1			NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme						cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACAGGAACAGGTAAACTGAGC	0.393000													9	18					1.12685e-05	1.50903e-05	0.004482	1	0
RABGAP1L	9910	broad.mit.edu	37	1	174274246	174274246	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:174274246G>T	ENST00000251507.4	+	11	1620	c.1446G>T	c.(1444-1446)caG>caT	p.Q482H	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.Q445H|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.Q129H	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	482					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TGTCACCCCAGGATGATGAAG	0.468000													13	22					9.31168e-06	1.25428e-05	0.001855	1	0
ZFAT	57623	broad.mit.edu	37	8	135614893	135614893	+	Missense_Mutation	SNP	G	G	C	rs143158019	by1000genomes	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:135614893G>C	ENST00000520727.1	-	7	1332	c.1033C>G	c.(1033-1035)Cgc>Ggc	p.R345G	ZFAT_ENST00000429442.2_Missense_Mutation_p.R345G|ZFAT_ENST00000520214.1_Missense_Mutation_p.R345G|ZFAT_ENST00000523399.1_Missense_Mutation_p.R295G|ZFAT_ENST00000377838.3_Missense_Mutation_p.R357G|ZFAT_ENST00000520356.1_Missense_Mutation_p.R345G	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTGCAGAAGCGGCAGTGCTGC	0.542000													14	37					0	0	0.001855	0	0
OR13G1	441933	broad.mit.edu	37	1	247835568	247835568	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:247835568G>T	ENST00000359688.2	-	1	797	c.776C>A	c.(775-777)cCt>cAt	p.P259H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCTGGAAGCAGGGCGGATATA	0.468000													16	36					6.72482e-11	1.04862e-10	0.003163	1	0
EYS	346007	broad.mit.edu	37	6	66204904	66204904	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:66204904G>T	ENST00000503581.1	-	4	937	c.400C>A	c.(400-402)Cac>Aac	p.H134N	EYS_ENST00000370616.2_Missense_Mutation_p.H134N|EYS_ENST00000370618.3_Missense_Mutation_p.H134N|EYS_ENST00000370621.3_Missense_Mutation_p.H134N|EYS_ENST00000342421.5_Missense_Mutation_p.H134N|EYS_ENST00000393380.2_Missense_Mutation_p.H134N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	134					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTAACAGTGTGCATTCCTTTT	0.393000													13	17					1.05317e-09	1.59887e-09	0.002450	1	0
PEAR1	375033	broad.mit.edu	37	1	156883775	156883775	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:156883775C>A	ENST00000338302.3	+	23	3070	c.2845C>A	c.(2845-2847)Cct>Act	p.P949T	PEAR1_ENST00000292357.7_Missense_Mutation_p.P949T			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	949	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GATGAAAGGCCCTCCCTCAGG	0.652000													9	5					0.00621372	0.00749229	0.006214	1	0
GOLGA4	2803	broad.mit.edu	37	3	37369958	37369958	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:37369958G>A	ENST00000361924.2	+	15	6365	c.5991G>A	c.(5989-5991)ctG>ctA	p.L1997L	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.L2019L	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1997	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TAAAACAGCTGATGAGGGAGT	0.378000													15	76					0	0	0.003163	0	0
SCEL	8796	broad.mit.edu	37	13	78188089	78188089	+	Splice_Site	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:78188089G>T	ENST00000535157.1	+	22	1494	c.1325_splice	c.e22+1	p.G442_splice	SCEL_ENST00000349847.3_Splice_Site_p.G484_splice|SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000377246.3_Splice_Site_p.G464_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	484	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAACACTGATGGGTAAGAGAT	0.318000													18	40					1.15919e-05	1.55007e-05	0.008871	1	0
CRTC2	200186	broad.mit.edu	37	1	153925803	153925803	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:153925803G>A	ENST00000368633.1	-	6	673	c.546C>T	c.(544-546)ccC>ccT	p.P182P	CRTC2_ENST00000476883.1_5'UTR|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	182					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGGGGACTGGGGTTCATCA	0.602000													7	74					0	0	0.003080	0	0
C10orf137	26098	broad.mit.edu	37	10	127429682	127429682	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:127429682T>C	ENST00000337623.3	+	16	2286	c.2181T>C	c.(2179-2181)aaT>aaC	p.N727N	C10orf137_ENST00000356792.4_Silent_p.N761N	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	761					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)				ATGCAAATAATAGAGCAGCAC	0.453000													35	47					0	0	0.002836	0	0
GPR158	57512	broad.mit.edu	37	10	25861770	25861770	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:25861770C>T	ENST00000376351.3	+	7	2066	c.1707C>T	c.(1705-1707)atC>atT	p.I569I		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	569						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATCACCTCATCTTCAATATGT	0.428000													20	32					0	0	0.008871	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28121309	28121309	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:28121309G>T	ENST00000330236.6	+	6	1435	c.1251G>T	c.(1249-1251)caG>caT	p.Q417H	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.Q417H	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		CTTTCAGTCAGAGTGCGGGCC	0.498000													9	72					0.000442599	0.000559329	0.006214	1	0
PEG3	5178	broad.mit.edu	37	19	57327425	57327425	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:57327425C>A	ENST00000326441.9	-	10	2748	c.2385G>T	c.(2383-2385)ggG>ggT	p.G795G	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.G671G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.G795G|PEG3_ENST00000593695.1_Silent_p.G669G|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	795					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTTACTGGGCCCTGCTACAC	0.458000													37	83					1.42033e-22	2.5129e-22	0.004289	1	0
KLHDC3	116138	broad.mit.edu	37	6	42986681	42986681	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:42986681G>A	ENST00000326974.4	+	8	1096	c.901G>A	c.(901-903)Gac>Aac	p.D301N	KLHDC3_ENST00000332245.8_Missense_Mutation_p.D242N|KLHDC3_ENST00000244670.8_Missense_Mutation_p.D167N	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	301					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TATTGTTGGTGACAAGATTGT	0.512000													12	66					0	0	0.000978	0	0
DNAH1	25981	broad.mit.edu	37	3	52426902	52426902	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:52426902G>C	ENST00000420323.2	+	65	10596	c.10335G>C	c.(10333-10335)gaG>gaC	p.E3445D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3510	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCGCATGGAGTACATACCCG	0.577000													9	126					0	0	0.000978	0	0
TREML3P	340206	broad.mit.edu	37	6	41185581	41185581	+	RNA	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:41185581G>T	ENST00000564680.1	-	0	104																											TGGAGCTGGTGACAAGTAAGG	0.502000													15	36					9.16793e-09	1.3604e-08	0.004990	1	0
DGUOK	1716	broad.mit.edu	37	2	74173969	74173969	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:74173969C>T	ENST00000264093.4	+	3	464	c.379C>T	c.(379-381)Cct>Tct	p.P127S	DGUOK_ENST00000356837.6_Missense_Mutation_p.P105S|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Missense_Mutation_p.P127S	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	127					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						GGAGCCCTTCCCTGAGAAACT	0.507000													13	17					0	0	0.002450	0	0
SEZ6	124925	broad.mit.edu	37	17	27308526	27308526	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:27308526A>G	ENST00000317338.12	-	2	1015	c.587T>C	c.(586-588)gTt>gCt	p.V196A	SEZ6_ENST00000335960.6_Missense_Mutation_p.V196A|SEZ6_ENST00000442608.3_Missense_Mutation_p.V196A|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.V196A			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	196						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AACCTCTGCAACCCACGGCCT	0.632000													5	5					0	0	0.000602	0	0
COL19A1	1310	broad.mit.edu	37	6	70639421	70639421	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:70639421T>C	ENST00000322773.4	+	6	597	c.495T>C	c.(493-495)ccT>ccC	p.P165P		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	165	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AACTCCGTCCTTTGTTTGATC	0.398000													6	47					0	0	0.001984	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839778	27839778	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:27839778C>G	ENST00000328488.2	-	1	321	c.316G>C	c.(316-318)Gag>Cag	p.E106Q		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGGTATCCTCAAATAGCCCC	0.572000													27	99					0	0	0.005443	0	0
SLC9C2	284525	broad.mit.edu	37	1	173542361	173542361	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:173542361G>T	ENST00000367714.3	-	9	1428	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	SLC9C2_ENST00000536496.1_Missense_Mutation_p.P234T|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	336					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AATATGAAAGGTATAGTGTGA	0.289000													5	24					1.23904e-05	1.64966e-05	0.000602	1	0
PKD1	5310	broad.mit.edu	37	16	2164199	2164199	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:2164199T>A	ENST00000262304.4	-	11	3033	c.2825A>T	c.(2824-2826)gAg>gTg	p.E942V	PKD1_ENST00000423118.1_Missense_Mutation_p.E942V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	942	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TACACGGGCCTCGGGGCTGGG	0.697000													17	18					0	0	0.001523	0	0
ROR1	4919	broad.mit.edu	37	1	64603134	64603134	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:64603134A>G	ENST00000371079.1	+	5	940	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Missense_Mutation_p.M189V|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	189	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CACCGTCTATATGGAGTCTTT	0.403000													29	33					0	0	0.006320	0	0
SERPING1	710	broad.mit.edu	37	11	57381909	57381909	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:57381909G>T	ENST00000403558.1	+	7	1853	c.1487G>T	c.(1486-1488)gGg>gTg	p.G496V	SERPING1_ENST00000278407.4_Missense_Mutation_p.G453V|SERPING1_ENST00000378324.2_Missense_Mutation_p.G401V|SERPING1_ENST00000378323.4_Missense_Mutation_p.G458V|SERPING1_ENST00000340687.6_Missense_Mutation_p.G416V	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	453					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ACAGAGACTGGGGTGGAGGCG	0.582000													11	37					2.80697e-09	4.21963e-09	0.000978	1	0
WDR90	197335	broad.mit.edu	37	16	705355	705355	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:705355C>T	ENST00000549091.1	+	15	1697	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	WDR90_ENST00000293879.4_Silent_p.G535G|LA16c-349E10.1_ENST00000573609.1_RNA	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	535										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCTGCGTGGCGGGGTGCTGC	0.706000													4	15					0	0	0.000602	0	0
OR2J3	442186	broad.mit.edu	37	6	29080100	29080100	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:29080100C>T	ENST00000377169.1	+	1	433	c.433C>T	c.(433-435)Cac>Tac	p.H145Y		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCGTTTCTGCCACCTGCTGGC	0.512000													42	282					0	0	0.008740	0	0
C10orf53	282966	broad.mit.edu	37	10	50902620	50902620	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:50902620C>A	ENST00000374111.3	+	3	266	c.254C>A	c.(253-255)gCc>gAc	p.A85D	C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000535836.1_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	85										endometrium(1)|lung(6)	7		all_neural(218;0.107)				TGTGAAAAGGCCAGGATAGCC	0.453000													22	31					1.37878e-21	2.41615e-21	0.003330	1	0
LRRC7	57554	broad.mit.edu	37	1	70397219	70397219	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:70397219G>T	ENST00000310961.5	+	9	996	c.578G>T	c.(577-579)aGa>aTa	p.R193I	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.R188I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	188						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGTTGGAAAGACTTGACCTA	0.393000													8	17					5.4927e-09	8.23011e-09	0.004482	1	0
TMED1	11018	broad.mit.edu	37	19	10946726	10946726	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:10946726G>T	ENST00000214869.2	-	1	240	c.142C>A	c.(142-144)Cag>Aag	p.Q48K	TMED1_ENST00000591695.1_Missense_Mutation_p.Q48K	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	48	GOLD.				cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GGCGCGGACTGGTAGAAACAC	0.677000													4	4					3.59834e-05	4.73601e-05	0.001168	1	0
DKKL1	27120	broad.mit.edu	37	19	49878264	49878264	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:49878264C>T	ENST00000221498.2	+	5	1113	c.708C>T	c.(706-708)ctC>ctT	p.L236L	DKKL1_ENST00000594268.1_Silent_p.L94L|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	236					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		TGTACATCCTCAGGCCCTCTC	0.607000													13	31					0	0	0.003163	0	0
SYNRG	11276	broad.mit.edu	37	17	35944813	35944813	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:35944813C>A	ENST00000339208.6	-	6	672	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	SYNRG_ENST00000591288.1_Missense_Mutation_p.G178W|SYNRG_ENST00000585472.1_Missense_Mutation_p.G177W|SYNRG_ENST00000502449.2_Missense_Mutation_p.G178W|SYNRG_ENST00000394378.2_Missense_Mutation_p.G178W|SYNRG_ENST00000346661.4_Missense_Mutation_p.G178W|SYNRG_ENST00000345615.4_Missense_Mutation_p.G178W	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	178					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGGAAAACCCATCTAAATTT	0.393000													22	52					1.10513e-12	1.78372e-12	0.002299	1	0
SAMD9L	219285	broad.mit.edu	37	7	92761383	92761383	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:92761383C>T	ENST00000318238.4	-	5	5118	c.3902G>A	c.(3901-3903)aGg>aAg	p.R1301K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R1301K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R1301K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1301										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTGTATTTCCTGAAACAACG	0.338000													20	42					0	0	0.001882	0	0
SCAF4	57466	broad.mit.edu	37	21	33073348	33073348	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:33073348G>A	ENST00000286835.7	-	7	1119	c.737C>T	c.(736-738)gCt>gTt	p.A246V	SCAF4_ENST00000399804.1_Missense_Mutation_p.A246V|SCAF4_ENST00000434667.3_Missense_Mutation_p.A231V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	246						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGGGAAAGCAGCTTTTTGTTC	0.438000													12	99					0	0	0.001855	0	0
COQ10A	93058	broad.mit.edu	37	12	56661712	56661712	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:56661712G>C	ENST00000308197.5	+	2	530	c.269G>C	c.(268-270)cGt>cCt	p.R90P	RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.R73P|COQ10A_ENST00000433805.2_Missense_Mutation_p.R58P	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	90						mitochondrial inner membrane		p.R90H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TACTCGGAGCGTAGAATCATG	0.542000													34	72					0	0	0.006230	0	0
WHSC1	7468	broad.mit.edu	37	4	1955223	1955223	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:1955223C>T	ENST00000382895.3	+	14	2741	c.2310C>T	c.(2308-2310)tcC>tcT	p.S770S	WHSC1_ENST00000508803.1_Silent_p.S770S|WHSC1_ENST00000382891.5_Silent_p.S770S|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.S118S|WHSC1_ENST00000382892.2_Silent_p.S770S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	770					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCCATGCTTCCAACCCTTCAA	0.557000			T	IGH@	MM								11	139					0	0	0.000978	0	0
DNAH17	8632	broad.mit.edu	37	17	76455174	76455174	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:76455174T>A	ENST00000389840.5	-	61	9852	c.9728A>T	c.(9727-9729)gAc>gTc	p.D3243V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D3252V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGCGCCACGTCGCAGTAGAC	0.612000													24	184					0	0	0.003954	0	0
SLFN11	91607	broad.mit.edu	37	17	33680129	33680129	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:33680129C>T	ENST00000394566.1	-	7	2224	c.1952G>A	c.(1951-1953)cGg>cAg	p.R651Q	SLFN11_ENST00000308377.4_Missense_Mutation_p.R651Q	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	651						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAAGTTTTCCGGGTCTCTGC	0.383000													7	79					0	0	0.001984	0	0
CCR6	1235	broad.mit.edu	37	6	167549845	167549845	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:167549845C>A	ENST00000341935.5	+	3	679	c.127C>A	c.(127-129)Cag>Aag	p.Q43K	CCR6_ENST00000400926.2_Missense_Mutation_p.Q43K|CCR6_ENST00000349984.4_Missense_Mutation_p.Q43K	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	43					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GGAGGTCAGGCAGTTCTCCAG	0.428000													15	94					4.7546e-09	7.13578e-09	0.004007	1	0
MFSD7	84179	broad.mit.edu	37	4	678311	678311	+	Silent	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:678311G>C	ENST00000322224.4	-	6	1114	c.801C>G	c.(799-801)gcC>gcG	p.A267A	MFSD7_ENST00000404286.2_Silent_p.A268A|MFSD7_ENST00000503156.1_Silent_p.A203A|MFSD7_ENST00000515118.1_Silent_p.A171A|MFSD7_ENST00000347950.5_Silent_p.A149A			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	268					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GCTCCAGGAGGGCTGAGAAGC	0.617000											OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	57					0	0	0.001984	0	0
FGGY	55277	broad.mit.edu	37	1	60125890	60125890	+	Splice_Site	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:60125890G>C	ENST00000371218.4	+	13	1477		c.e13-1		FGGY_ENST00000371212.1_Splice_Site|FGGY_ENST00000474476.1_Splice_Site|FGGY_ENST00000303721.7_Splice_Site|FGGY_ENST00000371210.1_Splice_Site	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing						carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CATGCCTGCAGGTCACCGGAT	0.433000													26	63					0	0	0.005443	0	0
ZNF429	353088	broad.mit.edu	37	19	21720623	21720623	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:21720623G>C	ENST00000358491.4	+	4	1976	c.1768G>C	c.(1768-1770)Gag>Cag	p.E590Q	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TCATAGTGGAGAGAAACCCTA	0.353000													9	21					0	0	0.004482	0	0
FAM188B	84182	broad.mit.edu	37	7	30931580	30931580	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:30931580G>C	ENST00000265299.6	+	18	2311	c.2234G>C	c.(2233-2235)gGg>gCg	p.G745A	AQP1_ENST00000509504.1_Intron|INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_Intron	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	745										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTGGAAGGGGGCATCAGTG	0.537000													34	123					0	0	0.005524	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054814	72054814	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:72054814G>T	ENST00000555818.1	+	2	573	c.225G>T	c.(223-225)ggG>ggT	p.G75G	SIPA1L1_ENST00000358550.2_Silent_p.G75G|SIPA1L1_ENST00000381232.3_Silent_p.G75G	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	75					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAAAAATGGGGGTAAGGGCAA	0.483000													9	53					2.17888e-05	2.88843e-05	0.006214	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22867477	22867477	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:22867477A>C	ENST00000283645.4	+	19	2683	c.2553A>C	c.(2551-2553)gaA>gaC	p.E851D	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E851D	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	851					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTACTGCAGAAAAACCACGAC	0.443000													6	38					0	0	0.001984	0	0
HTR3A	3359	broad.mit.edu	37	11	113848584	113848584	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:113848584G>C	ENST00000504030.2	+	2	604	c.159G>C	c.(157-159)agG>agC	p.R53S	HTR3A_ENST00000299961.5_Missense_Mutation_p.R38S|HTR3A_ENST00000375498.2_Missense_Mutation_p.R59S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.R53S|HTR3A_ENST00000355556.2_Missense_Mutation_p.R59S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	53					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCCCCGTGAGGGACTGGAGGA	0.592000													12	55					0	0	0.001855	0	0
WBP11	51729	broad.mit.edu	37	12	14949807	14949807	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:14949807C>G	ENST00000261167.2	-	5	554	c.321G>C	c.(319-321)ttG>ttC	p.L107F	WBP11_ENST00000537574.1_Missense_Mutation_p.L107F	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	107					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTAGCTTTCTCAATTCTTTGT	0.338000													4	54					0	0	0.000248	0	0
LAMA4	3910	broad.mit.edu	37	6	112451149	112451149	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:112451149G>A	ENST00000230538.7	-	30	4459	c.4062C>T	c.(4060-4062)taC>taT	p.Y1354Y	LAMA4_ENST00000389463.4_Silent_p.Y1347Y|LAMA4_ENST00000522006.1_Silent_p.Y1347Y|LAMA4_ENST00000424408.2_Silent_p.Y1347Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1354	Laminin G-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGCCACCGAAGTAAAACTTCT	0.358000													5	36					0	0	0.001168	0	0
FAM57B	83723	broad.mit.edu	37	16	30037144	30037144	+	Splice_Site	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:30037144T>G	ENST00000380495.4	-	4	1176		c.e4-2		FAM57B_ENST00000279389.4_Splice_Site|FAM57B_ENST00000564806.1_Splice_Site	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B							endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TCGCCACACCTGGGCACAGAG	0.597000													5	65					0	0	0.000602	0	0
NCOR2	9612	broad.mit.edu	37	12	124950728	124950728	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:124950728G>C	ENST00000356219.3	-	6	851	c.696C>G	c.(694-696)gaC>gaG	p.D232E	NCOR2_ENST00000404621.1_Missense_Mutation_p.D232E|NCOR2_ENST00000397355.1_Missense_Mutation_p.D232E|NCOR2_ENST00000405201.1_Missense_Mutation_p.D232E|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000429285.2_Missense_Mutation_p.D232E	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	232					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCCGGTTCTCGTCGTAGATGA	0.657000													5	76					0	0	0.000602	0	0
LRP6	4040	broad.mit.edu	37	12	12315348	12315348	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:12315348G>A	ENST00000261349.4	-	10	2134	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	LRP6_ENST00000543091.1_Silent_p.I686I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	686	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGGCTCTGCTGATGGTCTGCA	0.433000													5	123					0	0	0.001168	0	0
ITGA8	8516	broad.mit.edu	37	10	15713616	15713616	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:15713616C>A	ENST00000378076.3	-	8	1186	c.833G>T	c.(832-834)gGg>gTg	p.G278V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	278					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G278E(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGAGAATCCCCAGTAAACTC	0.338000													12	15					1.3612e-06	1.909e-06	0.003163	1	0
PDE1C	5137	broad.mit.edu	37	7	31917623	31917623	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:31917623A>G	ENST00000396184.3	-	6	656	c.452T>C	c.(451-453)gTt>gCt	p.V151A	PDE1C_ENST00000396182.2_Missense_Mutation_p.V151A|PDE1C_ENST00000396191.1_Missense_Mutation_p.V151A|PDE1C_ENST00000396193.1_Missense_Mutation_p.V211A|PDE1C_ENST00000321453.7_Missense_Mutation_p.V151A	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	151					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCTCAGTCCAACCATGTTTGA	0.343000													8	29					0	0	0.000978	0	0
ZNF583	147949	broad.mit.edu	37	19	56925402	56925402	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:56925402G>T	ENST00000333201.9	+	3	294	c.84G>T	c.(82-84)agG>agT	p.R28S	ZNF583_ENST00000291598.7_Missense_Mutation_p.R28S	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTGCTCAGAGGAATTTGTACA	0.438000													22	35					1.64293e-13	2.67522e-13	0.003330	1	0
IGHV5-51	28388	broad.mit.edu	37	14	107034728	107034728	+	RNA	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:107034728G>T	ENST00000390626.2	-	0	410																											CTCACTGTGTGTCTCGCACAG	0.592000													12	115					3.27435e-08	4.78159e-08	0.002450	1	0
GABRB3	2562	broad.mit.edu	37	15	26806231	26806231	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:26806231G>A	ENST00000541819.2	-	9	1198	c.1096C>T	c.(1096-1098)Ctt>Ttt	p.L366F	GABRB3_ENST00000311550.5_Missense_Mutation_p.L310F|GABRB3_ENST00000299267.4_Missense_Mutation_p.L310F|GABRB3_ENST00000400188.3_Missense_Mutation_p.L239F|GABRB3_ENST00000545868.1_Missense_Mutation_p.L225F			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	310					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGCCCATAAGGTACATGTCA	0.478000													19	65					0	0	0.008871	0	0
DNAJC1	64215	broad.mit.edu	37	10	22209831	22209831	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:22209831G>A	ENST00000376980.3	-	4	723	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	145					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TTTCTCACCCGCCTGTAGTAG	0.408000													6	46					0	0	0.001168	0	0
GRAMD2	196996	broad.mit.edu	37	15	72459019	72459019	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:72459019C>A	ENST00000309731.7	-	7	510	c.497G>T	c.(496-498)cGg>cTg	p.R166L	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	166						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TACACTGTCCCGGGAGAGCAG	0.567000													13	40					3.27435e-08	4.78159e-08	0.002450	1	0
CDK13	8621	broad.mit.edu	37	7	40087427	40087427	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:40087427A>T	ENST00000181839.4	+	7	3156	c.2551A>T	c.(2551-2553)Ata>Tta	p.I851L	CDK13_ENST00000340829.5_Missense_Mutation_p.I851L|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	851	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CAGAGGGCAGATAAAACTTGC	0.308000													39	139					0	0	0.003214	0	0
SELE	6401	broad.mit.edu	37	1	169699613	169699613	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:169699613C>T	ENST00000333360.7	-	5	814	c.675G>A	c.(673-675)atG>atA	p.M225I	SELE_ENST00000367780.4_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.M225I|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.M225I|SELE_ENST00000367775.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.M225I|SELE_ENST00000367782.4_Missense_Mutation_p.M225I|SELE_ENST00000367779.4_Missense_Mutation_p.M225I|SELE_ENST00000367777.1_Missense_Mutation_p.M225I	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	225	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CTCCAGAGGACATACACTGCA	0.478000													8	56					0	0	0.006214	0	0
LRP2	4036	broad.mit.edu	37	2	170048464	170048464	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:170048464C>A	ENST00000263816.3	-	48	9195	c.8910G>T	c.(8908-8910)tgG>tgT	p.W2970C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2970	LDL-receptor class A 22.				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)	CATCACAGACCCAAGACTGGG	0.483000													16	41					9.16793e-09	1.3604e-08	0.004990	1	0
MAN1A2	10905	broad.mit.edu	37	1	117957422	117957422	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:117957422G>C	ENST00000356554.3	+	4	1478	c.743G>C	c.(742-744)aGa>aCa	p.R248T	MAN1A2_ENST00000482811.1_3'UTR	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	248					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		GATGGGCAAAGATGGATTGAA	0.373000													4	30					0	0	0.000248	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090816	91090816	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:91090816C>G	ENST00000373094.1	+	1	1158	c.313C>G	c.(313-315)Cat>Gat	p.H105D	PCDH11X_ENST00000298274.8_Missense_Mutation_p.H105D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.H105D|PCDH11X_ENST00000504220.1_Missense_Mutation_p.H105D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H105D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H105D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H105D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.H105D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H105D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	105	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAGGGATGAGCATTGCTTTTA	0.403000													17	38					0	0	0.007413	0	0
ZNF680	340252	broad.mit.edu	37	7	63982757	63982757	+	Silent	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:63982757A>G	ENST00000309683.6	-	4	526	c.375T>C	c.(373-375)agT>agC	p.S125S	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	125					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)				CACTTTTACAACTTATTCTTA	0.323000													5	67					0	0	0.000602	0	0
BAI1	575	broad.mit.edu	37	8	143569828	143569828	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:143569828G>T	ENST00000517894.1	+	14	3306	c.2412G>T	c.(2410-2412)agG>agT	p.R804S	BAI1_ENST00000323289.5_Missense_Mutation_p.R804S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	804					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGACAGGGTCACTGTGT	0.652000													20	41					3.51602e-12	5.63543e-12	0.008871	1	0
EYA1	2138	broad.mit.edu	37	8	72184041	72184041	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:72184041C>A	ENST00000340726.3	-	10	1557	c.918G>T	c.(916-918)cgG>cgT	p.R306R	EYA1_ENST00000303824.7_Silent_p.R300R|EYA1_ENST00000388743.2_Silent_p.R305R|EYA1_ENST00000388740.3_Silent_p.R273R|EYA1_ENST00000419131.1_Silent_p.R301R|EYA1_ENST00000388741.2_Silent_p.R272R|EYA1_ENST00000388742.4_Silent_p.R306R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	306					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCGGCCCCGTCCACGTG	0.463000													16	124					1.33834e-09	2.02179e-09	0.007413	1	0
DLK1	8788	broad.mit.edu	37	14	101201079	101201079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:101201079G>A	ENST00000341267.4	+	5	1240	c.998G>A	c.(997-999)tGg>tAg	p.W333*	DLK1_ENST00000331224.6_Nonsense_Mutation_p.W260*	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	333					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGCGAGACCTGGGTGTCCAAC	0.597000													10	44					0	0	0.000978	0	0
PARP8	79668	broad.mit.edu	37	5	50073902	50073902	+	Splice_Site	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:50073902G>T	ENST00000281631.5	+	8	676		c.e8-1		PARP8_ENST00000511363.2_Splice_Site|PARP8_ENST00000514342.2_Splice_Site|PARP8_ENST00000505554.1_Splice_Site|PARP8_ENST00000505697.2_Splice_Site|PARP8_ENST00000514067.2_Splice_Site|PARP8_ENST00000503750.2_Splice_Site	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTTGCTTTCAGGGAATATGGA	0.269000													7	17					0.00307968	0.00376269	0.003080	1	0
TROAP	10024	broad.mit.edu	37	12	49725133	49725133	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:49725133C>T	ENST00000551245.1	+	13	2616	c.2505C>T	c.(2503-2505)ggC>ggT	p.G835G	TROAP_ENST00000257909.3_Silent_p.G745G|TROAP_ENST00000547923.1_Silent_p.G424G			Q12815	TROAP_HUMAN	trophinin associated protein	336					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTCCCTCAGGCCCCACCCGGG	0.612000											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	21					0	0	0.008291	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368433	86368433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:86368433G>C	ENST00000400286.2	-	2	2809	c.2211C>G	c.(2209-2211)taC>taG	p.Y737*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	737						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCGTGGTTTTGTATTTCATAT	0.373000													24	163					0	0	0.006320	0	0
OR4K5	79317	broad.mit.edu	37	14	20389409	20389409	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:20389409T>A	ENST00000315915.4	+	1	669	c.644T>A	c.(643-645)gTc>gAc	p.V215D		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTCTTGGTCAGCTCCTAC	0.423000													9	94					0	0	0.006214	0	0
FGGY	55277	broad.mit.edu	37	1	59978093	59978093	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:59978093G>C	ENST00000371218.4	+	7	965	c.781G>C	c.(781-783)Gcc>Ccc	p.A261P	FGGY_ENST00000371212.1_Missense_Mutation_p.A173P|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Missense_Mutation_p.A261P	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	261					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					ACTCATTGATGCCCATGCAGG	0.493000													12	103					0	0	0.001855	0	0
TAAR6	319100	broad.mit.edu	37	6	132891774	132891774	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:132891774G>A	ENST00000275198.1	+	1	314	c.314G>A	c.(313-315)tGt>tAt	p.C105Y		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	105						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AGGAGTTTTTGTACTTTCCAC	0.512000													17	95					0	0	0.004007	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654017	46654017	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:46654017C>T	ENST00000253255.5	-	1	5202	c.5203G>A	c.(5203-5205)Gac>Aac	p.D1735N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1735					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAAAAGCAGTCAGTGTGACGT	0.413000													11	23					0	0	0.008291	0	0
ENPEP	2028	broad.mit.edu	37	4	111398162	111398162	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:111398162G>A	ENST00000265162.5	+	1	934	c.592G>A	c.(592-594)Ggc>Agc	p.G198S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	198					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTGGCTGAACGGCTCCCTCGT	0.507000													18	56					0	0	0.001523	0	0
YLPM1	56252	broad.mit.edu	37	14	75278382	75278382	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:75278382G>T	ENST00000325680.7	+	10	5412	c.5288G>T	c.(5287-5289)aGg>aTg	p.R1763M	YLPM1_ENST00000238571.3_Missense_Mutation_p.R1568M|YLPM1_ENST00000552421.1_Missense_Mutation_p.R1057M	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGTTTTGATAGGCCATCCTAT	0.428000													6	37					5.9392e-07	8.39334e-07	0.001168	1	0
CRYGS	1427	broad.mit.edu	37	3	186256733	186256733	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:186256733G>C	ENST00000392499.2	-	4	628	c.289C>G	c.(289-291)Cag>Gag	p.Q97E	CRYGS_ENST00000307944.5_Missense_Mutation_p.Q97E	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	97	Beta/gamma crystallin 'Greek key' 3.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TCAAAGATCTGAATCTTATAC	0.428000													19	29					0	0	0.002780	0	0
PPFIA2	8499	broad.mit.edu	37	12	81833761	81833761	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:81833761G>C	ENST00000550584.2	-	6	930	c.635C>G	c.(634-636)gCt>gGt	p.A212G	RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A59G|PPFIA2_ENST00000443686.3_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A212G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A212G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A138G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A194G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A194G|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A212G|PPFIA2_ENST00000545296.2_5'UTR	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	138										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCCTGATTAGCAGCAGCTAG	0.413000													10	25					0	0	0.008291	0	0
KAT6B	23522	broad.mit.edu	37	10	76603032	76603032	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:76603032C>A	ENST00000287239.4	+	3	906	c.417C>A	c.(415-417)ctC>ctA	p.L139L	KAT6B_ENST00000372711.1_Silent_p.L139L|KAT6B_ENST00000372714.1_Silent_p.L139L|KAT6B_ENST00000372724.1_Silent_p.L139L|KAT6B_ENST00000372725.1_Silent_p.L139L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	139	H15.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AAAGTGATCTCACAAGCACCA	0.493000													35	41					4.34311e-12	6.9129e-12	0.003271	1	0
SLC12A5	57468	broad.mit.edu	37	20	44664091	44664091	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:44664091G>T	ENST00000454036.1	+	3	341	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	SLC12A5_ENST00000539566.1_Missense_Mutation_p.A66S|SLC12A5_ENST00000372315.1_Missense_Mutation_p.A66S|SLC12A5_ENST00000243964.3_Missense_Mutation_p.A66S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	89					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGTGGCCTGGCCAACTACAC	0.587000													26	68					4.47668e-21	7.80027e-21	0.003954	1	0
TPTE	7179	broad.mit.edu	37	21	10933856	10933856	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:10933856G>T	ENST00000298232.7	-	16	1336	c.969C>A	c.(967-969)ggC>ggA	p.G323G	TPTE_ENST00000361285.4_Silent_p.G341G|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.G303G	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	341	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATTACCTGTGCCTCCTTTAC	0.323000													6	155					8.12818e-05	0.00010592	0.001984	1	0
CRTAM	56253	broad.mit.edu	37	11	122726461	122726461	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:122726461C>T	ENST00000227348.4	+	5	596	c.549C>T	c.(547-549)ctC>ctT	p.L183L		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	183	Ig-like C2-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCAGCACTCTCATAATCCACA	0.418000													21	41					0	0	0.002780	0	0
MSRB3	253827	broad.mit.edu	37	12	65762787	65762787	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:65762787C>A	ENST00000308259.5	+	5	547	c.273C>A	c.(271-273)acC>acA	p.T91T	MSRB3_ENST00000540804.1_Silent_p.T98T|MSRB3_ENST00000355192.3_Silent_p.T98T|MSRB3_ENST00000535664.1_Silent_p.T91T	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	98					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GGTCAGAAACCAAATTTGACT	0.358000													4	32					2.7689e-08	4.07581e-08	0.001984	1	0
DENND1A	57706	broad.mit.edu	37	9	126144897	126144897	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr9:126144897T>A	ENST00000373624.2	-	22	2045	c.1844A>T	c.(1843-1845)gAt>gTt	p.D615V	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.D626V|DENND1A_ENST00000542603.1_Missense_Mutation_p.D400V	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	615						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CCCGCCCAGATCCAGCCTCTG	0.612000													6	23					0	0	0.001984	0	0
PLAC8	51316	broad.mit.edu	37	4	84015946	84015946	+	Splice_Site	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:84015946T>C	ENST00000426923.2	-	4	322		c.e4-2		PLAC8_ENST00000509973.1_Splice_Site|PLAC8_ENST00000505406.1_Splice_Site|PLAC8_ENST00000411416.2_Splice_Site|PLAC8_ENST00000311507.4_Splice_Site|PLAC8_ENST00000515389.1_Splice_Site	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN	placenta-specific 8											large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				AATAGATCCCTGTTTGAAAAC	0.363000													11	26					0	0	0.000978	0	0
IMPDH2	3615	broad.mit.edu	37	3	49061938	49061938	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:49061938T>C	ENST00000326739.4	-	13	1552	c.1513A>G	c.(1513-1515)Agc>Ggc	p.S505G		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	505					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GAATGGAGGCTATGGACGCCA	0.562000													3	71					0	0	0.004672	0	0
PTRHD1	391356	broad.mit.edu	37	2	25013390	25013390	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:25013390G>C	ENST00000328379.4	-	2	317	c.313C>G	c.(313-315)Cac>Gac	p.H105D	PTRHD1_ENST00000487316.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	105					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						CACAGCATGTGGTCAATGTTC	0.507000													4	29					0	0	0.000602	0	0
DEFB110	245913	broad.mit.edu	37	6	49986794	49986794	+	Missense_Mutation	SNP	C	C	T	rs145542651		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:49986794C>T	ENST00000371148.2	-	2	145	c.100G>A	c.(100-102)Gag>Aag	p.E34K	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	34					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATTCTGCACTCTCTCCTCAAG	0.388000													14	55					0	0	0.003163	0	0
RASA3	22821	broad.mit.edu	37	13	114782827	114782827	+	Splice_Site	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:114782827C>T	ENST00000334062.7	-	12	1213	c.1091_splice	c.e12-1	p.Q364_splice	RASA3_ENST00000542651.1_3'UTR|RASA3_ENST00000389544.4_Splice_Site_p.Q332_splice	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	364	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGTTGGGGTCCCTGGGAAATG	0.617000											OREG0022538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	33					0	0	0.000978	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686215	4686215	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:4686215G>T	ENST00000270560.3	+	4	493	c.462G>T	c.(460-462)tgG>tgT	p.W154C		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	154						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						TGGTCCCCTGGAATGTGACGC	0.637000													26	29					6.32553e-13	1.02276e-12	0.004656	1	0
PATL1	219988	broad.mit.edu	37	11	59406553	59406553	+	Silent	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:59406553C>G	ENST00000300146.9	-	18	2343	c.2259G>C	c.(2257-2259)cgG>cgC	p.R753R	AP000442.1_ENST00000531311.1_RNA|AP000442.1_ENST00000531108.1_RNA	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	753	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TCAGTTTCTGCCGGTCAACAT	0.473000													3	29					0	0	0.004672	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632249	156632249	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:156632249G>T	ENST00000296518.7	+	6	1141	c.932G>T	c.(931-933)aGg>aTg	p.R311M	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R311M|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R311M|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R311M|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R53M|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R311M|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R311M			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	311					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)		CTGATGAACAGGAGAGACTTT	0.383000													17	20					5.01169e-05	6.56803e-05	0.004990	1	0
TRPC6	7225	broad.mit.edu	37	11	101347148	101347148	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:101347148G>C	ENST00000344327.3	-	6	2052	c.1628C>G	c.(1627-1629)gCg>gGg	p.A543G	TRPC6_ENST00000348423.4_Missense_Mutation_p.A427G|TRPC6_ENST00000360497.4_Missense_Mutation_p.A488G|TRPC6_ENST00000532133.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	543					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CATGAATCTCGCAATGAATGA	0.413000													10	39					0	0	0.008291	0	0
SERPINB8	5271	broad.mit.edu	37	18	61650815	61650815	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr18:61650815A>G	ENST00000397985.2	+	5	683	c.427A>G	c.(427-429)Aag>Gag	p.K143E	SERPINB8_ENST00000397988.3_Missense_Mutation_p.K143E|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.K143E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	143					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTTTATAGGTAAGATTTCAGA	0.403000													9	32					0	0	0.008291	0	0
LOC645752	645752	broad.mit.edu	37	15	78211390	78211390	+	RNA	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:78211390T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							ACACAGTCTCTCCAGCTCCCG	0.602000													42	87					0	0	0.002522	0	0
TPTE2	93492	broad.mit.edu	37	13	20049755	20049755	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:20049755A>C	ENST00000400230.2	-	5	232	c.188T>G	c.(187-189)aTt>aGt	p.I63S	TPTE2_ENST00000382978.1_Missense_Mutation_p.I63S|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.I63S|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.I63S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	63						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATTTTCTTAATCTTGCTGCT	0.284000													6	16					0	0	0.001984	0	0
RAVER2	55225	broad.mit.edu	37	1	65270692	65270692	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:65270692G>C	ENST00000294428.3	+	8	1393	c.1315G>C	c.(1315-1317)Gag>Cag	p.E439Q	RAVER2_ENST00000371072.4_Missense_Mutation_p.E426Q|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	439						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTTACTTGGAGAGCCCCCAGC	0.413000													47	70					0	0	0.003610	0	0
LINC00969	440993	broad.mit.edu	37	3	195410640	195410640	+	RNA	SNP	T	T	C	rs6583273	by1000genomes	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837																											TTGATGAGTATGATCACTCCA	0.468000													3	11					0	0	0.000248	0	0
IL1RL1	9173	broad.mit.edu	37	2	102956636	102956636	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:102956636G>C	ENST00000311734.2	+	4	690	c.351G>C	c.(349-351)ttG>ttC	p.L117F	IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.L117F|IL1RL1_ENST00000233954.1_Missense_Mutation_p.L117F|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000393393.3_Missense_Mutation_p.L117F			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	117	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CAGATTATTTGATGTATTCAA	0.343000													14	12					0	0	0.001855	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453891	84453891	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:84453891C>T	ENST00000377084.2	-	1	2637	c.1752G>A	c.(1750-1752)agG>agA	p.R584R		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	584						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGGGCGAGATCCTAGCGTACA	0.537000													9	12					0	0	0.004482	0	0
MAP7D3	79649	broad.mit.edu	37	X	135312579	135312579	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:135312579C>T	ENST00000316077.9	-	10	1935	c.1715G>A	c.(1714-1716)tGt>tAt	p.C572Y	MAP7D3_ENST00000370663.5_Missense_Mutation_p.C554Y|MAP7D3_ENST00000370661.1_Missense_Mutation_p.C537Y	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	572						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CAAAGCCTCACATCTGTTAGT	0.358000													12	28					0	0	0.001368	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882992	228882992	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:228882992G>T	ENST00000392056.3	-	7	2624	c.2578C>A	c.(2578-2580)Caa>Aaa	p.Q860K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q860K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	860						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGGACCTTTGTCCTTCGGAA	0.488000													30	119					1.80694e-10	2.80809e-10	0.001786	1	0
CLINT1	9685	broad.mit.edu	37	5	157214736	157214736	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:157214736C>T	ENST00000523094.1	-	12	2001	c.1796G>A	c.(1795-1797)gGc>gAc	p.G599D	CLINT1_ENST00000530742.1_Missense_Mutation_p.G599D|CLINT1_ENST00000411809.2_Missense_Mutation_p.G599D|CLINT1_ENST00000296951.5_Missense_Mutation_p.G599D|CLINT1_ENST00000523908.1_Missense_Mutation_p.G617D	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	599	Met-rich.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGGGCATGCCCATTCCCAT	0.463000													5	193					0	0	0.000602	0	0
NRF1	4899	broad.mit.edu	37	7	129351329	129351329	+	Silent	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:129351329A>T	ENST00000393232.1	+	8	1095	c.978A>T	c.(976-978)gcA>gcT	p.A326A	NRF1_ENST00000311967.2_Silent_p.A326A|NRF1_ENST00000539636.1_Silent_p.A165A|NRF1_ENST00000223190.4_Silent_p.A326A|NRF1_ENST00000393230.2_Silent_p.A326A|NRF1_ENST00000393231.3_Silent_p.A326A|NRF1_ENST00000353868.4_Silent_p.A260A	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	326	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GTACGGGGGCAACAGTAGCCA	0.463000													11	7					0	0	0.001368	0	0
NPAP1	23742	broad.mit.edu	37	15	24923002	24923002	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:24923002G>C	ENST00000329468.2	+	1	2462	c.1988G>C	c.(1987-1989)aGt>aCt	p.S663T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCTCTCCCCAGTGCCTGTGTT	0.502000													4	95					0	0	0.000602	0	0
SHANK3	85358	broad.mit.edu	37	22	51160072	51160072	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr22:51160072G>T	ENST00000414786.2	+	21	3996	c.3769G>T	c.(3769-3771)Ggc>Tgc	p.G1257C	SHANK3_ENST00000262795.3_Missense_Mutation_p.G1287C|SHANK3_ENST00000445220.2_Missense_Mutation_p.G1273C			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1287										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCCAGGCCAGGGCAGCTCAGA	0.716000													3	7					0.004672	0.0056705	0.004672	1	0
NLRP6	171389	broad.mit.edu	37	11	284284	284284	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:284284G>A	ENST00000534750.1	+	6	2458	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	NLRP6_ENST00000312165.5_Silent_p.L752L	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	752						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		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;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGAGGCCCTGAGGGCAGCCC	0.642000													14	14					0	0	0.003163	0	0
RAP2B	5912	broad.mit.edu	37	3	152880554	152880554	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:152880554G>A	ENST00000323534.2	+	1	526	c.72G>A	c.(70-72)gtG>gtA	p.V24V		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	24					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGCAGTTCGTGACGGGCTCCT	0.622000													5	32					0	0	0.000602	0	0
WDR70	55100	broad.mit.edu	37	5	37725057	37725057	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:37725057G>C	ENST00000265107.4	+	16	1775	c.1619G>C	c.(1618-1620)cGt>cCt	p.R540P		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	540										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTATGTTCCGTGAGCCCCGC	0.458000													5	147					0	0	0.001168	0	0
CUL3	8452	broad.mit.edu	37	2	225379485	225379485	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:225379485C>G	ENST00000264414.4	-	4	721	c.383G>C	c.(382-384)cGt>cCt	p.R128P	CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409096.1_Missense_Mutation_p.R104P|CUL3_ENST00000344951.4_Missense_Mutation_p.R62P|CUL3_ENST00000409777.1_Missense_Mutation_p.R104P	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	128					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TACATACACACGGTCCTACAG	0.308000													6	18					0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:7578463C>G	ENST00000420246.2	-	5	599	c.467G>C	c.(466-468)cGc>cCc	p.R156P	TP53_ENST00000413465.2_Missense_Mutation_p.R156P|TP53_ENST00000445888.2_Missense_Mutation_p.R156P|TP53_ENST00000359597.4_Missense_Mutation_p.R156P|TP53_ENST00000455263.2_Missense_Mutation_p.R156P|TP53_ENST00000269305.4_Missense_Mutation_p.R156P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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)		GGCGCGGACGCGGGTGCCGGG	0.612000		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)			13	27					0	0	0.001855	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994582	140994582	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:140994582G>A	ENST00000285879.4	+	4	1678	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	464							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCCCCTGAGAGAACTCACA	0.478000										HNSCC(15;0.026)			40	62					0	0	0.006999	0	0
RLIM	51132	broad.mit.edu	37	X	73812770	73812770	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:73812770C>T	ENST00000332687.6	-	4	598	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	RLIM_ENST00000349225.2_Missense_Mutation_p.R127Q	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	127					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGATTAGTCCGACTCACTGC	0.393000													4	75					0	0	0.000248	0	0
FIP1L1	81608	broad.mit.edu	37	4	54257193	54257193	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:54257193T>A	ENST00000507166.1	+	8	523	c.523T>A	c.(523-525)Tat>Aat	p.Y175N	FIP1L1_ENST00000306932.6_Missense_Mutation_p.Y160N|FIP1L1_ENST00000358575.5_Missense_Mutation_p.Y160N|FIP1L1_ENST00000337488.6_Missense_Mutation_p.Y175N|FIP1L1_ENST00000507922.1_Missense_Mutation_p.Y160N			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	175	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCTTTCTGATTATTTTAATTA	0.299000			T	PDGFRA	idiopathic hypereosinophilic syndrome								8	37					0	0	0.003080	0	0
PRB2	653247	broad.mit.edu	37	12	11546479	11546479	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:11546479C>A	ENST00000389362.4	-	3	568	c.533G>T	c.(532-534)gGa>gTa	p.G178V	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGA	0.592000													91	300					2.76703e-59	5.00131e-59	0.003610	1	0
DARS2	55157	broad.mit.edu	37	1	173799862	173799862	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:173799862G>C	ENST00000361951.4	+	4	1086	c.359G>C	c.(358-360)gGt>gCt	p.G120A	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	120					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CAAGTGTCTGGTACAGTCATT	0.443000													28	52					0	0	0.002096	0	0
TEKT4P2	100132288	broad.mit.edu	37	21	9907370	9907370	+	RNA	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:9907370G>T	ENST00000416067.1	-	0	1422					NR_037872.1|NR_038327.1																						TCATGTGGATGTCCTTGAGGT	0.577000													8	4					2.74318e-10	4.23444e-10	0.006214	1	0
KIFAP3	22920	broad.mit.edu	37	1	169993679	169993679	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:169993679C>T	ENST00000367765.1	-	9	2281	c.780G>A	c.(778-780)agG>agA	p.R260R	KIFAP3_ENST00000538366.1_Silent_p.R222R|KIFAP3_ENST00000540905.1_Silent_p.R2R|RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000367767.1_Silent_p.R256R|KIFAP3_ENST00000361580.2_Silent_p.R300R	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	300					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTTCTTGTTCCTCATTTTCA	0.343000													4	41					0	0	0.000248	0	0
SLC6A3	6531	broad.mit.edu	37	5	1420756	1420756	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:1420756G>A	ENST00000270349.9	-	6	982	c.855C>T	c.(853-855)gtC>gtT	p.V285V	SLC6A3_ENST00000453492.2_Silent_p.V285V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	285					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CAGGGAGGGTGACCCCACGCA	0.597000													9	68					0	0	0.004482	0	0
DEFB112	245915	broad.mit.edu	37	6	50016296	50016296	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:50016296G>A	ENST00000322246.4	-	1	68	c.69C>T	c.(67-69)tcC>tcT	p.S23S		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	23					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CAAATATTGTGGAAGATGTAT	0.333000													6	50					0	0	0.001984	0	0
CCR8	1237	broad.mit.edu	37	3	39374285	39374285	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:39374285C>A	ENST00000326306.4	+	2	601	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	CCR8_ENST00000414803.1_Missense_Mutation_p.P97H|CCR8_ENST00000545843.1_Missense_Mutation_p.L72M	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	155					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AACGCTGTGCCTGGCAGTATG	0.488000													43	84					5.44703e-19	9.402e-19	0.002222	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253439	32253439	+	Silent	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:32253439T>A	ENST00000332378.4	-	1	435	c.405A>T	c.(403-405)ggA>ggT	p.G135G		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	135	4 X 10 AA approximate repeats.					keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						TAGAGACTCCTCCCACTGGTT	0.602000													20	49					0	0	0.001882	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27783005	27783005	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:27783005A>G	ENST00000359465.4	+	1	184	c.184A>G	c.(184-186)Atc>Gtc	p.I62V		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	62					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GGCTATGGGAATCATGAACTC	0.552000													7	142					0	0	0.001984	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234744702	234744702	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:234744702C>A	ENST00000366609.3	-	1	569	c.539G>T	c.(538-540)cGc>cTc	p.R180L	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.R180L	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	180	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CGCGTGGCCGCGCCGCGGGTT	0.751000													5	7					0.00116845	0.00144875	0.001168	1	0
GRID2	2895	broad.mit.edu	37	4	94006358	94006358	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:94006358C>A	ENST00000282020.4	+	3	715	c.457C>A	c.(457-459)Cat>Aat	p.H153N	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	153					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGTCTACTTGCATGATGTTAT	0.448000													12	63					0.000151284	0.000196031	0.001855	1	0
GRB10	2887	broad.mit.edu	37	7	50799980	50799980	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:50799980G>C	ENST00000398812.2	-	1	70	c.40C>G	c.(40-42)Ccg>Gcg	p.P14A	GRB10_ENST00000406641.1_Intron|GRB10_ENST00000403097.1_Intron|GRB10_ENST00000357271.5_Missense_Mutation_p.P14A|GRB10_ENST00000401949.1_Missense_Mutation_p.P14A|GRB10_ENST00000335866.3_Intron|GRB10_ENST00000407526.1_Intron|GRB10_ENST00000402497.1_Intron	NM_005311.4	NP_005302.3	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	14					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TGGTAGTACGGATGGTGCAAA	0.537000									Russell-Silver syndrome				3	75					0	0	0.000248	0	0
GABRB3	2562	broad.mit.edu	37	15	26792980	26792980	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:26792980G>C	ENST00000541819.2	-	10	1652	c.1550C>G	c.(1549-1551)tCt>tGt	p.S517C	GABRB3_ENST00000311550.5_Missense_Mutation_p.S461C|GABRB3_ENST00000299267.4_Missense_Mutation_p.S461C|GABRB3_ENST00000400188.3_Missense_Mutation_p.S390C|GABRB3_ENST00000545868.1_Missense_Mutation_p.S376C			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	461					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.S461F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTGAAAAGAGAAAAAGTGAA	0.378000													14	39					0	0	0.003163	0	0
ADH1C	126	broad.mit.edu	37	4	100264151	100264151	+	RNA	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:100264151A>G	ENST00000515683.1	-	0	980				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTTACAGCCCATAACAACAGA	0.458000													43	285					0	0	0.002852	0	0
OR2L13	284521	broad.mit.edu	37	1	248263328	248263328	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:248263328T>C	ENST00000366478.2	+	3	988	c.651T>C	c.(649-651)tgT>tgC	p.C217C	OR2L13_ENST00000358120.2_Silent_p.C217C	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTTCTTCCTGTGGCCGAGTCC	0.408000													14	55					0	0	0.002450	0	0
HELB	92797	broad.mit.edu	37	12	66724946	66724946	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:66724946C>G	ENST00000247815.4	+	12	2742	c.2683C>G	c.(2683-2685)Caa>Gaa	p.Q895E		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	895					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTCCGAGGAGCAAACAGTTGT	0.517000													11	124					0	0	0.008291	0	0
GALNT3	2591	broad.mit.edu	37	2	166626886	166626886	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:166626886G>C	ENST00000392701.3	-	2	1100	c.325C>G	c.(325-327)Cct>Gct	p.P109A		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	109					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TCAAGGACAGGCTTCAATTCT	0.438000													18	57					0	0	0.006122	0	0
OTX1	5013	broad.mit.edu	37	2	63282686	63282686	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:63282686G>T	ENST00000282549.2	+	5	576	c.300G>T	c.(298-300)ggG>ggT	p.G100G	OTX1_ENST00000366671.3_Silent_p.G100G	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	100						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCAGAGCGGGAGCGGAACCA	0.647000													16	12					2.23348e-06	3.07606e-06	0.004007	1	0
DEFB112	245915	broad.mit.edu	37	6	50016295	50016295	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:50016295T>A	ENST00000322246.4	-	1	69	c.70A>T	c.(70-72)Aca>Tca	p.T24S		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	24					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCAAATATTGTGGAAGATGTA	0.333000													6	50					0	0	0.001984	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40840598	40840598	+	Silent	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:40840598G>C	ENST00000264638.4	+	9	1642	c.1425G>C	c.(1423-1425)ctG>ctC	p.L475L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	475	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACCCGTTGCTGATCCGGACAG	0.527000													5	53					0	0	0.001168	0	0
MTTP	4547	broad.mit.edu	37	4	100522817	100522817	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:100522817C>A	ENST00000457717.1	+	11	1546	c.1290C>A	c.(1288-1290)atC>atA	p.I430I	MTTP_ENST00000265517.5_Silent_p.I430I|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.I457I	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	430	Vitellogenin.				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)	CTGTTATGATCATCACTGGGA	0.358000													15	100					6.72482e-11	1.04862e-10	0.003163	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12837494	12837494	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:12837494G>A	ENST00000357726.4	+	3	1231	c.1204G>A	c.(1204-1206)Ggg>Agg	p.G402R		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	402										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACACCGTCGGGCTGAGCAA	0.612000													103	101					0	0	0.003610	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126042	31126042	+	Silent	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:31126042G>T	ENST00000304166.4	+	10	1003	c.714G>T	c.(712-714)gtG>gtT	p.V238V	ADCYAP1R1_ENST00000396211.2_Silent_p.V238V|ADCYAP1R1_ENST00000409489.1_Silent_p.V238V|ADCYAP1R1_ENST00000409363.1_Silent_p.V217V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	238					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACTGTGTTGTGTCCAACTACT	0.537000													8	32					0.00307968	0.00376269	0.003080	1	0
C7orf60	154743	broad.mit.edu	37	7	112462386	112462386	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:112462386G>A	ENST00000297145.4	-	5	796	c.631C>T	c.(631-633)Cca>Tca	p.P211S		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	211										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AGCTGGAGTGGTTGCTGAAGC	0.388000													11	15					0	0	0.000978	0	0
PMS2	5395	broad.mit.edu	37	7	6042127	6042127	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:6042127G>A	ENST00000265849.7	-	5	599	c.494C>T	c.(493-495)aCa>aTa	p.T165I	PMS2_ENST00000382321.4_Missense_Mutation_p.T165I|PMS2_ENST00000406569.3_Missense_Mutation_p.T165I|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.T59I	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	165					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CACAGGTAGTGTGGAAAATAA	0.433000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				44	99					0	0	0.003610	0	0
LINC00303	284573	broad.mit.edu	37	1	204009446	204009446	+	RNA	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:204009446G>A	ENST00000367207.3	-	0	250																											GAGACTGTAGGGGTGAGTTGA	0.448000													4	8					0	0	0.000248	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67069117	67069117	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:67069117G>A	ENST00000447274.2	+	13	2421	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.E416K|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.E416K|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.E153K|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.E503K|ANKRD13D_ENST00000504236.1_3'UTR			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	416										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACTGAGGCGGAGCAGGTGGG	0.667000													11	23					0	0	0.001368	0	0
HNF4A	3172	broad.mit.edu	37	20	43043174	43043174	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:43043174G>A	ENST00000316099.3	+	5	609	c.520G>A	c.(520-522)Ggc>Agc	p.G174S	HNF4A_ENST00000443598.2_Missense_Mutation_p.G174S|HNF4A_ENST00000457232.1_Missense_Mutation_p.G152S|HNF4A_ENST00000415691.1_Missense_Mutation_p.G174S	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	174					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGGATCAACGGCGACATTCG	0.582000													5	20					0	0	0.001168	0	0
DGKB	1607	broad.mit.edu	37	7	14647102	14647102	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:14647102G>C	ENST00000403951.2	-	17	1812	c.1393C>G	c.(1393-1395)Cct>Gct	p.P465A	DGKB_ENST00000258767.5_Missense_Mutation_p.P465A|DGKB_ENST00000444700.2_Missense_Mutation_p.P446A|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.P465A|DGKB_ENST00000407950.1_Missense_Mutation_p.P457A|DGKB_ENST00000402815.1_Missense_Mutation_p.P464A|DGKB_ENST00000399322.3_Missense_Mutation_p.P465A			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	465	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACCTGACGAGGATTTAATAGA	0.279000													6	25					0	0	0.003080	0	0
MUC5B	727897	broad.mit.edu	37	11	1271064	1271064	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:1271064C>A	ENST00000447027.1	+	31	13021	c.12963C>A	c.(12961-12963)tcC>tcA	p.S4321S	MUC5B_ENST00000529681.1_Silent_p.S4318S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4318	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCAAATCCACAGCTACCA	0.612000													41	82					4.67007e-22	8.21503e-22	0.008740	1	0
NCAM2	4685	broad.mit.edu	37	21	22839027	22839027	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:22839027C>A	ENST00000400546.1	+	13	2004	c.1755C>A	c.(1753-1755)atC>atA	p.I585I	NCAM2_ENST00000284894.7_Silent_p.I443I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	585	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAATAGAAATCTTCCAAACAT	0.323000													10	15					1.58986e-06	2.21954e-06	0.008291	1	0
GRM6	2916	broad.mit.edu	37	5	178418464	178418464	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:178418464G>A	ENST00000231188.5	-	3	996	c.818C>T	c.(817-819)gCc>gTc	p.A273V	GRM6_ENST00000517717.1_Missense_Mutation_p.A273V	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	273					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GATGCCCCGGGCGTTGGGCGT	0.597000													57	76					0	0	0.003610	0	0
AP2B1	163	broad.mit.edu	37	17	34001246	34001246	+	Missense_Mutation	SNP	A	A	T	rs147829807		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:34001246A>T	ENST00000262325.7	+	16	2741	c.2188A>T	c.(2188-2190)Act>Tct	p.T730S	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Missense_Mutation_p.T673S|AP2B1_ENST00000592545.1_Missense_Mutation_p.T706S|AP2B1_ENST00000589344.1_Missense_Mutation_p.T744S|AP2B1_ENST00000537622.2_Missense_Mutation_p.T744S|AP2B1_ENST00000312678.8_Missense_Mutation_p.T744S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	730					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CGGAACATTTACTCACCGCCA	0.398000													35	61					0	0	0.004289	0	0
CREM	1390	broad.mit.edu	37	10	35477238	35477238	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:35477238A>G	ENST00000333809.8	+	6	721	c.667A>G	c.(667-669)Aca>Gca	p.T223A	CREM_ENST00000345491.3_Missense_Mutation_p.T174A|CREM_ENST00000348787.2_Intron|CREM_ENST00000342105.3_Missense_Mutation_p.T119A|CREM_ENST00000395887.3_Missense_Mutation_p.T144A|CREM_ENST00000337656.4_Missense_Mutation_p.T174A|CREM_ENST00000484283.1_Intron|CREM_ENST00000479070.1_Missense_Mutation_p.T174A|CREM_ENST00000474362.1_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000374721.3_Intron|CREM_ENST00000463960.1_Intron|CREM_ENST00000463314.1_Missense_Mutation_p.T12A|CREM_ENST00000460270.1_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000429130.3_Missense_Mutation_p.T207A|CREM_ENST00000395895.2_Missense_Mutation_p.T223A|CREM_ENST00000354759.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000361599.4_Missense_Mutation_p.T144A	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	223					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						ACCAGGTGCTACAATTGTACA	0.453000													13	23					0	0	0.001855	0	0
OR4C46	119749	broad.mit.edu	37	11	51515693	51515693	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:51515693G>T	ENST00000328188.1	+	1	412	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GAACCAGTGTGTGTGTGCCCT	0.488000													30	87					3.90053e-15	6.46574e-15	0.002445	1	0
MTUS2	23281	broad.mit.edu	37	13	29600946	29600946	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:29600946A>G	ENST00000431530.3	+	1	2199	c.2141A>G	c.(2140-2142)cAg>cGg	p.Q714R		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	704	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCAGACCTGCAGAAGCCAAGG	0.517000													11	42					0	0	0.008291	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159718	18159718	+	Nonstop_Mutation	SNP	A	A	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:18159718A>T	ENST00000396275.2	+	3	1330	c.969A>T	c.(967-969)tgA>tgT	p.*323C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGAGCAGTGAGGAAGAACCT	0.537000													18	33					0	0	0.004990	0	0
CCDC70	83446	broad.mit.edu	37	13	52440107	52440107	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr13:52440107T>C	ENST00000242819.4	+	2	889	c.593T>C	c.(592-594)tTc>tCc	p.F198S		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	198						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GAGAGGGCCTTCTGGATGGAG	0.592000													6	52					0	0	0.001984	0	0
C8B	732	broad.mit.edu	37	1	57425747	57425747	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:57425747A>C	ENST00000543257.1	-	3	605	c.39T>G	c.(37-39)tgT>tgG	p.C13W	C8B_ENST00000535057.1_5'UTR|C8B_ENST00000371237.4_Missense_Mutation_p.C65W|C8B_ENST00000494324.1_5'UTR	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	65					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TAGACAGCTCACAATCAATGG	0.507000													20	49					0	0	0.008871	0	0
KCNB2	9312	broad.mit.edu	37	8	73848562	73848562	+	Silent	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:73848562G>C	ENST00000523207.1	+	3	1560	c.972G>C	c.(970-972)ctG>ctC	p.L324L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	324					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGCAGTCTCTGGGTTTCACCC	0.493000													3	64					0	0	0.004672	0	0
SPTA1	6708	broad.mit.edu	37	1	158632624	158632624	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:158632624G>T	ENST00000368148.3	-	17	2512	c.2332C>A	c.(2332-2334)Ctg>Atg	p.L778M	SPTA1_ENST00000368147.3_Missense_Mutation_p.L778M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	778					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L778M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCTCTTTCAGAGCTTCAAAT	0.473000													9	40					7.48243e-07	1.0558e-06	0.006214	1	0
GRM5	2915	broad.mit.edu	37	11	88780591	88780591	+	Silent	SNP	G	G	A	rs140160566	by1000genomes	TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:88780591G>A	ENST00000418177.2	-	2	817	c.450C>T	c.(448-450)ggC>ggT	p.G150G	GRM5_ENST00000455756.2_Silent_p.G150G|GRM5_ENST00000305432.5_Silent_p.G150G|GRM5_ENST00000393294.3_Silent_p.G150G|GRM5_ENST00000393297.1_Silent_p.G150G|GRM5_ENST00000305447.4_Silent_p.G150G			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	150					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGAACTGGAGCCAGGCCCAA	0.502000													5	56					0	0	0.001984	0	0
TAF6L	10629	broad.mit.edu	37	11	62550192	62550192	+	Silent	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:62550192C>G	ENST00000294168.3	+	9	1056	c.855C>G	c.(853-855)ctC>ctG	p.L285L	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	285					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TAAGTGGCCTCTATCAGCATA	0.572000													7	61					0	0	0.003080	0	0
LONP1	9361	broad.mit.edu	37	19	5712005	5712005	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr19:5712005A>C	ENST00000360614.3	-	4	804	c.647T>G	c.(646-648)aTc>aGc	p.I216S	LONP1_ENST00000585374.1_Missense_Mutation_p.I102S|LONP1_ENST00000590729.1_Missense_Mutation_p.I102S|LONP1_ENST00000540670.2_Missense_Mutation_p.I20S|LONP1_ENST00000593119.1_Missense_Mutation_p.I152S	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	216	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						CTGTCTGCTGATATGGACTCT	0.652000													8	17					0	0	0.006214	0	0
CXorf66	347487	broad.mit.edu	37	X	139038325	139038325	+	Silent	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:139038325T>C	ENST00000370540.1	-	3	839	c.816A>G	c.(814-816)aaA>aaG	p.K272K		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	272						integral to membrane		p.H273fs*8(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CAACAAGATGTTTTTTCTTGT	0.388000													9	34					0	0	0.008291	0	0
FAT4	79633	broad.mit.edu	37	4	126239216	126239216	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:126239216G>A	ENST00000394329.3	+	1	1663	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	550	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATTGTTCTGAATATAAGTG	0.522000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	33					0	0	0.001168	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857238	140857238	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:140857238G>C	ENST00000308177.3	+	1	1659	c.1555G>C	c.(1555-1557)Gtg>Ctg	p.V519L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGGCATAGTGTCATCCTT	0.517000													10	38					0	0	0.000978	0	0
DENND4B	9909	broad.mit.edu	37	1	153913380	153913380	+	Splice_Site	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:153913380C>A	ENST00000361217.4	-	9	1744	c.1326_splice	c.e9+1	p.S442_splice		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	442	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGGCACTCACCGAGACGAGGG	0.612000													7	12					2.74318e-10	4.23444e-10	0.006214	1	0
TECRL	253017	broad.mit.edu	37	4	65275006	65275006	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:65275006T>A	ENST00000381210.3	-	1	174	c.64A>T	c.(64-66)Aca>Tca	p.T22S	TECRL_ENST00000507440.1_Missense_Mutation_p.T22S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	22					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						ATGAACCGTGTAGCTCTTTGG	0.438000													13	54					0	0	0.003163	0	0
DUSP15	128853	broad.mit.edu	37	20	30450378	30450378	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:30450378T>G	ENST00000278979.3	-	6	498	c.422A>C	c.(421-423)cAg>cCg	p.Q141P	DUSP15_ENST00000486996.1_Missense_Mutation_p.Q41P|DUSP15_ENST00000398083.1_Missense_Mutation_p.Q41P|DUSP15_ENST00000398084.2_Missense_Mutation_p.Q41P|DUSP15_ENST00000339738.5_Missense_Mutation_p.Q144P|DUSP15_ENST00000375966.4_Missense_Mutation_p.Q141P			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	141						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCCTACCTTCTGGGAACTGGC	0.582000													27	64					0	0	0.007291	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955552	12955552	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:12955552C>A	ENST00000235347.4	-	2	206	c.127G>T	c.(127-129)Gcc>Tcc	p.A43S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	43										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		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)		ATGCTGAAGGCCTCCATGAAC	0.582000													45	23					1.24741e-17	2.11347e-17	0.003610	1	0
VPS13D	55187	broad.mit.edu	37	1	12438582	12438582	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:12438582C>T	ENST00000358136.3	+	56	11148	c.11018C>T	c.(11017-11019)gCc>gTc	p.A3673V	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.A3648V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3672					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCTCAGCCGCCCGCTCCACC	0.527000													13	60					0	0	0.004007	0	0
STK3	6788	broad.mit.edu	37	8	99718862	99718862	+	Splice_Site	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:99718862C>A	ENST00000523601.1	-	8	1000	c.600_splice	c.e8-1	p.D201_splice	STK3_ENST00000419617.2_Splice_Site_p.D173_splice	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	173	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GCCATTGTATCCTGCAATAAT	0.383000													15	94					1.15088e-07	1.65181e-07	0.004007	1	0
OR4D11	219986	broad.mit.edu	37	11	59271159	59271159	+	Silent	SNP	G	G	T	rs146036577		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:59271159G>T	ENST00000313253.1	+	1	111	c.111G>T	c.(109-111)acG>acT	p.T37T		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGTACATGACGACTCTGCTGG	0.453000													17	113					5.3912e-06	7.3155e-06	0.006122	1	0
TBC1D19	55296	broad.mit.edu	37	4	26622245	26622245	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:26622245C>G	ENST00000264866.4	+	4	507	c.229C>G	c.(229-231)Cct>Gct	p.P77A	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	77						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GTTTCCTTTACCTAGTCATCC	0.358000													9	60					0	0	0.006214	0	0
CD82	3732	broad.mit.edu	37	11	44639739	44639739	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:44639739T>C	ENST00000227155.4	+	8	714	c.466T>C	c.(466-468)Tac>Cac	p.Y156H	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Missense_Mutation_p.Y131H	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	156						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						GGTCAGCTTCTACAACTGGAC	0.602000													7	57					0	0	0.004482	0	0
NPAT	4863	broad.mit.edu	37	11	108032341	108032341	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:108032341C>G	ENST00000278612.8	-	17	3577	c.3472G>C	c.(3472-3474)Gaa>Caa	p.E1158Q		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1158					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGAAAGATTCAAGCACAATT	0.363000													7	107					0	0	0.003080	0	0
WASH4P	374677	broad.mit.edu	37	16	66943	66943	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr16:66943G>A	ENST00000326592.9	-	5	1351	c.693C>T	c.(691-693)atC>atT	p.I231I																								CTCTCTTGCTGATGGACAAGG	0.592000													5	20					0	0	0.001984	0	0
DPYSL4	10570	broad.mit.edu	37	10	134017364	134017364	+	Silent	SNP	G	G	T	rs149648756		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:134017364G>T	ENST00000338492.4	+	13	1724	c.1560G>T	c.(1558-1560)gcG>gcT	p.A520A	DPYSL4_ENST00000368627.1_Silent_p.A360A|DPYSL4_ENST00000368629.1_Silent_p.A360A	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	520					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGGCCCGCGCGTCCTGCCCAG	0.672000													18	54					2.39187e-15	3.97925e-15	0.008871	1	0
HOXD3	3232	broad.mit.edu	37	2	177034076	177034076	+	Silent	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:177034076C>A	ENST00000468418.3	+	3	2324	c.234C>A	c.(232-234)gcC>gcA	p.A78A	HOXD3_ENST00000249440.3_Silent_p.A78A|HOXD3_ENST00000410016.1_Silent_p.A78A			P31249	HXD3_HUMAN	homeobox D3	78					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CTCTGAGAGCCCCAGCCCACA	0.657000													19	24					6.94344e-10	1.05761e-09	0.006122	1	0
TYR	7299	broad.mit.edu	37	11	88911839	88911839	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:88911839G>T	ENST00000263321.5	+	1	1220	c.718G>T	c.(718-720)Gat>Tat	p.D240Y	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	240			D -> V (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GGACTGGCGGGATGCAGAAAA	0.468000													14	46					8.60227e-14	1.4057e-13	0.004007	1	0
COL21A1	81578	broad.mit.edu	37	6	56006637	56006637	+	Splice_Site	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:56006637C>G	ENST00000244728.5	-	12	1886		c.e12-1		COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCGAGCTCCCTAAATTAACC	0.338000													4	33					0	0	0.000248	0	0
ANKRD36BP1	84832	broad.mit.edu	37	1	168215720	168215720	+	RNA	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:168215720C>G	ENST00000358576.4	-	0	861					NR_026844.1															lung(1)	1						AAAGCGTTTTCTTTCAGAGCC	0.393000													4	9					0	0	0.000248	0	0
TTC21A	199223	broad.mit.edu	37	3	39179822	39179822	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:39179822C>T	ENST00000301819.6	+	27	3941	c.3764C>T	c.(3763-3765)gCa>gTa	p.A1255V	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.A1206V|TTC21A_ENST00000431162.2_Missense_Mutation_p.A1254V	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1254							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TACAAGGATGCAGTCACCAAC	0.552000													4	13					0	0	0.000248	0	0
MAN2A1	4124	broad.mit.edu	37	5	109181676	109181676	+	Silent	SNP	T	T	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr5:109181676T>G	ENST00000261483.4	+	18	3863	c.2811T>G	c.(2809-2811)gcT>gcG	p.A937A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	937					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGCTCTCTGCTCAGTCATTAG	0.413000													20	80					0	0	0.001882	0	0
LEO1	123169	broad.mit.edu	37	15	52258168	52258168	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr15:52258168C>G	ENST00000299601.5	-	2	652	c.592G>C	c.(592-594)Gat>Cat	p.D198H	LEO1_ENST00000315141.5_Missense_Mutation_p.D198H	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	198	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTCTCATCATCGGAAAGCTGA	0.443000													10	239					0	0	0.008291	0	0
MSI2	124540	broad.mit.edu	37	17	55729473	55729473	+	Silent	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:55729473G>A	ENST00000284073.2	+	11	950	c.741G>A	c.(739-741)gcG>gcA	p.A247A	MSI2_ENST00000442934.2_Silent_p.A186A|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000416426.2_Silent_p.A225A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	247						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCCCAGCAGCGGCTTATGGAC	0.632000			T	HOXA9	CML								6	54					0	0	0.003080	0	0
SMOC2	64094	broad.mit.edu	37	6	169008869	169008869	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:169008869G>A	ENST00000354536.5	+	9	1110	c.890G>A	c.(889-891)aGg>aAg	p.R297K	SMOC2_ENST00000356284.2_Missense_Mutation_p.R286K	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	286					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AACACGGCCAGGGCCCACCCA	0.637000													8	17					0	0	0.008291	0	0
OPRL1	4987	broad.mit.edu	37	20	62730025	62730025	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr20:62730025G>A	ENST00000349451.3	+	6	1398	c.986G>A	c.(985-987)tGc>tAc	p.C329Y	OPRL1_ENST00000336866.2_Missense_Mutation_p.C329Y|OPRL1_ENST00000355631.4_Missense_Mutation_p.C329Y	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	329					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTCAAGGCCTGCTTCCGCAAG	0.632000													11	32					0	0	0.001368	0	0
CD2AP	23607	broad.mit.edu	37	6	47549760	47549760	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:47549760C>T	ENST00000359314.5	+	11	1523	c.1067C>T	c.(1066-1068)gCt>gTt	p.A356V		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	356	Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	p.A356D(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GAACTGATAGCTGCAGAGAAG	0.294000													13	76					0	0	0.006122	0	0
KLKB1	3818	broad.mit.edu	37	4	187172915	187172915	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:187172915C>G	ENST00000264690.6	+	10	1231	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L	KLKB1_ENST00000513864.1_Missense_Mutation_p.F348L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	348	Apple 4.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-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;0.00664)|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;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTAAGTGTTTCTTAAGATTAT	0.398000													41	48					0	0	0.006999	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848671	83848671	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:83848671A>C	ENST00000349129.2	+	21	5170	c.4910A>C	c.(4909-4911)cAa>cCa	p.Q1637P	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1628P|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1618P	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1637					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATCACATGTCAAGGCATGTTC	0.433000													15	49					0	0	0.002450	0	0
RAI1	10743	broad.mit.edu	37	17	17699940	17699940	+	Silent	SNP	G	G	C	rs144290584		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr17:17699940G>C	ENST00000353383.1	+	3	4147	c.3678G>C	c.(3676-3678)tcG>tcC	p.S1226S	RAI1_ENST00000261641.6_Silent_p.S1226S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1226						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAAGGAAGTCGGCCTTCATGG	0.657000													19	30					0	0	0.008871	0	0
ACACB	32	broad.mit.edu	37	12	109674996	109674996	+	Silent	SNP	C	C	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:109674996C>T	ENST00000338432.7	+	34	4592	c.4473C>T	c.(4471-4473)caC>caT	p.H1491H	ACACB_ENST00000543201.1_Silent_p.H157H|ACACB_ENST00000377848.3_Silent_p.H1491H|ACACB_ENST00000377854.5_Silent_p.H1421H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1491					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)	TTTACCGTCACTTGGAACCTG	0.552000													33	97					0	0	0.004289	0	0
PCNT	5116	broad.mit.edu	37	21	47773050	47773050	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:47773050C>A	ENST00000359568.5	+	10	1596	c.1489C>A	c.(1489-1491)Cgt>Agt	p.R497S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	497	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCGCACCTCTCGTGTGGAAGA	0.488000													18	51					4.96729e-08	7.21944e-08	0.008871	1	0
GALNT8	26290	broad.mit.edu	37	12	4881631	4881631	+	Silent	SNP	A	A	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:4881631A>G	ENST00000252318.2	+	11	2119	c.1782A>G	c.(1780-1782)agA>agG	p.R594R		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	594	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCATAAACAGAGATACCAAGC	0.522000													3	61					0	0	0.000248	0	0
MMP19	4327	broad.mit.edu	37	12	56230923	56230923	+	Missense_Mutation	SNP	C	C	T	rs144373478		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:56230923C>T	ENST00000394182.1	-	4	565	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	MMP19_ENST00000409200.3_3'UTR|MMP19_ENST00000322569.4_Missense_Mutation_p.R475Q|MMP19_ENST00000548629.1_Missense_Mutation_p.R452Q			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	475					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GTCTATAGTCCGGGGACGACA	0.507000													20	179					0	0	0.008871	0	0
SCUBE3	222663	broad.mit.edu	37	6	35211468	35211468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr6:35211468C>A	ENST00000274938.7	+	16	2007	c.2007C>A	c.(2005-2007)tgC>tgA	p.C669*	SCUBE3_ENST00000394681.1_Nonsense_Mutation_p.C685*	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	669					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGCTCTCCTGCGACCTTTGCC	0.627000													13	40					3.27435e-08	4.78159e-08	0.002450	1	0
CSN2	1447	broad.mit.edu	37	4	70825785	70825785	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:70825785G>T	ENST00000353151.3	-	2	75	c.64C>A	c.(64-66)Ctt>Att	p.L22I		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	22					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CTGCTTGAAAGGCTTTCTATG	0.318000													6	40					1.06961e-07	1.53757e-07	0.003080	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6530817	6530818	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:6530817_6530818delGC	ENST00000377748.1	-	15	2247_2248	c.1750_1751delGC	c.(1750-1752)cfs	p.A584fs	PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.A584fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.A507fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.A507fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.A507fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.A507fs|PLEKHG5_ENST00000400915.3_Frame_Shift_Del_p.A563fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.A576fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.A507fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.A544fs|PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.A586fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.A507fs	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	563	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCTCCTTGGCGCGCGGCTCC	0.668													6	4	---	---	---	---					
RP6-206I17.1	0	broad.mit.edu	37	1	143720252	143720254	+	RNA	DEL	ATC	ATC	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr1:143720252_143720254delATC	ENST00000445753.1	-	0	210				RP6-206I17.3_ENST00000442423.1_lincRNA																							ATCAGTGTAGATCATCAAAAAAA	0.404													3	3	---	---	---	---					
HEATR5B	54497	broad.mit.edu	37	2	37247938	37247938	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:37247938delC	ENST00000233099.5	-	25	3990	c.3895delG	c.(3895-3897)cafs	p.A1299fs	HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.A1299fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1299							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCCATGAATGCCATGCGAATG	0.413													21	20	---	---	---	---					
SH3RF3	344558	broad.mit.edu	37	2	109988056	109988056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr2:109988056delG	ENST00000309415.6	+	3	864	c.864delG	c.(862-864)acfs	p.T288fs		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	288	SH3 2.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGATTCTGACGGTGCTCAGGA	0.562													10	17	---	---	---	---					
MGLL	11343	broad.mit.edu	37	3	127540640	127540640	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:127540640delT	ENST00000434178.2	-	2	918	c.22delA	c.(22-24)ggfs	p.R9fs	MGLL_ENST00000265052.5_Frame_Shift_Del_p.R19fs|MGLL_ENST00000453507.2_Frame_Shift_Del_p.R19fs|MGLL_ENST00000398104.1_Frame_Shift_Del_p.R9fs			Q99685	MGLL_HUMAN	monoglyceride lipase	9					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GGGGTCCGCCTGGGGGAACTT	0.522													28	99	---	---	---	---					
AGTR1	185	broad.mit.edu	37	3	148459658	148459658	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr3:148459658delT	ENST00000542281.1	+	4	1282	c.836delT	c.(835-837)atfs	p.I279fs	AGTR1_ENST00000497524.1_Frame_Shift_Del_p.I279fs|AGTR1_ENST00000418473.2_Frame_Shift_Del_p.I279fs|AGTR1_ENST00000475347.1_Frame_Shift_Del_p.I279fs|AGTR1_ENST00000404754.2_Frame_Shift_Del_p.I279fs|AGTR1_ENST00000461609.1_Frame_Shift_Del_p.I279fs|AGTR1_ENST00000402260.1_Frame_Shift_Del_p.I279fs|AGTR1_ENST00000349243.3_Frame_Shift_Del_p.I279fs|AGTR1_ENST00000474935.1_Frame_Shift_Del_p.I279fs	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	279					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATTGCAGATATTGTGGACACG	0.358													13	70	---	---	---	---					
CAMK2D	817	broad.mit.edu	37	4	114438768	114438768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr4:114438768delT	ENST00000454265.2	-	9	1505	c.647delA	c.(646-648)gtfs	p.D216fs	CAMK2D_ENST00000394526.2_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000394524.3_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000505990.1_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000342666.5_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000429180.1_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000511664.1_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000508738.1_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000418639.2_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000379773.2_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000296402.5_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000515496.1_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000394522.3_Frame_Shift_Del_p.D216fs|CAMK2D_ENST00000514328.1_Frame_Shift_Del_p.D216fs			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	216	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTGGTCTTCATCCCAGAAGGG	0.363													14	98	---	---	---	---					
COL26A1	136227	broad.mit.edu	37	7	101187316	101187316	+	RNA	DEL	C	C	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr7:101187316delC	ENST00000313669.7	+	0	834				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		GGCCTGCAGGCCCCCCCGGGT	0.652													2	4	---	---	---	---					
KCNQ3	3786	broad.mit.edu	37	8	133141659	133141659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr8:133141659delC	ENST00000388996.4	-	15	2889	c.2469delG	c.(2467-2469)ggfs	p.G823fs	KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.G811fs|KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.G703fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	823					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCCAGCTCGACCCCCCATTGG	0.612													11	31	---	---	---	---					
PHYHIPL	84457	broad.mit.edu	37	10	60998461	60998461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr10:60998461delG	ENST00000373880.4	+	4	856	c.592delG	c.(592-594)ttfs	p.V198fs	PHYHIPL_ENST00000373878.3_Frame_Shift_Del_p.V172fs|PHYHIPL_ENST00000472199.1_3'UTR	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	198										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TTTTGACTATGTTCGGTAAGA	0.328													15	44	---	---	---	---					
HBE1	3046	broad.mit.edu	37	11	5290781	5290781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:5290781delC	ENST00000380237.1	-	4	562	c.218delG	c.(217-219)gafs	p.G73fs	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Frame_Shift_Del_p.G73fs			P02100	HBE_HUMAN	hemoglobin, epsilon 1	73					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATAGCATCTCCAAAGGAAGT	0.507													8	114	---	---	---	---					
FGF3	2248	broad.mit.edu	37	11	69625282	69625282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr11:69625282delG	ENST00000334134.2	-	3	601	c.511delC	c.(511-513)gcfs	p.R171fs		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	171					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TTCTGTGTGCGGCGGGTCTTG	0.682													9	23	---	---	---	---					
IFLTD1	160492	broad.mit.edu	37	12	25699310	25699310	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr12:25699310delG	ENST00000539744.1	-	4	614	c.135delC	c.(133-135)tcfs	p.S47fs	IFLTD1_ENST00000445693.1_Frame_Shift_Del_p.S81fs|IFLTD1_ENST00000282881.6_Frame_Shift_Del_p.S144fs|IFLTD1_ENST00000458174.2_Frame_Shift_Del_p.S165fs|IFLTD1_ENST00000413632.2_Frame_Shift_Del_p.S165fs	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	144						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					ATATGTACCTGGAGGTAAATT	0.323													13	45	---	---	---	---					
IGHV3-72	28410	broad.mit.edu	37	14	107199123	107199123	+	RNA	DEL	C	C	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr14:107199123delC	ENST00000433072.2	-	0	245																											GCCTGGCGGACCCAGTCCATG	0.582													8	75	---	---	---	---					
DONSON	29980	broad.mit.edu	37	21	34958426	34958426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chr21:34958426delA	ENST00000453626.1	-	3	468	c.464delT	c.(463-465)ggfs	p.V155fs	DONSON_ENST00000303113.6_Frame_Shift_Del_p.V155fs|AP000304.12_ENST00000429238.1_Frame_Shift_Del_p.C116fs|DONSON_ENST00000303071.5_Frame_Shift_Del_p.V155fs|DONSON_ENST00000432378.1_Frame_Shift_Del_p.V155fs			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	155					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						ACTCCAGTCCACAGGTAACTC	0.418											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	16	36	---	---	---	---					
CHIC1	53344	broad.mit.edu	37	X	72783215	72783217	+	In_Frame_Del	DEL	CGT	CGT	-	rs149897064		TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:72783215_72783217delCGT	ENST00000373504.6	+	1	180_182	c.95_97delCGT	c.(94-99)ccg>c	p.PS32del	CHIC1_ENST00000373502.5_In_Frame_Del_p.PS32del			Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	32	Ser-rich.					cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					tcgtcgtcgccgtcgtcgtcgtc	0.601													2	4	---	---	---	---					
IL13RA2	3598	broad.mit.edu	37	X	114239843	114239844	+	Frame_Shift_Ins	INS	-	-	G			TCGA-91-6848-01A-11D-1945-08	TCGA-91-6848-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e1dd9cd-6906-4526-9252-3cc0d420886e	e5ecb940-5256-4a9f-a39e-614729798d8b	g.chrX:114239843_114239844insG	ENST00000371936.1	-	10	1281_1282	c.1032_1033insC	c.(1030-1035)ttggctfs	p.LA344fs	IL13RA2_ENST00000243213.1_Frame_Shift_Ins_p.LA344fs			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	344						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AATGGTAGCCAGAAACGTAGCA	0.361													15	23	---	---	---	---