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
NLRP12	91662	broad.mit.edu	37	19	54301508	54301508	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:54301508G>A	ENST00000324134.6	-	8	3084	c.2916C>T	c.(2914-2916)ctC>ctT	p.L972L	NLRP12_ENST00000535162.1_Silent_p.L972L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391775.3_Intron|NLRP12_ENST00000391773.1_Silent_p.L973L|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Silent_p.L973L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	972					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACAGTTTCTGGAGTCTGCAGG	0.557000													14	83					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155154467	155154467	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:155154467G>A	ENST00000368382.1	+	9	1796	c.1659G>A	c.(1657-1659)ctG>ctA	p.L553L	TRIM46_ENST00000334634.4_Silent_p.L576L|TRIM46_ENST00000543729.1_3'UTR|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368383.3_Silent_p.L576L|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Silent_p.L450L	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	576	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			gctgcCACCTGAGTGTGGATG	0.672000													12	29					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51787490	51787490	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:51787490C>T	ENST00000262676.5	-	2	200	c.40G>A	c.(40-42)Gag>Aag	p.E14K	TTC39A_ENST00000413473.2_Missense_Mutation_p.E21K|TTC39A_ENST00000371750.5_Missense_Mutation_p.E18K|TTC39A_ENST00000371747.3_Missense_Mutation_p.E17K|TTC39A_ENST00000262675.7_5'UTR|TTC39A_ENST00000451380.1_Missense_Mutation_p.E17K|TTC39A_ENST00000447632.2_Missense_Mutation_p.E18K			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	18							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AGGCTGCTCTCAGGAGTCCTG	0.622000													8	31					0	0	1	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004834	153004834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:153004834C>T	ENST00000307098.4	+	2	78	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	SPRR1B_ENST00000392661.3_Nonsense_Mutation_p.Q5*	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	5	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTTCCCAGCAGCAGAAGCA	0.527000													13	120					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906712	129906712	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:129906712G>C	ENST00000368654.3	-	13	3767	c.3392C>G	c.(3391-3393)tCt>tGt	p.S1131C	MKI67_ENST00000368653.3_Missense_Mutation_p.S771C	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1131	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTGGTGGAGATTTGCAGGC	0.468000													65	251					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46318956	46318956	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:46318956G>C	ENST00000359930.4	-	5	1502	c.651C>G	c.(649-651)ctC>ctG	p.L217L	SULF2_ENST00000484875.1_Silent_p.L217L|SULF2_ENST00000467815.1_Silent_p.L217L|SULF2_ENST00000361612.4_Silent_p.L217L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	217					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGATGACCATGAGGACTGGCC	0.577000													7	88					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39284123	39284123	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:39284123G>A	ENST00000373229.5	-	5	770	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L	KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000437525.2_Silent_p.L253L|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	253						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGGGGGCCCAGTGGGAGGATC	0.652000													9	6					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53716438	53716438	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:53716438C>T	ENST00000306052.6	-	17	2701	c.2600G>A	c.(2599-2601)aGg>aAg	p.R867K	LRP8_ENST00000371454.2_Missense_Mutation_p.R867K|LRP8_ENST00000465675.1_Missense_Mutation_p.R420K|LRP8_ENST00000354412.3_Missense_Mutation_p.R663K|LRP8_ENST00000347547.2_Missense_Mutation_p.R697K	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	867					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGTTGTTTTCCTGTAGACTGG	0.458000													24	62					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71021021	71021021	+	Silent	SNP	C	C	T	rs148312270		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:71021021C>T	ENST00000354624.5	+	16	2476	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	HKDC1_ENST00000395086.2_Silent_p.F781F	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	781					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGGCATCTTCGAAACCAAGT	0.562000													10	30					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225670240	225670240	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:225670240G>A	ENST00000409592.3	-	35	3916	c.3803C>T	c.(3802-3804)tCa>tTa	p.S1268L	DOCK10_ENST00000258390.7_Missense_Mutation_p.S1274L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1274							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGCTATTGATGAAAATGCTGT	0.418000													9	35					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109381580	109381580	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:109381580A>T	ENST00000283195.6	+	20	4711	c.4585A>T	c.(4585-4587)Agt>Tgt	p.S1529C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1529					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTCAGAGACAAGTAAAACTCT	0.403000													32	108					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115846	8115846	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:8115846A>T	ENST00000379328.3	+	6	1763	c.1195A>T	c.(1195-1197)Aga>Tga	p.R399*	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Nonsense_Mutation_p.R398*	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	398					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGCCCTCTCCAGACACATGTC	0.557000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						44	119					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56434943	56434943	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:56434943G>A	ENST00000584437.1	-	8	4149	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	RNF43_ENST00000577716.1_Missense_Mutation_p.R732C|RNF43_ENST00000583753.1_Missense_Mutation_p.R691C|RNF43_ENST00000581868.1_Missense_Mutation_p.R605C|RNF43_ENST00000500597.2_Missense_Mutation_p.R691C|RNF43_ENST00000577625.1_Missense_Mutation_p.R605C|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.R732C			Q68DV7	RNF43_HUMAN	ring finger protein 43	732	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGGCTGGCGAGGAGTCAGG	0.602000													8	155					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24974952	24974952	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:24974952C>G	ENST00000405141.1	+	21	4519	c.3808C>G	c.(3808-3810)Caa>Gaa	p.Q1270E	NCOA1_ENST00000395856.3_Missense_Mutation_p.Q1270E|NCOA1_ENST00000406961.1_Missense_Mutation_p.Q1270E|NCOA1_ENST00000288599.5_Missense_Mutation_p.Q1270E|NCOA1_ENST00000348332.3_Missense_Mutation_p.Q1270E|NCOA1_ENST00000407230.1_Missense_Mutation_p.Q1119E|NCOA1_ENST00000538539.1_Missense_Mutation_p.Q1270E			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1270									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTCCAGCAAACTCCACC	0.532000			T	PAX3	alveolar rhadomyosarcoma								17	78					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236715888	236715888	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:236715888G>C	ENST00000409538.1	+	9	2254	c.1758G>C	c.(1756-1758)cgG>cgC	p.R586R	AGAP1_ENST00000409457.1_Silent_p.R321R|AGAP1_ENST00000304032.7_Silent_p.R321R|AGAP1_ENST00000336665.5_Silent_p.R321R|AGAP1_ENST00000428334.2_Silent_p.R160R			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	321	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCAGTCTCGGAAAGGGAGCG	0.547000													18	111					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3778085	3778085	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:3778085G>C	ENST00000262367.5	-	31	7772	c.6963C>G	c.(6961-6963)ctC>ctG	p.L2321L	CREBBP_ENST00000382070.3_Silent_p.L2283L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2321					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGTCCTGAGAGCATGTGTT	0.637000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						42	66					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60913346	60913346	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:60913346G>A	ENST00000252999.3	-	13	1764	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	566	Laminin EGF-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCCCCCTCGAAGCCCACTC	0.662000													5	19					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73927248	73927248	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:73927248G>A	ENST00000476977.1	+	3	1903	c.212G>A	c.(211-213)aGa>aAa	p.R71K	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R71K|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R71K|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.R71K			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	71						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGAAGGGGAGAATGTTCCTG	0.632000													10	114					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107205616	107205616	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:107205616G>C	ENST00000282251.5	-	16	2457	c.2430C>G	c.(2428-2430)atC>atG	p.I810M		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	810							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CAGACTTTCTGATATCTTTTG	0.338000													13	38					0	0	1	0	0
CBX5	23468	broad.mit.edu	37	12	54635661	54635661	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:54635661G>A	ENST00000209875.4	-	5	590	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	CBX5_ENST00000550411.1_Missense_Mutation_p.L152F|CBX5_ENST00000439541.2_Missense_Mutation_p.L152F	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	152	Chromo 2; shadow subtype.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TCTTTTGCAAGAACCAGGTCA	0.398000													7	67					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44955193	44955193	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:44955193G>A	ENST00000296125.4	+	14	2099	c.2031G>A	c.(2029-2031)caG>caA	p.Q677Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	677					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTAATGCTCAGAAGATTGTTC	0.393000											OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	100					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349596	89349596	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:89349596G>T	ENST00000301030.4	-	9	3814	c.3354C>A	c.(3352-3354)atC>atA	p.I1118I	ANKRD11_ENST00000378330.2_Silent_p.I1118I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1118	Lys-rich.					nucleus		p.I1118I(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CATCTGTGAAGATGTCTGCGA	0.517000													34	173					2.80507e-11	3.17497e-11	1	1	0
C9orf24	84688	broad.mit.edu	37	9	34385780	34385780	+	Splice_Site	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:34385780C>G	ENST00000297623.2	-	2	334		c.e2-1			NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GAGTCAGACCCTGGGCAAGGG	0.562000													15	199					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6626627	6626627	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:6626627C>T	ENST00000315579.5	+	11	2081	c.1282C>T	c.(1282-1284)Ctg>Ttg	p.L428L	NCAPD2_ENST00000545962.1_Silent_p.L383L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	428	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CATCCAGCTGCTGGCCAGTTT	0.473000													22	100					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359593	72359593	+	Silent	SNP	G	G	A	rs146777162		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:72359593G>A	ENST00000001146.2	-	6	1505	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	CYP26B1_ENST00000546307.1_Silent_p.F359F|CYP26B1_ENST00000412253.1_Silent_p.F243F	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	434					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						CACCGCCACCGAACGGGAGGT	0.642000													29	48					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6646949	6646949	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:6646949C>T	ENST00000299441.3	-	18	7152	c.6741G>A	c.(6739-6741)ctG>ctA	p.L2247L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2247	Cadherin 21.				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)		CTGTGGCCATCAGCACCAACC	0.597000													9	56					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189502	167189502	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:167189502G>A	ENST00000476257.1	-	3	419	c.121C>T	c.(121-123)Cat>Tat	p.H41Y	SERPINI2_ENST00000461846.1_Missense_Mutation_p.H41Y|SERPINI2_ENST00000471111.1_Missense_Mutation_p.H41Y|SERPINI2_ENST00000264677.4_Missense_Mutation_p.H41Y|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	41					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.H41Y(1)|p.H41N(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTGTCCTTATGAGATAAGGAA	0.393000													12	216					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24726227	24726227	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:24726227G>A	ENST00000314328.9	+	8	2509	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.E742K|SPECC1L_ENST00000437398.1_Missense_Mutation_p.E742K|SPECC1L_ENST00000541492.1_Missense_Mutation_p.E742K	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	742					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AATATAGGAAGAATCTGCGGA	0.343000													37	115					0	0	1	0	0
PON3	5446	broad.mit.edu	37	7	94996709	94996709	+	Silent	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:94996709T>A	ENST00000265627.5	-	5	469	c.459A>T	c.(457-459)gtA>gtT	p.V153V	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.V153V	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTTCAGGTATACCAGAGAAC	0.358000													34	56					0	0	1	0	0
IPP	3652	broad.mit.edu	37	1	46182672	46182672	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:46182672C>T	ENST00000396478.3	-	7	1306	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	402						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTCCCTATCTCAGCTCCAACC	0.373000													18	71					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950841	43950841	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:43950841C>G	ENST00000262726.7	-	27	3809	c.3556G>C	c.(3556-3558)Gag>Cag	p.E1186Q	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.E1034Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1186	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCAAAATTCTCAAACTCCTGG	0.532000													16	99					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57677637	57677637	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:57677637C>T	ENST00000402412.1	-	13	1531	c.1141G>A	c.(1141-1143)Ggc>Agc	p.G381S	R3HDM2_ENST00000393811.2_Missense_Mutation_p.G94S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.G94S|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000347140.3_Missense_Mutation_p.G367S|R3HDM2_ENST00000441731.2_Missense_Mutation_p.G28S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.G367S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.G367S			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	367						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCACTGCCGCCTTTACTGCTG	0.527000													54	257					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95668715	95668715	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:95668715C>G	ENST00000324972.6	+	14	1735	c.1542C>G	c.(1540-1542)gtC>gtG	p.V514V	DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000359388.4_Silent_p.V477V|DYNC1I1_ENST00000437599.1_Silent_p.V494V|DYNC1I1_ENST00000537881.1_Silent_p.V477V|DYNC1I1_ENST00000457059.1_Silent_p.V497V|DYNC1I1_ENST00000447467.2_Silent_p.V497V	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	514					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACTGGACTGTCAAACTGTGGA	0.448000													25	71					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849415	98849415	+	RNA	SNP	C	C	T	rs11837941	by1000genomes	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:98849415C>T	ENST00000554295.1	-	0	1508					NR_033801.1																						CATAGGATGCCGTGTCACAGA	0.527000													3	22					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	599442	599442	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:599442G>A	ENST00000219611.2	+	6	2176	c.1813G>A	c.(1813-1815)Gat>Aat	p.D605N	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GCTGCCCTGTGATGAGGCCGG	0.697000													5	15					0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83724132	83724132	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:83724132G>C	ENST00000297977.5	-	3	710	c.599C>G	c.(598-600)tCt>tGt	p.S200C	HDX_ENST00000506585.2_Missense_Mutation_p.S142C|HDX_ENST00000373177.2_Missense_Mutation_p.S200C	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTGTACTGAAGAGTTTCCATA	0.388000													13	64					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26536747	26536747	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:26536747G>C	ENST00000333478.6	-	5	1142	c.560C>G	c.(559-561)tCt>tGt	p.S187C	GPR113_ENST00000421160.2_Missense_Mutation_p.S317C|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.S386C|GPR113_ENST00000541401.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	386					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGCACTGAGAGCCTGACTC	0.597000													20	93					0	0	1	0	0
PHB2	11331	broad.mit.edu	37	12	7079375	7079375	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:7079375C>T	ENST00000535923.1	-	2	477	c.196G>A	c.(196-198)Gag>Aag	p.E66K	PHB2_ENST00000546111.1_Missense_Mutation_p.E66K|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000542912.1_Missense_Mutation_p.E66K|PHB2_ENST00000399433.2_Missense_Mutation_p.E66K|PHB2_ENST00000440277.1_Missense_Mutation_p.E66K	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	66					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TGAAGGCCCTCGGCCAGGATA	0.607000													24	218					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150689612	150689612	+	Splice_Site	SNP	A	A	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:150689612A>C	ENST00000368993.2	-	3	284		c.e3+1		HORMAD1_ENST00000368995.4_Splice_Site|HORMAD1_ENST00000361824.2_Splice_Site|HORMAD1_ENST00000322343.7_Splice_Site|HORMAD1_ENST00000476530.1_Splice_Site			Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATATTGTATTACCATCTAGAT	0.294000													35	51					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77755768	77755768	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:77755768C>T	ENST00000269399.5	+	4	498	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CBX2_ENST00000310942.4_Intron	NM_032647.3	NP_116036.1	Q14781	CBX2_HUMAN	chromobox homolog 2	0					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCTCAGCTTCTGCTGCCAGG	0.652000													53	56					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162740292	162740292	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:162740292G>A	ENST00000367922.2	+	13	1932	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	DDR2_ENST00000367921.3_Silent_p.E498E	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	498					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTCCAGGGGAGGAGGAGTCAG	0.547000													15	60					0	0	1	0	0
SPR	6697	broad.mit.edu	37	2	73118658	73118658	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:73118658G>C	ENST00000234454.5	+	3	851	c.778G>C	c.(778-780)Gac>Cac	p.D260H	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	260					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						GGACTTCTATGACAAATAAGC	0.532000													9	48					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21156688	21156688	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:21156688G>T	ENST00000261383.3	-	3	261	c.262C>A	c.(262-264)Cgc>Agc	p.R88S	DNAH3_ENST00000415178.1_Missense_Mutation_p.R88S|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	88	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATGACGTGCGTTGCATCAAG	0.527000													11	67					2.80697e-09	3.1088e-09	1	1	0
GJA4	2701	broad.mit.edu	37	1	35260568	35260568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:35260568C>T	ENST00000342280.4	+	2	842	c.754C>T	c.(754-756)Cag>Tag	p.Q252*		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	252					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCCCCGACCCAGGGCACCTC	0.652000													6	57					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100617624	100617624	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:100617624C>G	ENST00000308731.7	-	6	608	c.445G>C	c.(445-447)Gat>Cat	p.D149H	BTK_ENST00000372880.1_Missense_Mutation_p.D149H	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	149					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TACTGCCCATCGATCCAGAAG	0.438000									Agammaglobulinemia, X-linked				20	92					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39648436	39648436	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:39648436G>C	ENST00000216832.4	+	7	707	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	PNN_ENST00000553331.1_3'UTR|PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	214	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		ACAGAAAGTTGAGCTTGCGCA	0.418000													58	244					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9792953	9792953	+	Silent	SNP	C	C	G	rs151332857		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:9792953C>G	ENST00000262441.5	+	13	2106	c.1593C>G	c.(1591-1593)tcC>tcG	p.S531S	GLP2R_ENST00000574745.1_Silent_p.S351S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	531					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GCAGCCTGTCCGAGTGCAGTG	0.637000													4	41					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37678004	37678004	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:37678004G>C	ENST00000532828.2	-	5	686	c.435C>G	c.(433-435)ttC>ttG	p.F145L	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.F90L|ZNF585B_ENST00000527838.1_Missense_Mutation_p.F145L|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTACCTTGAACTGTGACT	0.383000													11	171					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255089	51255089	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:51255089G>A	ENST00000404971.1	-	2	1662	c.323C>T	c.(322-324)cCg>cTg	p.P108L	NRXN1_ENST00000405581.1_Missense_Mutation_p.P108L|NRXN1_ENST00000402717.3_Missense_Mutation_p.P108L|NRXN1_ENST00000406316.2_Missense_Mutation_p.P108L|NRXN1_ENST00000401669.2_Missense_Mutation_p.P108L|NRXN1_ENST00000405472.3_Missense_Mutation_p.P108L|NRXN1_ENST00000406859.3_Missense_Mutation_p.P108L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	108	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTCGTTAACCGGCGTGTCGGC	0.657000													6	32					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151237983	151237983	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:151237983C>T	ENST00000368884.3	+	6	632	c.552C>T	c.(550-552)atC>atT	p.I184I	PSMD4_ENST00000368881.4_Silent_p.I184I	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	184	VWFA.				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|DNA repair|G1/S transition of mitotic cell cycle|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGCTCTCATCAGTTCTCCGA	0.517000													13	113					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110456949	110456949	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:110456949T>A	ENST00000378402.5	+	38	4955	c.4851T>A	c.(4849-4851)tgT>tgA	p.C1617*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1617	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATTACATGTCATATTGACC	0.373000										HNSCC(38;0.096)			46	219					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143104708	143104708	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:143104708T>A	ENST00000275815.3	-	2	232	c.146A>T	c.(145-147)gAt>gTt	p.D49V		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	49						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACTTACCCCATCTTTTGGGGG	0.542000													60	291					0	0	1	0	0
LBX2	85474	broad.mit.edu	37	2	74725193	74725193	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:74725193G>A	ENST00000460508.3	-	2	902	c.446C>T	c.(445-447)tCg>tTg	p.S149L	LBX2_ENST00000377566.4_Missense_Mutation_p.S153L|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000550249.1_5'UTR	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	153						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						CGCGCGTAGCGAGGCGACGTC	0.692000													16	89					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51930943	51930943	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:51930943C>G	ENST00000371733.3	-	6	461	c.365G>C	c.(364-366)tGg>tCg	p.W122S	EPS15_ENST00000371730.2_Missense_Mutation_p.W122S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	122					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTTACAGCCCATGGGAGCTC	0.393000			T	MLL	ALL								24	60					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1055121	1055121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:1055121G>T	ENST00000263094.6	+	30	4207	c.3976G>T	c.(3976-3978)Gaa>Taa	p.E1326*	ABCA7_ENST00000435683.2_Nonsense_Mutation_p.E1188*|ABCA7_ENST00000433129.1_Nonsense_Mutation_p.E1326*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1326					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		AGTTCCTGCTGAAGTGGCCAA	0.647000													13	44					3.45872e-05	3.6021e-05	1	1	0
GFOD2	81577	broad.mit.edu	37	16	67709801	67709801	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:67709801C>G	ENST00000268797.7	-	3	760	c.415G>C	c.(415-417)Gaa>Caa	p.E139Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	139						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		ACATAGTGTTCCGAAATCAGC	0.592000													18	90					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714199	81714199	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:81714199C>T	ENST00000356860.3	-	7	882	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E182K|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.E182K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	182						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CAGTTGAGTTCATTTAACACA	0.328000													7	53					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103590134	103590134	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:103590134C>G	ENST00000226578.4	-	10	1402	c.1303G>C	c.(1303-1305)Gaa>Caa	p.E435Q	MANBA_ENST00000505239.1_Missense_Mutation_p.E378Q	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	435					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TAGGCAACTTCTGCTGTCACT	0.368000													10	13					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54921461	54921461	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:54921461C>G	ENST00000284061.3	+	3	726	c.546C>G	c.(544-546)ttC>ttG	p.F182L	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	182					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGGAGAATTCAAAAACCTAA	0.318000													6	33					0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145153865	145153865	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:145153865G>A	ENST00000398712.2	-	8	1516	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	360					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGGGCATTGATGAAGGTGC	0.612000													12	30					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287758	46287758	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:46287758T>C	ENST00000378966.3	+	2	906	c.490T>C	c.(490-492)Tgg>Cgg	p.W164R	SPERT_ENST00000310521.1_Missense_Mutation_p.W200R			Q8NA61	SPERT_HUMAN	spermatid associated	200						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACAGGTCTTCTGGGAGGAGCA	0.622000													56	39					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97846806	97846806	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:97846806C>T	ENST00000447648.2	-	26	3693	c.3394G>A	c.(3394-3396)Gac>Aac	p.D1132N	TECPR1_ENST00000379795.3_Missense_Mutation_p.D1134N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1132						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGATATGGTCCCAGCCTCCC	0.687000													3	15					0	0	1	0	0
MXI1	4601	broad.mit.edu	37	10	112039780	112039780	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:112039780G>C	ENST00000332674.5	+	5	865	c.661G>C	c.(661-663)Gaa>Caa	p.E221Q	MXI1_ENST00000369612.1_Missense_Mutation_p.E118Q|MXI1_ENST00000393134.1_Missense_Mutation_p.E144Q|MXI1_ENST00000361248.4_Missense_Mutation_p.E108Q|MXI1_ENST00000239007.7_Missense_Mutation_p.E154Q|MXI1_ENST00000485566.1_3'UTR	NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	154					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TCAGGAGATGGAACGAATACG	0.448000													12	59					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216172363	216172363	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:216172363G>T	ENST00000366943.2	-	34	6909	c.6523C>A	c.(6523-6525)Cgc>Agc	p.R2175S	USH2A_ENST00000307340.3_Missense_Mutation_p.R2175S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2175	Fibronectin type-III 8.				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)		AATACATAGCGTTCCAGAATC	0.313000										HNSCC(13;0.011)			13	65					3.27435e-08	3.57644e-08	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21123415	21123415	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:21123415A>C	ENST00000261383.3	-	13	1818	c.1819T>G	c.(1819-1821)Tta>Gta	p.L607V	DNAH3_ENST00000415178.1_Missense_Mutation_p.L607V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	607	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGACATTTAAATATCTTCCA	0.343000													6	14					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134916293	134916293	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:134916293C>A	ENST00000607359.1	+	14	2508	c.2508C>A	c.(2506-2508)gcC>gcA	p.A836A	GPR123_ENST00000392607.3_Silent_p.A116A|GPR123_ENST00000392606.2_Silent_p.A19A			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	116						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCAAGAAGGCCCCTCTGTGCC	0.632000													5	44					0.0215528	0.0217215	1	1	0
NUP35	129401	broad.mit.edu	37	2	183989210	183989210	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:183989210C>G	ENST00000295119.4	+	1	128	c.25C>G	c.(25-27)Cag>Gag	p.Q9E	NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000497330.1_3'UTR|NUP35_ENST00000409798.1_Intron	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	9					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						AGTGGAACCTCAGGGGCCCGC	0.532000													10	108					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56077693	56077693	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:56077693G>A	ENST00000394252.3	+	2	804	c.595G>A	c.(595-597)Ggg>Agg	p.G199R		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	199							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						GAAACACATTGGGGATGGCTG	0.552000													11	87					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739164	15739164	+	RNA	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:15739164C>T	ENST00000441682.2	+	0	1229							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGAGAGCCTGCGGTTGCATCC	0.617000													17	86					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715361	222715361	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:222715361G>C	ENST00000343410.6	-	3	1169	c.1111C>G	c.(1111-1113)Cag>Gag	p.Q371E		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	371					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TACTTGTTCTGAGCATTTCCA	0.522000													23	76					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189929315	189929315	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:189929315G>A	ENST00000374866.3	-	25	1958	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	562					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCCTGGACGTCCTGGATCC	0.537000													28	63					0	0	1	0	0
FAM127C	441518	broad.mit.edu	37	X	134156353	134156353	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:134156353T>G	ENST00000391440.1	-	1	206	c.137A>C	c.(136-138)cAg>cCg	p.Q46P		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	46										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					GGAGCTCGTCTGCACGATGAA	0.657000													40	81					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154940682	154940682	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:154940682G>A	ENST00000448116.2	-	5	1022	c.802C>T	c.(802-804)Ccg>Tcg	p.P268S	SHC1_ENST00000368453.4_Missense_Mutation_p.P158S|SHC1_ENST00000368445.5_Missense_Mutation_p.P268S|SHC1_ENST00000606391.1_Missense_Mutation_p.P69S|SHC1_ENST00000368450.1_Missense_Mutation_p.P158S|SHC1_ENST00000368449.4_Missense_Mutation_p.P39S	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	268	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAACTCACCGGATCCCCGCCG	0.537000													123	352					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16727921	16727921	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:16727921C>T	ENST00000380672.4	-	3	261	c.204G>A	c.(202-204)ttG>ttA	p.L68L	BNC2_ENST00000380666.2_Silent_p.L68L|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTCTTAAAGTCAAGtctcttg	0.473000													138	71					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216348687	216348687	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:216348687G>A	ENST00000366943.2	-	21	4920	c.4534C>T	c.(4534-4536)Ctg>Ttg	p.L1512L	USH2A_ENST00000366942.3_Silent_p.L1512L|USH2A_ENST00000307340.3_Silent_p.L1512L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1512					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)		GTGGTCATCAGAGCTGGTAGA	0.448000										HNSCC(13;0.011)			5	39					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67271225	67271225	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:67271225G>C	ENST00000258201.4	-	9	1157	c.910C>G	c.(910-912)Cag>Gag	p.Q304E	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	304	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCCATGCCCTGCTGCTCCAGT	0.667000													29	87					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40713347	40713347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:40713347C>A	ENST00000373198.3	-	30	4412	c.4177G>T	c.(4177-4179)Gag>Tag	p.E1393*	PTPRT_ENST00000356100.2_Nonsense_Mutation_p.E1380*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.E1370*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.E1371*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.E1374*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.E1381*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.E1361*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1371	Tyrosine-protein phosphatase 2.				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)				GTACGTCCCTCCCTCCCGTCA	0.612000													17	28					3.32936e-07	3.57958e-07	1	1	0
CNGA4	1262	broad.mit.edu	37	11	6265499	6265499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:6265499G>T	ENST00000379936.2	+	6	1703	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	530					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACCGCATTGAACGGCTGGA	0.572000													11	101					3.86212e-05	4.01411e-05	1	1	0
TSKS	60385	broad.mit.edu	37	19	50245187	50245187	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:50245187C>G	ENST00000246801.3	-	9	1534	c.1452G>C	c.(1450-1452)ctG>ctC	p.L484L	TSKS_ENST00000358830.3_Silent_p.L284L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	484							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGCAGGAGTCAGGCCCCTCT	0.592000													41	109					0	0	1	0	0
ID3	3399	broad.mit.edu	37	1	23885495	23885495	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:23885495G>A	ENST00000374561.5	-	2	683	c.316C>T	c.(316-318)Ccg>Tcg	p.P106S	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	106					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ACAAGTTCCGGAGTGAGCTCG	0.567000													8	49					0	0	1	0	0
MRPS35	60488	broad.mit.edu	37	12	27890541	27890541	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:27890541G>T	ENST00000081029.3	+	7	773	c.702_splice	c.e7+1	p.W234_splice	MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	234					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					ATGAGTCTTGGGTAAGTGTGT	0.343000													14	56					2.31682e-05	2.41531e-05	1	1	0
C12orf60	144608	broad.mit.edu	37	12	14976484	14976484	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:14976484G>C	ENST00000330828.2	+	2	819	c.615G>C	c.(613-615)aaG>aaC	p.K205N	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	205										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ATCCCACAAAGTCAGCAGCAG	0.393000													15	85					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256469	9256469	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:9256469G>A	ENST00000383440.2	+	8	3392	c.3135G>A	c.(3133-3135)aaG>aaA	p.K1045K	ANKRD12_ENST00000262126.3_Silent_p.K1068K|ANKRD12_ENST00000400020.3_Silent_p.K1045K	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1068						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTAAAGAAAAGAGGTTAGTGA	0.328000													31	166					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186289450	186289450	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:186289450G>C	ENST00000367478.3	-	46	6858	c.6562C>G	c.(6562-6564)Caa>Gaa	p.Q2188E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2188					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.Q2175*(1)|p.Q2188*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTACCTCCTTGAGAAGCAAGC	0.418000			T	NTRK1	papillary thyroid								5	28					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183905743	183905743	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:183905743G>C	ENST00000429586.2	+	6	726	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	ABCF3_ENST00000292808.5_Missense_Mutation_p.E175Q|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	181	ABC transporter 1.						ATP binding|ATPase activity	p.E181Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGCGAATTGAGAACTTTGA	0.463000													17	307					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765695	61765695	+	Silent	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:61765695A>T	ENST00000423902.2	+	31	6890	c.6411A>T	c.(6409-6411)gcA>gcT	p.A2137A	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2137					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACAGAGGGGCAGGTAATACAT	0.463000													8	30					0	0	1	0	0
OCIAD1	54940	broad.mit.edu	37	4	48853937	48853937	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:48853937C>T	ENST00000425583.2	+	7	767	c.492C>T	c.(490-492)ttC>ttT	p.F164F	OCIAD1_ENST00000506801.1_Silent_p.F110F|OCIAD1_ENST00000508293.1_Silent_p.F164F|OCIAD1_ENST00000264312.7_Silent_p.F164F|OCIAD1_ENST00000444354.2_Silent_p.F164F|OCIAD1_ENST00000513391.2_Silent_p.F164F|OCIAD1_ENST00000381473.3_Silent_p.F164F|OCIAD1_ENST00000396448.2_Silent_p.F164F|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000509122.1_Silent_p.F137F	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	164						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						CAATTCCATTCAGTTCTTCTA	0.378000													20	74					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154751611	154751611	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:154751611C>T	ENST00000404141.1	-	13	2621	c.2467G>A	c.(2467-2469)Gag>Aag	p.E823K	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.E823K			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	823	Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ATCAACAACTCTGCAGACACT	0.284000													8	111					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220727	67220727	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:67220727C>T	ENST00000314586.6	-	7	1459	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	407					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						GGCCCATGCTCCCGGCCCCAC	0.617000													24	123					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69033262	69033262	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:69033262G>C	ENST00000288368.4	+	30	3979	c.3702G>C	c.(3700-3702)caG>caC	p.Q1234H		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	1234					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						CTCTTGCTCAGAACATCAGGA	0.398000													16	59					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183100491	183100491	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:183100491G>C	ENST00000258341.4	+	20	3801	c.3544G>C	c.(3544-3546)Gag>Cag	p.E1182Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1182	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGGCAGAAGAGGCTCGAAA	0.443000													24	202					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964554	32964554	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:32964554G>T	ENST00000321639.5	+	10	2586	c.2258G>T	c.(2257-2259)gGc>gTc	p.G753V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	753						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGGGGAGCTGGCCCGCCGGGC	0.751000													17	14					2.48551e-13	2.84137e-13	1	1	0
SPIN1	10927	broad.mit.edu	37	9	91083442	91083442	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:91083442G>C	ENST00000375859.3	+	5	789	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	SPIN1_ENST00000541629.1_Missense_Mutation_p.E171Q|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	171					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CATTACCTATGAGAAAGACCC	0.413000													12	75					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112842	57112842	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:57112842G>C	ENST00000454682.1	-	3	2753	c.2472C>G	c.(2470-2472)ctC>ctG	p.L824L	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CAGGGGATGAGAGATTTCCAA	0.478000			T	BCL6	NHL								8	25					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172163133	172163133	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:172163133C>A	ENST00000241256.2	-	2	961	c.919G>T	c.(919-921)Gtg>Ttg	p.V307L		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	307					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.V307M(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACAAAGGACACGAGGTTGCAG	0.507000													46	222					1.56793e-16	1.8207e-16	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7032108	7032108	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:7032108C>A	ENST00000389658.3	-	16	2324	c.2231G>T	c.(2230-2232)tGc>tTc	p.C744F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	744	Laminin EGF-like 6.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGCCGTGGCATTCACAGGG	0.502000													8	67					0.00307968	0.00313756	1	1	0
CACNA2D4	93589	broad.mit.edu	37	12	1992053	1992053	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:1992053C>T	ENST00000382722.5	-	13	1827	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E425K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E489K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E425K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E489K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E374K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	489	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ATGTAGGCCTCTGTCCAGATG	0.587000													4	27					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090622	184090622	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:184090622C>T	ENST00000421442.2	-	6	624	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	THPO_ENST00000204615.7_Silent_p.L247L|THPO_ENST00000445696.2_Silent_p.L243L|EIF2B5_ENST00000444495.1_Intron			P40225	TPO_HUMAN	thrombopoietin	0					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTATCCTGTTCAGGTATCCGG	0.552000													19	236					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	26995588	26995588	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:26995588C>T	ENST00000215939.2	-	6	755	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	209	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TCACCAGGCTCTAGGAGGTAC	0.592000													13	72					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941633	22941633	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:22941633C>G	ENST00000397104.3	-	5	804	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	ZNF99_ENST00000596209.1_Missense_Mutation_p.E360Q					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTCATGTTTTCTA	0.368000													14	218					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36768500	36768500	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:36768500C>A	ENST00000399881.3	+	22	2421	c.2384C>A	c.(2383-2385)tCc>tAc	p.S795Y		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	795						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGCAATGCTCCATGTGTGCT	0.532000													24	88					2.41591e-17	2.8213e-17	1	1	0
CRNKL1	51340	broad.mit.edu	37	20	20023161	20023161	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:20023161C>A	ENST00000377340.2	-	9	1487		c.e9-1		CRNKL1_ENST00000536226.1_Splice_Site|CRNKL1_ENST00000377327.4_Splice_Site	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1						spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTGGATTCGCCTAGAAAGACA	0.408000													30	85					3.1745e-13	3.62498e-13	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5406941	5406941	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:5406941C>G	ENST00000341928.2	-	16	2524	c.2184G>C	c.(2182-2184)ctG>ctC	p.L728L	EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.L559L|EPB41L3_ENST00000540638.2_Silent_p.L547L|EPB41L3_ENST00000400111.3_Silent_p.L547L|EPB41L3_ENST00000342933.3_Silent_p.L728L|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	728	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GATGTTTCATCAGGTCATCTT	0.383000													15	129					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975110	31975110	+	RNA	SNP	C	C	T	rs41315832	by1000genomes	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:31975110C>T	ENST00000342991.6	+	0	1233					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GTGGCGCAGCCGAGCATGGAA	0.632000													4	31					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920347	58920347	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:58920347C>T	ENST00000528737.1	+	5	4024	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	FAM111A_ENST00000531147.1_Silent_p.T402T|FAM111A_ENST00000361723.3_Silent_p.T402T|FAM111A_ENST00000533703.1_Silent_p.T402T|FAM111A_ENST00000420244.1_Silent_p.T402T			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	402					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AGTGGGCAACCATAATTGGTC	0.378000													51	158					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666447	34666447	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:34666447A>G	ENST00000488417.1	+	3	1204	c.1084A>G	c.(1084-1086)Aag>Gag	p.K362E	C1orf94_ENST00000373374.3_Missense_Mutation_p.K172E	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	172							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAGAGCCAGAAGGACGCCTG	0.572000													36	97					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135555142	135555142	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:135555142C>G	ENST00000372146.4	+	2	2700	c.2136C>G	c.(2134-2136)ctC>ctG	p.L712L		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	712					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCCGCGGACTCTGTAACTTTT	0.438000													12	84					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43240475	43240475	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr21:43240475C>G	ENST00000422911.1	-	18	2388	c.2287G>C	c.(2287-2289)Gag>Cag	p.E763Q	PRDM15_ENST00000538201.1_Missense_Mutation_p.E726Q|PRDM15_ENST00000269844.3_Missense_Mutation_p.E1072Q|PRDM15_ENST00000398548.1_Missense_Mutation_p.E743Q|PRDM15_ENST00000447207.2_Missense_Mutation_p.E706Q			P57071	PRD15_HUMAN	PR domain containing 15	1072					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTGTGGCGCTCCAGGTTCCCG	0.647000													5	33					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252586	46252586	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:46252586G>C	ENST00000510861.1	-	10	1268	c.1095C>G	c.(1093-1095)aaC>aaG	p.N365K	GABRA2_ENST00000514090.1_Missense_Mutation_p.N365K|GABRA2_ENST00000507069.1_Missense_Mutation_p.N425K|GABRA2_ENST00000356504.1_Missense_Mutation_p.N365K|GABRA2_ENST00000540012.1_Missense_Mutation_p.N370K|GABRA2_ENST00000381620.4_Missense_Mutation_p.N365K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	365					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGCATAAGCGTTGTTCTGTA	0.403000													32	47					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082548	16082548	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:16082548C>T	ENST00000281043.3	+	2	659	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	121					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGCGGCTTCTCCGCCCGCGAG	0.751000			A		neuroblastoma								4	20					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155001760	155001760	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:155001760A>G	ENST00000368424.3	-	8	1349	c.1291T>C	c.(1291-1293)Tgg>Cgg	p.W431R	DCST2_ENST00000295536.5_Missense_Mutation_p.W431R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	431						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCAAGCACCCAGAAGACAGCA	0.572000													52	153					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060910	48060910	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:48060910C>T	ENST00000316364.5	+	18	2337	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	SEMA6D_ENST00000536845.2_Missense_Mutation_p.S633F|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S614F|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558816.1_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	633					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)		CCAAACACTTCTGATTTTACT	0.438000													18	72					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4804385	4804385	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:4804385G>A	ENST00000293780.4	-	7	712	c.702C>T	c.(700-702)ctC>ctT	p.L234L	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	234					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GGCGGATGATGAGCGAGTAGA	0.652000													23	143					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96805586	96805586	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:96805586C>A	ENST00000371270.3	-	6	1036	c.942G>T	c.(940-942)ctG>ctT	p.L314L	CYP2C8_ENST00000535898.1_Silent_p.L212L|CYP2C8_ENST00000539050.1_Silent_p.L228L	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	314					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)	CTGGGTGCTTCAGCAGGAGCA	0.448000													16	86					1.67942e-08	1.83826e-08	1	1	0
COL1A1	1277	broad.mit.edu	37	17	48263188	48263188	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:48263188G>A	ENST00000225964.5	-	50	4317	c.4199C>T	c.(4198-4200)gCc>gTc	p.A1400V		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1400	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GTTGCCCTCGGCGCGGATCTC	0.632000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						30	39					0	0	1	0	0
NKX2-4	644524	broad.mit.edu	37	20	21376831	21376831	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:21376831G>T	ENST00000351817.4	-	2	1411	c.783C>A	c.(781-783)ggC>ggA	p.G261G		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	261					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						gcgggcccaggccgcccTCCT	0.711000													11	1					0.00829132	0.00843046	1	1	0
RIPK1	8737	broad.mit.edu	37	6	3111152	3111152	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:3111152C>G	ENST00000259808.4	+	10	1990	c.1692C>G	c.(1690-1692)ttC>ttG	p.F564L	RIPK1_ENST00000541791.1_Missense_Mutation_p.F518L|RIPK1_ENST00000380409.2_Missense_Mutation_p.F564L			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	564	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ATACGAACTTCAAAGAAGAGC	0.423000													15	73					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47129630	47129630	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:47129630C>G	ENST00000409792.3	-	10	5292	c.5250G>C	c.(5248-5250)caG>caC	p.Q1750H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1750					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)		AGGTAAGTTTCTGCTCCAAAG	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma								11	106					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861179	67861179	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:67861179C>G	ENST00000388833.3	+	14	1907	c.1530C>G	c.(1528-1530)ctC>ctG	p.L510L	TSNAXIP1_ENST00000415766.3_Silent_p.L495L|TSNAXIP1_ENST00000561639.1_Silent_p.L564L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	510					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CCTTCCCTCTCAAGACAGAAG	0.567000													17	48					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56620909	56620909	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:56620909C>T	ENST00000336078.4	+	8	3804	c.3028C>T	c.(3028-3030)Cct>Tct	p.P1010S	ZNF532_ENST00000591808.1_Missense_Mutation_p.P1010S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P1010S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1010S|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1010S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATCTCCATCTCCTGTGAAAAA	0.428000													16	130					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769410	37769410	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:37769410T>C	ENST00000402918.1	-	3	2950	c.2165A>G	c.(2164-2166)gAc>gGc	p.D722G	ELFN2_ENST00000349653.3_Missense_Mutation_p.D722G|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	722						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCTCAGGCTGTCGGCACCCTC	0.667000													10	8					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76495162	76495162	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:76495162C>G	ENST00000389840.5	-	37	5755	c.5631G>C	c.(5629-5631)caG>caC	p.Q1877H	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.Q1886H|DNAH17-AS1_ENST00000598378.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGCTCCCGTCTGGGCCAGGC	0.612000													12	8					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52761088	52761088	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:52761088G>A	ENST00000257901.3	-	1	177	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	34	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCGGCGCTGATGCAGCAGC	0.672000													10	45					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79348038	79348038	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:79348038G>T	ENST00000233735.1	+	2	154	c.51G>T	c.(49-51)ctG>ctT	p.L17L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	17					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGATGTTTCTGTCTCAGAGCC	0.438000													15	18					3.41278e-10	3.82083e-10	1	1	0
NAALADL1	10004	broad.mit.edu	37	11	64821810	64821810	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:64821810A>C	ENST00000358658.3	-	6	931	c.904T>G	c.(904-906)Ttg>Gtg	p.L302V	NAALADL1_ENST00000340252.4_Missense_Mutation_p.L302V|NAALADL1_ENST00000355721.3_Missense_Mutation_p.L261V|NAALADL1_ENST00000356632.3_Intron|NAALADL1_ENST00000339885.2_Missense_Mutation_p.L302V|NAALADL1_ENST00000355369.2_Missense_Mutation_p.L302V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	302	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCTGGGGCCAAAGTTCCGTTG	0.632000													8	59					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675795	102675795	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:102675795C>A	ENST00000335263.5	+	3	1368	c.1288C>A	c.(1288-1290)Cca>Aca	p.P430T	WDR20_ENST00000545563.1_Missense_Mutation_p.P257T|WDR20_ENST00000454394.2_Missense_Mutation_p.P461T|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000424963.2_Missense_Mutation_p.P306T|WDR20_ENST00000499851.2_Missense_Mutation_p.P173T|WDR20_ENST00000342702.3_Missense_Mutation_p.P430T|WDR20_ENST00000556807.1_Missense_Mutation_p.P369T|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Missense_Mutation_p.P369T	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	430										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GCCTCCTCTGCCACGGTCCAA	0.537000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	108					5.59293e-11	6.31657e-11	1	1	0
ZKSCAN5	23660	broad.mit.edu	37	7	99110112	99110112	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:99110112G>C	ENST00000394170.2	+	3	702	c.451G>C	c.(451-453)Gca>Cca	p.A151P	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.A151P|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.A151P	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	151					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A151S(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCGGAAGATGGCAACACCTGG	0.547000													45	76					0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48080771	48080771	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr21:48080771C>G	ENST00000397637.1	+	8	1811	c.857C>G	c.(856-858)tCa>tGa	p.S286*	PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000397638.2_Nonsense_Mutation_p.S286*|PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000355680.3_Nonsense_Mutation_p.S286*			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	286					developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	p.S286*(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GAGTTTTTTTCAAAGCCCAAG	0.418000													14	82					0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145507705	145507705	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:145507705A>T	ENST00000330165.7	+	1	108	c.39A>T	c.(37-39)gaA>gaT	p.E13D	RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.E13D|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000598103.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	13					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGGGGCGAAGATTTCGCCA	0.567000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	29					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458647	25458647	+	RNA	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:25458647C>A	ENST00000424208.1	+	0	2604				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCCAATGGCCCTGGGCCAGTG	0.572000													5	4					0.184627	0.184807	1	1	0
ZNF18	7566	broad.mit.edu	37	17	11895946	11895946	+	Silent	SNP	G	G	A	rs145411425	byFrequency	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:11895946G>A	ENST00000322748.3	-	4	805	c.201C>T	c.(199-201)ttC>ttT	p.F67F	ZNF18_ENST00000580613.1_Silent_p.F16F|ZNF18_ENST00000580306.1_Silent_p.F67F|ZNF18_ENST00000454073.3_Silent_p.F67F	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	67	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTAGCCACTGGAAACAGAGCT	0.547000													12	84					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28356962	28356962	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:28356962C>T	ENST00000261609.7	-	93	14560	c.14452G>A	c.(14452-14454)Gat>Aat	p.D4818N		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4818					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAGTCGACATCCTCGTTATCT	0.522000													7	41					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237475	33237475	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:33237475C>T	ENST00000401073.2	+	6	2765	c.2695C>T	c.(2695-2697)Ccc>Tcc	p.P899S	KIAA1522_ENST00000373480.1_Missense_Mutation_p.P840S|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P851S	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	840	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGAGGGGCTCCCACCCCAGC	0.731000													7	25					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116283510	116283510	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:116283510G>T	ENST00000410059.1	+	5	883	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	DPP10_ENST00000393147.2_Missense_Mutation_p.D139Y|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.D128Y|DPP10_ENST00000409163.1_Missense_Mutation_p.D85Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	135					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.D128Y(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGTTTCACCAGATTTAAAATA	0.313000													12	13					1.5842e-08	1.73588e-08	1	1	0
BRCA2	675	broad.mit.edu	37	13	32972372	32972372	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:32972372C>G	ENST00000544455.1	+	27	9949	c.9722C>G	c.(9721-9723)tCc>tGc	p.S3241C	BRCA2_ENST00000380152.3_Missense_Mutation_p.S3241C	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3241					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)		AAGTCTGTTTCCACACCTGTC	0.378000			"""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)			13	125					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57905952	57905952	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:57905952C>T	ENST00000262644.4	-	1	451	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	65						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GCCAGCATCTCGCGCAAGTCC	0.746000													19	23					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684576	100684576	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:100684576G>T	ENST00000306151.4	+	3	9943	c.9879G>T	c.(9877-9879)gtG>gtT	p.V3293V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3293	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCACAACGGTGGCCAGTTCTG	0.512000													72	451					1.15098e-32	1.38332e-32	1	1	0
ZEB1	6935	broad.mit.edu	37	10	31812973	31812973	+	Missense_Mutation	SNP	C	C	G	rs78449005	byFrequency	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:31812973C>G	ENST00000446923.2	+	8	3057	c.2666C>G	c.(2665-2667)gCt>gGt	p.A889G	ZEB1_ENST00000320985.10_Missense_Mutation_p.A905G|ZEB1_ENST00000361642.5_Missense_Mutation_p.A906G|ZEB1_ENST00000560721.2_Missense_Mutation_p.A885G|ZEB1_ENST00000542815.3_Missense_Mutation_p.A838G	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	905					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GGAATGTATGCTTGTGATTTG	0.368000													33	47					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562509	28562509	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:28562509A>C	ENST00000383768.2	+	9	999	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.K271Q			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	271							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGTTTTACTAAAAGAGCTGGA	0.378000													17	22					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407434	1407434	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:1407434G>C	ENST00000381524.3	+	5	428	c.242G>C	c.(241-243)tGc>tCc	p.C81S	CSF2RA_ENST00000417535.2_Missense_Mutation_p.C81S|CSF2RA_ENST00000355432.3_Missense_Mutation_p.C81S|CSF2RA_ENST00000381509.3_Missense_Mutation_p.C81S|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.C81S|CSF2RA_ENST00000381500.1_Missense_Mutation_p.C81S|CSF2RA_ENST00000355805.2_Missense_Mutation_p.C81S|CSF2RA_ENST00000432318.2_Missense_Mutation_p.C81S|CSF2RA_ENST00000361536.3_Missense_Mutation_p.C81S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	81						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAATGTTCGTGCACATTTCGT	0.433000													74	202					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79461455	79461455	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:79461455C>T	ENST00000376718.3	-	4	607	c.484G>A	c.(484-486)Gag>Aag	p.E162K	PRUNE2_ENST00000376713.3_Missense_Mutation_p.E162K|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	162					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCCAGTTGCTCGGTGATGAGC	0.502000													25	33					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854458	53854458	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:53854458C>T	ENST00000458035.1	+	4	647	c.530C>T	c.(529-531)tCc>tTc	p.S177F	ZNF845_ENST00000595091.1_Missense_Mutation_p.S177F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAACATCCCAAAGAATT	0.388000													33	84					0	0	1	0	0
CBX5	23468	broad.mit.edu	37	12	54635662	54635662	+	Silent	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:54635662A>T	ENST00000209875.4	-	5	589	c.453T>A	c.(451-453)gtT>gtA	p.V151V	CBX5_ENST00000550411.1_Silent_p.V151V|CBX5_ENST00000439541.2_Silent_p.V151V	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	151	Chromo 2; shadow subtype.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CTTTTGCAAGAACCAGGTCAG	0.398000													7	66					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002906	52002906	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:52002906C>T	ENST00000291707.3	-	3	928	c.873G>A	c.(871-873)ctG>ctA	p.L291L	SIGLEC12_ENST00000598614.1_Silent_p.L173L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	291	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAGAGCAGGTCAGGTTCCTGG	0.637000													11	98					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878784	5878784	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:5878784G>T	ENST00000537935.1	-	1	180	c.149C>A	c.(148-150)gCt>gAt	p.A50D	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACAAGAGAGCAGTGTTTCC	0.483000													38	126					4.11147e-13	4.68972e-13	1	1	0
MYH10	4628	broad.mit.edu	37	17	8393687	8393687	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:8393687C>T	ENST00000360416.3	-	35	4993	c.4855G>A	c.(4855-4857)Gaa>Aaa	p.E1619K	MYH10_ENST00000396239.1_Missense_Mutation_p.E1609K|MYH10_ENST00000269243.4_Missense_Mutation_p.E1588K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1604K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1588					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCTCTTCATTCTGCTCA	0.572000													22	98					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120884	12120884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:12120884C>T	ENST00000379388.2	+	4	1188	c.856C>T	c.(856-858)Caa>Taa	p.Q286*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	286					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTTGTATCATCAACATGAACA	0.428000													10	85					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458615	16458615	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:16458615C>T	ENST00000358432.5	-	13	2423	c.2269G>A	c.(2269-2271)Gac>Aac	p.D757N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	757	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGGCCAAAGTCAGACACCTTG	0.612000													22	102					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287716	62287716	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:62287716C>G	ENST00000378024.4	-	5	14447	c.14173G>C	c.(14173-14175)Gat>Cat	p.D4725H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4725					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTCAATATCAGGCATGGAG	0.483000													43	310					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75513169	75513169	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:75513169C>T	ENST00000332272.4	-	3	737	c.558G>A	c.(556-558)ccG>ccA	p.P186P	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P186P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	186					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGCTGAGCAGCGGGTAGAGCA	0.706000													26	70					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154755399	154755399	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:154755399G>A	ENST00000404141.1	-	9	2125	c.1971C>T	c.(1969-1971)gtC>gtT	p.V657V	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Silent_p.V657V			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	657	BRCT 3.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACGCGCTGCTGACTTGACTCT	0.473000													5	36					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412175	51412175	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:51412175G>T	ENST00000319760.6	-	1	273	c.221C>A	c.(220-222)aCc>aAc	p.T74N		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGGAGAAATGGTAGTGGAATA	0.423000													33	97					2.85442e-18	3.34096e-18	1	1	0
AKAP8	10270	broad.mit.edu	37	19	15472973	15472973	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:15472973G>T	ENST00000269701.2	-	10	1310	c.1250C>A	c.(1249-1251)aCc>aAc	p.T417N		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	417					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GAACCGCAGGGTCTCTTTGTG	0.517000													26	35					1.66031e-10	1.86287e-10	1	1	0
MYH13	8735	broad.mit.edu	37	17	10224972	10224972	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:10224972C>G	ENST00000418404.3	-	23	3151	c.2988G>C	c.(2986-2988)ttG>ttC	p.L996F	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.L996F|MYH13_ENST00000570743.1_Missense_Mutation_p.L996F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	996					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTCTTTGGTCAATTTGGAAA	0.368000													5	42					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:7578555C>A	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		CAGGGGAGTACTGTAGGAAGA	0.552000		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)			11	21					4.68919e-08	5.11097e-08	1	1	0
CPNE2	221184	broad.mit.edu	37	16	57155064	57155064	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:57155064C>G	ENST00000535318.2	+	9	1102	c.741C>G	c.(739-741)acC>acG	p.T247T	CPNE2_ENST00000537605.1_Silent_p.T145T|CPNE2_ENST00000565874.1_Silent_p.T247T|CPNE2_ENST00000290776.8_Silent_p.T247T			Q96FN4	CPNE2_HUMAN	copine II	247										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGTTCCAGACCTCAGTGTCAC	0.612000													22	65					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131068	150131068	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:150131068G>A	ENST00000369124.4	+	6	858	c.580G>A	c.(580-582)Gac>Aac	p.D194N	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.D11N|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.D160N|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	194	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAGAGGAAGACCCTTCCCC	0.602000													17	121					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55545311	55545311	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:55545311C>T	ENST00000294383.6	-	60	7099	c.7100G>A	c.(7099-7101)cGa>cAa	p.R2367Q	USP24_ENST00000407756.1_Missense_Mutation_p.R2207Q	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2367					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						AATGGGTGGTCGTTGCTTAAA	0.453000													23	133					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284436	33284436	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:33284436G>C	ENST00000431845.2	-	2	409	c.258C>G	c.(256-258)gtC>gtG	p.V86V	ZBTB22_ENST00000418724.1_Silent_p.V86V	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	86	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTTTGAGTAGGACCTGATCAT	0.607000													16	187					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104992970	104992970	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:104992970G>C	ENST00000372582.1	+	9	1822	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E356Q|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	356					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.E356*(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTATAAAATTGAGCTTGCAGG	0.398000													12	23					0	0	1	0	0
GIP	2695	broad.mit.edu	37	17	47041787	47041787	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:47041787G>C	ENST00000357424.2	-	3	242	c.142C>G	c.(142-144)Cga>Gga	p.R48G		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	48					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						CTGGGGCCTCGAGGTTGAGGG	0.557000													14	111					0	0	1	0	0
TYMS	7298	broad.mit.edu	37	18	662174	662174	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:662174C>A	ENST00000323274.10	+	3	447	c.308C>A	c.(307-309)tCc>tAc	p.S103Y	TYMS_ENST00000323224.7_Missense_Mutation_p.S103Y|TYMS_ENST00000323250.5_Intron	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	103					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	GAGCTGTCTTCCAAGGGAGTG	0.527000													76	490					1.94393e-27	2.32011e-27	1	1	0
MAPK8	5599	broad.mit.edu	37	10	49633978	49633978	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:49633978C>G	ENST00000374189.1	+	8	917	c.736C>G	c.(736-738)Cct>Gct	p.P246A	MAPK8_ENST00000360332.3_Missense_Mutation_p.P246A|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000374182.3_Missense_Mutation_p.P246A			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	246	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AACACCATGTCCTGAATTCAT	0.348000													7	57					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102939143	102939143	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:102939143C>G	ENST00000249269.4	+	2	266	c.228C>G	c.(226-228)ctC>ctG	p.L76L	PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Silent_p.L76L	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	76					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACTCTGGGCTCTCAACATGCA	0.428000													14	68					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207103738	207103738	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:207103738C>T	ENST00000356495.4	-	11	2403	c.2220G>A	c.(2218-2220)gaG>gaA	p.E740E		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	740						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGTAGGCCATCTCGGCTTCCT	0.637000													14	36					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536240	64536240	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:64536240G>T	ENST00000355086.3	+	22	3570	c.3046G>T	c.(3046-3048)Gcc>Tcc	p.A1016S	SRGAP1_ENST00000357825.3_Missense_Mutation_p.A993S|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A953S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1016					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GCACAACGTTGCCCTCAGGAG	0.557000													46	81					7.88023e-25	9.3834e-25	1	1	0
SPAG6	9576	broad.mit.edu	37	10	22700085	22700085	+	Silent	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:22700085T>C	ENST00000376603.2	+	10	1810	c.1668T>C	c.(1666-1668)tgT>tgC	p.C556C	SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000313311.6_Intron|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Silent_p.C480C|SPAG6_ENST00000376601.1_Silent_p.C241C|SPAG6_ENST00000538630.1_Silent_p.C455C			O75602	SPAG6_HUMAN	sperm associated antigen 6	480					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TTAACAGTTGTTACCCCGAGG	0.368000													12	41					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2503251	2503251	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:2503251C>G	ENST00000397066.4	+	14	1616	c.1528C>G	c.(1528-1530)Ctg>Gtg	p.L510V		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	510					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)				GCAAGTCTCTCTGACCGCCGT	0.587000													15	89					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102742642	102742642	+	RNA	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:102742642C>A	ENST00000532855.1	-	0	487							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATTGCGTAGTCAACATCCTCA	0.398000													10	17					6.40141e-05	6.63993e-05	1	1	0
OR5M1	390168	broad.mit.edu	37	11	56380690	56380690	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:56380690A>G	ENST00000526538.1	-	1	288	c.289T>C	c.(289-291)Tgc>Cgc	p.C97R		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGTGTGAAGCATCCAGCGTAG	0.453000													28	127					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726407	67726407	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:67726407T>G	ENST00000433211.1	-	17	2537	c.2363A>C	c.(2362-2364)gAg>gCg	p.E788A	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E788A|CTNNA3_ENST00000373735.1_Missense_Mutation_p.E127A	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	788					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTTCTGGATCTCAGCTTTAAC	0.458000													14	53					0	0	1	0	0
LBX2	85474	broad.mit.edu	37	2	74725252	74725252	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:74725252G>C	ENST00000460508.3	-	2	843	c.387C>G	c.(385-387)ttC>ttG	p.F129L	LBX2_ENST00000377566.4_Missense_Mutation_p.F133L|LBX2_ENST00000341396.2_3'UTR|LBX2_ENST00000550249.1_5'UTR	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	133						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GCCGGTTCTGGAACCAAGTGA	0.662000													13	69					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22074697	22074697	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:22074697C>G	ENST00000308271.9	-	7	1490	c.842G>C	c.(841-843)aGa>aCa	p.R281T	USP48_ENST00000400301.1_Missense_Mutation_p.R281T|USP48_ENST00000529637.1_Missense_Mutation_p.R281T|USP48_ENST00000421625.2_Missense_Mutation_p.R281T	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	281					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCGAATCTTTCTTGTTGCATT	0.343000													7	57					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063265	72063265	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:72063265G>C	ENST00000305425.4	-	7	2014	c.1592C>G	c.(1591-1593)tCt>tGt	p.S531C	DACH1_ENST00000359684.2_Missense_Mutation_p.S583C|DACH1_ENST00000313174.7_Missense_Mutation_p.S383C|DACH1_ENST00000354591.4_Missense_Mutation_p.S329C	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	581					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGTTGGTGTAGAAAGCGGGGT	0.443000													57	325					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20403984	20403984	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:20403984C>A	ENST00000285600.4	+	1	218	c.159C>A	c.(157-159)tcC>tcA	p.S53S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTTTGACTCCCATTTGAACT	0.368000													83	294					7.31121e-38	8.85946e-38	1	1	0
TPD52L2	7165	broad.mit.edu	37	20	62505104	62505104	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:62505104C>G	ENST00000217121.5	+	3	321	c.249C>G	c.(247-249)ctC>ctG	p.L83L	TPD52L2_ENST00000346249.4_Silent_p.L83L|TPD52L2_ENST00000352482.4_Silent_p.L83L|TPD52L2_ENST00000348257.5_Silent_p.L83L|TPD52L2_ENST00000369927.4_Silent_p.L60L|TPD52L2_ENST00000351424.4_Silent_p.L83L|TPD52L2_ENST00000358548.4_Silent_p.L83L	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	83					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GGCTGGGCCTCTCCACCCTGG	0.622000													12	37					0	0	1	0	0
NKX2-4	644524	broad.mit.edu	37	20	21376830	21376830	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:21376830G>C	ENST00000351817.4	-	2	1412	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	262					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						ggcgggcccaggccgcccTCC	0.716000													11	1					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104165179	104165179	+	Silent	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:104165179A>G	ENST00000020673.5	-	12	2776	c.2250T>C	c.(2248-2250)acT>acC	p.T750T	PSD_ENST00000406432.1_Silent_p.T750T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	750					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CAGGCTCGGGAGTCAGGTCCA	0.652000													8	157					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72137099	72137099	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:72137099C>G	ENST00000268482.3	+	12	2135	c.1626C>G	c.(1624-1626)ctC>ctG	p.L542L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	542	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGGAGCTGCTCACTATTATCA	0.512000													10	69					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78766912	78766912	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:78766912C>A	ENST00000436010.2	-	4	1659		c.e4+1		ROBO1_ENST00000467549.1_Splice_Site|ROBO1_ENST00000464233.1_Splice_Site|ROBO1_ENST00000495273.1_Splice_Site			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)						activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTACACTTACCTAAGACAGT	0.358000													6	10					0.00116845	0.00119632	1	1	0
OXER1	165140	broad.mit.edu	37	2	42991239	42991239	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:42991239G>C	ENST00000378661.2	-	1	162	c.81C>G	c.(79-81)ctC>ctG	p.L27L		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	27					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GAAGGTTCTGGAGTCTTCTAC	0.557000													9	111					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228996699	228996699	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:228996699C>G	ENST00000392056.3	-	2	181	c.135G>C	c.(133-135)aaG>aaC	p.K45N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.K45N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	45						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)		AGGTTACCTTCTTACAGGCTG	0.458000													14	71					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19018358	19018358	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:19018358G>C	ENST00000420770.2	+	5	780	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	PAX7_ENST00000375375.3_Missense_Mutation_p.E233Q|PAX7_ENST00000400661.3_Missense_Mutation_p.E231Q	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	233					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GGAGGAGCTGGAGAAGGCCTT	0.632000			T	FOXO1A	alveolar rhabdomyosarcoma								9	30					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70776805	70776805	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:70776805C>T	ENST00000373719.3	+	10	1387	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	OGT_ENST00000373701.3_Silent_p.I380I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	390					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTTTAGAATCAGTCCTACCT	0.388000													6	13					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127783818	127783818	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:127783818C>T	ENST00000243253.3	+	8	899	c.715C>T	c.(715-717)Ctt>Ttt	p.L239F	RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000424880.2_Missense_Mutation_p.L119F|SEC61A1_ENST00000483956.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.L245F	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	239					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CCGCCAGAATCTTCCCAACCT	0.517000													20	119					0	0	1	0	0
KLRAP1	10748	broad.mit.edu	37	12	10750678	10750678	+	RNA	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:10750678C>T	ENST00000510134.2	-	0	278																				breast(1)|large_intestine(1)|lung(1)	3						TGAGTATCATCAGGCCTTAAT	0.368000													28	223					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994291	143994291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:143994291C>A	ENST00000323110.2	-	7	1134	c.1132G>T	c.(1132-1134)Gtg>Ttg	p.V378L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	378					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)	AACAGACCCACAGGGTAGAGC	0.597000									Familial Hyperaldosteronism type I				9	37					3.07112e-06	3.25437e-06	1	1	0
RPS25	6230	broad.mit.edu	37	11	118886586	118886586	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:118886586C>T	ENST00000527673.1	-	4	752	c.347G>A	c.(346-348)gGa>gAa	p.G116E		NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	116					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGGAGCATCTCCACCCTTGGT	0.443000													14	123					0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128697005	128697005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:128697005G>A	ENST00000265068.5	-	5	858	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	KIAA1257_ENST00000515659.1_Nonsense_Mutation_p.Q119*|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Nonsense_Mutation_p.Q231*	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	231										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AATTTTCTCTGATTTAAAACC	0.353000													20	70					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154940681	154940681	+	Splice_Site	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:154940681G>A	ENST00000448116.2	-	5	1023	c.804_splice	c.e5+1	p.P268_splice	SHC1_ENST00000368453.4_Splice_Site_p.P158_splice|SHC1_ENST00000368445.5_Splice_Site_p.P268_splice|SHC1_ENST00000606391.1_Splice_Site_p.P69_splice|SHC1_ENST00000368450.1_Splice_Site_p.P158_splice|SHC1_ENST00000368449.4_Splice_Site_p.P39_splice	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	268	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCAACTCACCGGATCCCCGCC	0.532000													123	351					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179416785	179416785	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:179416785C>A	ENST00000589042.1	-	335	91066	c.90842G>T	c.(90841-90843)aGa>aTa	p.R30281I	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R28640I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21216I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27713I|TTN_ENST00000342175.6_Missense_Mutation_p.R21408I|TTN_ENST00000359218.5_Missense_Mutation_p.R21341I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28640	Fibronectin type-III 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			GAAAGTCGTTCTGGCAACACT	0.433000													14	66					7.93312e-07	8.45871e-07	1	1	0
EIF3A	8661	broad.mit.edu	37	10	120833071	120833071	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:120833071C>G	ENST00000369144.3	-	3	386	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.E53Q	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	87					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACAACATCCTCCAGAGATTTT	0.323000													13	78					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956360	128956360	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:128956360C>T	ENST00000274487.4	+	9	1655	c.1510C>T	c.(1510-1512)Cat>Tat	p.H504Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	504	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGATGGTCTTCATATCATGTC	0.373000													15	121					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230390976	230390976	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:230390976G>A	ENST00000366672.4	+	11	1094	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	GALNT2_ENST00000543760.1_Missense_Mutation_p.R303H|GALNT2_ENST00000541865.1_Silent_p.P216P	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	341	Catalytic subdomain B.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ATCTCGTTCCGCGTGTGGCAG	0.617000													24	150					0	0	1	0	0
TSNAX	7257	broad.mit.edu	37	1	231700429	231700429	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:231700429G>C	ENST00000366639.4	+	6	809	c.651G>C	c.(649-651)gtG>gtC	p.V217V	TRAX_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	217					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				CCTTTGAAGTGAGCCAGTTTT	0.438000													16	141					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109756748	109756748	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:109756748G>A	ENST00000369923.4	+	1	145	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	SARS_ENST00000234677.2_Missense_Mutation_p.R45Q			P49591	SYSC_HUMAN	seryl-tRNA synthetase	45					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	p.R45Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GAGTGGCGACGATGTAAGTAC	0.592000													5	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596612	179596612	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:179596612G>T	ENST00000589042.1	-	58	17214	c.16990C>A	c.(16990-16992)Cct>Act	p.P5664T	TTN_ENST00000591111.1_Missense_Mutation_p.P5347T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4420T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5347	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TCAAAGGGAGGAGTGCCTGCC	0.418000													27	98					7.76418e-22	9.20266e-22	1	1	0
USO1	8615	broad.mit.edu	37	4	76708341	76708341	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:76708341G>A	ENST00000538159.1	+	10	988	c.988G>A	c.(988-990)Gat>Aat	p.D330N	USO1_ENST00000514213.2_Missense_Mutation_p.D313N			O60763	USO1_HUMAN	USO1 vesicle transport factor	328	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGTTCCTGCTGATATCCTGAC	0.443000													50	80					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29122596	29122596	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:29122596C>T	ENST00000261590.8	+	14	2324	c.2115C>T	c.(2113-2115)gtC>gtT	p.V705V	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	705					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTTCCATTGTCAAAGGGCAAC	0.517000													67	65					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496966	124496966	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:124496966G>T	ENST00000539644.1	+	6	2105	c.275G>T	c.(274-276)tGt>tTt	p.C92F	RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Missense_Mutation_p.C92F|ZNF664_ENST00000337815.4_Missense_Mutation_p.C92F|ZNF664_ENST00000538932.2_Missense_Mutation_p.C92F			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TGTTACGAGTGTGGCAAAGCC	0.388000													8	116					0.00307968	0.00313756	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38968063	38968063	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:38968063C>T	ENST00000357387.3	-	12	1072	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	RICTOR_ENST00000296782.5_Missense_Mutation_p.E348K	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	348					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGTAGTGCTTCTATGAACTCC	0.323000													5	71					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11572518	11572518	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:11572518T>A	ENST00000262442.3	+	16	2937	c.2869T>A	c.(2869-2871)Ttt>Att	p.F957I	DNAH9_ENST00000454412.2_Missense_Mutation_p.F957I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	957	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CACCAGCATTTTTAGGATACC	0.527000													18	107					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153782715	153782715	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:153782715C>A	ENST00000368655.4	-	11	1963	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	574						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAAAGGTATTCACGCTGTCGG	0.507000													18	124					3.32936e-07	3.57958e-07	1	1	0
PIGZ	80235	broad.mit.edu	37	3	196675308	196675308	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:196675308C>T	ENST00000412723.1	-	3	606	c.460G>A	c.(460-462)Gat>Aat	p.D154N	PIGZ_ENST00000443835.1_Intron	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	154					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TTCCAGCGATCCGCCCCCATC	0.637000													19	77					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36277909	36277909	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:36277909C>T	ENST00000007510.4	+	20	2681	c.2537C>T	c.(2536-2538)gCc>gTc	p.A846V	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A710V|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A685V			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	846					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGAGCCGAGGCCCCGCTGACT	0.716000													11	41					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15326047	15326047	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:15326047G>A	ENST00000378116.4	-	2	161	c.155C>T	c.(154-156)gCg>gTg	p.A52V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	52						integral to membrane		p.A52V(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCGATGAGCGCATCTGCTAC	0.552000													31	64					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41510526	41510526	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:41510526C>A	ENST00000377801.3	-	1	177	c.103_splice	c.e1+1	p.G35_splice	PLCXD3_ENST00000328457.3_Splice_Site_p.G35_splice			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	35	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCGCGCCTACCTGGAATGGCT	0.627000													13	33					5.50884e-06	5.79581e-06	1	1	0
TARS	6897	broad.mit.edu	37	5	33458763	33458763	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:33458763C>G	ENST00000265112.3	+	10	1388	c.1077C>G	c.(1075-1077)ttC>ttG	p.F359L	TARS_ENST00000414361.2_Missense_Mutation_p.F238L|TARS_ENST00000502553.1_Missense_Mutation_p.F359L|TARS_ENST00000455217.2_Missense_Mutation_p.F392L|TARS_ENST00000541634.1_Missense_Mutation_p.F255L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	359					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTATTGAATTCATTAGGGTAA	0.313000													6	100					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109806952	109806952	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:109806952G>T	ENST00000271332.3	+	10	5315	c.5254G>T	c.(5254-5256)Ggc>Tgc	p.G1752C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1752	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.G1752S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGGCCAGCCGGCGGTGTGGC	0.667000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	94					4.75885e-15	5.48279e-15	1	1	0
ZNF585A	199704	broad.mit.edu	37	19	37643190	37643190	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:37643190G>A	ENST00000356958.4	-	5	1869	c.1611C>T	c.(1609-1611)ctC>ctT	p.L537L	ZNF585A_ENST00000292841.5_Silent_p.L482L|ZNF585A_ENST00000392157.2_Silent_p.L482L|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTATATTGAGGTGTGACT	0.413000													15	215					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88588668	88588668	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:88588668G>A	ENST00000266712.6	+	14	2207	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	664						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTATATAAATGAAGAGCCACT	0.313000													15	78					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36019096	36019096	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:36019096C>T	ENST00000452271.2	-	1	116	c.88G>A	c.(88-90)Gag>Aag	p.E30K	SBSN_ENST00000518157.1_Missense_Mutation_p.E30K	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	30						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATGACCTTCTCAATGGGGTCA	0.592000													16	254					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5661719	5661719	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:5661719G>A	ENST00000292123.5	+	15	2160	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	SAFB_ENST00000588852.1_Missense_Mutation_p.E685K|SAFB_ENST00000592224.1_Missense_Mutation_p.E684K|SAFB_ENST00000538656.1_Missense_Mutation_p.E527K|SAFB_ENST00000433404.1_Missense_Mutation_p.E515K|SAFB_ENST00000454510.1_Missense_Mutation_p.E616K	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	685	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCGCGAGCAGGAGCGCATCCA	0.731000													6	15					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43568685	43568685	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:43568685C>T	ENST00000452443.2	-	13	2105	c.2101G>A	c.(2101-2103)Gac>Aac	p.D701N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	701					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	ACGAAGATGTCCTTGTAGCCT	0.602000													19	114					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702603	120702603	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:120702603C>T	ENST00000527524.2	+	7	841	c.554C>T	c.(553-555)tCc>tTc	p.S185F	GRIK4_ENST00000438375.2_Missense_Mutation_p.S185F			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	185					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TTCCTTATCTCCAAGGACACG	0.597000													10	140					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153667448	153667448	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:153667448A>C	ENST00000447750.2	+	4	685	c.350A>C	c.(349-351)tAc>tCc	p.Y117S		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	117					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCAAGATCTACAAAGTGCCG	0.557000													109	113					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151238026	151238026	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:151238026C>G	ENST00000368884.3	+	6	675	c.595C>G	c.(595-597)Ctt>Gtt	p.L199V	PSMD4_ENST00000368881.4_Missense_Mutation_p.L199V	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	199					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|DNA repair|G1/S transition of mitotic cell cycle|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATGCTGGGTCTTGGTGCCAG	0.542000													11	107					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183994696	183994696	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:183994696G>A	ENST00000402825.3	+	3	497	c.497G>A	c.(496-498)gGg>gAg	p.G166E	ECE2_ENST00000404464.3_Missense_Mutation_p.G48E|ECE2_ENST00000359140.4_Missense_Mutation_p.G19E|ECE2_ENST00000357474.5_Missense_Mutation_p.G94E|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	166					brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCAGAAGGGGACAAGACAG	0.582000													20	114					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581600	140581600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:140581600C>A	ENST00000354757.3	+	1	2253	c.2253C>A	c.(2251-2253)taC>taA	p.Y751*	PCDHB11_ENST00000536699.1_Nonsense_Mutation_p.Y386*	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		751					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTACCAGTACGAGGTGTGTC	0.562000													107	112					2.63247e-40	3.19746e-40	1	1	0
DCD	117159	broad.mit.edu	37	12	55039016	55039016	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:55039016A>G	ENST00000456047.2	-	4	419	c.230T>C	c.(229-231)gTg>gCg	p.V77A	DCD_ENST00000293371.6_Missense_Mutation_p.V77A			P81605	DCD_HUMAN	dermcidin	77					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				GAGTCCCCCCACAGCTTTTTT	0.488000													10	61					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20639364	20639364	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:20639364C>G	ENST00000525748.1	+	7	1467	c.1194C>G	c.(1192-1194)ctC>ctG	p.L398L		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	398					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CACTAGCTCTCTGCCTCTTCC	0.473000													24	159					0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54968510	54968510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:54968510C>A	ENST00000539768.1	-	2	126	c.127G>T	c.(127-129)Gag>Tag	p.E43*	SLC38A9_ENST00000515629.1_5'UTR|SLC38A9_ENST00000416547.2_Intron|SLC38A9_ENST00000396865.2_Nonsense_Mutation_p.E43*|SLC38A9_ENST00000512595.1_Nonsense_Mutation_p.E16*|SLC38A9_ENST00000318672.3_Nonsense_Mutation_p.E43*			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	43					amino acid transport|sodium ion transport	integral to membrane		p.E43K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TTTGTGGGCTCTATACAGAAA	0.418000													16	40					2.23348e-06	2.37164e-06	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54792370	54792370	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:54792370G>T	ENST00000306858.7	+	4	790	c.674G>T	c.(673-675)gGa>gTa	p.G225V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	225										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAATTCCATGGAAAAATGGAA	0.333000													12	84					0.00136819	0.00139806	1	1	0
FMN2	56776	broad.mit.edu	37	1	240371456	240371456	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:240371456G>A	ENST00000319653.9	+	5	3574	c.3344G>A	c.(3343-3345)gGa>gAa	p.G1115E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1115	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTACCCGGAGCGGGCATA	0.716000													6	39					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857115	90857115	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:90857115C>A	ENST00000394980.1	+	7	2603	c.2284C>A	c.(2284-2286)Cat>Aat	p.H762N	MMRN1_ENST00000508372.1_Missense_Mutation_p.H504N|MMRN1_ENST00000264790.2_Missense_Mutation_p.H762N|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	762					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TAGTGAGATCCATCATAAATG	0.318000													11	38					4.68919e-08	5.11097e-08	1	1	0
MAGEA11	4110	broad.mit.edu	37	X	148798190	148798190	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:148798190G>T	ENST00000355220.5	+	5	1146	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E319D	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	348	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGGAAGGGAGCACTTCCTCT	0.532000													46	328					2.65591e-33	3.19952e-33	1	1	0
PIANP	196500	broad.mit.edu	37	12	6804596	6804596	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:6804596C>A	ENST00000534837.1	-	5	1056	c.827G>T	c.(826-828)cGg>cTg	p.R276L	PIANP_ENST00000540656.1_Splice_Site_p.R276_splice|PIANP_ENST00000320591.5_Splice_Site_p.R276_splice	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		CTGCCCTCACCGGTTCAACTG	0.667000													13	35					1.61879e-10	1.81827e-10	1	1	0
SEMA3F	6405	broad.mit.edu	37	3	50223757	50223757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:50223757C>T	ENST00000002829.3	+	17	2273	c.1789C>T	c.(1789-1791)Cag>Tag	p.Q597*	SEMA3F_ENST00000434342.1_Nonsense_Mutation_p.Q566*|SEMA3F_ENST00000413852.1_Nonsense_Mutation_p.Q498*	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	597					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCCCATCAGGCAGTGCCGTGG	0.647000													15	26					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121412826	121412826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:121412826G>A	ENST00000393667.3	-	13	6654	c.6544C>T	c.(6544-6546)Cag>Tag	p.Q2182*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.Q2177*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2177					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)		AAGTTTTCCTGAAGTTGCTGA	0.443000													49	56					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903054	5903054	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:5903054C>A	ENST00000378961.4	+	4	468	c.264C>A	c.(262-264)gaC>gaA	p.D88E		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	88						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TGTTAAGAGACCCAGCTGATG	0.473000													15	51					1.5739e-10	1.77171e-10	1	1	0
OR4M1	441670	broad.mit.edu	37	14	20248535	20248535	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:20248535C>A	ENST00000315957.4	+	1	135	c.54C>A	c.(52-54)tcC>tcA	p.S18S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGCCTATCCCAGACTCGGG	0.353000													95	628					6.1132e-60	7.434e-60	1	1	0
ULK2	9706	broad.mit.edu	37	17	19770655	19770655	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:19770655C>A	ENST00000395544.4	-	1	575	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	ULK2_ENST00000361658.2_Missense_Mutation_p.G26W	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	26	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CGGTGCCGCCCCCGGAAGACC	0.741000													8	11					1.58986e-06	1.69169e-06	1	1	0
CSE1L	1434	broad.mit.edu	37	20	47706076	47706076	+	Splice_Site	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:47706076A>T	ENST00000262982.2	+	19	2097	c.1972_splice	c.e19-1	p.E658_splice	CSE1L_ENST00000542325.1_Splice_Site_p.E441_splice|CSE1L_ENST00000396192.3_Splice_Site_p.E602_splice	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	658					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TATCAACAGAATTTATTCCAT	0.408000													26	53					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194152480	194152480	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:194152480G>C	ENST00000439040.1	-	22	3178	c.2387C>G	c.(2386-2388)aCg>aGg	p.T796R	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T796R			Q9H7F0	AT133_HUMAN	ATPase type 13A3	796					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACTGCACTGCGTGAGGGAGTC	0.383000													7	57					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117676951	117676951	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:117676951G>A	ENST00000276204.6	+	3	356	c.282G>A	c.(280-282)aaG>aaA	p.K94K	DOCK11_ENST00000276202.7_Silent_p.K94K			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	94	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATGCTGAAAAGAGGGCCCAGA	0.373000													17	61					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123484227	123484227	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:123484227G>A	ENST00000529750.1	+	15	1986	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	GRAMD1B_ENST00000322282.7_Silent_p.E553E|GRAMD1B_ENST00000456860.2_Silent_p.E560E|GRAMD1B_ENST00000450171.2_Silent_p.E244E	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	553						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CTCCCAAAGAGAAGGCCAGCA	0.577000													6	55					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4042218	4042218	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:4042218G>C	ENST00000294016.3	-	5	2674	c.2136C>G	c.(2134-2136)ctC>ctG	p.L712L	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	712					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						TCAGCGGAAGGAGAGCCGACT	0.552000													12	113					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154743717	154743717	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:154743717T>G	ENST00000607772.1	-	9	1412	c.868A>C	c.(868-870)Aag>Cag	p.K290Q	CNKSR3_ENST00000479339.1_Missense_Mutation_p.K210Q|CNKSR3_ENST00000433165.2_Missense_Mutation_p.K115Q	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	290	PDZ.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGGCGCTTCTTAAGCAGTAAC	0.483000													65	48					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77304305	77304305	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:77304305G>C	ENST00000393774.3	+	5	710	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.E179Q	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	196										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CTGGAGCCTTGAGCTTTCAGG	0.448000													5	8					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031120	33031120	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:33031120C>T	ENST00000340811.4	-	3	802	c.694G>A	c.(694-696)Gac>Aac	p.D232N	PKP2_ENST00000070846.6_Missense_Mutation_p.D232N	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	232					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGGATGCTGTCAAAAACGGTG	0.612000													11	57					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324296	136324296	+	Missense_Mutation	SNP	G	G	A	rs149415518	byFrequency	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:136324296G>A	ENST00000394945.1	-	8	912	c.743C>T	c.(742-744)tCc>tTc	p.S248F	SPOCK1_ENST00000282223.7_Missense_Mutation_p.S248F|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	248					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGCCCAGGGAGTCCTTGCA	0.517000													11	59					0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80280235	80280235	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:80280235G>A	ENST00000580437.1	-	5	557	c.443C>T	c.(442-444)tCc>tTc	p.S148F	SECTM1_ENST00000269389.3_Silent_p.F183F			Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	0					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GTTCTAGGAGGAAGAACTTCT	0.667000													16	73					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118485727	118485727	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:118485727C>T	ENST00000311085.8	+	18	4285	c.4205C>T	c.(4204-4206)tCt>tTt	p.S1402F	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1402F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1402										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAAATAGATTCTGTTCCTCCA	0.423000													18	77					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14758112	14758112	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:14758112C>T	ENST00000253673.5	-	8	863	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	EMR3_ENST00000599900.1_Missense_Mutation_p.E40K|EMR3_ENST00000443157.2_Missense_Mutation_p.E129K|EMR3_ENST00000344373.4_Missense_Mutation_p.E203K	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	255					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.E255fs*1(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TCCATCTCTTCAAAAAAAGTT	0.398000													24	62					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15475724	15475724	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:15475724G>T	ENST00000281171.4	+	1	394	c.64G>T	c.(64-66)Gtg>Ttg	p.V22L	PTPRO_ENST00000348962.2_Missense_Mutation_p.V22L|PTPRO_ENST00000543886.1_Missense_Mutation_p.V22L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	22						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTGGCTCTTTGTGCTGTTCAA	0.736000													7	25					1.12685e-05	1.17953e-05	1	1	0
ADHFE1	137872	broad.mit.edu	37	8	67357583	67357583	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:67357583G>C	ENST00000396623.3	+	6	515	c.484G>C	c.(484-486)Gat>Cat	p.D162H	ADHFE1_ENST00000415254.1_Missense_Mutation_p.D114H|ADHFE1_ENST00000379385.4_Missense_Mutation_p.D162H|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	162					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGATTTCCTAGATTATGTCAG	0.458000													29	168					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796917	127796917	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:127796917C>T	ENST00000556132.1	-	6	3118	c.2254G>A	c.(2254-2256)Gac>Aac	p.D752N	SOGA3_ENST00000465909.2_Missense_Mutation_p.D752N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D752N|SOGA3_ENST00000481848.2_Missense_Mutation_p.D752N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D752N	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	752						integral to membrane											CTCTCGGCGTCGCTGTCGCGG	0.692000													44	90					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55726117	55726117	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:55726117G>A	ENST00000379667.1	+	1	633	c.633G>A	c.(631-633)gtG>gtA	p.V211V		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGGCATTAGTGATTTTATCTT	0.368000													25	122					0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31230798	31230798	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:31230798C>T	ENST00000322122.3	+	4	959	c.675C>T	c.(673-675)gtC>gtT	p.V225V		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	225					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TGGAGAAGGTCCTGGAGGAGG	0.672000													9	59					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235388081	235388081	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:235388081C>T	ENST00000264183.3	-	12	1404	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	ARID4B_ENST00000366603.2_Missense_Mutation_p.E303K|ARID4B_ENST00000349213.3_Missense_Mutation_p.E303K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	303	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GGAAATGGTTCTATTTCTTCC	0.284000													5	29					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42888077	42888077	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:42888077G>T	ENST00000025301.2	+	11	5579		c.e11+1			NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11						intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAAGTAGAAGGTAATTTGATT	0.323000													26	23					8.16721e-17	9.49461e-17	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157931118	157931118	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:157931118C>A	ENST00000389413.3	-	7	1103	c.1000G>T	c.(1000-1002)Gag>Tag	p.E334*	PTPRN2_ENST00000389418.4_Nonsense_Mutation_p.E334*|PTPRN2_ENST00000404321.2_Nonsense_Mutation_p.E357*|PTPRN2_ENST00000389416.4_Nonsense_Mutation_p.E317*|PTPRN2_ENST00000409483.1_Nonsense_Mutation_p.E296*	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	334						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCATCAGCTCAGCCATGCCG	0.657000													14	70					8.10497e-08	8.81533e-08	1	1	0
CTSL3P	392360	broad.mit.edu	37	9	90387898	90387898	+	RNA	SNP	C	C	T	rs141099992		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:90387898C>T	ENST00000354530.2	+	0	69					NR_027917.1																						TGGCCATGAACGCCTTTGGAG	0.453000													5	66					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44888406	44888406	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:44888406C>T	ENST00000261866.7	-	25	4325	c.4309G>A	c.(4309-4311)Gag>Aag	p.E1437K	SPG11_ENST00000427534.2_Missense_Mutation_p.E1437K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1437K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1437K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1437					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCGGTCATCTCTTGTTTGCTT	0.498000													15	54					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43540822	43540822	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:43540822G>A	ENST00000395891.1	+	21	4137	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	HECW1_ENST00000453890.1_Missense_Mutation_p.E1144K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1178					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCTCTTTGAAGAAGAGATTAT	0.443000													11	39					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1103569	1103569	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:1103569C>G	ENST00000441003.2	+	47	8109	c.8082C>G	c.(8080-8082)ttC>ttG	p.F2694L		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5056						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCATCACATTCATGCCCAATG	0.652000													3	6					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23299183	23299183	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:23299183T>G	ENST00000358689.4	-	8	1016	c.781A>C	c.(781-783)Att>Ctt	p.I261L	ENTPD4_ENST00000356206.6_Missense_Mutation_p.I261L|ENTPD4_ENST00000417069.2_Missense_Mutation_p.I261L	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	261					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TTACGGACAATGGCTTCGCTG	0.488000													7	48					0	0	1	0	0
NOP58	51602	broad.mit.edu	37	2	203155928	203155928	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:203155928G>A	ENST00000264279.5	+	8	941	c.715G>A	c.(715-717)Gag>Aag	p.E239K		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	239				KAAAEISMGTEVSEEDICNILHLCTQ -> EGSCRDIHGNR GFRRRYLQYSASLHP (in Ref. 6; AAF29084).	cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGCAGCTGCAGAGATATCAAT	0.433000													25	96					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12297668	12297668	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:12297668G>C	ENST00000343979.4	+	4	615	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	ZNF136_ENST00000398616.2_Missense_Mutation_p.E93Q	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	159					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCGAACACATGAGATAATTCA	0.403000													10	31					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149506577	149506577	+	RNA	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:149506577G>T	ENST00000378016.2	+	0	9351							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)			GGACTAACCAGACCTGCCACC	0.662000													4	1					0.000602214	0.000617195	1	1	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													8	108					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124141352	124141352	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:124141352G>A	ENST00000287380.1	+	15	2254	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K	TBC1D31_ENST00000522420.1_Missense_Mutation_p.E617K|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E276K|TBC1D31_ENST00000378080.2_Silent_p.L615L|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E722K|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E722K|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E599K	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GCAAAGAGTTGAAGATGAAGC	0.373000													16	93					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42876041	42876041	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:42876041G>A	ENST00000537864.1	+	0	46				GDAP1L1_ENST00000372952.3_Missense_Mutation_p.D23N|GDAP1L1_ENST00000342560.5_Missense_Mutation_p.D23N			Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1											endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTGGAGAGCGATGCGGCCAA	0.672000													7	30					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102837679	102837679	+	RNA	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:102837679C>G	ENST00000312132.4	-	0	3492																											TGTGCTGTGTCAAAAACAGCT	0.348000													4	25					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96795924	96795924	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:96795924G>A	ENST00000359933.4	-	12	2671	c.1778C>T	c.(1777-1779)tCa>tTa	p.S593L		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	593										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCGGGAAGCTGATCTTTGTCT	0.313000													18	54					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	424344	424344	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:424344C>T	ENST00000431232.2	-	10	1792	c.1632G>A	c.(1630-1632)caG>caA	p.Q544Q	TMEM8A_ENST00000250930.3_Silent_p.Q351Q	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	544					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGGCCGCCCTCTGCTGGGCCA	0.667000											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	19	57					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725376	38725376	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:38725376C>A	ENST00000409072.3	-	2	1164	c.230G>T	c.(229-231)gGg>gTg	p.G77V						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CTTCGTTGGCCCCTGGGCAGC	0.542000													23	121					1.10923e-09	1.23381e-09	1	1	0
PPIG	9360	broad.mit.edu	37	2	170489726	170489726	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:170489726C>T	ENST00000260970.3	+	12	1206	c.986C>T	c.(985-987)tCt>tTt	p.S329F	PPIG_ENST00000409714.3_Missense_Mutation_p.S314F|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Missense_Mutation_p.S329F|PPIG_ENST00000448752.2_Missense_Mutation_p.S329F	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	329					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GTTACTAGATCTGGCAGGAAA	0.373000													19	38					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99168522	99168522	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:99168522G>C	ENST00000401707.2	+	15	2383	c.2302G>C	c.(2302-2304)Gag>Cag	p.E768Q	POP1_ENST00000349693.3_Missense_Mutation_p.E768Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	768					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCACCCCAGGGAGGCAGAGGA	0.542000													32	148					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155735072	155735072	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:155735072C>G	ENST00000437809.1	-	21	4314	c.4192G>C	c.(4192-4194)Gat>Cat	p.D1398H	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.D1398H|GON4L_ENST00000368331.1_Missense_Mutation_p.D1398H|GON4L_ENST00000361040.5_Missense_Mutation_p.D1398H			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1398					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTCCTTCATCAGGGGGCTCT	0.493000													16	135					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832319	35832319	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:35832319C>T	ENST00000085219.5	+	8	1647	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	CD22_ENST00000536635.2_Silent_p.L439L|CD22_ENST00000419549.2_Silent_p.L355L|CD22_ENST00000544992.2_Silent_p.L527L|CD22_ENST00000341773.6_Silent_p.L350L|CD22_ENST00000594250.1_Silent_p.L350L|CD22_ENST00000270311.6_Silent_p.L407L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	527	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CGGTCAGCCTCCAATGTGACT	0.542000													12	168					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976017	7976017	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:7976017G>C	ENST00000545011.1	+	7	1019	c.954G>C	c.(952-954)cgG>cgC	p.R318R	MAP2K7_ENST00000397981.3_Silent_p.R276R|MAP2K7_ENST00000397979.3_Silent_p.R276R|MAP2K7_ENST00000397983.3_Silent_p.R292R			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	276	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor 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	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CCAAGACGCGGAGCGCCGGCT	0.692000													5	43					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90453300	90453300	+	Missense_Mutation	SNP	C	C	T	rs115492868	by1000genomes	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:90453300C>T	ENST00000369393.3	-	30	4427	c.4312G>A	c.(4312-4314)Gac>Aac	p.D1438N	MDN1_ENST00000428876.1_Missense_Mutation_p.D1438N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1438					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAACCTTGTCGTTTGGCTTT	0.478000													7	125					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287752	62287752	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:62287752C>G	ENST00000378024.4	-	5	14411	c.14137G>C	c.(14137-14139)Gag>Cag	p.E4713Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4713					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGCTCATCTCAGGCATCTTG	0.468000													51	330					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160710154	160710154	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:160710154C>T	ENST00000263636.4	-	19	2677	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D884N|LY75_ENST00000554112.1_Missense_Mutation_p.D884N|LY75_ENST00000553424.1_Missense_Mutation_p.D884N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D884N	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTAAAATGATCATCTATTGGC	0.343000													8	82					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14028969	14028969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:14028969G>T	ENST00000318003.7	+	7	1076	c.835G>T	c.(835-837)Gat>Tat	p.D279Y	CC2D1A_ENST00000589606.1_Missense_Mutation_p.D279Y	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	279	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCAGCAGGGAGATACCACTGC	0.662000													6	14					0.0215528	0.0217215	1	1	0
ANKMY1	51281	broad.mit.edu	37	2	241465252	241465252	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:241465252G>A	ENST00000391987.1	-	7	1284	c.918C>T	c.(916-918)aaC>aaT	p.N306N	ANKMY1_ENST00000406958.1_Silent_p.N165N|ANKMY1_ENST00000361678.4_Silent_p.N165N|ANKMY1_ENST00000405523.3_Silent_p.N165N|ANKMY1_ENST00000405002.1_Silent_p.N76N|ANKMY1_ENST00000401804.1_Silent_p.N395N|ANKMY1_ENST00000536462.1_Silent_p.N118N|ANKMY1_ENST00000373318.2_Silent_p.N165N|ANKMY1_ENST00000373320.4_Silent_p.N76N|ANKMY1_ENST00000272972.3_Silent_p.N306N|ANKMY1_ENST00000403283.1_Silent_p.N244N			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	306							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGACAATGTCGTTGTGGCAGT	0.587000													31	92					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134491574	134491574	+	Splice_Site	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:134491574C>T	ENST00000367858.5	-	14	2011		c.e14-1		SGK1_ENST00000237305.7_Splice_Site|SGK1_ENST00000413996.3_Splice_Site|SGK1_ENST00000367857.5_Splice_Site|SGK1_ENST00000475719.2_Splice_Site|SGK1_ENST00000528577.1_Splice_Site	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						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)		TGGGCCCACTCTGTGACGGGA	0.507000													14	77					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50689234	50689234	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:50689234C>G	ENST00000216271.5	-	2	512	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.E54Q|HDAC10_ENST00000349505.4_Missense_Mutation_p.E54Q|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	54	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGAGGCCTCGCGGGCTGAC	0.706000													3	8					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51214793	51214793	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:51214793C>T	ENST00000245441.5	-	22	5171	c.4981G>A	c.(4981-4983)Gag>Aag	p.E1661K	NIN_ENST00000530997.2_Missense_Mutation_p.E1661K|NIN_ENST00000453196.1_Missense_Mutation_p.E1661K|NIN_ENST00000389868.3_Missense_Mutation_p.E948K|NIN_ENST00000382041.3_Missense_Mutation_p.E1661K|NIN_ENST00000382043.4_Missense_Mutation_p.E948K|NIN_ENST00000324330.9_Missense_Mutation_p.E1661K	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1661					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAGAGAGCTCCGCCTCCAGA	0.408000			T	PDGFRB	MPD								23	74					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85436730	85436730	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:85436730G>A	ENST00000359152.5	-	1	2341	c.2342C>T	c.(2341-2343)tCa>tTa	p.S781L	SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.S257L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S257L	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	293	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGGAGAGGGTGAAGTTCCAGT	0.443000													41	96					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498945	75498945	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:75498945C>T	ENST00000360639.2	+	2	876	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	C15orf39_ENST00000567617.1_Silent_p.L186L|C15orf39_ENST00000394987.4_Silent_p.L186L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	186										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GGGCCAGACTCTGGATGGCAC	0.622000													6	68					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13785402	13785402	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:13785402G>T	ENST00000380567.1	+	21	3208	c.2337_splice	c.e21+1	p.R779_splice	OFD1_ENST00000380550.3_Splice_Site_p.R879_splice|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Splice_Site_p.R919_splice			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	919	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	p.R919M(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TATCAGGAAAGGGTAATAAGT	0.413000													102	98					5.97918e-35	7.22836e-35	1	1	0
DEPDC7	91614	broad.mit.edu	37	11	33049281	33049281	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:33049281G>C	ENST00000311388.3	+	3	863	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	DEPDC7_ENST00000241051.3_Missense_Mutation_p.E172Q	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	172					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						AGCCAGTTTAGAGGACCTGTG	0.383000													5	41					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38064147	38064147	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:38064147C>T	ENST00000250448.2	-	1	92	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	FOXA1_ENST00000540786.1_Intron	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	11					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCGCTGGTTTCATGCCCTTCC	0.682000													11	63					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76495954	76495954	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:76495954C>T	ENST00000307431.8	+	10	1817	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L430L|CNTNAP4_ENST00000478060.1_Silent_p.L406L|CNTNAP4_ENST00000476707.1_Silent_p.L482L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	479	Laminin G-like 2.				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						TGCTGCTCCTCTGCTGGGGCC	0.473000													5	65					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139399874	139399874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:139399874G>A	ENST00000277541.6	-	25	4549	c.4474C>T	c.(4474-4476)Cag>Tag	p.Q1492*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1492					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCAGAGACTGCGTGCAGTTC	0.612000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			5	41					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46719792	46719792	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:46719792C>T	ENST00000318962.4	-	16	1797	c.1714G>A	c.(1714-1716)Gac>Aac	p.D572N	ALS2CL_ENST00000415953.1_Missense_Mutation_p.D572N	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	572					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCAGCCGTGTCCAGCACACCC	0.637000													8	34					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519268	48519268	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:48519268A>T	ENST00000339841.2	+	4	505	c.327A>T	c.(325-327)aaA>aaT	p.K109N	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	109	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCGATGAGAAACAGCAGTGGA	0.532000													62	48					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132466654	132466654	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:132466654G>A	ENST00000333577.4	+	6	1777	c.1668G>A	c.(1666-1668)acG>acA	p.T556T	EP400_ENST00000330386.6_Silent_p.T520T|EP400_ENST00000389562.2_Silent_p.T519T|EP400_ENST00000389561.2_Silent_p.T520T|EP400_ENST00000332482.4_Silent_p.T483T			Q96L91	EP400_HUMAN	E1A binding protein p400	556					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGCCCCCCACGCCGCAGGCCG	0.587000													16	281					0	0	1	0	0
RPL39L	116832	broad.mit.edu	37	3	186838966	186838966	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:186838966C>T	ENST00000296277.4	-	3	525	c.123G>A	c.(121-123)agG>agA	p.R41R	RPL39L_ENST00000433055.1_Silent_p.R41R|RPL39L_ENST00000455270.1_Silent_p.R41R	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	41					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		TCCAATGCCTCCTTTTGGAGT	0.423000													43	282					0	0	1	0	0
GTF3C6	112495	broad.mit.edu	37	6	111281623	111281623	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:111281623G>C	ENST00000329970.7	+	3	355	c.145G>C	c.(145-147)Gac>Cac	p.D49H	GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	49						transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		GTAGGGCATTGACACTGAGAG	0.403000													6	37					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21726756	21726756	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:21726756G>C	ENST00000328843.6	+	34	5713	c.5682G>C	c.(5680-5682)atG>atC	p.M1894I	DNAH11_ENST00000409508.3_Missense_Mutation_p.M1887I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1894	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATCTAACCATGAGTGGGGCTC	0.423000									Kartagener syndrome				3	25					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409511	56409511	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:56409511G>T	ENST00000544374.1	-	1	436	c.408C>A	c.(406-408)ccC>ccA	p.P136P	OR5AP2_ENST00000302981.1_Silent_p.P135P			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GGTAGAGCAGGGGGTTCCAAA	0.502000													38	77					2.05212e-20	2.42117e-20	1	1	0
EME2	197342	broad.mit.edu	37	16	1826138	1826138	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:1826138G>A	ENST00000307394.7	+	8	1234	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	EME2_ENST00000568449.1_Missense_Mutation_p.E347K			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	353					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GCCGCCCAGTGAAGGCGGGCG	0.701000								Direct reversal of damage;Homologous recombination					16	84					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46563057	46563057	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:46563057C>G	ENST00000395905.3	-	8	1413	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	LRRC2_ENST00000296144.3_Missense_Mutation_p.D341H	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	341										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ACTTCTTTATCAAAATGTTGG	0.338000													3	16					0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76803613	76803613	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:76803613G>T	ENST00000338487.5	-	2	362	c.363C>A	c.(361-363)ctC>ctA	p.L121L		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	121	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGAAGACACTGAGGTCGAAGG	0.682000													31	82					5.43694e-19	6.37818e-19	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125192171	125192171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:125192171G>T	ENST00000431078.1	+	5	1004	c.640G>T	c.(640-642)Gga>Tga	p.G214*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	214	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAGCATGCAAGGAGATGGGGT	0.507000													10	60					7.48243e-07	8.00301e-07	1	1	0
C7orf63	79846	broad.mit.edu	37	7	89874847	89874847	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:89874847G>A	ENST00000389297.4	+	1	360	c.109G>A	c.(109-111)Gat>Aat	p.D37N	C7orf63_ENST00000316089.8_Missense_Mutation_p.D37N|C7orf63_ENST00000497910.1_Missense_Mutation_p.D37N|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	37							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GACGGAGGACGATGAGGCGCA	0.627000													53	224					0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45564707	45564707	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:45564707G>C	ENST00000355765.6	+	2	435	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	89					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAAAACTGTAGAAAATAATCC	0.363000													5	40					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147171	77147171	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:77147171G>A	ENST00000461745.1	+	2	968	c.68G>A	c.(67-69)cGt>cAt	p.R23H	ROBO2_ENST00000332191.8_Missense_Mutation_p.R23H|ROBO2_ENST00000487694.3_Missense_Mutation_p.R39H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	23					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTAGGATCGCGTCTTCGCCAG	0.507000													6	17					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124378829	124378829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:124378829C>T	ENST00000368909.3	+	39	4940	c.4834C>T	c.(4834-4836)Cag>Tag	p.Q1612*	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.Q1602*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.Q1602*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.Q984*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.Q984*|DMBT1_ENST00000338354.3_Nonsense_Mutation_p.Q1612*	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1612					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACAGCTGCTCAGTCCCAGTC	0.517000													37	112					0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40362110	40362110	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:40362110C>A	ENST00000344138.4	+	5	670	c.407C>A	c.(406-408)tCc>tAc	p.S136Y	GRAP2_ENST00000407075.3_Missense_Mutation_p.S136Y|GRAP2_ENST00000544756.1_Missense_Mutation_p.S64Y|GRAP2_ENST00000540310.1_Missense_Mutation_p.S70Y|GRAP2_ENST00000543252.1_Missense_Mutation_p.S96Y|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000399090.2_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	136	SH2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGGACAAATTCCATCTCCAGA	0.458000													36	52					6.53348e-20	7.68206e-20	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963769	88963769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:88963769C>A	ENST00000333190.4	+	4	2082	c.1473C>A	c.(1471-1473)gaC>gaA	p.D491E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	491						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAAGGAAGACCACAATCTAG	0.398000										HNSCC(36;0.09)			18	56					6.94344e-10	7.74837e-10	1	1	0
HIPK3	10114	broad.mit.edu	37	11	33308010	33308010	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:33308010C>T	ENST00000303296.4	+	2	355	c.50C>T	c.(49-51)tCa>tTa	p.S17L	HIPK3_ENST00000379016.3_Missense_Mutation_p.S17L|HIPK3_ENST00000456517.1_Missense_Mutation_p.S17L|HIPK3_ENST00000525975.1_Missense_Mutation_p.S17L	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	17					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CAAACTCAGTCAAGTGCCTTT	0.363000													5	39					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142548675	142548675	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:142548675C>T	ENST00000295992.3	-	6	1030	c.724G>A	c.(724-726)Gag>Aag	p.E242K	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	242	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCATTTCTCTCAGACACAATT	0.303000													11	143					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351520	36351520	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:36351520C>T	ENST00000360202.5	+	7	1077	c.879C>T	c.(877-879)gtC>gtT	p.V293V	KIRREL2_ENST00000592409.1_Silent_p.V293V|KIRREL2_ENST00000347900.6_Silent_p.V243V|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Silent_p.V293V|KIRREL2_ENST00000586102.2_Silent_p.V273V	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	293	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTGCGAGGTCAGCAACGCCG	0.672000													28	314					0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1828309	1828309	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:1828309G>A	ENST00000566339.1	-	4	648	c.318C>T	c.(316-318)gtC>gtT	p.V106V	SPSB3_ENST00000301717.4_Silent_p.V106V	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	106	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGTCATCCCAGACCCAGTCGA	0.632000													9	22					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66392567	66392567	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:66392567C>T	ENST00000310137.4	+	2	1359	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L	RBM14_ENST00000409738.4_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	407	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	p.S407L(1)	RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCCAGCCCTCGGCCTCTTAC	0.597000													25	145					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166901645	166901645	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:166901645C>T	ENST00000423058.2	-	10	1587	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	SCN1A_ENST00000375405.3_Missense_Mutation_p.E524K|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E524K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E524K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	524						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCCTCAGATTCAGATTTTTGG	0.443000													26	184					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180912	19180912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:19180912C>T	ENST00000375371.3	-	3	1073	c.1052G>A	c.(1051-1053)aGc>aAc	p.S351N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	351					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCTGGTCCTGCTGAGGGGTGG	0.632000													29	20					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609540	108609540	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:108609540G>T	ENST00000264047.2	+	4	681	c.405G>T	c.(403-405)ctG>ctT	p.L135L	SLC5A7_ENST00000540517.1_Silent_p.L30L|SLC5A7_ENST00000409059.1_Silent_p.L135L	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	135					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCCTGCACTGATGGGAGAAA	0.443000													11	51					1.08611e-07	1.17633e-07	1	1	0
TSGA10	80705	broad.mit.edu	37	2	99722065	99722065	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:99722065C>G	ENST00000393483.3	-	8	1150	c.306G>C	c.(304-306)gaG>gaC	p.E102D	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.E102D|TSGA10_ENST00000539964.1_Missense_Mutation_p.E102D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E102D|TSGA10_ENST00000542655.1_Missense_Mutation_p.E102D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	102					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CTCTTTCAGTCTCCACTCGCC	0.423000													25	147					0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16785432	16785432	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:16785432C>T	ENST00000443980.2	+	7	789	c.763C>T	c.(763-765)Cat>Tat	p.H255Y	NECAP2_ENST00000337132.5_3'UTR|NECAP2_ENST00000504551.2_3'UTR|NECAP2_ENST00000406746.1_3'UTR|NECAP2_ENST00000457722.2_3'UTR	NM_001145277.1	NP_001138749.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	257					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCTCCCTCATCTGGGCCA	0.572000													7	43					0	0	1	0	0
RND2	8153	broad.mit.edu	37	17	41180510	41180510	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:41180510C>G	ENST00000544533.1	+	5	607	c.500C>G	c.(499-501)tCt>tGt	p.S167C	RND2_ENST00000587250.2_Missense_Mutation_p.S166C	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN	Rho family GTPase 2	166					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCCCGGTCCTCTGAGCGCAGC	0.607000													18	75					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17406315	17406315	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:17406315A>G	ENST00000470360.1	+	6	898	c.781A>G	c.(781-783)Agt>Ggt	p.S261G	SLC7A2_ENST00000398090.3_Missense_Mutation_p.S261G|SLC7A2_ENST00000494857.1_Missense_Mutation_p.S221G|SLC7A2_ENST00000522656.1_Missense_Mutation_p.S221G|SLC7A2_ENST00000004531.10_Missense_Mutation_p.S261G			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	221					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGGAAGATTAGTGAAGAGTT	0.348000													36	55					0	0	1	0	0
RPS25	6230	broad.mit.edu	37	11	118888204	118888204	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:118888204C>G	ENST00000527673.1	-	3	556	c.151G>C	c.(151-153)Gac>Cac	p.D51H		NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	51					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GTAGCTTTGTCAAACAAGACT	0.428000													16	88					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226681	43226681	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:43226681G>C	ENST00000332499.2	+	1	1998	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	42					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGGGTGCCCGAGGAGGACAG	0.642000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	129					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31153107	31153107	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:31153107C>T	ENST00000268281.4	-	11	1754	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N	PRSS36_ENST00000569305.1_Missense_Mutation_p.D561N|PRSS36_ENST00000418068.2_Missense_Mutation_p.D566N	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	566					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGGCCCCAATCCCAGGCTAGC	0.622000													27	107					0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	158994512	158994512	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:158994512C>G	ENST00000367090.3	+	2	491	c.480C>G	c.(478-480)gtC>gtG	p.V160V		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	160					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TGTTTGTCGTCTTCTTCATCT	0.567000													4	15					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40936500	40936500	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:40936500C>A	ENST00000313164.9	+	5	700	c.341C>A	c.(340-342)gCt>gAt	p.A114D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	114	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAAGACAGTGCTGATGAAGAC	0.453000													18	61					5.3912e-06	5.68366e-06	1	1	0
TOP1MT	116447	broad.mit.edu	37	8	144399933	144399933	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:144399933G>C	ENST00000523676.1	-	11	1401	c.996C>G	c.(994-996)gcC>gcG	p.A332A	TOP1MT_ENST00000329245.4_Silent_p.A430A|TOP1MT_ENST00000519148.1_Silent_p.A332A|TOP1MT_ENST00000521193.1_Silent_p.A332A			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	430					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GAGTGATGGAGGCGTTGTAGG	0.657000													12	50					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105970443	105970443	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:105970443G>C	ENST00000255499.2	+	1	550	c.300G>C	c.(298-300)acG>acC	p.T100T	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	100	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ACCCGCACACGAATTTCACGG	0.662000													10	35					0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68265394	68265394	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:68265394G>C	ENST00000473183.2	-	11	2041	c.1503C>G	c.(1501-1503)ctC>ctG	p.L501L	ESRP2_ENST00000565858.1_Silent_p.L511L			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	511	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCTGCTGGTTGAGCACCATGT	0.557000													34	94					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283128	33283128	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:33283128G>C	ENST00000431845.2	-	2	1717	c.1566C>G	c.(1564-1566)ttC>ttG	p.F522L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.F522L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCTTCATCTTGAACTTTTTGT	0.552000													10	147					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169569483	169569483	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:169569483C>A	ENST00000316428.5	-	7	1140	c.1083G>T	c.(1081-1083)agG>agT	p.R361S	LRRC31_ENST00000523069.1_Missense_Mutation_p.R361S|LRRC31_ENST00000264676.5_Missense_Mutation_p.R305S	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	361										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AAAATCGGAGCCTGCTGAGTA	0.398000													42	80					5.59293e-11	6.31657e-11	1	1	0
NFXL1	152518	broad.mit.edu	37	4	47900019	47900019	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:47900019C>G	ENST00000507489.1	-	9	1345	c.1169G>C	c.(1168-1170)cGa>cCa	p.R390P	NFXL1_ENST00000329043.3_Missense_Mutation_p.R390P|NFXL1_ENST00000381538.3_Missense_Mutation_p.R390P	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	390						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTTCCCAGATCGAGGACATTC	0.358000													16	26					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37902034	37902034	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:37902034C>T	ENST00000309156.4	+	12	1520	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	GRB7_ENST00000394204.1_Silent_p.L421L|GRB7_ENST00000394209.2_Silent_p.L421L|GRB7_ENST00000394211.3_Silent_p.L421L|GRB7_ENST00000309185.3_Silent_p.L421L|GRB7_ENST00000445327.2_Silent_p.L444L	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	421					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCACGAGCCTCAGTGCAGGTG	0.647000													22	94					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45650895	45650895	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:45650895T>G	ENST00000267430.5	+	16	4458	c.4373T>G	c.(4372-4374)tTt>tGt	p.F1458C	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.F1432C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1458					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGCGCAGATTTCCTATAAAC	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	25					0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145154200	145154200	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:145154200G>A	ENST00000398712.2	-	6	1338	c.902C>T	c.(901-903)tCa>tTa	p.S301L		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	301	Interaction with SHANK1 (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGAGGAGCTGACAGCAAGTA	0.652000													33	61					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502655	12502655	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:12502655C>T	ENST00000419318.1	-	4	1210	c.461G>A	c.(460-462)aGa>aAa	p.R154K	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.R186K			Q96GE5	ZN799_HUMAN	zinc finger protein 799	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGCCATGTGTCTTTGAAGGTT	0.418000													45	45					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57193792	57193792	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:57193792G>T	ENST00000331162.4	-	4	465	c.195C>A	c.(193-195)atC>atA	p.I65I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCAGACAGGTGATCAAGTCTG	0.363000													16	69					4.35082e-09	4.80315e-09	1	1	0
POLRMT	5442	broad.mit.edu	37	19	629955	629955	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:629955C>A	ENST00000588649.2	-	3	491	c.407G>T	c.(406-408)cGt>cTt	p.R136L		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	136					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCGCTGCATACGCATCTGCTG	0.642000													16	32					3.52763e-06	3.72281e-06	1	1	0
SLX4IP	128710	broad.mit.edu	37	20	10603872	10603872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:10603872G>T	ENST00000334534.5	+	8	1252	c.1072G>T	c.(1072-1074)Gag>Tag	p.E358*		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		GTCTAAGGAAGAGTTGCATGT	0.433000													13	109					6.53275e-17	7.60309e-17	1	1	0
GUSB	2990	broad.mit.edu	37	7	65444836	65444836	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:65444836G>A	ENST00000304895.4	-	3	589	c.459C>T	c.(457-459)atC>atT	p.I153I	GUSB_ENST00000421103.1_Silent_p.I153I|GUSB_ENST00000345660.6_Silent_p.I153I|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	153					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCAGGTTGCTGATGTCGGCCT	0.647000													8	66					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19153654	19153654	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:19153654G>C	ENST00000269214.5	-	4	2088	c.1151C>G	c.(1150-1152)tCa>tGa	p.S384*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	384				S -> L (in Ref. 1; BAB67804).	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTTCTTGGCTGAGCTGTTTAT	0.358000													23	113					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148597633	148597633	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:148597633G>A	ENST00000296046.3	+	6	585	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	178					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATTCACGCACGAGAATGGGTC	0.408000													12	182					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68847300	68847300	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:68847300G>C	ENST00000261769.5	+	9	1413	c.1222G>C	c.(1222-1224)Gcg>Ccg	p.A408P	CDH1_ENST00000422392.2_Intron|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	408	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)|p.T406fs*6(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CAATACCCCAGCGTGGGAGGC	0.478000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				31	207					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273131	125273131	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:125273131C>A	ENST00000335302.5	+	1	51	c.51C>A	c.(49-51)ctC>ctA	p.L17L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTCTGGGCCTCCCCATCCGGC	0.567000													34	160					1.56738e-10	1.7663e-10	1	1	0
DHTKD1	55526	broad.mit.edu	37	10	12123626	12123626	+	Splice_Site	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:12123626G>C	ENST00000263035.4	+	2	372	c.310_splice	c.e2+1	p.G104_splice	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	104					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCACACGGCAGGTATGGCTTC	0.602000													12	59					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881413	26881413	+	Silent	SNP	C	C	G	rs145815030		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:26881413C>G	ENST00000231021.4	-	12	2374	c.2202G>C	c.(2200-2202)tcG>tcC	p.S734S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	734					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACGTTGCCAGCGAATCATATG	0.423000													47	116					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14020433	14020433	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:14020433G>C	ENST00000311895.7	+	3	413	c.404G>C	c.(403-405)aGa>aCa	p.R135T	ERCC4_ENST00000575156.1_Missense_Mutation_p.R135T	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	135					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTGGTGTATAGAGCCCACAGA	0.383000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				21	156					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021684	7021684	+	Silent	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:7021684T>C	ENST00000278314.4	-	3	1545	c.1230A>G	c.(1228-1230)ggA>ggG	p.G410G	ZNF214_ENST00000536068.1_Silent_p.G410G	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		AAGACTTCTCTCCTGTGTGTA	0.403000													14	108					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42748248	42748248	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:42748248C>T	ENST00000379274.2	+	12	1441	c.1012C>T	c.(1012-1014)Cca>Tca	p.P338S	DGKH_ENST00000337343.4_Missense_Mutation_p.P474S|DGKH_ENST00000540693.1_Missense_Mutation_p.P474S|DGKH_ENST00000538674.1_Missense_Mutation_p.P229S|DGKH_ENST00000536612.1_Missense_Mutation_p.P338S|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Missense_Mutation_p.P474S			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	474	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTCCCTACTTCCAGGACCTCC	0.363000													39	59					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841562	130841562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:130841562C>T	ENST00000245255.3	+	13	1776	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	502					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GATCTATACGCGAAGAAATTA	0.353000													20	59					0	0	1	0	0
AP2M1	1173	broad.mit.edu	37	3	183899826	183899826	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:183899826G>A	ENST00000382456.3	+	8	1262	c.948G>A	c.(946-948)caG>caA	p.Q316Q	AP2M1_ENST00000292807.5_Silent_p.Q318Q|AP2M1_ENST00000439647.1_Silent_p.Q316Q|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000411763.2_Silent_p.Q343Q|EIF2B5_ENST00000444495.1_Intron	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	318	MHD.				axon guidance|cellular membrane organization|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|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTGGCTCAGAAGATCGAGG	0.542000													5	44					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41016038	41016038	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:41016038C>G	ENST00000295974.8	-	6	1026	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	APBB2_ENST00000513140.1_Missense_Mutation_p.E133Q|APBB2_ENST00000508593.1_Missense_Mutation_p.E133Q|APBB2_ENST00000506352.1_Missense_Mutation_p.E133Q	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	133					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TCTAACTTCTCAGAAGTTATG	0.512000													25	45					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136562422	136562422	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:136562422C>G	ENST00000264162.2	-	10	4389	c.4379G>C	c.(4378-4380)gGa>gCa	p.G1460A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1460	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTGGTGGTTCCATCAGGGAG	0.562000													12	65					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940775	22940775	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:22940775C>T	ENST00000397104.3	-	5	1662	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E646K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGGGTTTCTCTCCAGTATGA	0.368000													8	143					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54823311	54823311	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:54823311G>C	ENST00000301219.3	-	4	351	c.232C>G	c.(232-234)Ctg>Gtg	p.L78V	LILRA5_ENST00000446712.3_Missense_Mutation_p.L66V|LILRA5_ENST00000432233.3_Missense_Mutation_p.L78V|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.L66V	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	78	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTTTAACCAGACGGTATTCC	0.597000													21	164					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63008574	63008574	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:63008574G>C	ENST00000561311.1	+	22	2909	c.2679G>C	c.(2677-2679)ctG>ctC	p.L893L	TLN2_ENST00000306829.6_Silent_p.L893L			Q9Y4G6	TLN2_HUMAN	talin 2	893	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCAAAGGCTGAGAGAAGCTG	0.502000													9	47					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42866316	42866316	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:42866316G>T	ENST00000334370.4	+	32	6229	c.5594G>T	c.(5593-5595)aGt>aTt	p.S1865I	MEGF8_ENST00000251268.6_Missense_Mutation_p.S1932I	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1932						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGGACCTGCAGTGAGTGCCTG	0.657000													13	14					5.50884e-06	5.79581e-06	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32632175	32632175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:32632175G>A	ENST00000242310.4	-	1	3492	c.3403C>T	c.(3403-3405)Cag>Tag	p.Q1135*		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1135					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.Q1135E(1)|p.Q1135*(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGTGACAGCTGAGAGCTGGTT	0.468000													79	85					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19408148	19408148	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:19408148A>G	ENST00000247001.5	-	8	1240	c.893T>C	c.(892-894)cTg>cCg	p.L298P	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	298					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GGGCTCATACAGAAAGCTGCA	0.582000													19	25					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52639544	52639544	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:52639544C>T	ENST00000355568.4	-	22	2265	c.2126G>A	c.(2125-2127)tGa>tAa	p.*709*		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	0							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGTAGACTATCACATCAGGAT	0.483000													7	107					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29220630	29220630	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:29220630G>A	ENST00000321990.4	+	21	5137	c.4759G>A	c.(4759-4761)Gat>Aat	p.D1587N		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1587					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGACTTTCCTGATCAATCTAT	0.378000													23	37					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744529	17744529	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:17744529C>G	ENST00000380060.3	+	6	2578	c.2240C>G	c.(2239-2241)tCa>tGa	p.S747*	NHS_ENST00000398097.3_Nonsense_Mutation_p.S591*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	747						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGTCTCCATCAGACAAAGCG	0.493000													61	52					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078703	170078703	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:170078703C>G	ENST00000458537.3	+	1	1293	c.584C>G	c.(583-585)tCa>tGa	p.S195*	SKIL_ENST00000259119.4_Nonsense_Mutation_p.S195*|SKIL_ENST00000426052.2_Nonsense_Mutation_p.S175*|SKIL_ENST00000413427.2_Nonsense_Mutation_p.S195*	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	195					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATATATTGTTCAAGGTGTACT	0.398000													10	192					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195423	78195423	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:78195423G>T	ENST00000361193.3	+	3	344	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	SLC26A11_ENST00000411502.3_Missense_Mutation_p.A22S|SLC26A11_ENST00000546047.2_Missense_Mutation_p.A22S|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Missense_Mutation_p.A22S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	22						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGCCCCGAGCGCCTGCTGCTG	0.692000													11	18					6.40141e-05	6.63993e-05	1	1	0
TKTL2	84076	broad.mit.edu	37	4	164393411	164393411	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:164393411C>G	ENST00000280605.3	-	1	1636	c.1476G>C	c.(1474-1476)gaG>gaC	p.E492D		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	492						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCTGGCCAATCTCAAAATTTT	0.463000													22	95					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121348870	121348870	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:121348870C>G	ENST00000260197.7	+	3	575	c.446C>G	c.(445-447)tCa>tGa	p.S149*	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	149					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)		AAGAAAATTTCAGACAAGTTA	0.438000													5	64					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86346742	86346742	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:86346742T>G	ENST00000355238.6	-	6	815	c.609A>C	c.(607-609)agA>agC	p.R203S	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R203S	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	203	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ACGCATAACCTCTATTGAGAC	0.408000													8	52					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75503331	75503331	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:75503331C>T	ENST00000360639.2	+	3	3338	c.3018C>T	c.(3016-3018)ttC>ttT	p.F1006F	C15orf39_ENST00000567617.1_3'UTR|C15orf39_ENST00000394987.4_Silent_p.F1006F			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	1006										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGGCCCGCTTCCGCAGTCTGC	0.667000													9	45					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2450626	2450626	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:2450626C>T	ENST00000378466.3	-	7	1003	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	PANK4_ENST00000435556.3_Missense_Mutation_p.V292M	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	331					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	p.V331M(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGCATGGTCACGGGGTGGCCC	0.607000													24	45					0	0	1	0	0
GJB7	375519	broad.mit.edu	37	6	87994526	87994526	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:87994526G>C	ENST00000525899.1	-	3	450	c.105C>G	c.(103-105)gtC>gtG	p.V35V	GJB7_ENST00000296882.3_Silent_p.V35V	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	35					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CCACCATGTAGACCAGCAAAC	0.473000													13	70					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618343	134618343	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:134618343G>A	ENST00000361675.2	+	5	1052	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000417172.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	275					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GTTGGAAGCAGAAGAAAGAGA	0.443000													4	29					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145152143	145152143	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:145152143G>C	ENST00000318911.4	+	7	955	c.882G>C	c.(880-882)atG>atC	p.M294I		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	294					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGATGTTGATGATGATGGCTC	0.592000													17	33					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106691826	106691826	+	RNA	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:106691826C>T	ENST00000390607.2	-	0	276																											TGGATGAGACCCACTCCAGCC	0.532000													48	132					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150715823	150715823	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:150715823G>A	ENST00000605938.1	-	6	1677	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	ATG9B_ENST00000377974.2_Silent_p.F534F|ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000494791.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	534					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCACCCGCGAAGAAAACGA	0.741000													9	17					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048391	6048391	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:6048391C>G	ENST00000316650.5	-	1	580	c.544G>C	c.(544-546)Gag>Cag	p.E182Q		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCAGTTCTCAATGACATTT	0.488000													24	144					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1087943	1087943	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:1087943C>T	ENST00000441003.2	+	25	3445	c.3418C>T	c.(3418-3420)Cgg>Tgg	p.R1140W	MUC2_ENST00000359061.5_Missense_Mutation_p.R1140W	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1140						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ATGTGGGAACCGGAGCTTCGA	0.612000													12	28					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43411980	43411980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:43411980G>T	ENST00000244533.3	+	10	2853	c.2494G>T	c.(2494-2496)Gaa>Taa	p.E832*	ABCC10_ENST00000372530.4_Nonsense_Mutation_p.E860*	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	860						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCTGCTGCAGGAAGAAAGCAA	0.587000													10	36					1.76689e-08	1.93195e-08	1	1	0
OR4C3	256144	broad.mit.edu	37	11	48346777	48346777	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:48346777C>A	ENST00000319856.4	+	1	306	c.285C>A	c.(283-285)gaC>gaA	p.D95E		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCTTTATTGACACCTTTTATT	0.473000													12	182					1.02788e-11	1.16471e-11	1	1	0
GEMIN4	50628	broad.mit.edu	37	17	648672	648672	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:648672G>A	ENST00000576778.1	-	1	3919	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	GEMIN4_ENST00000319004.5_Missense_Mutation_p.R871C			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	871					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGTGAAGGCGCTGCCACTCC	0.567000													16	56					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50699459	50699459	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:50699459C>T	ENST00000404971.1	-	17	4680	c.3341G>A	c.(3340-3342)gGa>gAa	p.G1114E	NRXN1_ENST00000402717.3_Missense_Mutation_p.G1066E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G1074E|NRXN1_ENST00000401710.1_Missense_Mutation_p.G83E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1074E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1066E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G1074E	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1074	EGF-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G1115V(1)|p.G1114V(1)|p.G1074V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCGATCTGTCCGTTGCAGAA	0.438000													5	34					0	0	1	0	0
TMEM41B	440026	broad.mit.edu	37	11	9305015	9305015	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:9305015G>A	ENST00000528080.1	-	7	1170	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	278						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		ATGGCTGGCAGAATAGAAAGA	0.363000													10	19					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135346333	135346333	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:135346333C>T	ENST00000463117.2	+	7	1058	c.786C>T	c.(784-786)ccC>ccT	p.P262P	CYP2E1_ENST00000252945.3_Silent_p.P262P|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	262					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CCAACTGTCCCCGGGACCTCA	0.532000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				15	51					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623037	20623037	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:20623037C>A	ENST00000525748.1	+	2	639	c.366C>A	c.(364-366)atC>atA	p.I122I		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	122					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACTGTAAGATCCCTTTTCTGC	0.677000													9	25					2.74318e-10	3.07451e-10	1	1	0
ZNF460	10794	broad.mit.edu	37	19	57802323	57802323	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:57802323G>A	ENST00000360338.3	+	3	736	c.414G>A	c.(412-414)atG>atA	p.M138I	ZNF460_ENST00000537645.1_Missense_Mutation_p.M97I	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTGTTCAATGATGATACAGA	0.428000													60	83					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48713203	48713203	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:48713203C>T	ENST00000236495.5	+	15	2159	c.2109C>T	c.(2107-2109)ggC>ggT	p.G703G	SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.G699G|SLC5A9_ENST00000438567.2_Silent_p.G678G	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	678						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCCTCTGGGGCTATTTTGCGT	0.488000													24	78					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44447397	44447397	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:44447397C>T	ENST00000356836.6	+	3	1140	c.350C>T	c.(349-351)cCc>cTc	p.P117L	B4GALT2_ENST00000309519.7_Missense_Mutation_p.P146L|B4GALT2_ENST00000372324.1_Missense_Mutation_p.P117L|B4GALT2_ENST00000434555.2_Intron	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	117					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TCACCCATGCCCCTGGAGCGG	0.642000													38	90					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232390095	232390095	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:232390095G>A	ENST00000305141.4	-	3	1073	c.940C>T	c.(940-942)Cac>Tac	p.H314Y		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	314					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGTCGGCGTGGAACGGGGCC	0.647000													17	62					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115380468	115380468	+	Splice_Site	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:115380468C>T	ENST00000369358.4	-	25	3038		c.e25-1		NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000360478.3_Splice_Site|NRAP_ENST00000369360.3_Splice_Site			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein							fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGTATTGGTTCTGACAAAGGA	0.488000													22	77					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9604539	9604539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:9604539C>T	ENST00000570827.2	+	11	1780	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	USP43_ENST00000285199.6_Nonsense_Mutation_p.Q547*|USP43_ENST00000570475.1_Nonsense_Mutation_p.Q547*			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	547					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGAATGTTTTCAGTTCTACAC	0.657000													3	16					0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48248932	48248932	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:48248932G>C	ENST00000246802.5	+	1	154	c.116G>C	c.(115-117)cGa>cCa	p.R39P	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	39						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CGGCGGCGGCGAGGCCCAAGA	0.667000													14	79					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934817	9934817	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:9934817A>T	ENST00000396573.2	-	7	1782	c.1473T>A	c.(1471-1473)aaT>aaA	p.N491K	GRIN2A_ENST00000330684.3_Missense_Mutation_p.N491K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N491K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N334K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N491K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.N491K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	491					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATTCCACACATTGTTAACTT	0.433000													26	95					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49641658	49641658	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:49641658C>T	ENST00000334186.4	+	16	2399	c.2050C>T	c.(2050-2052)Cct>Tct	p.P684S	PPFIA3_ENST00000602351.1_Missense_Mutation_p.P684S	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	684						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACCCCCTAGCCCTGCCCGTGA	0.677000													14	79					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25060419	25060419	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:25060419C>T	ENST00000381989.3	-	11	1344	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	413	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTCTAAATATCTGCAAGACAT	0.378000													6	33					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682607	100682607	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:100682607G>T	ENST00000306151.4	+	3	7974	c.7910G>T	c.(7909-7911)aGt>aTt	p.S2637I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2637	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCATTAACAAGTATACTTGTC	0.468000													133	106					4.9668e-63	6.04705e-63	1	1	0
FBXL2	25827	broad.mit.edu	37	3	33415414	33415414	+	Splice_Site	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:33415414G>T	ENST00000484457.1	+	9	748		c.e9+1		FBXL2_ENST00000283627.6_Splice_Site|FBXL2_ENST00000542085.1_Splice_Site|FBXL2_ENST00000538892.1_Splice_Site|FBXL2_ENST00000538181.1_Splice_Site|FBXL2_ENST00000507198.1_Splice_Site|FBXL2_ENST00000446237.3_Splice_Site	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2						interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTCCTGCTCAGTAAGTAGCGT	0.498000													12	33					1.61879e-10	1.81827e-10	1	1	0
CSTF2T	23283	broad.mit.edu	37	10	53458392	53458392	+	Missense_Mutation	SNP	C	C	A	rs141454087		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:53458392C>A	ENST00000331173.4	-	1	963	c.918G>T	c.(916-918)caG>caT	p.Q306H	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	306	Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GATCTGACATCTGCACTTGTC	0.587000													17	131					1.56452e-12	1.78062e-12	1	1	0
GPX1	2876	broad.mit.edu	37	3	49395531	49395531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:49395531C>A	ENST00000419783.1	-	1	502	c.181G>T	c.(181-183)Gag>Tag	p.E61*	GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Nonsense_Mutation_p.E61*	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	61					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CGCTGCAGCTCGTTCATCTGG	0.697000													5	15					0.0293803	0.0295525	1	1	0
SPG11	80208	broad.mit.edu	37	15	44889035	44889035	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:44889035C>T	ENST00000261866.7	-	24	4124	c.4108G>A	c.(4108-4110)Gat>Aat	p.D1370N	SPG11_ENST00000427534.2_Missense_Mutation_p.D1370N|SPG11_ENST00000535302.2_Missense_Mutation_p.D1370N|SPG11_ENST00000558319.1_Missense_Mutation_p.D1370N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1370					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGCAGCCAATCATTTGCTTTG	0.433000													8	48					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2873565	2873565	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:2873565C>T	ENST00000545496.1	-	5	565	c.274G>A	c.(274-276)Gac>Aac	p.D92N	ARSE_ENST00000540563.1_Missense_Mutation_p.D22N|ARSE_ENST00000381134.3_Missense_Mutation_p.D67N			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	67					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAAGGCGGTCAATATTCGGA	0.488000													8	7					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906516	129906516	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:129906516C>T	ENST00000368654.3	-	13	3963	c.3588G>A	c.(3586-3588)caG>caA	p.Q1196Q	MKI67_ENST00000368653.3_Silent_p.Q836Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1196	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGTCCAGTTTCTGCACTGGAG	0.493000													16	130					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721207	135721207	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:135721207G>A	ENST00000264977.3	+	2	1484	c.867G>A	c.(865-867)ctG>ctA	p.L289L	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	289					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CATCCTATCTGAAAAAGTTAC	0.373000													60	86					0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35737843	35737843	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:35737843C>T	ENST00000378094.4	-	16	2920	c.2407G>A	c.(2407-2409)Ggg>Agg	p.G803R	GBA2_ENST00000378088.1_Missense_Mutation_p.G104R|GBA2_ENST00000545786.1_Missense_Mutation_p.G809R|GBA2_ENST00000378103.3_Missense_Mutation_p.G803R			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	803					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCTGCATCCCATTCACAGCC	0.562000													13	117					0	0	1	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11105287	11105287	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:11105287A>G	ENST00000472091.1	-	2	632	c.257T>C	c.(256-258)aTg>aCg	p.M86T	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.M86T	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		86						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TGCAGGCCTCATCAGTCCTTT	0.453000													61	69					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349494	58349494	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:58349494G>C	ENST00000371015.1	+	7	1590	c.1123G>C	c.(1123-1125)Gac>Cac	p.D375H	PHACTR3_ENST00000359926.3_Missense_Mutation_p.D372H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D264H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.D334H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D264H|PHACTR3_ENST00000395636.2_Missense_Mutation_p.D334H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D334H	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	375						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			ACTCAAAGACGACTTGCTTTT	0.498000													40	116					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58979759	58979759	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:58979759C>A	ENST00000361050.3	-	1	665	c.580G>T	c.(580-582)Gca>Tca	p.A194S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	194	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGGAGTTCTGCCAGGTAGGTG	0.542000													38	122					1.8453e-21	2.18466e-21	1	1	0
SPG11	80208	broad.mit.edu	37	15	44890865	44890865	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:44890865C>G	ENST00000261866.7	-	22	3872	c.3856G>C	c.(3856-3858)Gaa>Caa	p.E1286Q	SPG11_ENST00000427534.2_Missense_Mutation_p.E1286Q|SPG11_ENST00000535302.2_Missense_Mutation_p.E1286Q|SPG11_ENST00000558319.1_Missense_Mutation_p.E1286Q	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1286					cell death	cytosol|integral to membrane|nucleus	protein binding	p.E1286*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGAGCATCTTCATTTCTGCAC	0.418000													13	47					0	0	1	0	0
AEN	64782	broad.mit.edu	37	15	89169978	89169978	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:89169978G>C	ENST00000332810.3	+	2	689	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	AEN_ENST00000379231.3_Missense_Mutation_p.E180Q	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	180	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GGCCCAGAAAGAGGTAAGGGC	0.592000													7	25					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213242	9213242	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:9213242C>T	ENST00000305456.2	-	1	740	c.741G>A	c.(739-741)ttG>ttA	p.L247L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						ATGGCATTCTCAAAACACAGG	0.443000													35	55					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65429344	65429344	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:65429344G>A	ENST00000304895.4	-	11	1885	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	GUSB_ENST00000421103.1_Silent_p.L439L|GUSB_ENST00000345660.6_Silent_p.L534L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	585					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AATTCCAAATGAGCTCTCCAA	0.443000													15	129					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188477963	188477963	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:188477963C>G	ENST00000312675.4	+	8	1549	c.1303C>G	c.(1303-1305)Cag>Gag	p.Q435E	LPP_ENST00000543006.1_Missense_Mutation_p.Q435E|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	435	LIM zinc-binding 1.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TGCCATGGATCAGGTCTTCCA	0.502000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								10	125					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37901538	37901538	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:37901538C>T	ENST00000309156.4	+	10	1311	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	GRB7_ENST00000394204.1_Missense_Mutation_p.R352C|GRB7_ENST00000394209.2_Missense_Mutation_p.R352C|GRB7_ENST00000394211.3_Missense_Mutation_p.R352C|GRB7_ENST00000309185.3_Missense_Mutation_p.R352C|GRB7_ENST00000445327.2_Missense_Mutation_p.R375C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	352					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCACAGTCTCGCCATCTGCA	0.612000													7	86					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233166	28233166	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:28233166C>T	ENST00000305242.5	-	12	1820	c.1728G>A	c.(1726-1728)ggG>ggA	p.G576G	ARMC4_ENST00000537576.1_Silent_p.G268G|ARMC4_ENST00000545014.1_Silent_p.G101G	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	576							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						TGGTGATACCCCCGTGCTGCC	0.532000													7	15					0	0	1	0	0
COMMD6	170622	broad.mit.edu	37	13	76104360	76104360	+	Missense_Mutation	SNP	C	C	G	rs149125057		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:76104360C>G	ENST00000377615.3	-	4	261	c.97G>C	c.(97-99)Gac>Cac	p.D33H	COMMD6_ENST00000406936.3_Missense_Mutation_p.D33H|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000377619.5_Missense_Mutation_p.D48H|COMMD6_ENST00000355801.4_Missense_Mutation_p.D33H			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	33	COMM.					cytoplasm|nucleus	protein binding			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		CTGCAAGTGTCTGAGCTCACA	0.393000													14	86					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29301256	29301256	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:29301256G>C	ENST00000378993.1	+	3	957	c.284G>C	c.(283-285)aGa>aCa	p.R95T	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R95T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	95	Ig-like C2-type 1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GACGGAAGTAGAATGAGCAAA	0.448000													14	31					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785290	1785290	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:1785290G>C	ENST00000539485.1	-	27	3663	c.3430C>G	c.(3430-3432)Ctt>Gtt	p.L1144V	ATP8B3_ENST00000310127.6_Missense_Mutation_p.L1134V|ATP8B3_ENST00000525591.1_Missense_Mutation_p.L1097V			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1134					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TTGATGATAAGAATGACCTGG	0.612000													9	7					0	0	1	0	0
GLRX2	51022	broad.mit.edu	37	1	193065773	193065773	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:193065773C>T	ENST00000367440.3	-	4	955	c.480G>A	c.(478-480)aaG>aaA	p.K160K	GLRX2_ENST00000367439.3_Silent_p.K159K	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	159					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	ATTCTTTCCTCTTACTTTTTT	0.333000													7	21					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245027132	245027132	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:245027132C>T	ENST00000444376.2	-	1	712	c.478G>A	c.(478-480)Gag>Aag	p.E160K	HNRNPU_ENST00000283179.9_Missense_Mutation_p.E160K	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	160	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GGCTGCTGCTCCCCGTGCCCG	0.701000													8	19					0	0	1	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246807	43246807	+	Silent	SNP	C	C	T	rs146054495		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:43246807C>T	ENST00000307275.3	+	4	928	c.492C>T	c.(490-492)atC>atT	p.I164I	HEXIM2_ENST00000591576.1_Silent_p.I164I|HEXIM2_ENST00000592695.1_Silent_p.I164I|RP13-890H12.2_ENST00000589796.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	164					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						CCCATGGGATCTCCCACCCAG	0.632000													11	51					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160585678	160585678	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:160585678G>C	ENST00000259050.3	+	2	267	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	MARCH7_ENST00000539065.1_Missense_Mutation_p.E49Q|MARCH7_ENST00000409175.1_Missense_Mutation_p.E49Q|MARCH7_ENST00000473749.1_3'UTR	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	49	Ser-rich.						ligase activity|zinc ion binding	p.E49Q(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ATTGGATTCTGAATATCAGGT	0.368000													10	41					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48713202	48713202	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:48713202G>A	ENST00000236495.5	+	15	2158	c.2108G>A	c.(2107-2109)gGc>gAc	p.G703D	SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G699D|SLC5A9_ENST00000438567.2_Missense_Mutation_p.G678D	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	678						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TTCCTCTGGGGCTATTTTGCG	0.488000													24	80					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963770	88963770	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:88963770C>T	ENST00000333190.4	+	4	2083	c.1474C>T	c.(1474-1476)Cac>Tac	p.H492Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	492						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAGGAAGACCACAATCTAGA	0.393000										HNSCC(36;0.09)			17	56					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26426663	26426663	+	RNA	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:26426663C>T	ENST00000466808.2	+	0	979																											CAGCTGTGATCATCAGAGACA	0.532000													43	98					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217142540	217142540	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:217142540G>C	ENST00000273067.4	-	3	2486	c.720C>G	c.(718-720)gcC>gcG	p.A240A		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	240						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCAGGATGGCGGCTGCAACCT	0.562000													30	80					0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41625161	41625161	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:41625161C>G	ENST00000260359.6	+	1	270	c.6C>G	c.(4-6)atC>atG	p.I2M	NUSAP1_ENST00000414849.2_Missense_Mutation_p.I2M|NUSAP1_ENST00000560747.1_Missense_Mutation_p.I2M|NUSAP1_ENST00000450318.1_Missense_Mutation_p.I2M|NUSAP1_ENST00000560177.1_Missense_Mutation_p.I2M|NUSAP1_ENST00000559596.1_Missense_Mutation_p.I2M|NUSAP1_ENST00000450592.2_Missense_Mutation_p.I2M|NUSAP1_ENST00000558123.1_3'UTR	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	2					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		TCGCGATGATCATCCCCTCTC	0.562000													3	15					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100849607	100849607	+	Silent	SNP	C	C	T	rs147711395	byFrequency	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:100849607C>T	ENST00000223127.3	-	19	2570	c.2172G>A	c.(2170-2172)acG>acA	p.T724T		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	724	Fe2OG dioxygenase.				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGCCCCAGGTCGTTGGCAGCC	0.637000													19	128					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6015494	6015494	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:6015494C>G	ENST00000259569.5	-	1	124	c.114G>C	c.(112-114)gaG>gaC	p.E38D	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	38					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CATAGATTTCCTCTGCTTGCC	0.493000													23	172					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25831393	25831393	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:25831393C>T	ENST00000381801.5	-	9	1797	c.1036G>A	c.(1036-1038)Gtt>Att	p.V346I	MTMR6_ENST00000540661.1_Missense_Mutation_p.V346I	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	346	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		AGGGAACAAACCTGGGAAGTC	0.398000													27	30					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43410855	43410855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:43410855G>T	ENST00000244533.3	+	8	2649	c.2290G>T	c.(2290-2292)Gac>Tac	p.D764Y	ABCC10_ENST00000372530.4_Missense_Mutation_p.D792Y	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	792	ABC transporter 1.			L -> P (in Ref. 1; AAK39642).		integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAGAGGGCTGACGCGGTGCT	0.657000													16	55					3.52763e-06	3.72281e-06	1	1	0
ZNF778	197320	broad.mit.edu	37	16	89294956	89294956	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:89294956G>C	ENST00000433976.2	+	6	2508	c.2176G>C	c.(2176-2178)Gag>Cag	p.E726Q	ZNF778_ENST00000306502.6_Missense_Mutation_p.E684Q|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	726					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TCACACTGATGAGAAACCTTT	0.393000													6	85					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139895355	139895355	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:139895355C>A	ENST00000303045.6	-	2	507	c.61G>T	c.(61-63)Ggg>Tgg	p.G21W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G21W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	21					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)			CCGCCGCCCCCACTCCACAGC	0.677000										HNSCC(7;0.00092)			4	11					0.0215528	0.0217215	1	1	0
PLEKHG3	26030	broad.mit.edu	37	14	65194490	65194490	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:65194490G>C	ENST00000247226.7	+	2	449	c.141G>C	c.(139-141)aaG>aaC	p.K47N	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.K47N	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	47	Ser-rich.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTCCCGCCAAGAATGGGGCAG	0.647000													8	62					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514719	50514719	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:50514719C>A	ENST00000419119.1	-	2	1820	c.267G>T	c.(265-267)ttG>ttT	p.L89F	FIGNL1_ENST00000395556.2_Missense_Mutation_p.L89F|FIGNL1_ENST00000356889.4_Missense_Mutation_p.L89F|FIGNL1_ENST00000433017.1_Missense_Mutation_p.L89F|FIGNL1_ENST00000435566.1_Intron			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	89					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GAGATCCTGCCAAAGTTAAAA	0.338000													9	47					1.12685e-05	1.17953e-05	1	1	0
UBA6	55236	broad.mit.edu	37	4	68530954	68530954	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:68530954G>C	ENST00000322244.4	-	10	909	c.850C>G	c.(850-852)Cat>Gat	p.H284D	UBA6_ENST00000420827.2_Missense_Mutation_p.H284D	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	284					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATGCCTCCATGTAAATATGGT	0.308000													17	62					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215297988	215297988	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:215297988G>T	ENST00000444842.2	+	3	520	c.370G>T	c.(370-372)Gca>Tca	p.A124S	KCNK2_ENST00000391895.2_Missense_Mutation_p.A120S|KCNK2_ENST00000391894.2_Missense_Mutation_p.A109S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	124							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)	AATAGTGGCAGCAATAAATGC	0.383000													40	104					9.62906e-15	1.10815e-14	1	1	0
ZNF511	118472	broad.mit.edu	37	10	135122932	135122932	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:135122932G>T	ENST00000359035.3	+	2	195	c.192G>T	c.(190-192)gtG>gtT	p.V64V	ZNF511_ENST00000361518.5_Silent_p.V64V|ZNF511_ENST00000368554.4_5'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TCCAGGACGTGATCATGCAGG	0.682000													6	23					1.06961e-07	1.15969e-07	1	1	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371493	114371493	+	RNA	SNP	C	C	T	rs12351897	by1000genomes	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:114371493C>T	ENST00000374304.1	-	0	306																											CTTCTCACATCGTTGTTGGGG	0.502000													6	104					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157413936	157413936	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:157413936G>T	ENST00000310454.6	+	9	1379	c.1007G>T	c.(1006-1008)aGt>aTt	p.S336I	GPD2_ENST00000409674.1_Missense_Mutation_p.S336I|GPD2_ENST00000438166.2_Missense_Mutation_p.S336I|GPD2_ENST00000540309.1_Missense_Mutation_p.S336I|GPD2_ENST00000409125.4_Missense_Mutation_p.S109I	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	336					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CCAGCGACCAGTGATGGGCGA	0.428000													12	29					1.5842e-08	1.73588e-08	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33572681	33572681	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:33572681G>C	ENST00000321505.4	+	4	2886	c.2706G>C	c.(2704-2706)ctG>ctC	p.L902L	KIAA1549L_ENST00000265654.5_Silent_p.L908L|KIAA1549L_ENST00000389726.3_Silent_p.L908L					KIAA1549-like																		TCGAAATGCTGGGTGTGTATG	0.488000													62	113					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77710993	77710993	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:77710993C>T	ENST00000328313.5	+	4	1401	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	394					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATGTGCCGGCTGCTGGGCAT	0.652000													14	27					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44376295	44376295	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:44376295G>C	ENST00000371477.3	+	8	1317	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	340	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTTTTGTCTGAGTACAATGT	0.463000													15	91					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388558	56388558	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:56388558G>A	ENST00000355701.3	-	19	3968	c.3098C>T	c.(3097-3099)tCa>tTa	p.S1033L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.S1033L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.S973L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1033	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCGTGGGTGAGGCCACCTC	0.637000													3	21					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419714	5419714	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:5419714C>T	ENST00000341928.2	-	12	1842	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G519E|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G519E|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G519E|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G501E|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	501	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTATACCTTTCCCTCGTGCCG	0.542000													12	98					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101587471	101587471	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:101587471C>T	ENST00000536262.2	-	5	1182	c.624G>A	c.(622-624)gtG>gtA	p.V208V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	208					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTGCATCACCACAGCCTGTA	0.418000													76	76					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182409477	182409477	+	Silent	SNP	G	G	T	rs139300604	by1000genomes	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:182409477G>T	ENST00000410087.3	-	11	1415	c.1315C>A	c.(1315-1317)Cgg>Agg	p.R439R	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Silent_p.R421R|CERKL_ENST00000374969.2_Silent_p.R326R|CERKL_ENST00000374970.2_Silent_p.R370R|CERKL_ENST00000339098.5_Silent_p.R465R	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	465					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AATTCTGGCCGAGAAGTGTTT	0.284000													12	16					0.00136819	0.00139806	1	1	0
F8	2157	broad.mit.edu	37	X	154156964	154156964	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:154156964C>T	ENST00000360256.4	-	14	5301	c.5101G>A	c.(5101-5103)Gag>Aag	p.E1701K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1701			E -> K (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTTCATCCTCATCATAAATG	0.408000													14	69					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2799686	2799686	+	Splice_Site	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:2799686G>A	ENST00000307741.6	+	5	689		c.e5-1		THOP1_ENST00000586677.1_Splice_Site	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1						proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TTTCTCTCCAGAACATCAAAC	0.617000													27	41					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350371	89350371	+	Missense_Mutation	SNP	G	G	A	rs145730800		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:89350371G>A	ENST00000301030.4	-	9	3039	c.2579C>T	c.(2578-2580)tCg>tTg	p.S860L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S860L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	860	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTCACTGGCGAGTCCCAGCT	0.537000													15	82					0	0	1	0	0
UBE2T	29089	broad.mit.edu	37	1	202304862	202304862	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:202304862C>G	ENST00000367274.4	-	2	170	c.21G>C	c.(19-21)ctG>ctC	p.L7L		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	7					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|skin(1)	5						GCTCTCTCTTCAGACGTGAAG	0.512000													8	85					0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135053643	135053643	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:135053643G>T	ENST00000325980.9	+	3	1121	c.610G>T	c.(610-612)Ggt>Tgt	p.G204C		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	204					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CTCCTTCTGGGGTCTCTGCCA	0.687000													8	18					0.000157383	0.000162756	1	1	0
SNAP23	8773	broad.mit.edu	37	15	42820509	42820509	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:42820509G>A	ENST00000249647.3	+	6	784	c.316G>A	c.(316-318)Ggt>Agt	p.G106S	SNAP23_ENST00000397138.1_Intron|SNAP23_ENST00000349777.1_Intron|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	106					cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		ATGGGGAGATGGTGGAGAAAA	0.458000													10	32					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107691491	107691491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:107691491C>T	ENST00000445937.1	+	4	535	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	OXR1_ENST00000517566.2_Nonsense_Mutation_p.Q92*|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000442977.2_Nonsense_Mutation_p.Q93*|OXR1_ENST00000312046.6_Nonsense_Mutation_p.Q85*|OXR1_ENST00000497705.1_Nonsense_Mutation_p.Q25*|OXR1_ENST00000531443.1_Nonsense_Mutation_p.Q92*	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	93					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AATGTCTTTTCAGAAACCTAA	0.333000													7	77					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156917428	156917428	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:156917428G>T	ENST00000257527.4	-	19	2208	c.2130C>A	c.(2128-2130)gcC>gcA	p.A710A	ADAM19_ENST00000394020.1_Silent_p.A712A|ADAM19_ENST00000517905.1_Silent_p.A710A|ADAM19_ENST00000430702.2_Silent_p.A443A	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	710					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCACCAAGATGGCCACCAACA	0.522000													34	115					4.65686e-17	5.42598e-17	1	1	0
GK5	256356	broad.mit.edu	37	3	141896419	141896419	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:141896419C>A	ENST00000392993.2	-	12	1200		c.e12-1			NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)						glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GTGAAAAGGTCTGCAAAAACA	0.358000													16	170					9.16793e-09	1.00779e-08	1	1	0
MAST2	23139	broad.mit.edu	37	1	46500717	46500717	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:46500717C>T	ENST00000361297.2	+	29	4659	c.4376C>T	c.(4375-4377)tCt>tTt	p.S1459F	MAST2_ENST00000372009.2_Missense_Mutation_p.S1269F|MAST2_ENST00000372008.1_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1459					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGTGTGCTGTCTGGCAAGGGG	0.662000													10	59					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395288	115395288	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:115395288C>A	ENST00000393780.3	+	3	1035	c.567C>A	c.(565-567)tcC>tcA	p.S189S	GAP43_ENST00000305124.6_Silent_p.S153S	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	153					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ACTCGCCGTCCTCCAAGGCTG	0.612000													35	36					9.88483e-10	1.10188e-09	1	1	0
HIST1H2BH	8345	broad.mit.edu	37	6	26251947	26251947	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:26251947G>A	ENST00000356350.2	+	1	69	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	23					nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q23H(1)|p.Q23Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CCAAGGCGCAGAAGAAGGATG	0.552000													47	94					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119348297	119348297	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:119348297G>A	ENST00000273371.4	+	11	1425	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L	PLA1A_ENST00000495992.1_Silent_p.L435L|PLA1A_ENST00000494440.1_Silent_p.L435L|PLA1A_ENST00000488919.1_Silent_p.L278L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	451	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGTGACCTGAAGATAGCCT	0.453000													29	49					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9767702	9767702	+	Silent	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:9767702T>C	ENST00000383832.3	+	18	1501	c.1311T>C	c.(1309-1311)tcT>tcC	p.S437S	CPNE9_ENST00000383831.3_Silent_p.S437S	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	437	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GGGTCATCTCTGACATGACGC	0.527000													45	51					0	0	1	0	0
KCNAB2	8514	broad.mit.edu	37	1	6154523	6154523	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:6154523G>A	ENST00000164247.1	+	11	1130	c.566G>A	c.(565-567)cGc>cAc	p.R189H	KCNAB2_ENST00000378092.1_Missense_Mutation_p.R175H|KCNAB2_ENST00000602612.1_Missense_Mutation_p.R189H|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000458166.2_Missense_Mutation_p.R122H|KCNAB2_ENST00000378083.3_Missense_Mutation_p.R237H|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378097.1_Missense_Mutation_p.R189H|KCNAB2_ENST00000352527.1_Missense_Mutation_p.R175H|KCNAB2_ENST00000341524.1_Missense_Mutation_p.R189H	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	189						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GGCACGTCACGCTGGAGCTCC	0.632000													3	11					0	0	1	0	0
PPP1R11	6992	broad.mit.edu	37	6	30035194	30035194	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:30035194G>A	ENST00000376772.3	+	1	330	c.7G>A	c.(7-9)Gag>Aag	p.E3K	PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376773.1_Intron	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	3						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AGCCATGGCCGAGGCAGGGGC	0.607000													26	85					0	0	1	0	0
METTL10	399818	broad.mit.edu	37	10	126477650	126477650	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:126477650C>G	ENST00000494792.1	-	3	146	c.147G>C	c.(145-147)ttG>ttC	p.L49F	METTL10_ENST00000368836.2_Missense_Mutation_p.D85H																							GTTCCAATATCAAGCACTGAA	0.353000													4	52					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37566025	37566025	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:37566025G>T	ENST00000300651.6	-	17	2672	c.2449C>A	c.(2449-2451)Cag>Aag	p.Q817K	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	817	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGGGTACTCTGAGAATGCCCA	0.453000										HNSCC(31;0.082)			14	70					9.05144e-12	1.02789e-11	1	1	0
GAD2	2572	broad.mit.edu	37	10	26581916	26581916	+	Missense_Mutation	SNP	C	C	G	rs149742560	byFrequency	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:26581916C>G	ENST00000376261.3	+	15	2083	c.1580C>G	c.(1579-1581)tCg>tGg	p.S527W	GAD2_ENST00000259271.3_Missense_Mutation_p.S527W	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	527					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AGTCGCCTCTCGAAGGTCAGT	0.473000													26	174					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503858	47503858	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:47503858G>A	ENST00000404338.3	+	6	4413	c.4413G>A	c.(4411-4413)ccG>ccA	p.P1471P		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1471	Pro-rich.				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										CAAGTCAGCCGTCGCCCCCAC	0.677000													12	36					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768689	121768689	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:121768689C>T	ENST00000282561.3	+	2	853	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	232					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTATGTTTTCTTCAAGGGCG	0.502000													17	108					0	0	1	0	0
SLC25A36	55186	broad.mit.edu	37	3	140692563	140692563	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:140692563G>A	ENST00000446041.2	+	6	683	c.458G>A	c.(457-459)cGc>cAc	p.R153H	SLC25A36_ENST00000324194.6_Missense_Mutation_p.R153H|SLC25A36_ENST00000453248.2_Missense_Mutation_p.R127H	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	153					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTCAGGAACCGCGGGGAAAGG	0.348000													10	92					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910963	57910963	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:57910963C>T	ENST00000366197.5	+	3	1558	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Silent_p.L448L|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCCAACCTCATTAAACATT	0.473000													10	56					0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27657091	27657091	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:27657091G>C	ENST00000305188.8	+	10	1769	c.1531G>C	c.(1531-1533)Gaa>Caa	p.E511Q	ESCO2_ENST00000397418.2_Missense_Mutation_p.E159Q	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	511					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AATTGGTCCAGAATCCCCAAG	0.433000									SC Phocomelia syndrome				6	102					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201061158	201061158	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:201061158G>T	ENST00000362061.3	-	4	709	c.483C>A	c.(481-483)gtC>gtA	p.V161V	CACNA1S_ENST00000367338.3_Silent_p.V161V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	161					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAGGGCCTTGACATCCAAGC	0.587000													8	74					0.0477658	0.0479988	1	1	0
NES	10763	broad.mit.edu	37	1	156641895	156641895	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:156641895C>A	ENST00000368223.3	-	4	2217	c.2085G>T	c.(2083-2085)gaG>gaT	p.E695D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	695	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTCCTGATTCTCCTTTGTCA	0.468000													9	49					1.12685e-05	1.17953e-05	1	1	0
POLR3C	10623	broad.mit.edu	37	1	145601583	145601583	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:145601583C>T	ENST00000334163.3	-	7	983	c.823G>A	c.(823-825)Gag>Aag	p.E275K	POLR3C_ENST00000369294.1_Missense_Mutation_p.E275K|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	275					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GTGGTAATCTCACTCATTCGG	0.458000													12	85					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169496638	169496638	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:169496638G>A	ENST00000349841.5	+	3	1012	c.349G>A	c.(349-351)Gat>Aat	p.D117N	MYNN_ENST00000544106.1_Missense_Mutation_p.D117N|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.D117N|MYNN_ENST00000356716.4_Missense_Mutation_p.D117N	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	117						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D117Y(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAAGATGGAAGATTTTGCTTT	0.358000													14	179					0	0	1	0	0
NDUFA12	55967	broad.mit.edu	37	12	95365232	95365232	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:95365232G>C	ENST00000327772.2	-	4	511	c.422C>G	c.(421-423)tCa>tGa	p.S141*	NDUFA12_ENST00000550187.1_5'UTR|NDUFA12_ENST00000547986.1_3'UTR|NDUFA12_ENST00000547157.1_Missense_Mutation_p.F44L	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	141					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	GTAAGGTGTTGAAGGTGGGAT	0.363000													17	69					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156917429	156917429	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:156917429G>T	ENST00000257527.4	-	19	2207	c.2129C>A	c.(2128-2130)gCc>gAc	p.A710D	ADAM19_ENST00000394020.1_Missense_Mutation_p.A712D|ADAM19_ENST00000517905.1_Missense_Mutation_p.A710D|ADAM19_ENST00000430702.2_Missense_Mutation_p.A443D	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	710					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACCAAGATGGCCACCAACAC	0.522000													34	115					4.65686e-17	5.42598e-17	1	1	0
MECP2	4204	broad.mit.edu	37	X	153297809	153297809	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:153297809C>T	ENST00000303391.6	-	3	475	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	MECP2_ENST00000453960.2_Missense_Mutation_p.E88K|MECP2_ENST00000407218.1_Missense_Mutation_p.E76K	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	76					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	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)					GCAGAAGCTTCCGGCACAGCC	0.637000													36	148					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306102	27306102	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:27306102G>C	ENST00000380320.4	+	4	2162	c.1663G>C	c.(1663-1665)Gag>Cag	p.E555Q		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	555					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAGCTGCAGAGTTCACACT	0.662000													13	80					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466926	10466926	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:10466926T>A	ENST00000382483.3	-	4	4905	c.4682A>T	c.(4681-4683)cAg>cTg	p.Q1561L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1561					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CACGTCCTGCTGCAGCTCGGC	0.672000													6	17					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60337148	60337148	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:60337148G>A	ENST00000267484.5	-	1	536	c.201C>T	c.(199-201)ccC>ccT	p.P67P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	67					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACTGCCGGGCGGGGCCCGAGC	0.766000													4	23					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74900417	74900417	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:74900417C>T	ENST00000569840.2	+	6	1177	c.603C>T	c.(601-603)ctC>ctT	p.L201L	MGAT5B_ENST00000428789.2_Silent_p.L212L|MGAT5B_ENST00000301618.4_Silent_p.L201L|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	201						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCATCTACCTCAGTGAGGTCG	0.667000													5	6					0	0	1	0	0
MTX3	345778	broad.mit.edu	37	5	79285042	79285042	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:79285042G>C	ENST00000512560.1	-	3	190	c.71C>G	c.(70-72)tCa>tGa	p.S24*	MTX3_ENST00000512528.1_Nonsense_Mutation_p.S85*|MTX3_ENST00000509852.1_Nonsense_Mutation_p.S85*	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	85					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		TTGTTTTGCTGAGAGTTCATA	0.348000													3	22					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154571062	154571062	+	Splice_Site	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:154571062C>G	ENST00000368474.4	-	3	1801		c.e3-1		ADAR_ENST00000368471.3_Splice_Site|ADAR_ENST00000292205.5_Splice_Site	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						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	p.?(1)		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)		GAATTTAAATCTTGACGGAAA	0.478000													11	94					0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242122202	242122202	+	Silent	SNP	C	C	T	rs139312046		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:242122202C>T	ENST00000234038.6	+	10	1521	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	PPP1R7_ENST00000272983.8_Silent_p.S306S|PPP1R7_ENST00000407025.1_Silent_p.S349S	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	349	LRRCT.					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCCTCCCCTCCGTGCGGCAGA	0.612000													12	66					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543749	154543749	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:154543749C>G	ENST00000368476.3	+	5	714	c.450C>G	c.(448-450)atC>atG	p.I150M		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	150					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)	CGCCTGCCATCTACAAGAGCG	0.537000													18	120					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965537	9965537	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:9965537G>A	ENST00000264833.4	-	6	875	c.690C>T	c.(688-690)gtC>gtT	p.V230V	OLFM2_ENST00000590841.1_Silent_p.V152V	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	230	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCATGTACCAGACCTATGGTA	0.567000													5	8					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61137143	61137143	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:61137143C>A	ENST00000317995.4	-	6	842	c.576_splice	c.e6-1	p.G193_splice	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	193					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TTTGGACTTCCCCTGAAAAAG	0.269000													9	77					0.000442599	0.000454967	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2797642	2797642	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:2797642C>A	ENST00000399655.1	+	46	6079	c.5814C>A	c.(5812-5814)ctC>ctA	p.L1938L	CACNA1C_ENST00000406454.3_Silent_p.L2009L|CACNA1C_ENST00000399621.1_Silent_p.L1957L|CACNA1C_ENST00000399606.1_Silent_p.L1958L|CACNA1C_ENST00000399617.1_Silent_p.L1973L|CACNA1C_ENST00000399641.1_Silent_p.L1938L|CACNA1C_ENST00000335762.5_Silent_p.L1963L|CACNA1C_ENST00000399634.1_Silent_p.L2009L|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Silent_p.L1973L|CACNA1C_ENST00000347598.4_Silent_p.L1986L|CACNA1C_ENST00000399591.1_Silent_p.L1946L|CACNA1C_ENST00000399649.1_Silent_p.L1944L|CACNA1C_ENST00000399637.1_Silent_p.L1957L|CACNA1C_ENST00000402845.3_Silent_p.L1957L|CACNA1C_ENST00000399603.1_Silent_p.L1938L|CACNA1C_ENST00000344100.3_Silent_p.L1979L|CACNA1C_ENST00000399595.1_Silent_p.L1946L|CACNA1C_ENST00000399644.1_Silent_p.L1938L|CACNA1C_ENST00000399601.1_Silent_p.L1938L|CACNA1C_ENST00000399597.1_Silent_p.L1938L|CACNA1C_ENST00000399629.1_Silent_p.L1955L|CACNA1C_ENST00000399638.1_Silent_p.L1966L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2021					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGAGCCCCCTCCTCCAGAGAA	0.647000													53	92					1.27862e-28	1.52782e-28	1	1	0
COX6B1	1340	broad.mit.edu	37	19	36142163	36142163	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:36142163G>A	ENST00000246554.3	+	2	210	c.18G>A	c.(16-18)gaG>gaA	p.E6E	COX6B1_ENST00000592141.1_Silent_p.E6E|COX6B1_ENST00000392201.1_Silent_p.E6E	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	6					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)			AAGACATGGAGACCAAAATCA	0.567000													27	221					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64136115	64136115	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:64136115G>A	ENST00000395254.3	+	2	443	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.E55K|ZNF365_ENST00000395255.3_Missense_Mutation_p.E55K	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAGCTACGAAGAAAGAACCCT	0.498000													22	46					0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150095128	150095128	+	Splice_Site	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:150095128C>G	ENST00000447998.2	-	12	1283	c.1169_splice	c.e12+1	p.D390_splice	DCTN4_ENST00000424236.1_Splice_Site_p.D333_splice|DCTN4_ENST00000446090.2_Splice_Site_p.D397_splice	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	390						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCACTCACTCAGGATCGTCC	0.433000													19	29					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198498508	198498508	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:198498508C>T	ENST00000295049.3	-	4	1188	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	218						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGTCCACTTTCATGATGAAGT	0.398000													6	93					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43368043	43368043	+	RNA	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:43368043G>C	ENST00000344686.2	-	0	177							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCTTGGCTTTGGGGAGTTCCT	0.597000													52	39					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16267062	16267062	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:16267062G>A	ENST00000343518.6	-	9	1438	c.1387C>T	c.(1387-1389)Cat>Tat	p.H463Y		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	463										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AATCCCATATGAGTACTTCCG	0.378000													34	506					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62570962	62570962	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:62570962G>A	ENST00000383710.4	-	8	1824	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	CADPS_ENST00000283269.9_Missense_Mutation_p.S492L|CADPS_ENST00000357948.3_Missense_Mutation_p.S492L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	492					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTGCCACTCTGACTGTTTGGG	0.428000													24	89					0	0	1	0	0
L2HGDH	79944	broad.mit.edu	37	14	50760875	50760875	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:50760875C>T	ENST00000267436.4	-	4	895	c.498G>A	c.(496-498)ctG>ctA	p.L166L	L2HGDH_ENST00000421284.3_Silent_p.L166L|L2HGDH_ENST00000261699.4_Silent_p.L166L|L2HGDH_ENST00000555610.1_Silent_p.L166L|L2HGDH_ENST00000555423.1_Silent_p.L166L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	166					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CCTGCTGGATCAGCCTCAGGC	0.433000													13	126					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126705633	126705633	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:126705633C>T	ENST00000274473.6	+	6	618	c.351C>T	c.(349-351)cgC>cgT	p.R117R	MEGF10_ENST00000418761.2_Silent_p.R117R|MEGF10_ENST00000508365.1_Silent_p.R117R|MEGF10_ENST00000503335.2_Silent_p.R117R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	117	EGF-like 1.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCCATGGTCGCTGTATTGCTC	0.468000													36	34					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10219676	10219676	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:10219676C>G	ENST00000256458.4	+	2	339	c.249C>G	c.(247-249)ctC>ctG	p.L83L		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	83	Death.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GCCTGGAGCTCTACCGGGCTG	0.632000													31	46					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19511674	19511674	+	Silent	SNP	G	G	A	rs141838691	byFrequency	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:19511674G>A	ENST00000375267.2	-	15	1860	c.1857C>T	c.(1855-1857)agC>agT	p.S619S	UBR4_ENST00000375217.2_Silent_p.S619S|UBR4_ENST00000375226.2_Silent_p.S619S|UBR4_ENST00000375254.3_Silent_p.S619S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	619	Pro-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCCGAGGAGAGCTTTCCAGTG	0.527000													56	270					0	0	1	0	0
RILPL2	196383	broad.mit.edu	37	12	123920706	123920706	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:123920706C>T	ENST00000280571.8	-	1	558	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	88						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		ATCTTCAGCTCCTCCAGCGCC	0.677000													3	15					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10720540	10720540	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:10720540C>T	ENST00000377022.3	-	6	876	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	CASZ1_ENST00000344008.5_Missense_Mutation_p.G187S	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCAAACATGCCGAGGAACTCG	0.652000													6	23					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61554234	61554234	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:61554234G>C	ENST00000263102.6	-	8	1458	c.1227C>G	c.(1225-1227)atC>atG	p.I409M		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	409						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CACTTACTGTGATACCATGGG	0.512000			T	RET	NSCLC								32	47					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	95947796	95947796	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:95947796C>G	ENST00000297954.4	+	1	585	c.585C>G	c.(583-585)ctC>ctG	p.L195L	WNK2_ENST00000395475.2_Silent_p.L181L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.L195L|WNK2_ENST00000427277.2_5'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	195	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCGCTTCCTCAAGTTCGACA	0.667000													3	20					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124534889	124534889	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:124534889G>T	ENST00000408936.3	+	12	2264	c.2082G>T	c.(2080-2082)ctG>ctT	p.L694L	DAB2IP_ENST00000309989.1_Silent_p.L570L|DAB2IP_ENST00000259371.2_Silent_p.L666L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	694					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGCAGTCTGATAGATTTCA	0.572000													18	74					3.73194e-20	4.39805e-20	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746575	77746575	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:77746575G>C	ENST00000409088.3	-	3	834	c.420C>G	c.(418-420)ctC>ctG	p.L140L	LRRTM4_ENST00000409282.1_Silent_p.L141L|LRRTM4_ENST00000409093.1_Silent_p.L140L|LRRTM4_ENST00000409884.1_Silent_p.L140L|LRRTM4_ENST00000409911.1_Silent_p.L141L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	140						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TATTGTAGGAGAGGTCCAGAT	0.393000													6	67					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879497	37879497	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:37879497G>A	ENST00000436120.2	+	5	653	c.546G>A	c.(544-546)caG>caA	p.Q182Q	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAACACAACAGAAAGTTCCTA	0.338000													17	166					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61744319	61744319	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:61744319C>G	ENST00000361357.3	+	7	812	c.494C>G	c.(493-495)tCt>tGt	p.S165C	MAP3K3_ENST00000579585.1_Missense_Mutation_p.S165C|MAP3K3_ENST00000577395.1_Missense_Mutation_p.S134C|MAP3K3_ENST00000584573.1_Missense_Mutation_p.S165C|MAP3K3_ENST00000361733.3_Missense_Mutation_p.S134C	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	134					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCTCCCCACTCTGGGGTGTCC	0.522000													17	90					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5687152	5687152	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:5687152G>C	ENST00000546188.1	-	23	2482	c.2411C>G	c.(2410-2412)tCt>tGt	p.S804C	ANO2_ENST00000327087.8_Missense_Mutation_p.S803C|ANO2_ENST00000356134.5_Missense_Mutation_p.S804C			Q9NQ90	ANO2_HUMAN	anoctamin 2	808						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCCAATTCCAGAGAGAATGTC	0.502000													46	85					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100741	8100741	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:8100741C>T	ENST00000379328.3	+	3	1283	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.L239L	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	239					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCCAGCAGCCTGCTGGGCGG	0.687000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						11	62					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790076	133790076	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:133790076G>A	ENST00000321016.8	-	18	3774	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1182W			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1182	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGGCCTGCCGAGGGCTAGGC	0.716000													14	100					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363750	22363750	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:22363750C>T	ENST00000397121.2	-	3	1086	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGCCACATTCTTCACATTTG	0.383000													13	269					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113241067	113241067	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:113241067T>G	ENST00000297405.5	-	70	11126	c.10882A>C	c.(10882-10884)Agt>Cgt	p.S3628R	CSMD3_ENST00000455883.2_Missense_Mutation_p.S3459R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3588R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3558R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3628						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						ACAGAACTACTATTTGTACCA	0.279000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	35					0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92944231	92944231	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:92944231G>A	ENST00000370332.1	-	6	1322	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	GFI1_ENST00000294702.5_Missense_Mutation_p.S335L|GFI1_ENST00000427103.1_Missense_Mutation_p.S335L	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	335					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCGAGTGTCTGAGTGGATAAG	0.502000													11	68					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222322704	222322704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:222322704G>T	ENST00000281821.2	-	6	1366	c.1325C>A	c.(1324-1326)tCa>tAa	p.S442*	EPHA4_ENST00000409938.1_Nonsense_Mutation_p.S442*|EPHA4_ENST00000409854.1_Nonsense_Mutation_p.S442*|EPHA4_ENST00000392071.4_Nonsense_Mutation_p.S391*	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	442	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AGCAATGGATGATGGTGCTGT	0.378000													9	81					7.48243e-07	8.00301e-07	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028346	37028346	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:37028346G>T	ENST00000358047.3	+	1	1915	c.1863G>T	c.(1861-1863)gaG>gaT	p.E621D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	621										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						TCCGCCCAGAGCCTCCTGAGA	0.637000													42	40					9.59835e-30	1.14823e-29	1	1	0
ENOX1	55068	broad.mit.edu	37	13	43900639	43900639	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:43900639G>C	ENST00000261488.6	-	10	1636	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	ENOX1_ENST00000540032.1_Missense_Mutation_p.F166L|ENOX1_ENST00000412891.1_Missense_Mutation_p.F353L	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	353					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TAGAAGCGTTGAAAACGGCCA	0.413000													15	81					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140800977	140800977	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:140800977G>A	ENST00000398587.2	+	1	216	c.183G>A	c.(181-183)gcG>gcA	p.A61A	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.A61A|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCTGGCGAAGCGCGGAG	0.622000													64	71					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112997080	112997080	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:112997080G>C	ENST00000271277.6	+	5	565	c.340G>C	c.(340-342)Gac>Cac	p.D114H		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	114						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGATCCTAGACCTTGAGGA	0.398000													50	61					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938476	183938476	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:183938476G>C	ENST00000361927.4	-	5	1130	c.759C>G	c.(757-759)ttC>ttG	p.F253L	COLGALT2_ENST00000546159.1_Missense_Mutation_p.F253L	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		GTGGGGGGTAGAAAGTCAGCT	0.532000													30	147					0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140111792	140111792	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:140111792C>T	ENST00000275874.5	+	4	659	c.461C>T	c.(460-462)tCc>tTc	p.S154F	RAB19_ENST00000537763.1_Missense_Mutation_p.S107F|RAB19_ENST00000356407.3_Missense_Mutation_p.S107F			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	107					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					ACGTTCGAGTCCATCCCTCAC	0.502000													8	123					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79383318	79383318	+	Splice_Site	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:79383318C>G	ENST00000370742.3	-	12	1813		c.e12+1			NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1						neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATATACATACAAGAATGATT	0.279000													7	11					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65409957	65409957	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:65409957C>T	ENST00000394224.3	+	4	1127	c.831C>T	c.(829-831)atC>atT	p.I277I	SIPA1_ENST00000534313.1_Silent_p.I277I|SIPA1_ENST00000394227.3_Silent_p.I277I|SIPA1_ENST00000527525.1_Silent_p.I277I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	277					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTGGCACCATCTCGGAGGACG	0.682000													11	19					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120712825	120712825	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:120712825G>T	ENST00000263708.2	+	20	2677	c.1906G>T	c.(1906-1908)Gac>Tac	p.D636Y	PTPN4_ENST00000544261.1_Missense_Mutation_p.D269Y	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	636						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GCATCAGGATGACCATTCCCT	0.398000													10	43					7.48243e-07	8.00301e-07	1	1	0
GUSB	2990	broad.mit.edu	37	7	65441053	65441053	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:65441053G>T	ENST00000304895.4	-	5	991	c.861C>A	c.(859-861)ctC>ctA	p.L287L	GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Silent_p.L287L|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	287					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						ACGGCCACCAGAGGCTGACAC	0.537000													8	109					0.000157383	0.000162756	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166211009	166211009	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:166211009G>A	ENST00000357398.3	+	17	3517	c.3227G>A	c.(3226-3228)aGt>aAt	p.S1076N	SCN2A_ENST00000283256.6_Missense_Mutation_p.S1076N|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1076N|SCN2A_ENST00000375437.2_Missense_Mutation_p.S1076N			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1076					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGAACTACTAGTGGCATAGGC	0.373000													22	62					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1054225	1054225	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:1054225G>A	ENST00000263094.6	+	27	3842	c.3611G>A	c.(3610-3612)gGg>gAg	p.G1204E	ABCA7_ENST00000435683.2_Missense_Mutation_p.G1066E|ABCA7_ENST00000433129.1_Missense_Mutation_p.G1204E	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1204					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CAGGGCTCTGGGCCAGACGCC	0.706000													8	30					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52478385	52478385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:52478385C>T	ENST00000216286.5	-	17	3436	c.3437G>A	c.(3436-3438)gGa>gAa	p.G1146E	NID2_ENST00000541773.1_Missense_Mutation_p.G1045E	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1146						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTAATCAATTCCCACGATTAT	0.498000													82	263					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880684	37880684	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:37880684G>C	ENST00000436120.2	+	5	1840	c.1733G>C	c.(1732-1734)gGa>gCa	p.G578A	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCACGCTGGAGAAAAACCT	0.388000													6	96					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133945841	133945841	+	Missense_Mutation	SNP	G	G	A	rs114101452	by1000genomes	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:133945841G>A	ENST00000220616.4	+	24	4892	c.4852G>A	c.(4852-4854)Gtg>Atg	p.V1618M	TG_ENST00000542445.1_Missense_Mutation_p.V52M|TG_ENST00000377869.1_Missense_Mutation_p.V1561M	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1618					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTTCACCGTGTCCACGAC	0.572000													23	181					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57115090	57115090	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:57115090G>C	ENST00000454682.1	-	3	505	c.224C>G	c.(223-225)tCg>tGg	p.S75W	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S75W	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	11	NAC-A/B.|Required for DNA-binding (By similarity).				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TAAAGGGGTCGAGGCAATAGT	0.572000			T	BCL6	NHL								7	43					0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23224783	23224783	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:23224783C>A	ENST00000258742.5	+	2	475	c.216C>A	c.(214-216)agC>agA	p.S72R	NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Missense_Mutation_p.S72R	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	72					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGGGGGCAGCAGAGATCAAG	0.423000													14	97					0.000151284	0.000156764	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11111044	11111044	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:11111044C>T	ENST00000304623.8	-	14	2578	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.E460K|CTNND2_ENST00000511377.1_Missense_Mutation_p.E706K|CTNND2_ENST00000458100.2_Missense_Mutation_p.E364K|CTNND2_ENST00000359640.2_Missense_Mutation_p.E797K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	797					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCATTGGCCTCGCCACAGAGT	0.562000													111	466					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31500580	31500580	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:31500580G>A	ENST00000417556.2	-	8	1519	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	DDX39B_ENST00000396172.1_Silent_p.L282L|DDX39B_ENST00000376177.2_Silent_p.L282L|DDX39B_ENST00000458640.1_Silent_p.L282L|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Silent_p.L204L			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	282	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGGACATCCAGAAGGTCAAAG	0.488000													35	50					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29726499	29726499	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:29726499C>G	ENST00000357586.2	-	21	2820	c.2634G>C	c.(2632-2634)caG>caC	p.Q878H	AP1B1_ENST00000317368.7_Missense_Mutation_p.Q851H|AP1B1_ENST00000356015.2_Missense_Mutation_p.Q871H|AP1B1_ENST00000402502.1_Missense_Mutation_p.Q871H|AP1B1_ENST00000405198.1_Missense_Mutation_p.Q878H|AP1B1_ENST00000415447.1_Missense_Mutation_p.Q871H|AP1B1_ENST00000432560.2_Missense_Mutation_p.Q871H	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	878					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGTTGCTGCTCTGCAGCTTGC	0.662000													8	107					0	0	1	0	0
SSB	6741	broad.mit.edu	37	2	170665049	170665049	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:170665049A>C	ENST00000409333.1	+	7	859	c.612A>C	c.(610-612)aaA>aaC	p.K204N	SSB_ENST00000260956.4_Missense_Mutation_p.K204N			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	204					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGGAAGCTAAATTAAGAGCTA	0.348000													23	36					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902634	247902634	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:247902634G>T	ENST00000283225.2	+	1	718	c.718G>T	c.(718-720)Gtg>Ttg	p.V240L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TTCCAACTGTGTGCCTCACCT	0.413000													9	41					0.000274275	0.000283353	1	1	0
PKP2	5318	broad.mit.edu	37	12	32977035	32977035	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:32977035C>A	ENST00000340811.4	-	7	1726	c.1618G>T	c.(1618-1620)Gac>Tac	p.D540Y	PKP2_ENST00000070846.6_Missense_Mutation_p.D584Y	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	584					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACCAGTGAGTCAATGAGTCCG	0.398000													13	69					7.93312e-07	8.45871e-07	1	1	0
KRT35	3886	broad.mit.edu	37	17	39633379	39633379	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:39633379C>A	ENST00000246639.2	-	7	1339	c.1207G>T	c.(1207-1209)Ggt>Tgt	p.G403C	KRT35_ENST00000393989.1_Missense_Mutation_p.G433C			Q92764	KRT35_HUMAN	keratin 35	433	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GCACTAGGACCGCAGGAGGCC	0.582000													15	80					7.93312e-07	8.45871e-07	1	1	0
ZNF184	7738	broad.mit.edu	37	6	27420617	27420617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:27420617G>A	ENST00000211936.6	-	6	1005	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.Q241*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGTGTTCTCTGATGGCGAATA	0.363000													81	72					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227533	43227533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:43227533G>T	ENST00000332499.2	+	1	2850	c.976G>T	c.(976-978)Gag>Tag	p.E326*		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	326	Required for inhibition of ESR1-dependent transcription.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGGGAGCTGGAGCTGGAGCT	0.667000													14	161					4.36969e-10	4.88684e-10	1	1	0
DAK	26007	broad.mit.edu	37	11	61112951	61112951	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:61112951G>C	ENST00000394900.3	+	15	1594	c.1365G>C	c.(1363-1365)ctG>ctC	p.L455L		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	455	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCCTGTTCCTGACTGCGGCTG	0.652000													7	101					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48175259	48175259	+	Missense_Mutation	SNP	C	C	T	rs142478393	byFrequency	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:48175259C>T	ENST00000311303.3	-	3	626	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	ABCC12_ENST00000448542.1_Missense_Mutation_p.R94Q|ABCC12_ENST00000416054.1_Missense_Mutation_p.R94Q	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	94						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCAAAGGACTCGAAATCTGTG	0.502000													7	92					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8646946	8646946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:8646946G>T	ENST00000293845.3	-	3	518	c.292C>A	c.(292-294)Cag>Aag	p.Q98K	CCDC42_ENST00000539522.2_Missense_Mutation_p.Q98K	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	98										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CTTCAAACCTGGATGAACTGC	0.592000													24	28					1.85244e-09	2.05605e-09	1	1	0
NOX4	50507	broad.mit.edu	37	11	89166014	89166014	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:89166014C>G	ENST00000535633.1	-	7	724	c.414G>C	c.(412-414)ctG>ctC	p.L138L	NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000413594.2_Silent_p.L183L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Silent_p.L138L|NOX4_ENST00000343727.5_Silent_p.L138L|NOX4_ENST00000534731.1_Silent_p.L162L|NOX4_ENST00000532825.1_Silent_p.L138L|NOX4_ENST00000528341.1_Silent_p.L137L|NOX4_ENST00000424319.1_Silent_p.L138L|NOX4_ENST00000525196.1_Silent_p.L162L|NOX4_ENST00000542487.1_Silent_p.L138L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000263317.4_Silent_p.L162L	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	162	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGACCCCTGTCAGGCCAGGAA	0.348000													10	14					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861173	67861173	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:67861173C>T	ENST00000388833.3	+	14	1901	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TSNAXIP1_ENST00000415766.3_Silent_p.F493F|TSNAXIP1_ENST00000561639.1_Silent_p.F562F	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	508					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		AGAGTACCTTCCCTCTCAAGA	0.562000													15	47					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458921	16458921	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:16458921C>T	ENST00000358432.5	-	12	2221	c.2067G>A	c.(2065-2067)atG>atA	p.M689I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	689	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CAGTGATGATCATCATGGGCT	0.612000													23	104					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26629887	26629887	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:26629887C>G	ENST00000381340.3	-	44	6593	c.6177G>C	c.(6175-6177)gaG>gaC	p.E2059D		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2059					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)					TTTCTGCATTCTCACTGTCAT	0.358000													11	34					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100412842	100412842	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:100412842C>T	ENST00000375147.3	+	9	1211	c.955C>T	c.(955-957)Cac>Tac	p.H319Y		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	319					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)				AGAGAATCTTCACTGCATCAT	0.398000													15	64					0	0	1	0	0
TYMP	1890	broad.mit.edu	37	22	50967981	50967981	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:50967981T>C	ENST00000252029.3	-	2	320	c.158A>G	c.(157-159)gAc>gGc	p.D53G	TYMP_ENST00000395678.3_Missense_Mutation_p.D53G|TYMP_ENST00000395680.1_Missense_Mutation_p.D53G|TYMP_ENST00000395681.1_Missense_Mutation_p.D53G	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	53					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GCCCCTGATGTCCGCTTCGCT	0.687000													37	45					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142185372	142185372	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:142185372C>G	ENST00000350721.4	-	40	6812	c.6691G>C	c.(6691-6693)Gat>Cat	p.D2231H	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.D2167H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2231					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTACTTCCATCAACCTGAAAA	0.294000								Other conserved DNA damage response genes					6	67					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9322131	9322131	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:9322131C>G	ENST00000377403.2	+	4	1061	c.759C>G	c.(757-759)ttC>ttG	p.F253L	H6PD_ENST00000602477.1_Missense_Mutation_p.F264L	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	253	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCACCAGCTTCTATGAGGAGT	0.607000													6	43					0	0	1	0	0
ZNF146	7705	broad.mit.edu	37	19	36727581	36727581	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:36727581C>T	ENST00000456324.1	+	3	1688	c.239C>T	c.(238-240)tCa>tTa	p.S80L	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Missense_Mutation_p.S80L	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	80					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGTGGAAAATCATTTAGCCAG	0.398000													22	261					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	33995996	33995996	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:33995996C>A	ENST00000374181.3	-	9	2759	c.2590G>T	c.(2590-2592)Gtt>Ttt	p.V864F	GRM4_ENST00000455714.2_Missense_Mutation_p.V724F|GRM4_ENST00000538487.1_Missense_Mutation_p.V864F|GRM4_ENST00000544773.1_Missense_Mutation_p.V695F|GRM4_ENST00000374177.3_Missense_Mutation_p.V748F|GRM4_ENST00000535756.1_Missense_Mutation_p.V731F|GRM4_ENST00000545715.1_Missense_Mutation_p.V556F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	864					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCCGCCGTAACGACGGCTTTG	0.602000													33	49					4.34311e-12	4.93753e-12	1	1	0
GOLGA2	2801	broad.mit.edu	37	9	131036192	131036192	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:131036192C>G	ENST00000421699.2	-	2	156	c.144G>C	c.(142-144)aaG>aaC	p.K48N	GOLGA2_ENST00000490628.1_Missense_Mutation_p.K48N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	48	Poly-Lys.					Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TTTTTATTTTCTTCTTCTTTT	0.468000													35	134					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30218423	30218423	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:30218423C>G	ENST00000397771.2	-	6	619	c.442G>C	c.(442-444)Gaa>Caa	p.E148Q	ASCC2_ENST00000307790.3_Missense_Mutation_p.E148Q|ASCC2_ENST00000542393.1_Intron			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TAGAGGATTTCTCCAAACGCA	0.413000													18	69					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98576474	98576474	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:98576474G>C	ENST00000359863.4	+	57	8769	c.8560G>C	c.(8560-8562)Gag>Cag	p.E2854Q	TRRAP_ENST00000355540.3_Missense_Mutation_p.E2836Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.E2836Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2854	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCGTCCTGGAGTGCGCCTG	0.622000													26	135					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776736	5776736	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:5776736C>G	ENST00000317254.3	+	1	814	c.766C>G	c.(766-768)Cca>Gca	p.P256A	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTCCTATACTCCAGCTTTCTT	0.502000													26	176					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82996972	82996972	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:82996972C>T	ENST00000529689.1	-	1	478	c.44G>A	c.(43-45)aGa>aAa	p.R15K	CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000529073.1_Missense_Mutation_p.R15K|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Intron			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	15						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				ACGATCTCCTCTGCCTTGGGA	0.607000													4	18					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43818393	43818393	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:43818393G>A	ENST00000382031.1	+	5	5467	c.5436G>A	c.(5434-5436)gaG>gaA	p.E1812E	MAP1A_ENST00000399453.1_Silent_p.E1574E|MAP1A_ENST00000300231.5_Silent_p.E1574E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1574						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTCTGGAAGAGAACCACCAAA	0.463000													19	76					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156753033	156753033	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:156753033C>A	ENST00000537611.2	-	9	1316	c.1270G>T	c.(1270-1272)Gac>Tac	p.D424Y		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	424						integral to membrane|plasma membrane		p.D424N(1)									TAGTTTAGGTCACTATAGTTA	0.313000													19	48					2.37509e-13	2.72421e-13	1	1	0
CHST8	64377	broad.mit.edu	37	19	34263835	34263835	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:34263835C>A	ENST00000262622.3	+	4	1900	c.1142C>A	c.(1141-1143)gCg>gAg	p.A381E	CHST8_ENST00000438847.2_Missense_Mutation_p.A381E|CHST8_ENST00000434302.1_Missense_Mutation_p.A381E	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	381					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TCGCAGGAGGCGCGGACCACA	0.612000													17	97					3.52763e-06	3.72281e-06	1	1	0
VPS37A	137492	broad.mit.edu	37	8	17132389	17132389	+	Silent	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:17132389A>T	ENST00000324849.4	+	5	1238	c.564A>T	c.(562-564)acA>acT	p.T188T	VPS37A_ENST00000521829.1_Silent_p.T163T	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	188					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GTCATACCACAGCCAAGCCTG	0.438000													41	50					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433871	73433871	+	Missense_Mutation	SNP	C	C	A	rs139110477		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:73433871C>A	ENST00000263666.4	-	10	1960	c.1846G>T	c.(1846-1848)Ggc>Tgc	p.G616C	PDZRN3_ENST00000466780.1_Missense_Mutation_p.G273C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.G273C|PDZRN3_ENST00000479530.1_Missense_Mutation_p.G333C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.G338C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	616							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGCAGGTCGCCGCTGCCCAAG	0.657000													49	65					8.04919e-23	9.57351e-23	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71036164	71036164	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:71036164C>A	ENST00000452400.2	-	21	4429	c.4248G>T	c.(4246-4248)gtG>gtT	p.V1416V	NCOA2_ENST00000267974.4_Silent_p.V504V	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1416					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)			GCACGGAGGTCACTGAGGTCA	0.527000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								6	53					5.9392e-07	6.37891e-07	1	1	0
EML3	256364	broad.mit.edu	37	11	62378649	62378649	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:62378649G>A	ENST00000394773.2	-	3	669	c.362C>T	c.(361-363)tCt>tTt	p.S121F	EML3_ENST00000278845.4_Missense_Mutation_p.S122F|EML3_ENST00000494176.2_Missense_Mutation_p.S93F|EML3_ENST00000529309.1_Missense_Mutation_p.S121F	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	121						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCCTCCTTCAGATTGGGTCCC	0.682000													11	22					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25268367	25268367	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:25268367C>T	ENST00000328086.7	-	1	885	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	28					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GATGCCCACTCAGGGTCCTTT	0.552000											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	113					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49689141	49689141	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:49689141C>T	ENST00000257860.4	+	1	1657	c.158C>T	c.(157-159)tCc>tTc	p.S53F	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	53	Head.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						TCCCCGAGCTCCTCGGTGCGC	0.731000													5	29					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357120	36357120	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:36357120C>T	ENST00000360202.5	+	15	2051	c.1853C>T	c.(1852-1854)gCc>gTc	p.A618V	KIRREL2_ENST00000592409.1_Missense_Mutation_p.A583V|KIRREL2_ENST00000347900.6_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.A598V	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	618					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTGGCGAAGCCCCTGGAGGA	0.612000													146	137					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70497129	70497129	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:70497129C>T	ENST00000288078.6	+	2	268	c.36C>T	c.(34-36)atC>atT	p.I12I	FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Silent_p.I12I|FUK_ENST00000378912.2_Silent_p.I12I	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	12						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGACAGTCATCATCCTGACCT	0.532000													13	112					0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206858719	206858719	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:206858719A>C	ENST00000367103.3	+	1	338	c.145A>C	c.(145-147)Aag>Cag	p.K49Q	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.K49Q	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	49					activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|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	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GTTCCACGTCAAGTCCGGCCT	0.692000													7	37					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113993030	113993030	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:113993030T>G	ENST00000429538.3	-	9	1222	c.1028A>C	c.(1027-1029)aAt>aCt	p.N343T	PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Missense_Mutation_p.M317L|PAX8_ENST00000263334.5_Missense_Mutation_p.M317L|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000456685.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	343					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GGGAAAGGCATTGAAGGGCGG	0.632000			T	PPARG	follicular thyroid		Thyroid dysgenesis						4	29					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10031816	10031816	+	Splice_Site	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:10031816G>A	ENST00000396573.2	-	4	1316	c.1007_splice	c.e4+1	p.P336_splice	GRIN2A_ENST00000330684.3_Splice_Site_p.P336_splice|GRIN2A_ENST00000562109.1_Splice_Site_p.P336_splice|GRIN2A_ENST00000535259.1_Splice_Site_p.P179_splice|GRIN2A_ENST00000404927.2_Splice_Site_p.P336_splice|GRIN2A_ENST00000396575.2_Splice_Site_p.P336_splice	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	336					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTTTCTTACGGGTGCAAGGT	0.502000													8	40					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133492609	133492609	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:133492609G>A	ENST00000388996.4	-	1	591	c.171C>T	c.(169-171)ctC>ctT	p.L57L	KCNQ3_ENST00000519445.1_Silent_p.L57L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	57					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)			CTCCGGCCCCGAGCGCCAAGG	0.761000													4	14					0	0	1	0	0
SCO2	9997	broad.mit.edu	37	22	50962832	50962832	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:50962832C>T	ENST00000543927.1	-	2	215	c.9G>A	c.(7-9)ctG>ctA	p.L3L	SCO2_ENST00000535425.1_Silent_p.L3L|SCO2_ENST00000252785.3_Silent_p.L3L|SCO2_ENST00000395693.3_Silent_p.L3L	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	3					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGAGTCAGCAGCAGCATGG	0.647000													7	36					0	0	1	0	0
TTC9B	148014	broad.mit.edu	37	19	40723265	40723265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:40723265G>A	ENST00000311308.6	-	2	456	c.439C>T	c.(439-441)Cag>Tag	p.Q147*		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	147							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGCTCCGACTGCAGCAGGCAA	0.662000													18	20					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161512854	161512854	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:161512854C>G	ENST00000367969.3	-	5	1004	c.821G>C	c.(820-822)aGa>aCa	p.R274T	FCGR3A_ENST00000540048.1_Missense_Mutation_p.R238T|FCGR3A_ENST00000443193.1_Missense_Mutation_p.R273T|FCGR3A_ENST00000436743.1_Missense_Mutation_p.R238T	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	238					immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTTCCAGTCTCTTGTTGAGCT	0.453000													16	136					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4626249	4626249	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:4626249C>A	ENST00000261250.3	-	9	1227	c.1140G>T	c.(1138-1140)agG>agT	p.R380S	C12orf4_ENST00000545746.1_Missense_Mutation_p.R380S	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	380										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TCAATTTACTCCTGCGCTGGG	0.378000													20	52					4.35082e-09	4.80315e-09	1	1	0
CCKAR	886	broad.mit.edu	37	4	26490891	26490891	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:26490891C>T	ENST00000295589.3	-	2	522	c.328G>A	c.(328-330)Ggg>Agg	p.G110R		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	110					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACGGCGCTCCCGAAGATGAAA	0.557000													44	158					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77551946	77551946	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:77551946C>G	ENST00000416283.2	+	9	994	c.868C>G	c.(868-870)Caa>Gaa	p.Q290E	PHTF2_ENST00000415251.2_Missense_Mutation_p.Q286E|PHTF2_ENST00000450574.1_Missense_Mutation_p.Q290E|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000422959.2_Missense_Mutation_p.Q290E|PHTF2_ENST00000248550.7_Missense_Mutation_p.Q324E|PHTF2_ENST00000424760.1_Missense_Mutation_p.Q286E|PHTF2_ENST00000307305.8_Missense_Mutation_p.Q286E|PHTF2_ENST00000275575.7_Missense_Mutation_p.Q286E	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTAGGATACCCAAAGGACAAT	0.368000													4	25					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128178938	128178938	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:128178938C>T	ENST00000453608.2	+	3	221	c.213C>T	c.(211-213)ctC>ctT	p.L71L	PROC_ENST00000234071.3_Silent_p.L50L|PROC_ENST00000422777.3_Silent_p.L50L|PROC_ENST00000409048.1_Silent_p.L50L			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	50	Gla.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	p.L50L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGGAGGAGCTCCGTCACAGCA	0.572000													35	62					0	0	1	0	0
FAM98B	283742	broad.mit.edu	37	15	38766385	38766385	+	Silent	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:38766385A>G	ENST00000397609.2	+	6	650	c.615A>G	c.(613-615)gaA>gaG	p.E205E	FAM98B_ENST00000491535.1_Silent_p.E205E	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	205						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TTTTTTAGGAACAACTGGAAA	0.343000													19	29					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46886046	46886046	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:46886046G>A	ENST00000378623.1	-	36	5438	c.5196C>T	c.(5194-5196)ctC>ctT	p.L1732L	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1732					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCAGAATACTGAGGAGTCCAC	0.498000													46	152					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587472	55587472	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:55587472C>A	ENST00000333976.4	+	1	387	c.367C>A	c.(367-369)Cgc>Agc	p.R123S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGCCTATGACCGCTTCGTGGC	0.458000													66	195					6.25564e-26	7.45754e-26	1	1	0
OR6B1	135946	broad.mit.edu	37	7	143701913	143701913	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:143701913T>A	ENST00000408922.2	+	1	892	c.824T>A	c.(823-825)tTc>tAc	p.F275Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATTTCCATCTTCTATGCCATT	0.423000													9	63					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10165983	10165983	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:10165983C>G	ENST00000380833.4	+	6	828	c.437C>G	c.(436-438)gCc>gGc	p.A146G	CLCN4_ENST00000380829.1_Missense_Mutation_p.A146G|CLCN4_ENST00000421085.2_Missense_Mutation_p.A52G	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	146						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCTAGGGTGCCAGTGCTTAC	0.463000													23	32					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219252294	219252294	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:219252294G>C	ENST00000233202.6	+	7	918	c.578G>C	c.(577-579)cGg>cCg	p.R193P	SLC11A1_ENST00000539932.1_Missense_Mutation_p.R75P	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	193					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	p.R193L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAGGGCTGCGGAAGCTGGAA	0.463000													48	317					0	0	1	0	0
ATG5	9474	broad.mit.edu	37	6	106727584	106727584	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:106727584C>G	ENST00000369076.3	-	5	753	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q	ATG5_ENST00000343245.3_Missense_Mutation_p.E144Q|ATG5_ENST00000369070.1_Missense_Mutation_p.E66Q|ATG5_ENST00000360666.4_Intron	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	144					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.E144*(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TTCTGCATTTCATTGATTACT	0.313000													5	36					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1162291	1162291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:1162291C>A	ENST00000356191.2	+	20	1791	c.1791C>A	c.(1789-1791)ttC>ttA	p.597_597insL						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TCAACACCTTCAAGACCCAGG	0.627000													16	47					3.52763e-06	3.72281e-06	1	1	0
GNAO1	2775	broad.mit.edu	37	16	56362697	56362697	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:56362697C>A	ENST00000262494.7	+	4	718	c.458C>A	c.(457-459)gCc>gAc	p.A153D	GNAO1_ENST00000262493.6_Missense_Mutation_p.A153D	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	153					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AACGACTCTGCCAAATAGTGA	0.592000													18	33					6.94344e-10	7.74837e-10	1	1	0
DDHD2	23259	broad.mit.edu	37	8	38111151	38111151	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:38111151C>G	ENST00000397166.2	+	16	2494	c.1969C>G	c.(1969-1971)Caa>Gaa	p.Q657E	DDHD2_ENST00000517385.1_Missense_Mutation_p.Q276E|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q657E|DDHD2_ENST00000529845.1_Missense_Mutation_p.Q108E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	657	DDHD.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAATGGAGGCCAACGCATTGA	0.388000													33	85					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90079736	90079736	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:90079736C>T	ENST00000405460.2	+	67	13611	c.13515C>T	c.(13513-13515)atC>atT	p.I4505I	GPR98_ENST00000425867.2_Silent_p.I166I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4505					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAGCAGAATCATAATAGCTA	0.438000													4	25					0	0	1	0	0
ATOH8	84913	broad.mit.edu	37	2	85981390	85981390	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:85981390C>G	ENST00000306279.3	+	1	374	c.78C>G	c.(76-78)ctC>ctG	p.L26L		NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	26					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTAAGAAGCTCAAGCGGAAAG	0.672000													4	31					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127624234	127624234	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:127624234G>C	ENST00000508053.1	-	59	7627	c.6653C>G	c.(6652-6654)tCa>tGa	p.S2218*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.S2218*			P35556	FBN2_HUMAN	fibrillin 2	2218	EGF-like 37; 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)		ATTGCCGATTGAACACTCATC	0.433000													38	36					0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240961724	240961724	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:240961724G>A	ENST00000252711.2	-	2	209	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	NDUFA10_ENST00000407129.3_Missense_Mutation_p.R37C|NDUFA10_ENST00000404554.1_Missense_Mutation_p.R37C|NDUFA10_ENST00000307300.4_Missense_Mutation_p.R37C	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	37					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	ATTCCATAGCGCAGTTTGCAC	0.428000													15	32					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18741778	18741778	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:18741778C>T	ENST00000513874.1	-	5	572	c.433G>A	c.(433-435)Gac>Aac	p.D145N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	145	Ig-like 1.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCTGCATGGTCATTGCTTGCA	0.512000													20	54					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75857478	75857478	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:75857478G>C	ENST00000322507.8	-	23	4639	c.4330C>G	c.(4330-4332)Ctg>Gtg	p.L1444V	COL12A1_ENST00000483888.2_Missense_Mutation_p.L1444V|COL12A1_ENST00000345356.6_Missense_Mutation_p.L280V|COL12A1_ENST00000416123.2_Missense_Mutation_p.L1444V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1444	Fibronectin type-III 9.				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						TCAGGTTTCAGATCTTTCAGC	0.378000													8	84					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12131021	12131021	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:12131021C>T	ENST00000263035.4	+	5	816	c.754C>T	c.(754-756)Cca>Tca	p.P252S	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	252					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AAGTGAATTTCCAGAGAATTT	0.468000													14	125					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70968671	70968671	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:70968671G>C	ENST00000359655.4	+	15	2301	c.2241G>C	c.(2239-2241)atG>atC	p.M747I		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	747	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCAGACATGCTGAAACAGC	0.483000													13	58					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906483	32906483	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:32906483G>A	ENST00000544455.1	+	10	1095	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	BRCA2_ENST00000380152.3_Missense_Mutation_p.V290I	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	290					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)		AATGCCAAATGTCCTAGAAGA	0.303000			"""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)			25	24					0	0	1	0	0
VPS9D1	9605	broad.mit.edu	37	16	89775668	89775668	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:89775668C>G	ENST00000561976.1	-	11	1731	c.1354G>C	c.(1354-1356)Gag>Cag	p.E452Q	VPS9D1_ENST00000389386.3_Missense_Mutation_p.E522Q					VPS9 domain containing 1																		GGGCAGCTCTCCAGGACCAGC	0.657000													8	78					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92170938	92170938	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:92170938C>G	ENST00000256343.3	-	7	730	c.574G>C	c.(574-576)Gat>Cat	p.D192H		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	192					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATGCCACATCATTGGCACAG	0.383000													33	92					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33089227	33089227	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:33089227G>A	ENST00000306065.4	-	29	3135	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	993					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCAGCAGCATGAGATCCACTC	0.527000													28	374					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516607	195516607	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:195516607G>C	ENST00000463781.3	-	2	2303	c.1844C>G	c.(1843-1845)tCa>tGa	p.S615*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S615*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	620					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ATGATTTGTTGATGGTGCCGT	0.473000													174	475					0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128984620	128984620	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:128984620G>A	ENST00000314797.6	+	14	1557	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	485					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CTTGGAGCATGAGGAGGTCCG	0.557000													8	55					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21862293	21862293	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:21862293G>C	ENST00000399982.2	-	31	5725	c.5661C>G	c.(5659-5661)ctC>ctG	p.L1887L	CHD8_ENST00000557364.1_Silent_p.L1887L|CHD8_ENST00000430710.3_Silent_p.L1608L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1887					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTATACGGTAGAGAGTCCGTG	0.512000													37	67					0	0	1	0	0
MORF4L1	10933	broad.mit.edu	37	15	79183876	79183876	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:79183876C>T	ENST00000331268.5	+	8	721	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	MORF4L1_ENST00000558502.1_Missense_Mutation_p.R46W|MORF4L1_ENST00000379535.4_Missense_Mutation_p.R159W|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558746.1_Missense_Mutation_p.R107W|MORF4L1_ENST00000426013.2_Missense_Mutation_p.R134W|MORF4L1_ENST00000559345.1_Missense_Mutation_p.R46W	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	173	Interaction with RB1-1.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TCAGCCTCCTCGGAAGAAAAG	0.438000													11	63					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	437796	437796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:437796G>A	ENST00000338977.5	-	2	472	c.424C>T	c.(424-426)Caa>Taa	p.Q142*	ZNF721_ENST00000511833.2_Nonsense_Mutation_p.Q154*|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTCTTGTGTTGATTCAGGTCT	0.393000													8	83					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156823985	156823985	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:156823985C>G	ENST00000368195.3	-	2	592	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	66					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGAAGTCCTCCCCGGTGGCT	0.632000													7	50					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158448109	158448109	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:158448109C>A	ENST00000409339.3	-	20	2540	c.2427G>T	c.(2425-2427)aaG>aaT	p.K809N	NCAPG2_ENST00000449727.2_Missense_Mutation_p.K809N|NCAPG2_ENST00000541468.1_Missense_Mutation_p.K310N|NCAPG2_ENST00000356309.3_Missense_Mutation_p.K809N|NCAPG2_ENST00000409423.1_Missense_Mutation_p.K809N|NCAPG2_ENST00000275830.10_Missense_Mutation_p.K601N			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	809					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGCCACGAGGCTTCCCACCCG	0.582000													77	214					1.8615e-32	2.23467e-32	1	1	0
PSD	5662	broad.mit.edu	37	10	104165178	104165178	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:104165178G>A	ENST00000020673.5	-	12	2777	c.2251C>T	c.(2251-2253)Ccc>Tcc	p.P751S	PSD_ENST00000406432.1_Missense_Mutation_p.P751S	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	751					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCAGGCTCGGGAGTCAGGTCC	0.657000													9	156					0	0	1	0	0
MRPS15	64960	broad.mit.edu	37	1	36926872	36926872	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:36926872G>T	ENST00000373116.5	-	4	454	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	98					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACCTTGTTGGCCATTTCCAA	0.522000													22	99					9.95505e-16	1.15081e-15	1	1	0
BMI1	648	broad.mit.edu	37	10	22617985	22617985	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:22617985C>T	ENST00000376663.3	+	9	1084	c.579C>T	c.(577-579)gtC>gtT	p.V193V	COMMD3-BMI1_ENST00000602390.1_Silent_p.V336V	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AGATTGATGTCATGTATGAGG	0.269000													54	143					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17662704	17662704	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:17662704A>G	ENST00000375448.4	+	4	417	c.391A>G	c.(391-393)Aga>Gga	p.R131G	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	131			R -> T (in dbSNP:rs12733102).		chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GAAGCCAACCAGAGCTGTGAA	0.562000											OREG0013149	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	26					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300883	21300883	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:21300883C>G	ENST00000596143.1	+	5	1738	c.1413C>G	c.(1411-1413)aaC>aaG	p.N471K	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CTAAACATAACATAATTCATA	0.368000													11	123					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066814	9066814	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:9066814C>G	ENST00000397910.4	-	3	20835	c.20632G>C	c.(20632-20634)Gaa>Caa	p.E6878Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6880	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						TGCATGGCTTCTATAGCTGTG	0.478000													8	133					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22558154	22558154	+	RNA	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:22558154G>T	ENST00000550753.1	+	0	1136					NR_003676.2																						CTCGGTCAAGGAAGTGGGACC	0.453000													5	7					0.184627	0.184807	1	1	0
SLC39A3	29985	broad.mit.edu	37	19	2733331	2733331	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:2733331G>C	ENST00000269740.4	-	3	692	c.363C>G	c.(361-363)ttC>ttG	p.F121L	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.F121L	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	121						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		ATCCGGCGTTGAAGGTCTCCA	0.647000													24	85					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181301	65181301	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:65181301T>C	ENST00000310045.7	-	2	2048	c.575A>G	c.(574-576)gAc>gGc	p.D192G		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	182						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATATAAAAAGTCAAAGGCAGT	0.398000													21	45					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116631625	116631625	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:116631625C>A	ENST00000395715.3	-	3	1277	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	TRPS1_ENST00000519674.1_Missense_Mutation_p.D221Y|TRPS1_ENST00000519076.1_Missense_Mutation_p.D175Y|TRPS1_ENST00000220888.5_Missense_Mutation_p.D221Y|TRPS1_ENST00000520276.1_Missense_Mutation_p.D225Y	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	221					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CATTTAAAGTCCTGAAGCTCT	0.463000									Langer-Giedion syndrome				30	169					1.13719e-10	1.28292e-10	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232575095	232575095	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:232575095C>T	ENST00000366630.1	-	14	4148	c.3790G>A	c.(3790-3792)Gac>Aac	p.D1264N	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D338N|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1264N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1264					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)				ATGCCACTGTCGGTGGAGGCC	0.637000													13	95					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3632493	3632493	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:3632493C>T	ENST00000294008.3	-	15	5995	c.5355G>A	c.(5353-5355)ctG>ctA	p.L1785L	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1785	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGTTCTGCCTCAGCTCTGCCT	0.642000								Direct reversal of damage					23	187					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137717751	137717751	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:137717751C>T	ENST00000343735.4	+	1	175	c.41C>T	c.(40-42)tCa>tTa	p.S14L		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	14					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TTCGTGGTTTCACTGATTGGG	0.552000													27	241					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39046938	39046938	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:39046938G>C	ENST00000373256.4	+	10	1048	c.1005G>C	c.(1003-1005)ctG>ctC	p.L335L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	335					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TATCCAAACTGAAGGCCAATC	0.547000													46	111					0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	27062668	27062668	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:27062668G>C	ENST00000443698.1	+	20	1908	c.1737G>C	c.(1735-1737)gtG>gtC	p.V579V	IFT74_ENST00000380062.5_Silent_p.V579V|IFT74_ENST00000433700.1_Silent_p.V579V	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	579						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGAAAAATGTGACCAAGCAGA	0.373000													107	28					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65269266	65269266	+	RNA	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:65269266G>C	ENST00000534336.1	+	0	4034					NR_002819.2																						GCCAAATGTTGAAGTTAAGTT	0.408000													20	14					0	0	1	0	0
LYSMD2	256586	broad.mit.edu	37	15	52017203	52017203	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:52017203G>C	ENST00000267838.3	-	2	903	c.389C>G	c.(388-390)tCc>tGc	p.S130C	LYSMD2_ENST00000558126.1_Intron|LYSMD2_ENST00000454181.2_Missense_Mutation_p.S39C|LYSMD2_ENST00000560491.1_Missense_Mutation_p.S39C	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	130					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		AGAATCAATGGAGTTAAGTCC	0.418000													15	81					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910350	29910350	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:29910350G>A	ENST00000396634.1	+	3	361	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	HLA-A_ENST00000376806.5_Missense_Mutation_p.R7Q|HLA-A_ENST00000376809.5_Missense_Mutation_p.R7Q|HLA-A_ENST00000376802.2_Missense_Mutation_p.R7Q			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	7					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ATGGCGCCCCGAACCCTCCTC	0.677000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			32	70					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158326316	158326316	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:158326316C>A	ENST00000368161.3	+	5	829	c.829C>A	c.(829-831)Ctg>Atg	p.L277M	CD1E_ENST00000368166.3_Silent_p.I122I|CD1E_ENST00000368163.3_Silent_p.I256I|CD1E_ENST00000368157.1_Silent_p.I67I|CD1E_ENST00000368156.1_Silent_p.I221I|CD1E_ENST00000368164.3_Missense_Mutation_p.L88M|CD1E_ENST00000368154.1_Silent_p.I67I|CD1E_ENST00000452291.2_Silent_p.I122I|CD1E_ENST00000368155.3_Silent_p.I166I|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368167.3_Silent_p.I311I|CD1E_ENST00000368160.3_Silent_p.I311I|CD1E_ENST00000368165.3_Silent_p.I221I|CD1E_ENST00000444681.2_Silent_p.I212I	NM_001042584.2	NP_001036049.1	P15812	CD1E_HUMAN	CD1e molecule	0	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCATCCTGATCTGTTTGACTG	0.398000													7	31					0.27861	0.27861	1	1	0
ALKBH1	8846	broad.mit.edu	37	14	78161091	78161091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:78161091C>A	ENST00000216489.3	-	3	460	c.445G>T	c.(445-447)Gag>Tag	p.E149*	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	149					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTCAGGAACTCTTTGCTCTGT	0.388000													60	332					3.86002e-21	4.55942e-21	1	1	0
ZNF146	7705	broad.mit.edu	37	19	36727417	36727417	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:36727417C>G	ENST00000456324.1	+	3	1524	c.75C>G	c.(73-75)ttC>ttG	p.F25L	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Missense_Mutation_p.F25L	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	25					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					GAAAAGTCTTCAGCCACAAAT	0.443000													12	191					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128677116	128677116	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:128677116G>C	ENST00000344954.6	+	7	1052	c.664G>C	c.(664-666)Gag>Cag	p.E222Q	FLI1_ENST00000281428.8_Missense_Mutation_p.E189Q|FLI1_ENST00000525560.1_Missense_Mutation_p.E62Q|FLI1_ENST00000429175.2_Missense_Mutation_p.E255Q|FLI1_ENST00000534087.1_Missense_Mutation_p.E222Q			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	255					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TAAGAATACAGAGCAACGGCC	0.522000			T	EWSR1	Ewing sarcoma								4	36					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104100712	104100712	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:104100712G>T	ENST00000388887.2	+	38	4343	c.4139G>T	c.(4138-4140)gGc>gTc	p.G1380V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1380	Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCTTCAGCGGCACAGCCTGC	0.582000													33	38					4.74835e-14	5.45849e-14	1	1	0
ALDH18A1	5832	broad.mit.edu	37	10	97380818	97380818	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:97380818G>A	ENST00000371224.2	-	12	1574	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	ALDH18A1_ENST00000371221.3_Silent_p.I477I	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	479	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GAGATTCAAAGATCACCAGCA	0.517000													6	43					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19611578	19611578	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:19611578C>T	ENST00000361640.4	-	4	1078	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	180					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCCGTTTCCACCTGCCGG	0.562000													19	149					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3634467	3634467	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:3634467G>A	ENST00000263087.4	-	23	2863	c.2765C>T	c.(2764-2766)tCa>tTa	p.S922L	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	922					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCAAACGACTGAAACATGAGC	0.478000													45	40					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158912050	158912050	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:158912050C>G	ENST00000368140.1	+	5	1108	c.863C>G	c.(862-864)tCt>tGt	p.S288C	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S279C|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S279C|PYHIN1_ENST00000392254.2_Missense_Mutation_p.S288C	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	288	HIN-200.				cell cycle	nuclear speck		p.S288F(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAAGCCTCTTCTGTATCTGAA	0.348000													15	42					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202880184	202880184	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:202880184C>G	ENST00000367261.3	-	5	933	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	KLHL12_ENST00000435533.3_Missense_Mutation_p.E277Q	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	239					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTACTTACCTCAGCATCTATT	0.438000													44	92					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43819460	43819460	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:43819460T>C	ENST00000389420.3	-	28	4140	c.4141A>G	c.(4141-4143)Aga>Gga	p.R1381G	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1381G|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R499G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1381	TSP type-1 10.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATTACAAGTCTTGATTTTATT	0.328000													3	10					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595666	82595666	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:82595666C>T	ENST00000423517.2	-	4	3775	c.3438G>A	c.(3436-3438)caG>caA	p.Q1146Q	PCLO_ENST00000333891.8_Silent_p.Q1146Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1085					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCTGTTTTCTGAGATGATG	0.423000													10	56					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10599867	10599867	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:10599867C>A	ENST00000171111.5	-	5	2256		c.e5+1		KEAP1_ENST00000393623.2_Splice_Site	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CAGGGCCTCACCAAGGACGTA	0.488000													21	21					1.10923e-09	1.23381e-09	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11038883	11038883	+	RNA	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr21:11038883G>A	ENST00000470054.1	-	0	1320									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATGTCATGCGAAGGCAAGTC	0.438000													25	187					0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61137142	61137142	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:61137142C>A	ENST00000317995.4	-	6	843	c.579G>T	c.(577-579)ggG>ggT	p.G193G	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	193					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TTTTGGACTTCCCCTGAAAAA	0.264000													9	80					0.000442599	0.000454967	1	1	0
SEC22B	9554	broad.mit.edu	37	1	145096546	145096546	+	RNA	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:145096546G>C	ENST00000453618.1	+	0	327							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGTTTGTGAAGATGGTGTTGC	0.607000													8	7					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083653	9083653	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:9083653G>T	ENST00000397910.4	-	1	8365	c.8162C>A	c.(8161-8163)cCa>cAa	p.P2721Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2721	Ser-rich.|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						AGGATGGAGTGGACTTTCTGT	0.468000													59	75					9.77497e-20	1.14803e-19	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79058682	79058682	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:79058682C>T	ENST00000388820.4	-	19	3781	c.3571G>A	c.(3571-3573)Gag>Aag	p.E1191K		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1191					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TTTTGGCTCTCAGGGGTGGCA	0.607000													9	37					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176227	104176227	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:104176227G>T	ENST00000020673.5	-	2	1095	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	PSD_ENST00000406432.1_Missense_Mutation_p.S190Y	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	190					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGGGAGAGAGGAGTAAAGGCC	0.657000													5	31					0.000602214	0.000617195	1	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83359665	83359665	+	Splice_Site	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:83359665C>G	ENST00000262752.2	-	17	1463	c.1455_splice	c.e17-1	p.V486_splice	RPS6KA6_ENST00000543399.1_Splice_Site_p.V486_splice|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	486	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCATCAAAGACCTACAAAAGA	0.294000													4	14					0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228710	228228710	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:228228710G>T	ENST00000304568.3	-	4	457	c.420C>A	c.(418-420)tcC>tcA	p.S140S		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	140						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GCAAGTTGAAGGATTCTGGAT	0.403000													10	42					2.17888e-05	2.27611e-05	1	1	0
CETP	1071	broad.mit.edu	37	16	57003894	57003894	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:57003894C>T	ENST00000200676.3	+	5	638	c.508C>T	c.(508-510)Cat>Tat	p.H170Y	CETP_ENST00000566128.1_Missense_Mutation_p.H105Y|CETP_ENST00000379780.2_Missense_Mutation_p.H170Y|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	170					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GCTGCTCCTGCATCTCCAAGG	0.602000													14	28					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21630916	21630916	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:21630916G>T	ENST00000328843.6	+	14	2419	c.2388G>T	c.(2386-2388)ctG>ctT	p.L796L	DNAH11_ENST00000409508.3_Silent_p.L796L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	796	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACGAGCAGCTGACAGCAGCCA	0.532000									Kartagener syndrome				15	92					2.48551e-13	2.84137e-13	1	1	0
EPS8	2059	broad.mit.edu	37	12	15774346	15774346	+	Nonsense_Mutation	SNP	C	C	A	rs147627051		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:15774346C>A	ENST00000281172.5	-	21	2810	c.2374G>T	c.(2374-2376)Gag>Tag	p.E792*	EPS8_ENST00000540613.1_Nonsense_Mutation_p.E532*|EPS8_ENST00000542903.1_Nonsense_Mutation_p.E532*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.E792*|EPS8_ENST00000543523.1_Nonsense_Mutation_p.E792*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	792					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TCTTGTAACTCGGAGCTGCCA	0.413000													7	22					0.00198382	0.00202511	1	1	0
RPL12P38	645688	broad.mit.edu	37	17	58511076	58511076	+	RNA	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:58511076C>G	ENST00000588627.1	-	0	2281																											AAATATTTTCCTTTGTGCTTA	0.398000													13	9					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43909067	43909067	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:43909067T>A	ENST00000562955.1	+	60	8373	c.8373T>A	c.(8371-8373)caT>caA	p.H2791Q	SZT2_ENST00000372442.1_Missense_Mutation_p.H1949Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2848						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCCTGGTGCATTACTGTGCAA	0.622000													39	84					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495531	71495531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:71495531G>T	ENST00000296755.7	+	5	6647	c.6349G>T	c.(6349-6351)Gaa>Taa	p.E2117*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2117						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAACCCACTGAAGAATCTGA	0.532000													65	121					2.36135e-34	2.848e-34	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11806224	11806224	+	Silent	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:11806224T>A	ENST00000262442.3	+	60	11663	c.11595T>A	c.(11593-11595)gcT>gcA	p.A3865A	DNAH9_ENST00000454412.2_Silent_p.A3865A|DNAH9_ENST00000396001.2_Silent_p.A177A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3865					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGACCTATGCTTTGCGGTAGG	0.597000													38	37					0	0	1	0	0
DUSP12	11266	broad.mit.edu	37	1	161726677	161726677	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:161726677G>C	ENST00000367943.4	+	6	995	c.963G>C	c.(961-963)aaG>aaC	p.K321N	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	321					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)			AAATACATAAGAATAGAGTGG	0.378000													19	67					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505426	70505426	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:70505426G>T	ENST00000310961.5	+	22	4238	c.3820G>T	c.(3820-3822)Gac>Tac	p.D1274Y	LRRC7_ENST00000415775.2_Missense_Mutation_p.D553Y|LRRC7_ENST00000035383.5_Missense_Mutation_p.D1269Y			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1269						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						AATGCCTGCAGACTGGAGACA	0.453000													49	60					2.52991e-16	2.93446e-16	1	1	0
DPM1	8813	broad.mit.edu	37	20	49562398	49562398	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:49562398C>T	ENST00000371582.4	-	4	389	c.358G>A	c.(358-360)Gat>Aat	p.D120N	DPM1_ENST00000371583.5_Missense_Mutation_p.D120N|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371588.5_Missense_Mutation_p.D120N			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	120					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TGTGAGAGATCAGCATCCATA	0.333000													27	76					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70818145	70818145	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:70818145C>G	ENST00000358731.4	+	23	5284	c.5021C>G	c.(5020-5022)tCa>tGa	p.S1674*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1674					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTTCCTAGTTCAGCACAAATG	0.343000													55	137					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399567	89399567	+	RNA	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:89399567G>A	ENST00000479981.1	-	0	162																											TGACTCGCCCGACAAGTGATG	0.488000													43	168					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756392	54756392	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:54756392C>A	ENST00000450632.1	-	10	1545	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	LILRB5_ENST00000345866.6_Missense_Mutation_p.G399W|LILRB5_ENST00000316219.5_Missense_Mutation_p.G498W|LILRB5_ENST00000449561.2_Missense_Mutation_p.G499W			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	498					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCGCAGCCCCTGCAGGACGG	0.607000													62	60					5.10652e-33	6.14453e-33	1	1	0
UTRN	7402	broad.mit.edu	37	6	145157479	145157479	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:145157479C>T	ENST00000367545.3	+	70	9867	c.9867C>T	c.(9865-9867)ctC>ctT	p.L3289L	UTRN_ENST00000367526.4_Silent_p.L844L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3289					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCAGCACCTCCGAAGGGGGC	0.493000													39	202					0	0	1	0	0
TRABD	80305	broad.mit.edu	37	22	50636352	50636352	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:50636352G>A	ENST00000303434.4	+	8	891	c.772G>A	c.(772-774)Gag>Aag	p.E258K	TRABD_ENST00000395829.1_Missense_Mutation_p.E258K|TRABD_ENST00000380909.4_Missense_Mutation_p.E258K|TRABD_ENST00000395827.1_Missense_Mutation_p.E258K	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	258										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		CATCGTCTCGGAGCGCGACGT	0.662000													46	65					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8995847	8995847	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:8995847C>A	ENST00000299698.7	+	12	1546	c.1366C>A	c.(1366-1368)Cac>Aac	p.H456N		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	300						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCTTGGCATCCACCGGCTAAA	0.537000													42	102					3.61848e-18	4.23046e-18	1	1	0
ANO3	63982	broad.mit.edu	37	11	26677928	26677928	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:26677928G>A	ENST00000256737.3	+	26	3515	c.2663G>A	c.(2662-2664)aGa>aAa	p.R888K	ANO3_ENST00000531568.1_Missense_Mutation_p.R742K|ANO3_ENST00000537978.1_Missense_Mutation_p.R872K|ANO3_ENST00000525139.1_Missense_Mutation_p.R872K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	888						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTCAGGTACAGAGACTACAGA	0.398000													22	96					0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58019394	58019394	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:58019394C>T	ENST00000290871.5	+	6	814	c.777C>T	c.(775-777)ctC>ctT	p.L259L	TEPP_ENST00000569996.1_3'UTR|TEPP_ENST00000441824.2_Silent_p.L232L	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	232						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						AGTACTGCCTCAGCCAGAACC	0.682000													9	92					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13695576	13695576	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:13695576G>C	ENST00000202816.1	-	14	2608	c.2501C>G	c.(2500-2502)tCt>tGt	p.S834C		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	834	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GGTTTTTATAGATTTAATCAA	0.308000													13	47					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38345797	38345797	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:38345797T>C	ENST00000373023.2	-	15	1834	c.1741A>G	c.(1741-1743)Act>Gct	p.T581A	INPP5B_ENST00000373024.3_Missense_Mutation_p.T501A|INPP5B_ENST00000373026.1_Missense_Mutation_p.T581A|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.T337A	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	581					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACTTGTAAGTAGGCTGGAAT	0.453000													24	91					0	0	1	0	0
ACADVL	37	broad.mit.edu	37	17	7125568	7125568	+	Silent	SNP	G	G	A	rs149680575		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:7125568G>A	ENST00000356839.5	+	9	1004	c.825G>A	c.(823-825)gtG>gtA	p.V275V	ACADVL_ENST00000543245.2_Silent_p.V298V|ACADVL_ENST00000350303.5_Silent_p.V253V	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	275	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CAGGAGCCGTGAAGGAGAAGA	0.547000													34	33					0	0	1	0	0
METTL12	751071	broad.mit.edu	37	11	62434207	62434207	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:62434207C>G	ENST00000532971.1	+	3	664	c.407C>G	c.(406-408)tCa>tGa	p.S136*	C11orf48_ENST00000431002.2_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000354588.3_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	136						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						CACCCTGCCTCAAGCCTCCAC	0.587000													11	126					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436125	56436125	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:56436125T>A	ENST00000327381.5	+	3	1392	c.1292T>A	c.(1291-1293)aTt>aAt	p.I431N		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	431						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGGGAAGAGATTGTGTTCGAC	0.448000													49	199					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11311045	11311045	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:11311045G>C	ENST00000294618.7	-	47	6051	c.6040C>G	c.(6040-6042)Ctg>Gtg	p.L2014V	DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Missense_Mutation_p.L1353V	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	2014					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGGGGCTGCAGAGCCTCCCGC	0.642000													5	4					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19020721	19020721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:19020721G>T	ENST00000304381.5	+	2	425	c.295G>T	c.(295-297)Gag>Tag	p.E99*	TMC7_ENST00000421369.3_5'UTR|TMC7_ENST00000569532.1_Nonsense_Mutation_p.E99*	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	99						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAACATCTCTGAGAAGCGGAG	0.468000													17	102					1.02788e-11	1.16471e-11	1	1	0
ANKRD19P	138649	broad.mit.edu	37	9	95646194	95646194	+	RNA	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:95646194C>G	ENST00000473204.1	+	0	2110																											CCAGTGTCATCTTGTCTCCTC	0.592000													23	18					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59203754	59203754	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:59203754G>C	ENST00000262717.4	+	8	1698	c.1300G>C	c.(1300-1302)Gga>Cga	p.G434R	CDH20_ENST00000536675.2_Missense_Mutation_p.G434R|CDH20_ENST00000538374.1_Missense_Mutation_p.G434R			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	434	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CAGTGACCCTGGAAGATTTTT	0.413000													33	238					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57287504	57287504	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:57287504G>A	ENST00000543872.2	+	2	356	c.92G>A	c.(91-93)gGa>gAa	p.G31E	SMG8_ENST00000300917.5_Missense_Mutation_p.G31E|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.G31E|SMG8_ENST00000580498.1_3'UTR			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	31					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACTGAGGGCGGAGGGAGCGCG	0.622000													17	48					0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19371426	19371426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:19371426C>A	ENST00000261537.6	+	7	1264	c.1000C>A	c.(1000-1002)Caa>Aaa	p.Q334K	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	334					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTCGCAGTTTCAAGTGGGTGA	0.468000													14	78					4.93089e-13	5.61816e-13	1	1	0
SLC34A3	142680	broad.mit.edu	37	9	140128935	140128935	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:140128935C>T	ENST00000538474.1	+	11	1385	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	SLC34A3_ENST00000361134.2_Silent_p.F387F	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	387					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCTGACCTTCGCACTGCAGA	0.731000													16	14					0	0	1	0	0
GAS1	2619	broad.mit.edu	37	9	89560861	89560861	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:89560861C>G	ENST00000298743.7	-	1	1243	c.834G>C	c.(832-834)gcG>gcC	p.A278A		NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	278					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane				kidney(1)|lung(2)|skin(1)	4						GCTCACCACCCGCGCCCCCGG	0.756000													5	4					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7801912	7801912	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:7801912C>G	ENST00000379562.3	-	12	1107	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q	KIN_ENST00000543003.1_Missense_Mutation_p.E248Q|KIN_ENST00000535925.1_Missense_Mutation_p.E354Q|KIN_ENST00000463666.1_5'UTR			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	354	C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGTACCTTCATTTCCTCTG	0.308000													11	35					0	0	1	0	0
PTRH1	138428	broad.mit.edu	37	9	130476516	130476516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:130476516C>A	ENST00000419060.1	-	6	1964	c.508G>T	c.(508-510)Gag>Tag	p.E170*	C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000423807.1_Silent_p.L154L|C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000543175.1_Nonsense_Mutation_p.E170*			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	170					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						TGAACCGCCTCAGGGTGCGCC	0.662000													11	33					0.010729	0.0108662	1	1	0
GBP3	2635	broad.mit.edu	37	1	89476650	89476650	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:89476650G>C	ENST00000370481.4	-	8	1519	c.1299C>G	c.(1297-1299)ctC>ctG	p.L433L		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	433						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TCTGAATAAAGAGACAATAGC	0.428000													92	71					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977114	30977114	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:30977114C>A	ENST00000262519.8	+	8	2598	c.1912C>A	c.(1912-1914)Cct>Act	p.P638T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	638	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCCACCCAGACCTGATGGGCC	0.662000													8	49					0.000442599	0.000454967	1	1	0
TBC1D32	221322	broad.mit.edu	37	6	121577382	121577382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:121577382C>A	ENST00000275159.6	-	16	1782	c.1783G>T	c.(1783-1785)Gaa>Taa	p.E595*	TBC1D32_ENST00000398212.2_Nonsense_Mutation_p.E595*					TBC1 domain family, member 32																		GAAATATCTTCATCGAGAAGT	0.348000													11	20					0.010729	0.0108662	1	1	0
ATP9A	10079	broad.mit.edu	37	20	50305646	50305646	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:50305646C>G	ENST00000338821.5	-	9	1020	c.756G>C	c.(754-756)ctG>ctC	p.L252L	ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	252					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCTATGCTCAGGCTCTCGC	0.532000													34	327					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18895424	18895424	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:18895424G>C	ENST00000446231.2	-	9	1499	c.1087C>G	c.(1087-1089)Cag>Gag	p.Q363E	SMG1_ENST00000389467.3_Missense_Mutation_p.Q363E|SMG1_ENST00000565224.1_Missense_Mutation_p.Q337E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	363	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCCAGAAACTGACCAAGAAGA	0.368000													6	37					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41510525	41510525	+	Splice_Site	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:41510525C>T	ENST00000377801.3	-	1	178		c.e1+1		PLCXD3_ENST00000328457.3_Splice_Site			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3						intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGCGCGCCTACCTGGAATGGC	0.627000													14	33					0	0	1	0	0
C9orf163	158055	broad.mit.edu	37	9	139379065	139379065	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:139379065G>C	ENST00000354376.1	+	1	1119	c.165G>C	c.(163-165)ggG>ggC	p.G55G		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	55							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		CCCTGGGTGGGAGCCACCCTT	0.726000													13	11					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156778	111156778	+	Nonstop_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:111156778G>C	ENST00000280325.4	+	4	857	c.710G>C	c.(709-711)tGa>tCa	p.*237S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	0										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		AGAGCTTATTGAGGGGAGGGC	0.478000													11	51					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10677751	10677751	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr18:10677751T>A	ENST00000302079.6	-	48	7545	c.7546A>T	c.(7546-7548)Aca>Tca	p.T2516S	PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2604S|PIEZO2_ENST00000538948.1_Missense_Mutation_p.T536S|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T371S|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2579S			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2579						integral to membrane	ion channel activity										TACACTGGTGTTTTTGAACTT	0.348000													9	71					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169208226	169208226	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:169208226G>T	ENST00000393743.3	-	10	1603	c.1312C>A	c.(1312-1314)Ctt>Att	p.L438I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	438							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCTTTTCAAGAAAACAAACT	0.328000													3	21					0.115264	0.115713	1	1	0
ANKRD34B	340120	broad.mit.edu	37	5	79854785	79854785	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:79854785C>A	ENST00000338682.3	-	5	1726	c.1054G>T	c.(1054-1056)Gct>Tct	p.A352S		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	352						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AAGGTGGAAGCAAATATTGTC	0.408000													25	41					8.24728e-16	9.54461e-16	1	1	0
SP140	11262	broad.mit.edu	37	2	231090571	231090571	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:231090571G>T	ENST00000392045.3	+	1	126	c.12G>T	c.(10-12)caG>caT	p.Q4H	SP140_ENST00000417495.3_Missense_Mutation_p.Q4H|SP140_ENST00000343805.6_Missense_Mutation_p.Q4H|SP140_ENST00000350136.5_5'UTR|SP140_ENST00000420434.3_Missense_Mutation_p.Q4H|SP140_ENST00000373645.3_Missense_Mutation_p.Q4H|SP140_ENST00000486687.2_Missense_Mutation_p.Q4H	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	4					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGCCCAGCAGGGCCAGCAGG	0.577000													9	71					5.4927e-09	6.05079e-09	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35644520	35644520	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:35644520C>G	ENST00000440995.2	+	4	478	c.478C>G	c.(478-480)Caa>Gaa	p.Q160E	SPEF2_ENST00000509059.1_Missense_Mutation_p.Q160E|SPEF2_ENST00000282469.6_Missense_Mutation_p.Q160E|SPEF2_ENST00000356031.3_Missense_Mutation_p.Q160E			Q9C093	SPEF2_HUMAN	sperm flagellar 2	160					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATACAGGTTTCAAGAAAAATA	0.313000													3	21					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62698291	62698291	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:62698291C>T	ENST00000395053.3	+	3	314	c.159C>T	c.(157-159)gtC>gtT	p.V53V	TCEA2_ENST00000343484.5_Silent_p.V53V|TCEA2_ENST00000361317.2_Silent_p.V26V|TCEA2_ENST00000465111.1_3'UTR			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	53	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGATGTCTGTCAACGCCCTTC	0.622000													5	52					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6260446	6260446	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:6260446G>A	ENST00000379936.2	+	1	125	c.10G>A	c.(10-12)Gac>Aac	p.D4N	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	4					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGAGCCAGGACACCAAAGT	0.577000													13	91					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59102531	59102531	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:59102531A>G	ENST00000559228.1	+	4	1148	c.1066A>G	c.(1066-1068)Ata>Gta	p.I356V	FAM63B_ENST00000450403.2_Missense_Mutation_p.I356V			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	356										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACCAGAATGCATAGTATTTGA	0.368000													25	32					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89856492	89856492	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:89856492G>T	ENST00000287908.3	+	3	1093	c.700G>T	c.(700-702)Gat>Tat	p.D234Y	STEAP2_ENST00000394621.2_Missense_Mutation_p.D234Y|STEAP2_ENST00000394626.1_Missense_Mutation_p.D234Y|STEAP2_ENST00000402625.2_Missense_Mutation_p.D234Y|STEAP2_ENST00000394632.1_Missense_Mutation_p.D234Y|STEAP2_ENST00000394629.2_Missense_Mutation_p.D234Y|STEAP2_ENST00000394622.2_Missense_Mutation_p.D234Y	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	234					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTTGTCAGAGATGTGATTCA	0.378000													7	60					2.0095e-06	2.136e-06	1	1	0
METTL12	751071	broad.mit.edu	37	11	62434518	62434518	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:62434518C>T	ENST00000532971.1	+	3	975	c.718C>T	c.(718-720)Cat>Tat	p.H240Y	C11orf48_ENST00000431002.2_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000354588.3_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	240						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TCAAGGCTCTCATTAAAGACA	0.493000													29	118					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372503	126372503	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:126372503C>T	ENST00000394329.3	+	9	10345	c.10332C>T	c.(10330-10332)atC>atT	p.I3444I	FAT4_ENST00000335110.5_Silent_p.I1742I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3444	Cadherin 33.				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						CTTACTTCATCGGATCAGGGA	0.463000													25	94					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103406196	103406196	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:103406196G>A	ENST00000361246.2	-	33	4968	c.4680C>T	c.(4678-4680)gtC>gtT	p.V1560V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1560					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTTCCTCTGGGACCTTGAAGA	0.622000													35	216					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81050910	81050910	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:81050910C>T	ENST00000334512.5	+	10	1307	c.735C>T	c.(733-735)ccC>ccT	p.P245P	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	245					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCAACTACCCCGGCAGCGGGG	0.652000													9	39					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49394997	49394997	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:49394997C>A	ENST00000419783.1	-	2	757	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	GPX1_ENST00000419349.1_3'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	146					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	AGCTTGGGGTCGGTCATAAGC	0.647000													21	104					1.22574e-08	1.34596e-08	1	1	0
HIPK1	204851	broad.mit.edu	37	1	114516088	114516088	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:114516088G>C	ENST00000369558.1	+	16	3819	c.3587G>C	c.(3586-3588)gGa>gCa	p.G1196A	HIPK1_ENST00000426820.2_Missense_Mutation_p.G1196A|HIPK1_ENST00000406344.1_Missense_Mutation_p.G802A|HIPK1_ENST00000369555.2_Missense_Mutation_p.G1151A|HIPK1_ENST00000369561.4_Missense_Mutation_p.G1162A|HIPK1_ENST00000340480.4_Missense_Mutation_p.G822A|HIPK1_ENST00000369553.1_Missense_Mutation_p.G802A|HIPK1_ENST00000369554.2_Missense_Mutation_p.G1151A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTACACTGGATACCCGCTG	0.537000													32	123					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945232	4945232	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:4945232T>G	ENST00000321961.2	-	1	405	c.338A>C	c.(337-339)gAg>gCg	p.E113A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACTGATGACTCCATTGAAGA	0.507000													23	90					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80445444	80445444	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:80445444C>T	ENST00000407106.1	+	2	203	c.48C>T	c.(46-48)aaC>aaT	p.N16N	FAH_ENST00000561421.1_Silent_p.N16N|FAH_ENST00000261755.5_Silent_p.N16N			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	16			N -> I (in TYRO1; loss of activity).		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						CCATCCACAACCTGCCCTACG	0.667000									Tyrosinemia, type 1				9	97					0	0	1	0	0
CLEC12B	387837	broad.mit.edu	37	12	10163368	10163368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:10163368G>A	ENST00000396502.1	+	1	138	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CLEC1B_ENST00000428126.2_Intron|CLEC12B_ENST00000338896.5_Missense_Mutation_p.E4K	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	4						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						AATGTCTGAAGAAGTGACCTA	0.403000													8	38					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118420694	118420694	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:118420694C>G	ENST00000369443.4	-	13	1632	c.1383G>C	c.(1381-1383)ctG>ctC	p.L461L	GDAP2_ENST00000369442.3_Silent_p.L461L	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	461	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGGCAGAAAACAGCTGGTGGA	0.438000													16	38					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33820487	33820487	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:33820487G>C	ENST00000257118.5	-	7	1397	c.1344C>G	c.(1342-1344)ttC>ttG	p.F448L	PHC2_ENST00000373422.3_Missense_Mutation_p.F53L|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.F448L|PHC2_ENST00000431992.1_Missense_Mutation_p.F419L|RP11-415J8.5_ENST00000432703.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	448					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	p.F448L(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGTGTGCTGGAACCTGCGTT	0.617000													28	69					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30365413	30365413	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:30365413C>G	ENST00000340513.4	+	9	1382	c.854C>G	c.(853-855)tCt>tGt	p.S285C	TPX2_ENST00000300403.6_Missense_Mutation_p.S285C			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	285					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AACTTTACATCTGAACTACGA	0.388000													13	67					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151278794	151278794	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:151278794C>T	ENST00000368875.2	-	6	1844	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	PI4KB_ENST00000368873.1_Missense_Mutation_p.D410N|PI4KB_ENST00000529142.1_Missense_Mutation_p.D78N|PI4KB_ENST00000368874.4_Missense_Mutation_p.D395N|PI4KB_ENST00000271657.5_Missense_Mutation_p.D422N|PI4KB_ENST00000368872.1_Missense_Mutation_p.D395N	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	410					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGTGGTGTCAAAGTTTTCA	0.507000													26	80					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47288923	47288923	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:47288923C>T	ENST00000335044.2	-	12	1530	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	KIF9_ENST00000452770.2_Silent_p.Q391Q|KIF9_ENST00000352910.4_Silent_p.Q298Q|KIF9_ENST00000444589.2_Silent_p.Q391Q|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.Q391Q	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	391					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCTCAGCAATCTGGATTTCAT	0.542000													17	68					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17406291	17406291	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:17406291G>A	ENST00000470360.1	+	6	874	c.757G>A	c.(757-759)Gga>Aga	p.G253R	SLC7A2_ENST00000398090.3_Missense_Mutation_p.G253R|SLC7A2_ENST00000494857.1_Missense_Mutation_p.G213R|SLC7A2_ENST00000522656.1_Missense_Mutation_p.G213R|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G253R			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	213					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTTGTGAAAGGAAATGTGGC	0.358000													11	94					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131893034	131893034	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:131893034G>C	ENST00000265335.6	+	1	405	c.18G>C	c.(16-18)aaG>aaC	p.K6N	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	6					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGATCGAAAAGATGAGCATTC	0.498000								Homologous recombination					18	56					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125299	104125299	+	Splice_Site	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:104125299T>A	ENST00000259407.2	-	4	778		c.e4-2		BAAT_ENST00000395051.3_Splice_Site	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)						acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GCCAAAGACCTGAAAAAAATA	0.393000													7	31					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113919791	113919791	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:113919791G>C	ENST00000348367.4	-	17	1977	c.1780C>G	c.(1780-1782)Ctg>Gtg	p.L594V	GPAM_ENST00000423155.1_Missense_Mutation_p.L594V|GPAM_ENST00000369425.1_Missense_Mutation_p.L594V			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	594					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CTCTTGTTCAGAACTGCATAA	0.507000													15	68					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45997432	45997432	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:45997432C>A	ENST00000245923.4	-	4	1041	c.806G>T	c.(805-807)cGc>cTc	p.R269L	RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.R269L|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	269						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ACCTAGAAGGCGTGGCTCCAC	0.517000													81	74					1.3515e-34	1.63194e-34	1	1	0
AMPH	273	broad.mit.edu	37	7	38530661	38530661	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:38530661G>A	ENST00000356264.2	-	5	600	c.385C>T	c.(385-387)Cct>Tct	p.P129S	AMPH_ENST00000428293.2_Missense_Mutation_p.P129S|AMPH_ENST00000325590.5_Missense_Mutation_p.P129S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	129	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.P129S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTTATGTCAGGAAATTGCCCC	0.398000													25	163					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35376139	35376139	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:35376139G>A	ENST00000378495.3	+	14	1705	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E507K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E495K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	495					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTATGAGTGTGAAGGCCTGCT	0.552000													18	204					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114157248	114157248	+	Silent	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:114157248A>T	ENST00000369615.1	+	7	1106	c.1044A>T	c.(1042-1044)atA>atT	p.I348I	MAGI3_ENST00000369611.4_Silent_p.I348I|MAGI3_ENST00000369617.4_Silent_p.I348I|MAGI3_ENST00000307546.9_Silent_p.I348I	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	348	WW 2.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAGAAAATAGAGGACCCTC	0.348000													32	56					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38305895	38305895	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:38305895C>T	ENST00000374618.3	+	3	284	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	ZNF33A_ENST00000432900.2_Silent_p.L43L|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000458705.2_Silent_p.L36L|ZNF33A_ENST00000469037.2_Silent_p.L36L|ZNF33A_ENST00000307441.9_Silent_p.L36L	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	36	KRAB.					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						TCAGAGGGCTCTGTATAGAGA	0.453000													17	89					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78766913	78766913	+	Splice_Site	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:78766913C>A	ENST00000436010.2	-	4	1658	c.661_splice	c.e4+1	p.E221_splice	ROBO1_ENST00000467549.1_Splice_Site_p.E221_splice|ROBO1_ENST00000464233.1_Splice_Site_p.E260_splice|ROBO1_ENST00000495273.1_Splice_Site_p.E221_splice			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	260	Ig-like C2-type 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTACACTTACCTAAGACAGTC	0.363000													5	10					0.014758	0.0149173	1	1	0
UPF2	26019	broad.mit.edu	37	10	11997368	11997368	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:11997368C>A	ENST00000356352.2	-	13	3186	c.2713G>T	c.(2713-2715)Ggc>Tgc	p.G905C	UPF2_ENST00000357604.5_Missense_Mutation_p.G905C|UPF2_ENST00000397053.2_Missense_Mutation_p.G905C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	905	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTGGAGAGCCATCAGGATTA	0.428000													16	67					1.99824e-07	2.15742e-07	1	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74575185	74575185	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:74575185C>T	ENST00000354431.4	-	5	951	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E254K|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.E146K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	254										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CATTTTGCTTCATATCCTCTA	0.323000													17	24					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192172	125192172	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:125192172G>T	ENST00000431078.1	+	5	1005	c.641G>T	c.(640-642)gGa>gTa	p.G214V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	214	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCATGCAAGGAGATGGGGTC	0.512000													10	58					7.48243e-07	8.00301e-07	1	1	0
KDM2B	84678	broad.mit.edu	37	12	121987442	121987442	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:121987442G>A	ENST00000377069.4	-	5	812	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	KDM2B_ENST00000536437.1_Missense_Mutation_p.R50W|KDM2B_ENST00000377071.4_Missense_Mutation_p.R167W|KDM2B_ENST00000538046.2_Missense_Mutation_p.R167W	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	167					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCTTGTCCCGCTGGGCCTCG	0.607000													32	74					0	0	1	0	0
TIMM22	29928	broad.mit.edu	37	17	902081	902081	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:902081G>A	ENST00000327158.3	+	2	327	c.301G>A	c.(301-303)Gac>Aac	p.D101N		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	101					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGTGGGCTTTGACCCTAAGGA	0.488000													27	75					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4702109	4702109	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:4702109C>T	ENST00000262960.9	-	9	1219	c.942G>A	c.(940-942)gtG>gtA	p.V314V	DPP9_ENST00000597849.1_Silent_p.V314V|DPP9_ENST00000594671.1_Silent_p.V285V|DPP9_ENST00000598800.1_Silent_p.V285V	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	285					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GAATGACCTCCACCTCGGACT	0.592000													26	42					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18219223	18219223	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:18219223G>A	ENST00000406438.3	+	1	600	c.120G>A	c.(118-120)caG>caA	p.Q40Q		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	40										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCGCCAGTCAGGGTGCTAACC	0.547000													22	103					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508735	37508735	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:37508735C>G	ENST00000374660.1	+	40	4383	c.4284C>G	c.(4282-4284)ctC>ctG	p.L1428L	ANKRD30A_ENST00000602533.1_Silent_p.L1309L|ANKRD30A_ENST00000361713.1_Silent_p.L1309L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1365						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACATCATCTCCTAAAAGAGA	0.299000													3	16					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879506	27879506	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:27879506C>G	ENST00000303324.2	-	1	668	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGAATAGTTCAGCCTCATTT	0.438000													53	71					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66982457	66982457	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:66982457C>T	ENST00000340001.4	-	32	4267	c.4056G>A	c.(4054-4056)ttG>ttA	p.L1352L	ABCA9_ENST00000453985.2_Silent_p.L1314L|ABCA9_ENST00000370732.2_Silent_p.L1352L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1352	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CGCTCCCTTTCAAAATCACCT	0.502000													9	60					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581152	234581152	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:234581152C>A	ENST00000354728.4	+	1	654	c.572C>A	c.(571-573)cCc>cAc	p.P191H	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1												p.P191H(1)|p.P191L(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TCCTATGTCCCCAGAATTCTC	0.483000													39	174					4.01765e-15	4.63402e-15	1	1	0
FIGN	55137	broad.mit.edu	37	2	164466371	164466371	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:164466371C>T	ENST00000333129.3	-	3	2285	c.1971G>A	c.(1969-1971)gcG>gcA	p.A657A	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	657						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCTGGTGCCTCGCTGTGCTGT	0.458000													11	51					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186360269	186360269	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:186360269C>G	ENST00000265029.3	+	3	447	c.346C>G	c.(346-348)Caa>Gaa	p.Q116E	FETUB_ENST00000450521.1_Missense_Mutation_p.Q116E|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000382136.3_Missense_Mutation_p.Q79E|FETUB_ENST00000488561.1_Intron|FETUB_ENST00000382134.3_Intron	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	116	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GGTTTATGGTCAATGCAAAGC	0.328000													37	78					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554205	85554205	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:85554205G>A	ENST00000377386.3	-	2	1112	c.650C>T	c.(649-651)cCa>cTa	p.P217L	TGOLN2_ENST00000398263.2_Missense_Mutation_p.P217L|TGOLN2_ENST00000409232.3_Missense_Mutation_p.P217L|TGOLN2_ENST00000282120.2_Missense_Mutation_p.P119L|TGOLN2_ENST00000444342.2_Missense_Mutation_p.P217L|TGOLN2_ENST00000409015.1_Missense_Mutation_p.P217L			O43493	TGON2_HUMAN	trans-golgi network protein 2	217	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										GCCGTCTTTTGGAGTCTGCTT	0.607000													61	274					0	0	1	0	0
ANKRD45	339416	broad.mit.edu	37	1	173616051	173616051	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:173616051C>G	ENST00000333279.2	-	3	490	c.430G>C	c.(430-432)Gaa>Caa	p.E144Q		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	160										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CGAGCCCTTTCTTCCCGGAAG	0.468000													49	132					0	0	1	0	0
CAMK2N2	94032	broad.mit.edu	37	3	183978007	183978007	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:183978007C>G	ENST00000296238.3	-	2	355	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	60	Inhibitory domain (By similarity).					cytosol|nucleus	protein kinase inhibitor activity					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			CGGTCATCCTCGATCACCACT	0.716000													5	71					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36584997	36584997	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:36584997G>A	ENST00000401500.2	+	20	2433	c.2398G>A	c.(2398-2400)Gat>Aat	p.D800N	WDR62_ENST00000270301.7_Missense_Mutation_p.D800N	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	800					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCAAACAGAGGATGATCTGGA	0.483000													44	225					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739309	138739309	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:138739309C>A	ENST00000329447.5	-	1	459	c.195G>T	c.(193-195)gcG>gcT	p.A65A	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	65								p.A65A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCACAGCCCGCGGCCAGGA	0.726000													18	56					3.32936e-07	3.57958e-07	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60897353	60897353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:60897353G>C	ENST00000252999.3	-	47	6384	c.6318C>G	c.(6316-6318)taC>taG	p.Y2106*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2106	Laminin EGF-like 21.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGCCCCCAGTAGCCAGGGG	0.711000													5	28					0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75175818	75175818	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:75175818G>A	ENST00000417775.1	-	7	1098	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CRYZ_ENST00000340866.5_Silent_p.F198F|CRYZ_ENST00000370872.3_Silent_p.F61F|CRYZ_ENST00000370871.3_Silent_p.F198F	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	198					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CTCTGTGATTGAACACTTCAT	0.363000													6	27					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075343	76075343	+	RNA	SNP	G	G	A	rs79164384	byFrequency	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:76075343G>A	ENST00000395215.3	+	0	983																											GGAGCAGGACGAGAGGCTCCG	0.572000													5	70					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100868681	100868681	+	Silent	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:100868681A>T	ENST00000369208.3	-	10	1934	c.1152T>A	c.(1150-1152)acT>acA	p.T384T	SIM1_ENST00000262901.4_Silent_p.T384T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	384	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTATGGGGAAGTCCTGGATT	0.458000													40	40					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140674100	140674100	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:140674100C>T	ENST00000460843.1	+	14	2233	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R736C|EHMT1_ENST00000334856.6_Missense_Mutation_p.R705C	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	736					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAAGAAGCTTCGCTTCCACCC	0.602000													15	48					0	0	1	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44016850	44016850	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:44016850G>C	ENST00000398823.2	+	5	385	c.310G>C	c.(310-312)Gac>Cac	p.D104H	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D104H|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.D104H|DYNC2LI1_ENST00000260605.8_Missense_Mutation_p.D104H			Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	104						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATCACAGGTGACACCTTACG	0.433000													16	81					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565457	156565457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:156565457C>T	ENST00000368232.4	-	8	793	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000438976.2_Missense_Mutation_p.E226K	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	221						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)					TCATTCCTTTCAGATGCTGTA	0.478000													31	162					0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145154326	145154326	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:145154326G>A	ENST00000398712.2	-	6	1212	c.776C>T	c.(775-777)tCa>tTa	p.S259L		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	259	Interaction with SHANK1 (By similarity).|Ubiquitin-like.				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCGAGCTCTGAGAACACCTG	0.657000													24	42					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17531782	17531782	+	Missense_Mutation	SNP	G	G	A	rs61741697	byFrequency	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:17531782G>A	ENST00000375471.4	+	1	162	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	24					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTGGGAGTCGAGGCACATGT	0.582000													10	50					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919946	58919946	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:58919946G>C	ENST00000528737.1	+	5	3623	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	FAM111A_ENST00000531147.1_Missense_Mutation_p.E269Q|FAM111A_ENST00000361723.3_Missense_Mutation_p.E269Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.E269Q|FAM111A_ENST00000420244.1_Missense_Mutation_p.E269Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	269					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GGTTGAGGTTGAGAAAAGAAT	0.438000													24	119					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35208839	35208839	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr21:35208839G>A	ENST00000381318.3	+	29	3852	c.3564G>A	c.(3562-3564)gaG>gaA	p.E1188E	ITSN1_ENST00000379960.5_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.E1183E|ITSN1_ENST00000399367.3_Silent_p.E1183E|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.E1188E|ITSN1_ENST00000399353.1_Silent_p.E1146E|ITSN1_ENST00000399349.1_Silent_p.E1112E|ITSN1_ENST00000381291.4_Silent_p.E1188E|ITSN1_ENST00000399355.2_Silent_p.E1117E|ITSN1_ENST00000399352.1_Silent_p.E1183E	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1188	SH3 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCAACAAGGAGGACCCTGACT	0.527000													22	117					0	0	1	0	0
VKORC1	79001	broad.mit.edu	37	16	31105701	31105701	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:31105701C>T	ENST00000394971.3	-	1	169	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|RP11-196G11.1_ENST00000529564.1_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCCCTTGCCTCGCACTCTTAT	0.612000													23	134					0	0	1	0	0
KATNBL1	79768	broad.mit.edu	37	15	34455834	34455834	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:34455834T>C	ENST00000256544.3	-	2	186	c.44A>G	c.(43-45)aAt>aGt	p.N15S		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1																		CTCAATCTTATTACAAAAGTT	0.294000													4	22					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2438277	2438277	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:2438277C>A	ENST00000325327.3	-	4	630	c.568G>T	c.(568-570)Ggt>Tgt	p.G190C	LMNB2_ENST00000582871.1_Missense_Mutation_p.G170C			Q03252	LMNB2_HUMAN	lamin B2	170	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity	p.G170C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		ACTGCATGACCGTCCTCGGCC	0.612000													23	37					7.41877e-09	8.16382e-09	1	1	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244954	1244954	+	RNA	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:1244954G>A	ENST00000581398.1	+	0	908				CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA	NR_033339.1																						TCTGTCCACTGTCCTGGCTTG	0.577000													8	23					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777848	110777848	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:110777848G>A	ENST00000368919.3	-	2	492	c.426C>T	c.(424-426)acC>acT	p.T142T	SLC22A16_ENST00000456137.2_Silent_p.T142T|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000330550.4_Silent_p.T108T|SLC22A16_ENST00000439654.1_Silent_p.T142T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	142					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GGTTCCACTGGGTCACCGCAG	0.468000													57	59					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28119541	28119541	+	Splice_Site	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:28119541C>T	ENST00000263181.6	-	2	245		c.e2-1			NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A						blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GAATACTTCTCTGAAATTAAA	0.294000													14	62					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147350	145147350	+	Missense_Mutation	SNP	C	C	T	rs67785676		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:145147350C>T	ENST00000558170.2	-	10	4497	c.3313G>A	c.(3313-3315)Gag>Aag	p.E1105K	ZEB2_ENST00000409487.3_Missense_Mutation_p.E1105K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1081K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1105K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1105	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATCAGCAGCTCGGTGGGTTCC	0.617000													19	130					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939673	12939673	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:12939673T>A	ENST00000235349.5	-	4	1199	c.1129A>T	c.(1129-1131)Agc>Tgc	p.S377C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	377										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)		AAGCAGCGGCTCAGGGCAGGC	0.498000													59	360					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468373	66468373	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:66468373C>T	ENST00000533211.1	-	17	3528	c.3197G>A	c.(3196-3198)cGg>cAg	p.R1066Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1066Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1066Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1066					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCCTGCAGCCGCCGCGCCTC	0.677000													6	53					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947054	237947054	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:237947054C>G	ENST00000366574.2	+	90	12359	c.12042C>G	c.(12040-12042)ctC>ctG	p.L4014L	RYR2_ENST00000542537.1_Silent_p.L3998L|RYR2_ENST00000360064.6_Silent_p.L4020L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4014					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)			AGATGATTCTCAAATTTTTTG	0.398000													6	31					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	346454	346454	+	Missense_Mutation	SNP	C	C	T	rs140951084	byFrequency	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:346454C>T	ENST00000343164.4	-	6	618	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R97Q	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	189					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CAAGACCCGCCGCCTGGGGAG	0.622000													8	98					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639372	97639372	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:97639372C>T	ENST00000298440.1	-	4	885	c.642G>A	c.(640-642)gtG>gtA	p.V214V	OXGR1_ENST00000543457.1_Silent_p.V214V	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	214						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AGCAAAGTGTCACTATCACCA	0.473000													20	114					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50213476	50213476	+	RNA	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:50213476C>G	ENST00000376025.2	-	0	261							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAGGTCGCCTCTGGACAGGGA	0.657000													35	88					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982019	61982019	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:61982019G>C	ENST00000370263.4	-	5	965	c.744C>G	c.(742-744)atC>atG	p.I248M	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	248					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGATGAGGTTGATGGTGTAGA	0.592000													7	117					0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3452086	3452086	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:3452086G>C	ENST00000268655.4	+	1	667	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	ZNF174_ENST00000344823.5_Missense_Mutation_p.E28Q|ZNF174_ENST00000572544.1_Missense_Mutation_p.E28Q|ZNF174_ENST00000571936.1_Missense_Mutation_p.E28Q|ZNF174_ENST00000575752.1_Missense_Mutation_p.E28Q|LA16c-306E5.2_ENST00000575785.1_RNA	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	28					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AGCCAAACTAGAAGAGAAACG	0.488000													18	416					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9968409	9968409	+	Silent	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:9968409G>C	ENST00000264833.4	-	3	527	c.342C>G	c.(340-342)ctC>ctG	p.L114L	OLFM2_ENST00000590841.1_Silent_p.L36L	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	114						extracellular region		p.L114L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCTTGGCCGAGAGGGACCCAT	0.572000													12	58					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206592651	206592651	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:206592651G>T	ENST00000360409.3	+	7	1818	c.1027G>T	c.(1027-1029)Gca>Tca	p.A343S	NRP2_ENST00000412873.2_Missense_Mutation_p.A343S|NRP2_ENST00000540841.1_Missense_Mutation_p.A343S|NRP2_ENST00000357785.5_Missense_Mutation_p.A343S|NRP2_ENST00000355117.4_Missense_Mutation_p.A343S|NRP2_ENST00000540178.1_Missense_Mutation_p.A343S|NRP2_ENST00000272849.3_Missense_Mutation_p.A343S|NRP2_ENST00000357118.4_Missense_Mutation_p.A343S|NRP2_ENST00000417189.1_Missense_Mutation_p.A343S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	343	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CACGGCCATCGCAACACAGGG	0.507000													14	21					6.31663e-08	6.87751e-08	1	1	0
FN1	2335	broad.mit.edu	37	2	216230280	216230280	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:216230280C>T	ENST00000354785.4	-	43	7461	c.7092G>A	c.(7090-7092)atG>atA	p.M2364I	FN1_ENST00000323926.6_Missense_Mutation_p.M2333I|FN1_ENST00000345488.5_Missense_Mutation_p.M2071I|FN1_ENST00000336916.4_Missense_Mutation_p.M2242I|FN1_ENST00000446046.1_Missense_Mutation_p.M2217I|FN1_ENST00000443816.1_Missense_Mutation_p.M2152I|FN1_ENST00000356005.4_Missense_Mutation_p.M2183I|FN1_ENST00000346544.3_Missense_Mutation_p.M2098I|FN1_ENST00000357867.4_Missense_Mutation_p.M2063I|FN1_ENST00000359671.1_Missense_Mutation_p.M2273I|FN1_ENST00000421182.1_Missense_Mutation_p.M2127I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000432072.2_Missense_Mutation_p.M2154I			P02751	FINC_HUMAN	fibronectin 1	2273					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAGCTCATCATCTGGCCAT	0.468000													66	127					0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3772789	3772789	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:3772789T>A	ENST00000381771.2	-	15	1594	c.1447A>T	c.(1447-1449)Acc>Tcc	p.T483S	CAMKK1_ENST00000158166.5_Missense_Mutation_p.T483S|CAMKK1_ENST00000381769.2_Missense_Mutation_p.T472S|CAMKK1_ENST00000348335.2_Missense_Mutation_p.T445S			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	445					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACCACCGTGGTCCAGCTGGGG	0.642000													59	53					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80623121	80623121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:80623121C>T	ENST00000458043.2	+	7	553	c.547C>T	c.(547-549)Cga>Tga	p.R183*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.R183*	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAGGAAATTCGAATTTATGG	0.348000													8	50					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84534654	84534654	+	RNA	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:84534654C>T	ENST00000527857.1	+	0	4676					NR_026851.1																						CCCCACTTGTCAGCGTCAAGT	0.488000													4	1					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161479719	161479719	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:161479719G>A	ENST00000271450.6	+	4	512	c.474G>A	c.(472-474)caG>caA	p.Q158Q	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.Q157Q	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	158	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATTCTTCCAGAATGGAAAAT	0.512000													14	103					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950424	235950424	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:235950424C>G	ENST00000409212.1	+	4	1518	c.1011C>G	c.(1009-1011)atC>atG	p.I337M	SH3BP4_ENST00000344528.4_Missense_Mutation_p.I337M|SH3BP4_ENST00000392011.2_Missense_Mutation_p.I337M			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	337					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ACACCAGCATCAGCATCCACG	0.637000													10	82					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33518226	33518226	+	Splice_Site	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:33518226G>C	ENST00000404816.2	+	20	3465		c.e20-1		LTBP1_ENST00000498013.1_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000272273.5_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site|LTBP1_ENST00000404525.1_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CATTCTTCAAGATGTGGACGA	0.408000													6	18					0	0	1	0	0
SH3BP2	6452	broad.mit.edu	37	4	2831838	2831838	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:2831838T>A	ENST00000442312.2	+	8	1468	c.1289T>A	c.(1288-1290)cTg>cAg	p.L430Q	SH3BP2_ENST00000503393.2_Missense_Mutation_p.L459Q|SH3BP2_ENST00000511747.1_Missense_Mutation_p.L402Q|SH3BP2_ENST00000452765.2_Missense_Mutation_p.L402Q|SH3BP2_ENST00000435136.2_Missense_Mutation_p.L402Q|SH3BP2_ENST00000356331.5_Missense_Mutation_p.L402Q	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	402					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCCGCAGTCCTGCCCAGGCCA	0.701000									Cherubism				8	42					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714240	70714240	+	RNA	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:70714240C>G	ENST00000530196.1	-	0	278					NR_003951.1																						TGATCACCTTCAAGGGGATCA	0.517000													37	166					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79996944	79996944	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:79996944G>A	ENST00000360280.3	+	68	9390	c.9130G>A	c.(9130-9132)Gaa>Aaa	p.E3044K	VPS13A_ENST00000376636.3_Missense_Mutation_p.E3005K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E3044K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E3044K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3044					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTTCTTCAATGAAGATGGAGT	0.338000													16	23					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54614665	54614665	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:54614665C>A	ENST00000302287.3	+	3	678	c.272C>A	c.(271-273)cCg>cAg	p.P91Q	VSTM2A_ENST00000407838.3_Missense_Mutation_p.P91Q|VSTM2A_ENST00000402026.2_Missense_Mutation_p.P90Q|VSTM2A_ENST00000402613.3_Missense_Mutation_p.P91Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.P91Q|VSTM2A_ENST00000498834.1_3'UTR			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	91	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GACAGAGACCCGGACAGCGAC	0.726000													25	99					3.69857e-22	4.39391e-22	1	1	0
ZSCAN21	7589	broad.mit.edu	37	7	99661578	99661578	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:99661578C>T	ENST00000292450.4	+	4	924	c.760C>T	c.(760-762)Ctt>Ttt	p.L254F	ZSCAN21_ENST00000477297.1_Intron|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.L254F|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.L254F	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	254					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AAAACCCCCTCTTCAAGAGGC	0.438000													14	78					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	416662	416662	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:416662G>C	ENST00000399788.2	-	23	4250	c.3888C>G	c.(3886-3888)atC>atG	p.I1296M	KDM5A_ENST00000382815.4_Missense_Mutation_p.I1296M	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1296					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTTCTGCACTGATGATCTTTT	0.433000			T	NUP98	AML								36	73					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31712995	31712995	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:31712995C>T	ENST00000320027.5	-	16	2475	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	HSPH1_ENST00000380405.4_Missense_Mutation_p.E667K|HSPH1_ENST00000380406.5_Missense_Mutation_p.E670K|HSPH1_ENST00000429785.2_Missense_Mutation_p.E530K|HSPH1_ENST00000445273.2_Missense_Mutation_p.E713K	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	711					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTTGGCCGTTCTTCAGCTTCC	0.328000													31	64					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50040705	50040705	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:50040705C>G	ENST00000335154.5	-	25	3192	c.2959G>C	c.(2959-2961)Gag>Cag	p.E987Q	FMNL3_ENST00000550488.1_Missense_Mutation_p.E986Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.E936Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.E987Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	987					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCCTTCCCCTCATAAACAGGC	0.582000													19	59					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208295	113208295	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:113208295C>G	ENST00000401783.2	-	26	4621	c.4285G>C	c.(4285-4287)Gat>Cat	p.D1429H	SVEP1_ENST00000302728.8_Missense_Mutation_p.D1429H|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1406H|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1429					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTTCAAAATCCAGGTTAAAG	0.433000													11	28					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222833604	222833604	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:222833604G>A	ENST00000344922.5	+	24	5086	c.5061G>A	c.(5059-5061)gtG>gtA	p.V1687V	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Silent_p.V565V|MIA3_ENST00000344441.6_Silent_p.V1687V	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1687	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCACCTGTGAGACCTCTCT	0.488000													9	59					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123472170	123472170	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:123472170C>T	ENST00000280562.5	-	21	3338	c.3133G>A	c.(3133-3135)Gag>Aag	p.E1045K	PITPNM2_ENST00000542749.1_Missense_Mutation_p.E1051K|PITPNM2_ENST00000392428.1_Missense_Mutation_p.E772K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E1051K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	0					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TAGAGCCACTCGCCTGAGGGC	0.652000													10	56					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15225920	15225920	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr9:15225920G>A	ENST00000355694.2	-	3	402	c.168C>T	c.(166-168)gtC>gtT	p.V56V	TTC39B_ENST00000507993.1_Intron|TTC39B_ENST00000541445.1_Silent_p.V56V|TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000380850.4_Silent_p.V122V|TTC39B_ENST00000512701.1_Silent_p.V122V	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	56							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTGACCTGCTGACAGTAGACG	0.493000													12	122					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850751	167850751	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:167850751C>G	ENST00000265293.4	+	11	1990	c.1488C>G	c.(1486-1488)ggC>ggG	p.G496G	WWC1_ENST00000521089.1_Silent_p.G496G	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	496					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGCCCTCAGGCTGCATCACCA	0.632000													40	35					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89937157	89937157	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:89937157A>G	ENST00000389297.4	+	21	2790	c.2539A>G	c.(2539-2541)Aaa>Gaa	p.K847E	C7orf63_ENST00000316089.8_Missense_Mutation_p.K801E|C7orf63_ENST00000497910.1_Missense_Mutation_p.K829E	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	847							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATCAAACGCTAAAACGTTAAA	0.333000													6	30					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935073	30935073	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:30935073C>A	ENST00000355537.3	+	2	751	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCTGCACGAGCTGGAGGAGCG	0.701000													5	22					0.014758	0.0149173	1	1	0
GPC3	2719	broad.mit.edu	37	X	132795805	132795805	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:132795805C>G	ENST00000370818.3	-	6	1811	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q	GPC3_ENST00000543339.1_Missense_Mutation_p.E402Q|GPC3_ENST00000394299.2_Missense_Mutation_p.E479Q	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	456						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACCACTGGCTCAGGGCCCTTC	0.368000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				8	30					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58616808	58616808	+	Splice_Site	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:58616808C>G	ENST00000317147.5	-	10	1266		c.e10-1		CNOT1_ENST00000569240.1_Splice_Site|CNOT1_ENST00000441024.2_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGAAATACTCTGTAGAAGTA	0.378000													22	59					0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140048544	140048544	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:140048544C>G	ENST00000326232.9	-	10	1109	c.906G>C	c.(904-906)ttG>ttC	p.L302F	SLC37A3_ENST00000340308.3_Missense_Mutation_p.L302F|SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000447932.2_Missense_Mutation_p.L302F	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	302					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TCACTAACTTCAAGCAGGCGT	0.453000													8	73					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138661057	138661057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:138661057C>T	ENST00000394800.2	+	17	2770	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*	MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Nonsense_Mutation_p.Q741*|MATR3_ENST00000394805.3_Intron|MATR3_ENST00000361059.2_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000510056.1_Intron|MATR3_ENST00000509990.1_Intron			P43243	MATR3_HUMAN	matrin 3	715						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCGGAACTTCAGAAACTTCG	0.403000													3	13					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104092910	104092910	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:104092910G>C	ENST00000388887.2	+	34	3823	c.3619G>C	c.(3619-3621)Gag>Cag	p.E1207Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1207	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGTCCTGGAGGAGAAACTCCT	0.502000													4	29					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149924337	149924337	+	Splice_Site	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:149924337G>C	ENST00000445323.2	+	15	1978	c.1857_splice	c.e15+1	p.Q619_splice	MTMR1_ENST00000541925.1_Splice_Site_p.Q517_splice|MTMR1_ENST00000544228.1_Splice_Site_p.Q611_splice|MTMR1_ENST00000370390.3_Splice_Site_p.Q611_splice|MTMR1_ENST00000538506.1_3'UTR			Q13613	MTMR1_HUMAN	myotubularin related protein 1	611						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGACCTCAGGTATCTTTTT	0.343000													13	63					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89416218	89416218	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:89416218G>T	ENST00000439576.2	+	16	7669	c.7295G>T	c.(7294-7296)tGc>tTc	p.C2432F	ACAN_ENST00000561243.1_Missense_Mutation_p.C2432F|ACAN_ENST00000559004.1_Missense_Mutation_p.C2394F|ACAN_ENST00000352105.7_Missense_Mutation_p.C2394F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2432					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATGTTCCCTGCAATTACCAC	0.567000													16	14					4.7546e-09	5.2433e-09	1	1	0
NPY1R	4886	broad.mit.edu	37	4	164247377	164247377	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:164247377C>T	ENST00000296533.2	-	2	861	c.330G>A	c.(328-330)gaG>gaA	p.E110E	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	110					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TACACATCGCCTCACCAAAGA	0.428000													23	43					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042251	242042251	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:242042251A>G	ENST00000366548.3	+	13	2308	c.1715A>G	c.(1714-1716)cAt>cGt	p.H572R	EXO1_ENST00000518483.1_Missense_Mutation_p.H572R|EXO1_ENST00000348581.5_Missense_Mutation_p.H572R	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	572					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CCAGGTGATCATATTCCAGAC	0.418000								Editing and processing nucleases					39	86					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286867	62286867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:62286867C>A	ENST00000378024.4	-	5	15296	c.15022G>T	c.(15022-15024)Gag>Tag	p.E5008*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5008					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGAGTCTCAAGGTTCAGC	0.423000													21	153					1.2644e-06	1.34678e-06	1	1	0
ZBTB32	27033	broad.mit.edu	37	19	36207480	36207480	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:36207480C>T	ENST00000392197.2	+	7	1608	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	ZBTB32_ENST00000262630.3_Silent_p.C430C			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	430					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	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)			CGTACCGCTGCTCCCTGTGCG	0.687000											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	164	100					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40627275	40627275	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:40627275C>G	ENST00000372771.4	+	1	231	c.204C>G	c.(202-204)gtC>gtG	p.V68V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	68					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGTCGGAGGTCTCATCTTTGA	0.667000													13	86					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36034291	36034291	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:36034291C>G	ENST00000222286.4	+	8	907	c.791C>G	c.(790-792)tCa>tGa	p.S264*	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	264					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GACGGGCCATCAAGGAAGGCC	0.582000													22	292					0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12296974	12296974	+	Missense_Mutation	SNP	G	G	A	rs147268850		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:12296974G>A	ENST00000343979.4	+	3	316	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	ZNF136_ENST00000398616.2_5'UTR	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	59	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TACAAACACCGAGGGAGAAAT	0.318000													7	12					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880420	37880420	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:37880420G>C	ENST00000436120.2	+	5	1576	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGACATCATAGAATTCACACT	0.398000													14	163					0	0	1	0	0
ETNK2	55224	broad.mit.edu	37	1	204110462	204110462	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:204110462G>A	ENST00000367199.2	-	3	968	c.558C>T	c.(556-558)atC>atT	p.I186I	ETNK2_ENST00000477125.1_5'UTR|ETNK2_ENST00000367202.4_Silent_p.I255I|ETNK2_ENST00000367201.3_Silent_p.I255I|ETNK2_ENST00000367198.2_Silent_p.I77I			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	255							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTCATAGATGATATTCTTGC	0.547000													19	58					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38921572	38921572	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:38921572C>G	ENST00000450244.1	-	19	3460	c.3262G>C	c.(3262-3264)Gaa>Caa	p.E1088Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1050Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E1088Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1088Q			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1088					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTTAGTAATTCTTGGATTTTG	0.358000													9	34					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378239	113378239	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:113378239C>G	ENST00000316407.4	-	7	2700	c.2290G>C	c.(2290-2292)Gat>Cat	p.D764H	KIAA2018_ENST00000478658.1_Missense_Mutation_p.D764H|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	764					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCTGAACTATCTGTTGTCACA	0.393000													16	36					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184675899	184675899	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:184675899G>A	ENST00000318130.8	-	18	2347	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L	EDEM3_ENST00000367512.3_Missense_Mutation_p.S651L|EDEM3_ENST00000466392.1_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	694	PA.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTAAGCTCTGAACAACCATT	0.408000													5	41					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24905054	24905054	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:24905054G>C	ENST00000313367.2	-	7	1031	c.580C>G	c.(580-582)Caa>Gaa	p.Q194E	OSBPL3_ENST00000409069.1_Missense_Mutation_p.Q194E|OSBPL3_ENST00000396429.1_Missense_Mutation_p.Q194E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.Q194E|OSBPL3_ENST00000431825.2_Missense_Mutation_p.Q194E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.Q194E|OSBPL3_ENST00000352860.1_Missense_Mutation_p.Q194E	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	194					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTTCCAGTTTGAAATAAATTC	0.408000													23	116					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145152018	145152018	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:145152018G>A	ENST00000318911.4	+	6	927	c.854G>A	c.(853-855)cGa>cAa	p.R285Q		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	285					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACGACCATCGAAAACGCATG	0.602000													6	10					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154156	50154156	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:50154156C>T	ENST00000360565.3	+	7	634	c.510C>T	c.(508-510)acC>acT	p.T170T		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	170					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTAGGCCCACCTGTGCCCGTC	0.657000													15	12					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32150438	32150438	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:32150438G>A	ENST00000375250.5	-	4	1074	c.833C>T	c.(832-834)tCa>tTa	p.S278L	ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S278L|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S278L|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.S278L|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S278L	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	278	WW 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GCAACGCCCTGAGCTGTCTTT	0.463000													8	64					0	0	1	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99219100	99219100	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:99219100G>T	ENST00000394152.2	+	5	819	c.492G>T	c.(490-492)ggG>ggT	p.G164G	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Silent_p.G164G|ZSCAN25_ENST00000334715.3_Silent_p.G164G	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		CTGAATGGGGGATGCCCCCTG	0.627000													14	54					2.32078e-09	2.5731e-09	1	1	0
LRIT2	340745	broad.mit.edu	37	10	85984612	85984612	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:85984612G>A	ENST00000372113.4	-	2	374	c.369C>T	c.(367-369)ttC>ttT	p.F123F	LRIT2_ENST00000538192.1_Silent_p.F123F	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	123						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGGTGGCACGGAACGCTGTCC	0.547000											OREG0005514	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LRIT2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	29	165					0	0	1	0	0
HIST1H3A	8350	broad.mit.edu	37	6	26020742	26020742	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:26020742C>T	ENST00000357647.3	+	1	25	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W		NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	9					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCAAACTGCTCGGAAGTCTAC	0.562000													58	39					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802744	140802744	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:140802744C>T	ENST00000398587.2	+	1	1983	c.1950C>T	c.(1948-1950)caC>caT	p.H650H	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGACCACGGCCAGCCCC	0.697000													17	109					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101596370	101596370	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:101596370A>G	ENST00000311812.2	-	12	1289	c.1139T>C	c.(1138-1140)aTg>aCg	p.M380T	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.M281T	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	380					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TAGCTTTACCATCTTTTCTGA	0.388000													20	33					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52844269	52844269	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:52844269C>G	ENST00000252252.3	-	2	723	c.676G>C	c.(676-678)Gac>Cac	p.D226H		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	226	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ACGATGTTGTCCAGCTGCCTC	0.577000													32	230					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78474696	78474696	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr13:78474696G>C	ENST00000377211.4	-	6	1467	c.1315C>G	c.(1315-1317)Ctt>Gtt	p.L439V	EDNRB_ENST00000446573.1_Missense_Mutation_p.L349V|EDNRB_ENST00000334286.5_Missense_Mutation_p.L349V	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	349					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.L349I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TGATTATAAAGAGTGAGCTTC	0.433000													11	53					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49214425	49214425	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:49214425C>T	ENST00000340334.7	-	5	756	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	FOLH1_ENST00000356696.3_Missense_Mutation_p.E145K|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000256999.2_Missense_Mutation_p.E145K|FOLH1_ENST00000533034.1_Missense_Mutation_p.E130K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	145					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGAGGTGGTTCAAATAATGAT	0.313000													16	113					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33905394	33905394	+	Silent	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:33905394C>A	ENST00000389232.4	+	19	2245	c.2175C>A	c.(2173-2175)ccC>ccA	p.P725P	RYR3_ENST00000415757.3_Silent_p.P725P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	725	B30.2/SPRY 1.				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)		GCCGGATACCCAGAGCTGTGG	0.597000													8	15					1.06961e-07	1.15969e-07	1	1	0
CAMP	820	broad.mit.edu	37	3	48266846	48266846	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:48266846G>A	ENST00000296435.2	+	4	610	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CAMP_ENST00000576243.1_Missense_Mutation_p.E149K	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	149					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GATTGGCAAAGAGTTTAAAAG	0.468000													8	146					0	0	1	0	0
AWAT2	158835	broad.mit.edu	37	X	69261763	69261763	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:69261763G>T	ENST00000276101.3	-	7	902	c.897C>A	c.(895-897)atC>atA	p.I299I		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	299						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						ATTTAGCCACGATCTCCTGGC	0.468000													30	25					2.65835e-16	3.07997e-16	1	1	0
CHST1	8534	broad.mit.edu	37	11	45672072	45672072	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:45672072G>C	ENST00000308064.2	-	4	1072	c.402C>G	c.(400-402)ttC>ttG	p.F134L		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	134					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGTTCTCCAGGAAGTAGAGGT	0.697000													11	174					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19554260	19554260	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:19554260C>G	ENST00000396212.2	+	9	2864	c.2428C>G	c.(2428-2430)Ctt>Gtt	p.L810V	CCP110_ENST00000381396.5_Missense_Mutation_p.L810V|CCP110_ENST00000396208.2_Missense_Mutation_p.L810V	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	810	Calmodulin-binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAAAGGATTTCTTACTCGTAG	0.343000													8	27					0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	159029729	159029729	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:159029729C>T	ENST00000367090.3	+	10	1265	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	418					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TGCCTAAATTCTTCATTGTTG	0.313000													5	55					0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39579164	39579164	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:39579164G>A	ENST00000225550.3	-	3	597	c.598C>T	c.(598-600)Cac>Tac	p.H200Y	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	200	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACCAGCTGGTGAAGGGAGCGC	0.637000													85	70					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686965	68686965	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:68686965C>G	ENST00000361320.4	+	2	869	c.291C>G	c.(289-291)atC>atG	p.I97M	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	97						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ATAACCATATCAGCAATATTG	0.368000													21	82					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626771	108626771	+	Silent	SNP	G	G	A	rs141187628		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:108626771G>A	ENST00000264047.2	+	9	1473	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	SLC5A7_ENST00000540517.1_Silent_p.T294T|SLC5A7_ENST00000409059.1_Silent_p.T399T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	399					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTTGCTGACGAAAACTGTGT	0.463000													13	63					0	0	1	0	0
OGFOD1	55239	broad.mit.edu	37	16	56500801	56500801	+	Silent	SNP	G	G	A	rs145169317		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:56500801G>A	ENST00000566157.1	+	6	702	c.579G>A	c.(577-579)ccG>ccA	p.P193P	OGFOD1_ENST00000568397.1_Silent_p.P193P	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	193	Fe2OG dioxygenase.						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	ACTTTCAGCCGAAGCAGATTG	0.403000													31	145					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49862728	49862728	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:49862728G>C	ENST00000377214.4	-	2	623	c.261C>G	c.(259-261)atC>atG	p.I87M	TEAD2_ENST00000539846.1_De_novo_Start_InFrame|TEAD2_ENST00000601519.1_Missense_Mutation_p.I87M|TEAD2_ENST00000598810.1_Missense_Mutation_p.I87M|TEAD2_ENST00000311227.2_Missense_Mutation_p.I87M|TEAD2_ENST00000593945.1_Missense_Mutation_p.I87M			Q15562	TEAD2_HUMAN	TEA domain family member 2	87					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TTCTCAGCTTGATGTAGCGGG	0.522000													34	225					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860941	67860941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:67860941C>T	ENST00000388833.3	+	13	1845	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*	TSNAXIP1_ENST00000415766.3_Nonsense_Mutation_p.Q475*|TSNAXIP1_ENST00000561639.1_Nonsense_Mutation_p.Q544*	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	490					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGCTGACAGTCAGAACGAGGG	0.507000													42	84					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115413803	115413803	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:115413803C>G	ENST00000369358.4	-	5	686	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	NRAP_ENST00000359988.3_Missense_Mutation_p.E148Q|NRAP_ENST00000360478.3_Missense_Mutation_p.E148Q|NRAP_ENST00000369360.3_Missense_Mutation_p.E148Q			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	148						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTTCGAGCCTCAACCATCCTT	0.448000													48	214					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52937399	52937399	+	Splice_Site	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:52937399C>T	ENST00000281741.4	-	15	1684		c.e15-1		TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GTAGATGTGCCTAAATAAAAG	0.303000													11	54					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24244746	24244746	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:24244746G>A	ENST00000338315.4	+	8	800	c.800G>A	c.(799-801)gGc>gAc	p.G267D	MFSD2B_ENST00000406420.3_Missense_Mutation_p.G267D			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	267					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TCAGGCCCAGGCTTGAGTTTC	0.597000													9	83					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161496322	161496322	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:161496322G>T	ENST00000309758.4	+	1	2287	c.1874G>T	c.(1873-1875)gGc>gTc	p.G625V		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	625					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCAGTTGTGGCACTCAAGCC	0.597000													9	36					0.000442599	0.000454967	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769536	31769536	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:31769536C>T	ENST00000240587.4	-	2	1490	c.1163G>A	c.(1162-1164)tGc>tAc	p.C388Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	388					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACACTCCATGCACTTCAGGAT	0.542000													38	311					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140792799	140792799	+	Silent	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:140792799G>T	ENST00000398610.2	+	1	57	c.57G>T	c.(55-57)ctG>ctT	p.L19L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGGTCCTGCTCTGCCTTT	0.512000											OREG0016862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	50					6.09941e-20	7.17987e-20	1	1	0
TF	7018	broad.mit.edu	37	3	133483100	133483100	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:133483100C>T	ENST00000402696.3	+	10	1763	c.1278C>T	c.(1276-1278)gtC>gtT	p.V426V	TF_ENST00000264998.3_Silent_p.V299V	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	426	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGGTGCCTGTCTTGGCAGAAA	0.493000													24	174					0	0	1	0	0
PDCD5	9141	broad.mit.edu	37	19	33075909	33075909	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:33075909G>A	ENST00000590247.1	+	3	352	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	PDCD5_ENST00000592786.1_Missense_Mutation_p.R53Q|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Missense_Mutation_p.R15Q	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	53					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					CAGTCGGCCCGGGCCAGGTGT	0.403000													16	201					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235345872	235345872	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:235345872C>G	ENST00000264183.3	-	20	2859	c.2362G>C	c.(2362-2364)Gta>Cta	p.V788L	ARID4B_ENST00000366603.2_Missense_Mutation_p.V788L|ARID4B_ENST00000349213.3_Missense_Mutation_p.V702L	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCGGATAATACTTCTATATCT	0.323000													9	38					0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58000752	58000752	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:58000752C>T	ENST00000548198.1	+	3	1610	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	DTX3_ENST00000548804.1_Missense_Mutation_p.R36W|DTX3_ENST00000551632.1_Missense_Mutation_p.R39W|DTX3_ENST00000337737.3_Missense_Mutation_p.R36W			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	36					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GACCCCAGCCCGGCTGGCCCG	0.597000													45	255					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62939627	62939627	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:62939627G>A	ENST00000561311.1	+	3	348	c.118G>A	c.(118-120)Gag>Aag	p.E40K	TLN2_ENST00000306829.6_Missense_Mutation_p.E40K			Q9Y4G6	TLN2_HUMAN	talin 2	40					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACGGGTGCCTGAGGCACAAAC	0.473000													19	113					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117424499	117424499	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:117424499G>T	ENST00000160373.3	-	5	2169	c.2078C>A	c.(2077-2079)cCc>cAc	p.P693H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	693										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGTTAGGGAGGGTGACCAGCC	0.507000													19	95					1.00905e-13	1.15866e-13	1	1	0
NUDCD1	84955	broad.mit.edu	37	8	110287697	110287697	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:110287697C>T	ENST00000239690.4	-	7	1431	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	NUDCD1_ENST00000427660.2_Missense_Mutation_p.E324K	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	353	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GTCAGTCCTTCATTCTTCTTA	0.358000													12	74					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356489	10356489	+	Silent	SNP	G	G	A	rs140849469		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:10356489G>A	ENST00000255381.2	-	24	3201	c.3091C>T	c.(3091-3093)Cta>Tta	p.L1031L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1031					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCTGTTCTAGCTTGGTTTTA	0.463000													120	121					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41463092	41463092	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:41463092C>G	ENST00000372621.4	+	9	1407	c.899C>G	c.(898-900)tCt>tGt	p.S300C	CTPS1_ENST00000372616.1_Missense_Mutation_p.S300C|CTPS1_ENST00000541520.1_Missense_Mutation_p.S69C	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	300	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	GAGACCTGCTCTATTGCCCTT	0.433000													26	72					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514718	50514718	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:50514718C>A	ENST00000419119.1	-	2	1821	c.268G>T	c.(268-270)Gca>Tca	p.A90S	FIGNL1_ENST00000395556.2_Missense_Mutation_p.A90S|FIGNL1_ENST00000356889.4_Missense_Mutation_p.A90S|FIGNL1_ENST00000433017.1_Missense_Mutation_p.A90S|FIGNL1_ENST00000435566.1_Intron			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	90					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGAGATCCTGCCAAAGTTAAA	0.333000													9	47					1.12685e-05	1.17953e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179535023	179535023	+	Splice_Site	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:179535023C>G	ENST00000589042.1	-	157	35533		c.e157-1		TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			ACCTCCGGTACTTTAAAGATA	0.333000													6	14					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386819	124386819	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr7:124386819G>C	ENST00000303921.2	-	2	2252	c.1602C>G	c.(1600-1602)agC>agG	p.S534R		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	534						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAGGAACTGGCTGATGATAT	0.458000													43	64					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51214802	51214802	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:51214802G>C	ENST00000245441.5	-	22	5162	c.4972C>G	c.(4972-4974)Ctg>Gtg	p.L1658V	NIN_ENST00000530997.2_Missense_Mutation_p.L1658V|NIN_ENST00000453196.1_Missense_Mutation_p.L1658V|NIN_ENST00000389868.3_Missense_Mutation_p.L945V|NIN_ENST00000382041.3_Missense_Mutation_p.L1658V|NIN_ENST00000382043.4_Missense_Mutation_p.L945V|NIN_ENST00000324330.9_Missense_Mutation_p.L1658V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1658					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCGCCTCCAGAGAAGACACT	0.398000			T	PDGFRB	MPD								8	82					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	861184	861184	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr4:861184G>A	ENST00000314167.4	-	21	2542	c.2432C>T	c.(2431-2433)tCt>tTt	p.S811F	GAK_ENST00000511163.1_Missense_Mutation_p.S732F|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	811					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTCCTTGGAAGAGGCATTTTC	0.587000													20	57					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987352	22987352	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:22987352G>C	ENST00000509305.1	+	3	575	c.229G>C	c.(229-231)Gac>Cac	p.D77H	C1QB_ENST00000314933.6_Missense_Mutation_p.D79H			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	79	Collagen-like 1.|Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGAGAAGGGAGACCCAGGGAT	0.607000													16	89					0	0	1	0	0
RNF5	6048	broad.mit.edu	37	6	32148055	32148055	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:32148055C>T	ENST00000375094.3	+	6	653	c.495C>T	c.(493-495)ctC>ctT	p.L165L	RNF5_ENST00000427134.2_Intron	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	165					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						AGGATTCCCTCTTCCTGTTTC	0.542000													35	285					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34254302	34254302	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:34254302G>A	ENST00000373381.4	-	12	1738	c.1562C>T	c.(1561-1563)aCa>aTa	p.T521I	CSMD2_ENST00000338325.1_Missense_Mutation_p.T129I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	481	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGACCGATGTACCTGTCAG	0.488000													24	57					0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111874685	111874685	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:111874685G>A	ENST00000371968.3	-	4	865	c.626C>T	c.(625-627)tCt>tTt	p.S209F	LHFPL1_ENST00000536453.1_Missense_Mutation_p.S176F|LHFPL1_ENST00000478229.1_5'UTR	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	209						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CATAGCATAAGAATTGGTATT	0.493000													23	63					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139217332	139217332	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:139217332G>C	ENST00000274710.3	+	12	1993	c.1788G>C	c.(1786-1788)aaG>aaC	p.K596N		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	596	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGCTTAAGACAGCCGACT	0.602000													16	60					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391181	49391181	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:49391181G>C	ENST00000421952.2	-	2	1499	c.1478C>G	c.(1477-1479)tCg>tGg	p.S493W		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	493	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GCCGGGCTTCGATTGGCTGGG	0.622000													9	43					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43411736	43411736	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:43411736G>A	ENST00000244533.3	+	9	2757	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	ABCC10_ENST00000372530.4_Missense_Mutation_p.E828K	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	828	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GAATGGACAAGAGTCTGACTC	0.547000													39	100					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203286	155203286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:155203286G>A	ENST00000460012.1	-	22	3100	c.2743C>T	c.(2743-2745)Caa>Taa	p.Q915*	PLCH1_ENST00000447496.2_Nonsense_Mutation_p.Q953*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.Q953*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.Q915*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.Q915*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.Q933*			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	953					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACGCCATCTTGATCTCTTGTG	0.532000													13	191					0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118183531	118183531	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:118183531G>C	ENST00000361763.4	+	6	593	c.302G>C	c.(301-303)aGa>aCa	p.R101T	CD3E_ENST00000528600.1_Missense_Mutation_p.R95T	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	101	Ig-like.				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	TGCTACCCCAGAGGAAGCAAA	0.463000													12	130					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32662316	32662316	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:32662316C>T	ENST00000357033.4	-	11	1470	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	DMD_ENST00000378677.2_Missense_Mutation_p.E418K|DMD_ENST00000288447.4_Missense_Mutation_p.E414K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	422					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCATCTGCTCTTGTACTTCA	0.383000													16	42					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184049544	184049544	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr3:184049544C>G	ENST00000342981.4	+	30	4841	c.4427C>G	c.(4426-4428)tCc>tGc	p.S1476C	EIF4G1_ENST00000319274.6_Missense_Mutation_p.S1475C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S1312C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S1435C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S1389C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S1311C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S1482C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S1279C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S1475C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S1482C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S1280C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S1388C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S1482C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S1436C|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1475	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGATAGTATCCAACACGTTA	0.517000													31	158					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110334597	110334597	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:110334597G>C	ENST00000239690.4	-	2	588	c.214C>G	c.(214-216)Caa>Gaa	p.Q72E	NUDCD1_ENST00000427660.2_Missense_Mutation_p.Q43E	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	72										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ACACTGTCTTGATACCATGAA	0.333000													7	31					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45721542	45721542	+	Silent	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:45721542C>T	ENST00000413988.1	-	7	616	c.576G>A	c.(574-576)ctG>ctA	p.L192L	EXOC3L2_ENST00000252482.3_Silent_p.L192L	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	192										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CCGGGCTGCTCAGCCACTTCC	0.647000													5	25					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995480	140995480	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chrX:140995480C>A	ENST00000285879.4	+	4	2576	c.2290C>A	c.(2290-2292)Cag>Aag	p.Q764K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	764							protein binding	p.Q764E(1)		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)					TGAGAGTCCTCAGAGTCCTCC	0.542000										HNSCC(15;0.026)			50	133					3.39706e-21	4.01718e-21	1	1	0
VPS53	55275	broad.mit.edu	37	17	456699	456699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:456699C>T	ENST00000437048.2	-	16	1854	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Missense_Mutation_p.E372K|VPS53_ENST00000571805.1_Missense_Mutation_p.E570K|VPS53_ENST00000401468.3_Missense_Mutation_p.E293K|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E541K	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	570					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGTTTTTCTTCTAGCTGTTGA	0.378000													6	32					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12981644	12981644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:12981644G>T	ENST00000251472.4	+	23	3049	c.3010G>T	c.(3010-3012)Gag>Tag	p.E1004*		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1004	PDZ.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGCATGTGGAGGAAGGAGG	0.557000													17	137					3.32936e-07	3.57958e-07	1	1	0
KITLG	4254	broad.mit.edu	37	12	88900107	88900107	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:88900107C>T	ENST00000347404.5	-	7	1251	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Missense_Mutation_p.E38K|KITLG_ENST00000228280.5_Missense_Mutation_p.E255K	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	255					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTATCCTCTTCATTAATTTGT	0.343000									Testicular Cancer, Familial Clustering of				28	48					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48777256	48777256	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr8:48777256C>A	ENST00000314191.2	-	42	5485	c.5429G>T	c.(5428-5430)cGc>cTc	p.R1810L	PRKDC_ENST00000338368.3_Missense_Mutation_p.R1810L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1811					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAAACTTAGGCGGGGGTCATC	0.468000								Non-homologous end-joining					4	23					0.00909568	0.0092301	1	1	0
TPP1	1200	broad.mit.edu	37	11	6636680	6636680	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:6636680G>A	ENST00000533371.1	-	9	1328	c.530C>T	c.(529-531)tCa>tTa	p.S177L	TPP1_ENST00000299427.6_Missense_Mutation_p.S420L			O14773	TPP1_HUMAN	tripeptidyl peptidase I	420					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		TACCTGGTATGAAGGCCGTGG	0.512000													13	46					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99876523	99876523	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:99876523G>A	ENST00000329331.3	-	9	947	c.879C>T	c.(877-879)gtC>gtT	p.V293V	SETD3_ENST00000331768.5_Intron	NM_199123.1	NP_954574.1	Q86TU7	SETD3_HUMAN	SET domain containing 3	0	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				aggcagaggcgacagcaagag	0.562000													8	121					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155609	22155609	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:22155609G>A	ENST00000397126.4	-	4	2375	c.2227C>T	c.(2227-2229)Cat>Tat	p.H743Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.H643N(2)|p.H743N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTACCTTA	0.368000													11	184					0	0	1	0	0
MC1R	4157	broad.mit.edu	37	16	89986597	89986597	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:89986597G>A	ENST00000555427.1	+	3	3234	c.931G>A	c.(931-933)Gag>Aag	p.E311K	MC1R_ENST00000555147.1_Missense_Mutation_p.E311K|RP11-566K11.4_ENST00000554623.1_RNA|TUBB3_ENST00000556922.1_Missense_Mutation_p.E311K					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GACGCTCAAGGAGGTGCTGAC	0.577000									Melanoma, Familial Clustering of				6	49					0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131904221	131904221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:131904221C>T	ENST00000403716.1	+	8	1104	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	PLEKHB2_ENST00000538982.1_Nonsense_Mutation_p.Q134*|PLEKHB2_ENST00000439822.2_Silent_p.D137D|PLEKHB2_ENST00000438882.2_Silent_p.D145D|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000409612.1_Nonsense_Mutation_p.Q182*|PLEKHB2_ENST00000409158.1_Nonsense_Mutation_p.Q190*|PLEKHB2_ENST00000409279.1_Nonsense_Mutation_p.Q182*|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000234115.6_Nonsense_Mutation_p.Q181*	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	182						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ACTTTATGGACAGCAGCCTGC	0.502000													72	142					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458248	16458248	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:16458248C>T	ENST00000358432.5	-	14	2597	c.2443G>A	c.(2443-2445)Gag>Aag	p.E815K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	815	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TAGGGCCGCTCGCCATAGGTC	0.612000													15	39					0	0	1	0	0
MIEF1	54471	broad.mit.edu	37	22	39910284	39910284	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr22:39910284C>G	ENST00000325301.2	+	6	1772	c.1348C>G	c.(1348-1350)Ctg>Gtg	p.L450V	SMCR7L_ENST00000402881.1_Intron|SMCR7L_ENST00000404569.1_Missense_Mutation_p.L450V	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		450						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					AGGATACACTCTGTATTGCTC	0.527000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	116					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33905393	33905393	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr15:33905393C>A	ENST00000389232.4	+	19	2244	c.2174C>A	c.(2173-2175)cCc>cAc	p.P725H	RYR3_ENST00000415757.3_Missense_Mutation_p.P725H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	725	B30.2/SPRY 1.				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)		GGCCGGATACCCAGAGCTGTG	0.592000													8	15					1.06961e-07	1.15969e-07	1	1	0
MMRN2	79812	broad.mit.edu	37	10	88696636	88696636	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:88696636C>A	ENST00000372027.4	-	7	2787	c.2714G>T	c.(2713-2715)gGa>gTa	p.G905V		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	905	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGCTGTGCTTCCACTCCCCTG	0.567000													45	192					5.34276e-22	6.33991e-22	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11144031	11144031	+	Silent	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:11144031C>G	ENST00000358026.2	+	26	3896	c.3612C>G	c.(3610-3612)ctC>ctG	p.L1204L	SMARCA4_ENST00000413806.3_Silent_p.L1204L|SMARCA4_ENST00000450717.3_Silent_p.L1204L|SMARCA4_ENST00000344626.4_Silent_p.L1204L|SMARCA4_ENST00000590574.1_Silent_p.L1204L|SMARCA4_ENST00000444061.3_Silent_p.L1204L|SMARCA4_ENST00000429416.3_Silent_p.L1204L|SMARCA4_ENST00000541122.2_Silent_p.L1204L|SMARCA4_ENST00000589677.1_Silent_p.L1204L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1204	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCTCCGCCTCTGCACCGTCA	0.617000			"""F, N, Mis"""		NSCLC								27	113					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110211103	110211103	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:110211103G>C	ENST00000369831.2	+	2	187	c.93G>C	c.(91-93)aaG>aaC	p.K31N	GSTM2_ENST00000241337.4_Missense_Mutation_p.K31N|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000460717.3_Missense_Mutation_p.K31N|GSTM2_ENST00000369829.2_Missense_Mutation_p.K31N|GSTM2_ENST00000369827.3_Missense_Mutation_p.K29N|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000442650.1_Missense_Mutation_p.K31N					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		ACGAGGAAAAGAAGTACACGA	0.597000													24	122					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370266	56370266	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:56370266C>G	ENST00000301295.6	+	3	1929	c.1507C>G	c.(1507-1509)Cta>Gta	p.L503V	NLRP4_ENST00000587891.1_Missense_Mutation_p.L428V|NLRP4_ENST00000346986.5_Missense_Mutation_p.L503V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	503							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGGGTGTTTTCTAACTGGCCT	0.408000													33	60					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119750718	119750718	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr2:119750718T>C	ENST00000541757.1	+	17	1417	c.1037T>C	c.(1036-1038)gTc>gCc	p.V346A	MARCO_ENST00000327097.4_Missense_Mutation_p.V424A			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	424	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCAGTGTCCGTCAGGATTGTC	0.512000													44	83					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13322945	13322945	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:13322945G>T	ENST00000360228.5	-	43	6274	c.6275C>A	c.(6274-6276)tCc>tAc	p.S2092Y	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S2093Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2093					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGGGGCATGGAGGCAGCCCG	0.667000													7	29					3.86212e-05	4.01411e-05	1	1	0
HEXIM1	10614	broad.mit.edu	37	17	43226969	43226969	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:43226969G>A	ENST00000332499.2	+	1	2286	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	138					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCAGGGGGCGAAGAGGAGTG	0.622000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	41					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161496321	161496321	+	Missense_Mutation	SNP	G	G	T	rs439078		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:161496321G>T	ENST00000309758.4	+	1	2286	c.1873G>T	c.(1873-1875)Ggc>Tgc	p.G625C		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	625					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGCAGTTGTGGCACTCAAGC	0.597000													9	36					0.000442599	0.000454967	1	1	0
ZNF302	55900	broad.mit.edu	37	19	35175846	35175846	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:35175846C>T	ENST00000505242.1	+	5	1398	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	ZNF302_ENST00000423823.2_Nonsense_Mutation_p.Q302*|ZNF302_ENST00000457781.2_Nonsense_Mutation_p.Q302*|ZNF302_ENST00000446502.2_Nonsense_Mutation_p.Q346*|ZNF302_ENST00000505365.2_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTTCTCATTCAGCATCTAAG	0.423000													8	113					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441436	37441436	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:37441436C>A	ENST00000415168.1	+	5	1565	c.1189C>A	c.(1189-1191)Ctc>Atc	p.L397I	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.L461I	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAAGAAAATCTCATTACACA	0.403000													18	196					0.000566183	0.000581424	1	1	0
TMEM145	284339	broad.mit.edu	37	19	42818458	42818458	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:42818458C>G	ENST00000598766.1	+	2	155	c.155C>G	c.(154-156)tCg>tGg	p.S52W	TMEM145_ENST00000301204.3_Missense_Mutation_p.S52W|TMEM145_ENST00000601020.1_3'UTR			Q8NBT3	TM145_HUMAN	transmembrane protein 145	52						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TGTTTCCTCTCGGATTACGGC	0.562000													82	56					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2945624	2945624	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:2945624C>T	ENST00000216877.6	+	5	591	c.191C>T	c.(190-192)aCa>aTa	p.T64I	PTPRA_ENST00000380393.3_Missense_Mutation_p.T64I|PTPRA_ENST00000399903.2_Missense_Mutation_p.T64I|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000425918.2_Missense_Mutation_p.T75I|PTPRA_ENST00000356147.3_Missense_Mutation_p.T64I|PTPRA_ENST00000318266.5_Missense_Mutation_p.T64I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	64					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTGGCACCAACATTCAGCCCA	0.398000													44	86					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053902	95053902	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:95053902C>T	ENST00000329597.7	+	3	413	c.203C>T	c.(202-204)tCc>tTc	p.S68F	SERPINA5_ENST00000554866.1_Missense_Mutation_p.S68F|SERPINA5_ENST00000554276.1_Missense_Mutation_p.S68F|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S68F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	68					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.S68F(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ATCTTCTTCTCCCCTGTGAGC	0.612000													18	40					0	0	1	0	0
RAN	5901	broad.mit.edu	37	12	131357651	131357651	+	Silent	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:131357651G>A	ENST00000543796.1	+	4	483	c.225G>A	c.(223-225)ctG>ctA	p.L75L	RAN_ENST00000254675.3_5'UTR|RAN_ENST00000392369.2_Silent_p.L75L|RAN_ENST00000541630.1_5'UTR|RAN_ENST00000392367.3_Silent_p.L75L			P62826	RAN_HUMAN	RAN, member RAS oncogene family	75					androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TCGGTGGACTGAGAGATGGCT	0.448000													15	60					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204095239	204095239	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:204095239G>C	ENST00000367204.1	+	14	1955	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	616					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGCGATGGGGAGTTGGTGGT	0.632000													15	46					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537492	24537492	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr5:24537492C>A	ENST00000264463.4	-	3	1030	c.523G>T	c.(523-525)Gta>Tta	p.V175L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	175	Cadherin 2.				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)		AACTTACCTACAACAGACATT	0.318000										HNSCC(23;0.051)			49	197					2.24059e-37	2.71188e-37	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22927502	22927502	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:22927502C>A	ENST00000166244.3	+	15	2722	c.2650C>A	c.(2650-2652)Cgc>Agc	p.R884S		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	884	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCAGCGGCCTCGCTTCTCCCA	0.677000													23	108					1.36565e-18	1.60024e-18	1	1	0
HNRNPA1	3178	broad.mit.edu	37	12	54676057	54676057	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:54676057G>T	ENST00000546500.1	+	4	1078	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.D155Y|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.D155Y|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.D155Y			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	155	Globular B domain.|RRM 2.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AACCTTTGACGACCATGACTC	0.403000													12	70					2.31682e-05	2.41531e-05	1	1	0
GPR158	57512	broad.mit.edu	37	10	25886704	25886704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr10:25886704G>T	ENST00000376351.3	+	11	2508	c.2149G>T	c.(2149-2151)Gag>Tag	p.E717*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	717						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						CTGGCAGGACGAGCTGAAAAA	0.408000													53	111					8.94452e-30	1.07126e-29	1	1	0
PER1	5187	broad.mit.edu	37	17	8048176	8048176	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:8048176A>T	ENST00000317276.4	-	18	2591	c.2354T>A	c.(2353-2355)cTg>cAg	p.L785Q	PER1_ENST00000354903.5_Missense_Mutation_p.L769Q|PER1_ENST00000581082.1_Missense_Mutation_p.L765Q|PER1_ENST00000578089.1_Intron	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	785	CSNK1E binding domain (By similarity).				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						CTGTGTGTGCAGGGACAGCAC	0.682000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					9	11					0	0	1	0	0
LDHA	3939	broad.mit.edu	37	11	18428790	18428790	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:18428790G>A	ENST00000422447.3	+	8	1234	c.961G>A	c.(961-963)Gat>Aat	p.D321N	LDHA_ENST00000540430.1_Missense_Mutation_p.D350N|LDHA_ENST00000542179.1_Missense_Mutation_p.D321N|LDHA_ENST00000396222.2_Missense_Mutation_p.R231K|LDHA_ENST00000379412.5_Missense_Mutation_p.D321N|LDHA_ENST00000227157.4_3'UTR|LDHA_ENST00000430553.2_Missense_Mutation_p.D263N	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	321					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	GAAGAGTGCAGATACACTTTG	0.443000													20	84					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28508559	28508559	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr16:28508559G>A	ENST00000564831.1	+	2	2230	c.2197G>A	c.(2197-2199)Gac>Aac	p.D733N	APOBR_ENST00000328423.5_Missense_Mutation_p.D724N|APOBR_ENST00000431282.1_Missense_Mutation_p.D724N	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	724	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGCGGAGGCTGACAGAACATC	0.632000													5	16					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146756081	146756099	+	Frame_Shift_Del	DEL	ACAGAAAATCATTTGAACA	ACAGAAAATCATTTGAACA	-	rs139966100		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr1:146756081_146756099delACAGAAAATCATTTGAACA	ENST00000369258.4	+	16	1783_1801	c.1763_1781delACAGAAAATCATTTGAACA	c.(1762-1782)gafs	p.DRKSFEQ588fs	CHD1L_ENST00000361293.5_Frame_Shift_Del_p.DRKSFEQ307fs|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Frame_Shift_Del_p.DRKSFEQ384fs|CHD1L_ENST00000431239.1_Frame_Shift_Del_p.DRKSFEQ494fs	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	588					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AGTAAGGAAGACAGAAAATCATTTGAACAACTGGTAAAC	0.338													14	99	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													4	3	---	---	---	---					
PHF3	23469	broad.mit.edu	37	6	64408111	64408111	+	Splice_Site	DEL	A	A	-			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:64408111delA	ENST00000262043.3	+	7	3020		c.e7-1		PHF3_ENST00000393387.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TATTCAAATTAGGTACTCATG	0.308													36	44	---	---	---	---					
EPHA7	2045	broad.mit.edu	37	6	93973605	93973605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr6:93973605delC	ENST00000369303.4	-	9	1955	c.1771delG	c.(1771-1773)aafs	p.E591fs		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	591						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCATCGCCTTCTTGGTCAGCT	0.328													37	60	---	---	---	---					
OR52E8	390079	broad.mit.edu	37	11	5878826	5878826	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr11:5878826delG	ENST00000537935.1	-	1	138	c.107delC	c.(106-108)ctfs	p.P36fs	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGAAAAAAGGGACTCCAAT	0.463													53	128	---	---	---	---					
OR6C4	341418	broad.mit.edu	37	12	55945121	55945121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr12:55945121delC	ENST00000394256.2	+	1	139	c.111delC	c.(109-111)atfs	p.I37fs	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	37			I -> V (in dbSNP:rs7313899).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGCTAAGTATCCTAGGAAATC	0.423													94	175	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138373	20138374	+	RNA	INS	-	-	AAG	rs150133272		TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr14:20138373_20138374insAAG	ENST00000548261.1	+	0	391																											GAAACAaaagaaagaaagaaag	0.396													3	3	---	---	---	---					
TBC1D3P3	653017	broad.mit.edu	37	17	20449855	20449855	+	RNA	DEL	A	A	-			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:20449855delA	ENST00000591705.1	+	0	1172																											AAAGGGGGCTAGGGTTTGGTT	0.448													24	8	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													8	140	---	---	---	---					
GDF1	2657	broad.mit.edu	37	19	18981067	18981069	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:18981067_18981069delAGG	ENST00000247005.6	-	7	1393_1395	c.48_50delCCT	c.(46-51)ctg>ct	p.LL16del	CERS1_ENST00000427170.2_3'UTR					growth differentiation factor 1																		CAGCAGGGCCAGGAGGAGGAGGA	0.749													2	4	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20369418	20369422	+	RNA	DEL	GTAAT	GTAAT	-			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:20369418_20369422delGTAAT	ENST00000593655.1	-	0	199																											GATGGTAGAGGTAATGTTTGAAACT	0.395													50	784	---	---	---	---					
SIX5	147912	broad.mit.edu	37	19	46268908	46268908	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:46268908delG	ENST00000317578.6	-	3	2452	c.2071delC	c.(2071-2073)acfs	p.H691fs	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	691				H -> HT (in Ref. 1).		cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.H691fs*4(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		AGCACGGTGTGGGGGGCCTGT	0.687													37	49	---	---	---	---					
LILRA3	11026	broad.mit.edu	37	19	54802075	54802076	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr19:54802075_54802076insA	ENST00000391745.1	-	10	1479_1480	c.1163_1164insT	c.(1162-1164)taafs	p.*388fs	LILRA3_ENST00000391744.3_Frame_Shift_Ins_p.*307fs|LILRA3_ENST00000251390.3_Frame_Shift_Ins_p.*371fs					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATTGGCGCTTTGATTTTAGACG	0.569													7	71	---	---	---	---					
SCP2D1	140856	broad.mit.edu	37	20	18794815	18794815	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-A4DF-01A-11D-A24D-08	TCGA-55-A4DF-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b0086c6-b9d2-4307-87c2-3ad6d462d9b5	b6d8e54f-06ff-47fe-b6a7-371417e180a0	g.chr20:18794815delT	ENST00000377428.2	+	1	446	c.356delT	c.(355-357)gtfs	p.V119fs	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		ATGGAGCTGGTTTTGGGCAAA	0.498													30	84	---	---	---	---