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
LIN54	132660	broad.mit.edu	37	4	83860797	83860797	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:83860797C>G	ENST00000340417.3	-	7	1712	c.1335G>C	c.(1333-1335)caG>caC	p.Q445H	LIN54_ENST00000395283.2_Missense_Mutation_p.Q356H|LIN54_ENST00000446851.2_Missense_Mutation_p.Q224H|LIN54_ENST00000505397.1_Missense_Mutation_p.Q445H|LIN54_ENST00000442461.2_Missense_Mutation_p.Q224H|LIN54_ENST00000506560.1_Missense_Mutation_p.Q356H|LIN54_ENST00000510557.1_Missense_Mutation_p.Q224H|LIN54_ENST00000395282.2_3'UTR	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	445					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TGGGCTGGATCTGTGGCAGTG	0.507000													4	62					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24440778	24440778	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:24440778C>T	ENST00000355123.4	-	31	4247	c.3804G>A	c.(3802-3804)ctG>ctA	p.L1268L	ITSN2_ENST00000361999.3_Silent_p.L1241L|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1268	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTCACTTCAGCAGCTTTG	0.507000													4	59					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189675728	189675728	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:189675728C>T	ENST00000319332.5	-	15	2297	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	LEPREL1_ENST00000427335.2_Silent_p.L519L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	700					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTTGATATTCAGTTCATGCT	0.308000											OREG0015985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	92					0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033433	26033433	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:26033433C>T	ENST00000259791.2	-	1	363	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	122					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGATGGCTCTCAGTTTTCTTA	0.488000													5	85					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153273765	153273765	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:153273765C>T	ENST00000263981.5	-	1	358	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000296555.5_Intron|FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603548.1_Intron	NM_018315.4	NP_060785.2	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	0					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCACAGATTCTAATGTGGAC	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								8	25					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40146341	40146341	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:40146341G>C	ENST00000261435.6	+	16	5480	c.5064G>C	c.(5062-5064)caG>caC	p.Q1688H		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1688						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.Q1688H(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGCTGCCACAGAATGTTTTAG	0.423000													6	68					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75524564	75524564	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr9:75524564C>G	ENST00000297785.3	-	11	1366	c.1312G>C	c.(1312-1314)Gat>Cat	p.D438H		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	438					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATGGCTTTATCAATGTCTTTG	0.383000													5	169					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711934	140711934	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:140711934G>A	ENST00000517417.1	+	1	1683	c.1683G>A	c.(1681-1683)gaG>gaA	p.E561E	PCDHGA1_ENST00000378105.3_Silent_p.E561E	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCCGAGATCCTGTACC	0.652000													7	165					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108635059	108635059	+	Silent	SNP	C	C	T	rs138320383		TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:108635059C>T	ENST00000261047.3	-	3	489	c.357G>A	c.(355-357)gcG>gcA	p.A119A	GUCA1C_ENST00000393963.3_Silent_p.A119A|GUCA1C_ENST00000471108.1_Silent_p.A119A	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	119	EF-hand 3.		A -> V (in dbSNP:rs11917716).		signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.A119A(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GGGCTTGTACCGCCTGCAAAA	0.408000													10	65					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39978986	39978986	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr20:39978986C>G	ENST00000373257.3	+	7	1142	c.1051C>G	c.(1051-1053)Ctg>Gtg	p.L351V		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	351					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTGGGCCACTCTGGAGGTTCC	0.647000													6	26					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44266119	44266119	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:44266119G>A	ENST00000395749.2	-	20	1669	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000395747.2_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	531					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ACTTACATGGGGTGGGCAGGG	0.706000													5	2					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39883720	39883720	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:39883720C>T	ENST00000260356.5	+	16	2593	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	810					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.R810W(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCTCAATGAACGGGACAACTG	0.488000													4	51					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005518	30005518	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:30005518C>T	ENST00000279392.3	-	4	1778	c.948G>A	c.(946-948)aaG>aaA	p.K316K	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	316					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TGTCCTCACTCTTCCTCTGCA	0.572000													4	99					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19162885	19162885	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:19162885C>T	ENST00000535612.1	+	5	1166	c.734C>T	c.(733-735)gCc>gTc	p.A245V	ARMC6_ENST00000392335.2_Missense_Mutation_p.A220V|ARMC6_ENST00000546344.1_Missense_Mutation_p.A152V|ARMC6_ENST00000392336.3_Missense_Mutation_p.A245V|ARMC6_ENST00000269932.6_Missense_Mutation_p.A220V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	245							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GCCTGCTGGGCCCTGCGTGTC	0.577000													5	44					0	0	1	0	0
ERLEC1	27248	broad.mit.edu	37	2	54028961	54028961	+	Silent	SNP	T	T	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:54028961T>C	ENST00000185150.4	+	8	992	c.861T>C	c.(859-861)ccT>ccC	p.P287P	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000378239.5_Silent_p.P287P|ERLEC1_ENST00000405123.3_Silent_p.P287P	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	287					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TAAGGGTGCCTTTTAGGAGAA	0.383000													3	68					0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53236924	53236924	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:53236924G>A	ENST00000294353.6	+	3	574	c.429G>A	c.(427-429)ctG>ctA	p.L143L	ZYG11B_ENST00000443756.2_Silent_p.L143L|ZYG11B_ENST00000545132.1_Silent_p.L143L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	143							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GCCTGGTGCTGAATTCATTAA	0.473000													5	72					0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43146098	43146098	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:43146098C>G	ENST00000265354.4	+	5	1587	c.1229C>G	c.(1228-1230)cCt>cGt	p.P410R	SRF_ENST00000457278.2_Missense_Mutation_p.P206R	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	410					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ATGATGTACCCTAGCCCGCAT	0.617000													5	39					0	0	1	0	0
TMEM204	79652	broad.mit.edu	37	16	1584324	1584324	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:1584324C>G	ENST00000566264.1	+	1	751	c.48C>G	c.(46-48)gtC>gtG	p.V16V	IFT140_ENST00000426508.2_Intron|TMEM204_ENST00000253934.5_Silent_p.V16V	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	16					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				TGGCCCTGGTCTCACTCATCC	0.677000													4	69					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76395538	76395538	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:76395538C>G	ENST00000262764.6	+	5	647	c.621C>G	c.(619-621)ctC>ctG	p.L207L	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Silent_p.L72L	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	207					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TTCGGCTCCTCATCCCTGAGC	0.607000													3	69					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210762	205210762	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:205210762G>A	ENST00000358024.3	+	2	726	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	TMCC2_ENST00000545499.1_Missense_Mutation_p.G35S|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	113						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCAGCAGCAGGGTATGTCCGA	0.637000													6	8					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31532287	31532287	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:31532287C>A	ENST00000373747.3	-	2	226	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	PUM1_ENST00000424085.2_Missense_Mutation_p.G43W|PUM1_ENST00000373742.2_Missense_Mutation_p.G79W|PUM1_ENST00000426105.2_Missense_Mutation_p.G43W|PUM1_ENST00000257075.5_Missense_Mutation_p.G43W|PUM1_ENST00000440538.2_Missense_Mutation_p.G43W|PUM1_ENST00000423018.2_Missense_Mutation_p.G43W|PUM1_ENST00000373741.4_Missense_Mutation_p.G79W	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	43					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCTTGCGACCCTGTTCCAGAT	0.542000													15	66					1.62849e-17	1.77875e-17	1	1	0
ZNF285	26974	broad.mit.edu	37	19	44890909	44890909	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:44890909G>C	ENST00000330997.4	-	4	1562	c.1498C>G	c.(1498-1500)Cac>Gac	p.H500D	ZNF285_ENST00000544719.2_Missense_Mutation_p.H500D|ZNF285_ENST00000591679.1_Missense_Mutation_p.H507D|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGATGTAAGTGAAAATATGAA	0.383000													4	88					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95539244	95539244	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:95539244G>C	ENST00000317968.4	+	8	1146	c.1010G>C	c.(1009-1011)aGa>aCa	p.R337T	PDLIM5_ENST00000542407.1_Missense_Mutation_p.R215T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.R228T|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000514743.1_Missense_Mutation_p.R366T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	337					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ACCTCTGGCAGACCAGGGGTT	0.582000													10	38					0	0	1	0	0
TAF9	6880	broad.mit.edu	37	5	68661562	68661562	+	Translation_Start_Site	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:68661562C>T	ENST00000328663.4	-	3	469	c.3G>A	c.(1-3)atG>atA	p.M1I	TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Start_Codon_SNP_p.M1I|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000217893.5_Start_Codon_SNP_p.M1I|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000502819.1_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TGCCAGACTCCATGATATCCG	0.388000													4	39					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29676238	29676238	+	Silent	SNP	A	A	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:29676238A>G	ENST00000358273.4	+	49	7673	c.7290A>G	c.(7288-7290)gaA>gaG	p.E2430E	NF1_ENST00000417592.2_Silent_p.E143E|NF1_ENST00000356175.3_Silent_p.E2409E|NF1_ENST00000444181.2_Silent_p.E223E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2430					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAATTTGAAGTGAATACAC	0.348000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	35					0	0	1	0	0
HSPB1	3315	broad.mit.edu	37	7	75933142	75933142	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:75933142G>A	ENST00000248553.6	+	2	557	c.388G>A	c.(388-390)Gag>Aag	p.E130K	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	130	Interaction with TGFB1I1 (By similarity).				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding			large_intestine(1)|lung(3)	4						GCGGCAGGACGAGCATGGCTA	0.672000													6	55					0	0	1	0	0
ALKBH8	91801	broad.mit.edu	37	11	107427527	107427527	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:107427527T>C	ENST00000428149.2	-	3	483	c.332A>G	c.(331-333)cAa>cGa	p.Q111R	ALKBH8_ENST00000417449.2_Missense_Mutation_p.Q114R|ALKBH8_ENST00000429370.1_Missense_Mutation_p.Q111R|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Missense_Mutation_p.Q111R	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	111	RRM.				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide 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|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AGTGATCTTTTGTCCTAAATC	0.328000													12	44					0	0	1	0	0
ST7L	54879	broad.mit.edu	37	1	113126720	113126720	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:113126720C>T	ENST00000358039.4	-	7	1034	c.730G>A	c.(730-732)Gag>Aag	p.E244K	ST7L_ENST00000369669.1_Missense_Mutation_p.E61K|ST7L_ENST00000369666.1_Missense_Mutation_p.E227K|ST7L_ENST00000490067.1_Missense_Mutation_p.E227K|ST7L_ENST00000538187.1_Missense_Mutation_p.E188K|ST7L_ENST00000360743.4_Missense_Mutation_p.E244K|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369668.2_Missense_Mutation_p.E244K|ST7L_ENST00000544629.1_Missense_Mutation_p.E179K|ST7L_ENST00000543570.1_Missense_Mutation_p.E227K|ST7L_ENST00000343210.7_Missense_Mutation_p.E244K	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	244					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		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)		GCTTCTTCCTCAGCCAGTAGA	0.403000													13	36					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55544750	55544750	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:55544750C>T	ENST00000436346.1	-	20	4393	c.3552G>A	c.(3550-3552)ctG>ctA	p.L1184L	CCDC88A_ENST00000263630.8_Silent_p.L1184L|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.L1183L|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.L1183L|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1184					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GGGCAGACTTCAGAGTTCCAT	0.353000													5	116					0	0	1	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13474983	13474983	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:13474983G>C	ENST00000376126.2	-	3	1145	c.1146C>G	c.(1144-1146)ttC>ttG	p.F382L		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	382										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGAAAGCAGAAAGTGGTGA	0.567000													9	113					0	0	1	0	0
GSPT1	2935	broad.mit.edu	37	16	11966987	11966987	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:11966987C>G	ENST00000434724.2	-	15	2102	c.1903G>C	c.(1903-1905)Gag>Cag	p.E635Q	GSPT1_ENST00000563468.1_Missense_Mutation_p.E497Q|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000420576.2_Missense_Mutation_p.E497Q|GSPT1_ENST00000439887.2_Missense_Mutation_p.E634Q	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	497					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TAGTCTTTCTCTGGAACCAGT	0.358000													5	78					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614909	135614909	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr8:135614909C>T	ENST00000520727.1	-	7	1316	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	ZFAT_ENST00000429442.2_Silent_p.K339K|ZFAT_ENST00000520214.1_Silent_p.K339K|ZFAT_ENST00000377838.3_Silent_p.K351K|ZFAT_ENST00000520356.1_Silent_p.K339K|ZFAT_ENST00000523399.1_Silent_p.K289K	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCTGCTTGATCTTCTTGTGCA	0.547000													9	57					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39268287	39268287	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:39268287G>C	ENST00000331366.5	-	2	221	c.125C>G	c.(124-126)tCt>tGt	p.S42C	CPNE8_ENST00000360449.3_Missense_Mutation_p.S30C	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	42	C2 1.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ATCAGATTTAGAAAATGTGTC	0.264000													5	77					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65462633	65462633	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:65462633A>G	ENST00000286574.4	-	4	823	c.449T>C	c.(448-450)tTt>tCt	p.F150S		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	150	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		ATCCACTTCAAATGCTGCCAC	0.373000			T	HMGA2	pleomorphic salivary gland adenoma								14	82					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110866336	110866336	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:110866336G>C	ENST00000265171.5	+	5	1290	c.845G>C	c.(844-846)aGa>aCa	p.R282T	EGF_ENST00000503392.1_Missense_Mutation_p.R282T|EGF_ENST00000509793.1_Missense_Mutation_p.R282T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	282					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GACATGGTTAGAATTAACCTC	0.423000													3	51					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57493435	57493435	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:57493435C>G	ENST00000351747.2	-	8	1012	c.832G>C	c.(832-834)Gaa>Caa	p.E278Q	DNAH12_ENST00000311202.6_Missense_Mutation_p.E278Q|DNAH12_ENST00000389536.4_Missense_Mutation_p.E278Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	278	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTAACACCTTCTAGTGCCTCC	0.313000													3	71					0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38307471	38307471	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:38307471C>G	ENST00000311856.4	+	1	169	c.120C>G	c.(118-120)gtC>gtG	p.V40V	SLC22A13_ENST00000450935.2_5'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	40						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TTGCCCATGTCTTCATGGTCC	0.512000													4	91					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547474	165547474	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:165547474C>G	ENST00000264381.3	-	2	1514	c.1348G>C	c.(1348-1350)Gaa>Caa	p.E450Q	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	450					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GATCGGTGTTCAAAATAGTAG	0.413000													4	124					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962443	165962443	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:165962443C>T	ENST00000512596.1	+	3	1435	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	TRIM60_ENST00000508504.1_Silent_p.L407L|TRIM60_ENST00000341062.5_Silent_p.L407L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	407	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AACCCAGCTTCTGCCAGTAGT	0.418000													7	121					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42530413	42530413	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr18:42530413G>C	ENST00000282030.5	+	4	1404	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	370						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGGGAAAAGGGAAGGTTATTC	0.463000									Schinzel-Giedion syndrome				4	47					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38897197	38897197	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr22:38897197C>T	ENST00000396821.3	-	2	475	c.376G>A	c.(376-378)Gag>Aag	p.E126K	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.E47K	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	47	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTGGGGAGCTCACTCAAATCC	0.423000													4	63					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37903585	37903585	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:37903585C>G	ENST00000316950.6	-	6	2532	c.1975G>C	c.(1975-1977)Gag>Cag	p.E659Q	ZNF569_ENST00000392150.2_Missense_Mutation_p.E500Q|ZNF569_ENST00000392149.2_Missense_Mutation_p.E659Q	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGGGCTTCTCACCTGTATGT	0.418000													4	92					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727607	137727607	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:137727607C>T	ENST00000314358.5	+	8	2486	c.2286C>T	c.(2284-2286)ctC>ctT	p.L762L	KDM3B_ENST00000394866.1_Silent_p.L418L|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	762					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATCCCCTCCTCAAAACCTTTA	0.547000													5	234					0	0	1	0	0
CHCHD3	54927	broad.mit.edu	37	7	132481277	132481277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:132481277C>A	ENST00000262570.5	-	7	730	c.586G>T	c.(586-588)Gag>Tag	p.E196*	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Nonsense_Mutation_p.E201*	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	196	CHCH.				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						TGGGTGTTCTCACGGTAACAC	0.527000													4	57					1	1	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50051992	50051992	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:50051992G>A	ENST00000376042.1	+	6	1121	c.823G>A	c.(823-825)Gag>Aag	p.E275K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E275K|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	275					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GCCTAAAACTGAGGAGTCAAT	0.423000													18	30					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425291	74425291	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:74425291C>G	ENST00000429990.1	+	7	741	c.645C>G	c.(643-645)gtC>gtG	p.V215V						nuclear pore complex interacting protein family, member B15																		CCCTACAGGTCAGAATGGCGG	0.512000													9	184					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101124711	101124711	+	Splice_Site	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:101124711G>C	ENST00000356713.4	+	6	2417		c.e6-1		CNNM1_ENST00000370534.4_Splice_Site|CNNM1_ENST00000446890.1_Splice_Site|CNNM1_ENST00000370528.3_Splice_Site	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1						ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TCTGTCCTTAGATAATGACGT	0.493000													3	28					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720431	21720431	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:21720431C>G	ENST00000358491.4	+	4	1784	c.1576C>G	c.(1576-1578)Caa>Gaa	p.Q526E	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGACTTACTCAACATAAGAA	0.358000													3	61					0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122720937	122720937	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:122720937G>C	ENST00000452194.1	+	1	242	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	HSF2_ENST00000368455.4_Missense_Mutation_p.E19Q	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	19					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		GACGCTTGTGGAGGAAACCCA	0.582000													5	50					0	0	1	0	0
GLYR1	84656	broad.mit.edu	37	16	4872881	4872881	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:4872881C>T	ENST00000321919.9	-	7	752	c.676G>A	c.(676-678)Gag>Aag	p.E226K	GLYR1_ENST00000591451.1_Missense_Mutation_p.E226K|GLYR1_ENST00000381983.3_Missense_Mutation_p.E226K|GLYR1_ENST00000436648.5_Missense_Mutation_p.E145K	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	226					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CTCACCTTCTCTGTTTGGCTT	0.498000													7	95					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95839594	95839594	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr8:95839594C>T	ENST00000523731.1	+	3	542	c.409C>T	c.(409-411)Ccg>Tcg	p.P137S	INTS8_ENST00000447247.1_Missense_Mutation_p.P137S	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	137					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CACTTTACCTCCGACCACTGC	0.428000													10	153					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27450957	27450957	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:27450957C>T	ENST00000295736.5	-	13	1874	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	SLC4A7_ENST00000388777.4_Missense_Mutation_p.D152N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.D598N|SLC4A7_ENST00000428386.1_Missense_Mutation_p.D478N|SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000455077.1_Missense_Mutation_p.D483N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.D594N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.D611N|SLC4A7_ENST00000437179.1_Missense_Mutation_p.D483N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.D598N|SLC4A7_ENST00000435667.2_Missense_Mutation_p.D487N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	602						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTTAATGCATCCTTGAAGTCA	0.433000													10	116					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104114773	104114773	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:104114773C>G	ENST00000361355.4	+	4	826	c.210C>G	c.(208-210)ttC>ttG	p.F70L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	70					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACAACCCTTTCAGACCTTGGT	0.343000													7	278					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67152005	67152005	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:67152005C>G	ENST00000269081.4	-	30	4426	c.3517G>C	c.(3517-3519)Gat>Cat	p.D1173H	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1173					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GCTTGAACATCTTCATCTTCT	0.418000													5	149					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107718687	107718687	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr8:107718687C>G	ENST00000445937.1	+	9	1199	c.938C>G	c.(937-939)tCa>tGa	p.S313*	OXR1_ENST00000497705.1_Nonsense_Mutation_p.S246*|OXR1_ENST00000442977.2_Nonsense_Mutation_p.S314*|OXR1_ENST00000517566.2_Nonsense_Mutation_p.S313*|OXR1_ENST00000312046.6_Nonsense_Mutation_p.S306*|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Nonsense_Mutation_p.S313*	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	314					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)			GAAATAGACTCAAGAATCCGA	0.408000													3	63					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47282330	47282330	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:47282330C>T	ENST00000335044.2	-	17	2242	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	KIF9_ENST00000444589.2_Missense_Mutation_p.E564K|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000265529.3_Missense_Mutation_p.E629K|KIF9_ENST00000352910.4_Missense_Mutation_p.E471K|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.E629K	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	629					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)		TTCAGGGCCTCCTTGGTCACA	0.488000													7	79					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207615669	207615669	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:207615669C>G	ENST00000374412.3	-	6	1316	c.1041G>C	c.(1039-1041)ttG>ttC	p.L347F	MDH1B_ENST00000449792.1_Missense_Mutation_p.L249F|MDH1B_ENST00000454776.2_Missense_Mutation_p.L347F|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	347					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TGTCAAAAATCAAGTTTAAAA	0.323000													3	47					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56309879	56309879	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:56309879G>A	ENST00000262494.7	+	3	458	c.198G>A	c.(196-198)gtG>gtA	p.V66V	GNAO1_ENST00000262493.6_Silent_p.V66V	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	66					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)				GAGAAGACGTGAAACAGTACA	0.498000													31	27					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34072267	34072267	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr21:34072267C>G	ENST00000382499.2	-	4	476	c.477G>C	c.(475-477)cgG>cgC	p.R159R	SYNJ1_ENST00000322229.7_Silent_p.R120R|SYNJ1_ENST00000382491.3_Silent_p.R120R|SYNJ1_ENST00000357345.3_Silent_p.R120R|SYNJ1_ENST00000433931.2_Silent_p.R159R	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	120	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCAAAACTTTCCGCACTTCTG	0.383000													3	43					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28280971	28280971	+	Silent	SNP	G	G	A	rs113642472	byFrequency	TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:28280971G>A	ENST00000373894.3	+	5	815	c.624G>A	c.(622-624)gcG>gcA	p.A208A	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.A160A|SMPDL3B_ENST00000373888.4_Silent_p.A208A	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	208					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CAGACATGGCGGACCCTGGCC	0.562000													41	97					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698494	43698494	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:43698494G>C	ENST00000405312.3	-	5	1478	c.1241C>G	c.(1240-1242)tCt>tGt	p.S414C	PSG4_ENST00000433626.2_Missense_Mutation_p.S321C|PSG4_ENST00000244295.9_Missense_Mutation_p.S321C	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	414					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCACTTACCAGAGACTTTGAC	0.463000													28	189					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32023874	32023874	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:32023874C>G	ENST00000375244.3	-	24	8422	c.8221G>C	c.(8221-8223)Gag>Cag	p.E2741Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2741Q			P22105	TENX_HUMAN	tenascin XB	2799	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGTCAGCTCCCCCAGGAGC	0.627000													7	45					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76495887	76495887	+	Silent	SNP	C	C	G	rs142575528		TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:76495887C>G	ENST00000307431.8	+	10	1750	c.1365C>G	c.(1363-1365)gtC>gtG	p.V455V	CNTNAP4_ENST00000377504.4_Silent_p.V407V|CNTNAP4_ENST00000478060.1_Silent_p.V383V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.V459V	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	456	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						GGCATTCTGTCTCTTTATCTG	0.473000													5	100					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68954627	68954627	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:68954627C>G	ENST00000456315.2	-	4	676	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	DEPDC1_ENST00000370966.5_Missense_Mutation_p.E188Q	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	188					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CTCCAAACTTCTTCAACATCT	0.284000													5	119					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229781	7229781	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:7229781G>A	ENST00000379938.2	+	10	1986	c.1449G>A	c.(1447-1449)caG>caA	p.Q483Q	RREB1_ENST00000349384.6_Silent_p.Q483Q|RREB1_ENST00000379933.3_Silent_p.Q483Q|RREB1_ENST00000334984.6_Silent_p.Q483Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	483	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTCCCCCTCAGATCAGTCTTC	0.612000													7	263					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29676236	29676236	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:29676236G>C	ENST00000358273.4	+	49	7671	c.7288G>C	c.(7288-7290)Gaa>Caa	p.E2430Q	NF1_ENST00000417592.2_Missense_Mutation_p.E143Q|NF1_ENST00000356175.3_Missense_Mutation_p.E2409Q|NF1_ENST00000444181.2_Missense_Mutation_p.E223Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2430					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.E2430*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGACAAATTTGAAGTGAATAC	0.353000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	34					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227373	43227373	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:43227373G>C	ENST00000332499.2	+	1	2690	c.816G>C	c.(814-816)gaG>gaC	p.E272D		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	272					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						AGACGTACGAGCGGTACCACA	0.597000													9	41					0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11982750	11982750	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:11982750G>C	ENST00000376572.3	-	2	2015	c.1830C>G	c.(1828-1830)ttC>ttG	p.F610L	KIAA2013_ENST00000376576.3_Missense_Mutation_p.F610L	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	610						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGAGCTTGAAGAGGAAGA	0.597000													3	14					0	0	1	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326569	52326569	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:52326569G>A	ENST00000436784.2	+	5	1059	c.999G>A	c.(997-999)ctG>ctA	p.L333L	GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000461183.1_Silent_p.L249L|GLYCTK_ENST00000471180.1_Silent_p.L206L|GLYCTK_ENST00000305690.8_Silent_p.L333L|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000354773.4_3'UTR|GLYCTK-AS1_ENST00000493616.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	333					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CTGTGGTGCTGAGTGCAGCCA	0.602000													5	59					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42585013	42585013	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:42585013C>T	ENST00000600245.1	+	2	2910	c.2255C>T	c.(2254-2256)tCa>tTa	p.S752L	ZNF574_ENST00000359044.4_Missense_Mutation_p.S752L|ZNF574_ENST00000222339.7_Missense_Mutation_p.S842L			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				ACAGAGACGTCACTGCAGGTG	0.632000													5	185					0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120677770	120677770	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:120677770G>C	ENST00000263708.2	+	12	1725	c.954G>C	c.(952-954)aaG>aaC	p.K318N		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	318						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)	CACCTCAAAAGAATTTTTTTG	0.338000													3	98					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184853821	184853821	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:184853821C>T	ENST00000367511.3	-	5	740	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	183					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTCTTCTGGTCAGCAGCCTCG	0.597000													3	25					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53647137	53647137	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:53647137G>A	ENST00000534842.1	+	2	986	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	MFSD5_ENST00000329548.4_Missense_Mutation_p.R173Q	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	173					transport	integral to membrane		p.R173Q(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						ACCTTTGCTCGAGCTGCCTTC	0.597000													14	277					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807546	18807546	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:18807546C>G	ENST00000400664.1	+	1	123	c.71C>G	c.(70-72)tCa>tGa	p.S24*		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	24						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTGCTGTCAGCCGCTGCC	0.632000													3	38					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204001	9204001	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:9204001C>G	ENST00000429566.3	+	1	147	c.81C>G	c.(79-81)ctC>ctG	p.L27L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGACGCTTCTCTTTTCCCTGT	0.522000													4	47					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98445701	98445701	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:98445701G>C	ENST00000450876.1	-	8	2313	c.998C>G	c.(997-999)tCt>tGt	p.S333C	TMEM130_ENST00000345589.4_Missense_Mutation_p.S315C|TMEM130_ENST00000546258.1_Missense_Mutation_p.S398C|TMEM130_ENST00000416379.2_Missense_Mutation_p.S429C|TMEM130_ENST00000339375.4_Missense_Mutation_p.S417C			Q8N3G9	TM130_HUMAN	transmembrane protein 130	429						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGTTTTGACAGACTTATAGAG	0.552000													6	27					0	0	1	0	0
IFT27	11020	broad.mit.edu	37	22	37163887	37163887	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr22:37163887C>G	ENST00000340630.5	-	2	496	c.51G>C	c.(49-51)aaG>aaC	p.K17N	IFT27_ENST00000453009.2_5'UTR|IFT27_ENST00000433985.2_Missense_Mutation_p.K18N	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	18					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAGGGCGGTCTTGCCCACTG	0.512000													7	192					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32712726	32712726	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:32712726C>T	ENST00000421745.2	+	41	7960	c.7826C>T	c.(7825-7827)cCc>cTc	p.P2609L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2609					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCACAGTCTCCCACTGGAACA	0.328000													6	67					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151164988	151164988	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:151164988C>T	ENST00000282466.3	-	4	2780	c.2781G>A	c.(2779-2781)atG>atA	p.M927I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	927					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATCTTTGATCATAGTCCTTA	0.398000													8	215					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68846080	68846080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:68846080C>T	ENST00000261769.5	+	8	1242	c.1051C>T	c.(1051-1053)Caa>Taa	p.Q351*	CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q351*|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	351	Cadherin 2.				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.S337_T379del(1)|p.?(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)		TGCTGACCTTCAAGGTGAGGG	0.493000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				4	90					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46627868	46627868	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr22:46627868C>T	ENST00000396000.2	+	7	1156	c.891C>T	c.(889-891)ttC>ttT	p.F297F	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Silent_p.F297F|PPARA_ENST00000407236.1_Silent_p.F297F|PPARA_ENST00000402126.1_Silent_p.F297F			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	297	Ligand-binding.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCCCAGGCTTCGCAAACTTGG	0.527000													4	75					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53603138	53603138	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr13:53603138C>A	ENST00000219022.2	+	1	245	c.167C>A	c.(166-168)tCc>tAc	p.S56Y		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	56	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ggctccagctccagccgcagc	0.592000													4	138					0.00024832	0.00025958	1	1	0
VCPIP1	80124	broad.mit.edu	37	8	67578640	67578640	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr8:67578640G>C	ENST00000310421.4	-	1	812	c.554C>G	c.(553-555)tCc>tGc	p.S185C		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	185					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GAGGCTTCCGGAGCGGTCCTT	0.537000													8	165					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105417004	105417004	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:105417004T>A	ENST00000333244.5	-	7	4903	c.4784A>T	c.(4783-4785)cAg>cTg	p.Q1595L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1595						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AACATCTATCTGGGGCCCCTT	0.602000													18	223					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	87967388	87967388	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:87967388G>C	ENST00000307808.6	+	2	508	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	AFF1_ENST00000395146.4_Missense_Mutation_p.E37Q|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	30						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCCCACCAAGAGAAAGAGGC	0.408000													5	141					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71256172	71256172	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:71256172C>T	ENST00000260382.5	+	9	1082	c.822C>T	c.(820-822)atC>atT	p.I274I	LRRC49_ENST00000443425.2_Silent_p.I230I|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Silent_p.I264I|LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Silent_p.I279I	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	274				I -> T (in Ref. 1; BAA90984).		cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TCTCGGACATCACCTTTGATG	0.458000													8	115					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46265115	46265115	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr20:46265115C>G	ENST00000372004.3	+	12	2201	c.1985C>G	c.(1984-1986)tCt>tGt	p.S662C	NCOA3_ENST00000341724.6_Missense_Mutation_p.S672C|NCOA3_ENST00000371998.3_Missense_Mutation_p.S662C|NCOA3_ENST00000371997.3_Missense_Mutation_p.S672C	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	662	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTCTCCTCCTCTACATCTGGA	0.483000													30	108					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480869	140480869	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:140480869C>T	ENST00000231130.2	+	1	636	c.636C>T	c.(634-636)ctC>ctT	p.L212L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		212	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTAACGCTCACCGCGCTGG	0.567000													8	37					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26960992	26960992	+	Silent	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:26960992G>T	ENST00000528896.2	-	17	3257	c.3183C>A	c.(3181-3183)atC>atA	p.I1061I	KIAA0100_ENST00000544884.1_Silent_p.I918I|RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.I918I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1061						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCAAGTGCAAGATCTGACGCC	0.557000													5	56					2.7689e-08	3.00192e-08	1	1	0
MUC17	140453	broad.mit.edu	37	7	100679217	100679217	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:100679217C>G	ENST00000306151.4	+	3	4584	c.4520C>G	c.(4519-4521)tCa>tGa	p.S1507*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1507	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)					ATAGCAATCTCAACGCCTAGT	0.473000													11	211					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64522974	64522974	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:64522974G>C	ENST00000358025.3	+	49	10287	c.10057G>C	c.(10057-10059)Gag>Cag	p.E3353Q	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E3353Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3386Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3353					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAGGAAACTGAGGCAGAAAG	0.333000													11	10					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86479787	86479787	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:86479787G>A	ENST00000394720.2	+	4	1597	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	GRM3_ENST00000536043.1_Silent_p.Q703Q|GRM3_ENST00000546348.1_Silent_p.Q423Q|GRM3_ENST00000361669.2_Silent_p.Q831Q|GRM3_ENST00000439827.1_Missense_Mutation_p.E476K			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCAACCCCAGAAGAATGTTG	0.493000													4	46					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76412728	76412728	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:76412728G>C	ENST00000370014.3	+	19	3275	c.2656G>C	c.(2656-2658)Gat>Cat	p.D886H	SENP6_ENST00000447266.2_Missense_Mutation_p.D886H|SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Missense_Mutation_p.D879H	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	886	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GAAAGTTGCTGATAGGACTAA	0.313000													8	128					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597384	179597384	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:179597384G>A	ENST00000589042.1	-	56	16628	c.16404C>T	c.(16402-16404)tgC>tgT	p.C5468C	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.C4224C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.C5151C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5151	Ig-like 35.						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)			TGCTCTTCAGGCAGACTGCTG	0.443000													4	28					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005982	30005982	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:30005982C>T	ENST00000279392.3	-	4	1314	c.484G>A	c.(484-486)Gag>Aag	p.E162K	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	162	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TTTTCCTCCTCCTCACTGCTC	0.572000													8	257					0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795236	30795236	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:30795236C>G	ENST00000013222.5	+	3	577	c.561C>G	c.(559-561)ctC>ctG	p.L187L	INMT_ENST00000409539.1_Silent_p.L186L|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	187						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CCTCACTGCTCAAGCCGGGTG	0.627000													6	87					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38991111	38991111	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:38991111C>G	ENST00000357387.3	-	7	553	c.523G>C	c.(523-525)Gat>Cat	p.D175H	RICTOR_ENST00000296782.5_Missense_Mutation_p.D175H	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	175					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)					TGAAGTCCATCATTTCCAACT	0.353000													4	69					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115365556	115365556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:115365556G>A	ENST00000369358.4	-	34	4148	c.3904C>T	c.(3904-3906)Cag>Tag	p.Q1302*	NRAP_ENST00000360478.3_Nonsense_Mutation_p.Q1259*|NRAP_ENST00000359988.3_Nonsense_Mutation_p.Q1294*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.Q1267*			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1294						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)		CGGGCAGCCTGGAAGGGGAGC	0.443000													5	265					0	0	1	0	0
ARL8A	127829	broad.mit.edu	37	1	202104293	202104293	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:202104293C>G	ENST00000272217.2	-	6	664	c.496G>C	c.(496-498)Gaa>Caa	p.E166Q		NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	166					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						TTGTCCTTTTCTTTGCAAGAG	0.532000											OREG0012976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	68					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21071651	21071651	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:21071651C>G	ENST00000261383.3	-	26	3746	c.3747G>C	c.(3745-3747)caG>caC	p.Q1249H	DNAH3_ENST00000415178.1_Missense_Mutation_p.Q1249H	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1249	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)		TCTGCTCCACCTGCTGGAGCC	0.542000													38	129					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55481222	55481222	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:55481222C>G	ENST00000394600.3	-	8	1355	c.619G>C	c.(619-621)Gca>Cca	p.A207P	MTIF2_ENST00000263629.4_Missense_Mutation_p.A207P|MTIF2_ENST00000403721.1_Missense_Mutation_p.A207P	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	207	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GTTTCCACTGCTGCCACTTGA	0.418000													13	71					0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202070673	202070673	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:202070673C>T	ENST00000286186.6	+	7	1225	c.790C>T	c.(790-792)Cta>Tta	p.L264L	CASP10_ENST00000272879.5_Silent_p.L264L|CASP10_ENST00000448480.1_Intron|CASP10_ENST00000346817.5_Intron|CASP10_ENST00000492363.1_Intron|CASP10_ENST00000360132.3_Intron|CASP10_ENST00000313728.7_Intron	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	264					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TGCTAACACTCTAAACTCTGA	0.388000													3	25					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52851029	52851029	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:52851029G>C	ENST00000266041.4	-	21	2438	c.2342C>G	c.(2341-2343)tCa>tGa	p.S781*	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.S751*|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.S765*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.S786*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	781					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TTCGATCCATGAGAACCCAGC	0.587000													4	90					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158630533	158630533	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:158630533G>A	ENST00000424310.2	-	2	452	c.93C>T	c.(91-93)gtC>gtT	p.V31V	RNF145_ENST00000274542.2_Silent_p.V59V|RNF145_ENST00000520638.1_Silent_p.V45V|RNF145_ENST00000518802.1_Silent_p.V61V|RNF145_ENST00000521606.2_Silent_p.V48V|RNF145_ENST00000519865.1_Silent_p.V31V	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	31						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAAGGAGCTGACATCCCATC	0.438000													12	84					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61450200	61450200	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:61450200C>T	ENST00000398571.2	-	64	7820	c.7744G>A	c.(7744-7746)Gaa>Aaa	p.E2582K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2582					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTTACATGTTCTGCAAGTCGA	0.388000													5	36					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17171735	17171735	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:17171735C>G	ENST00000377833.4	-	1	95	c.30G>C	c.(28-30)tgG>tgC	p.W10C	CUBN_ENST00000377823.1_Missense_Mutation_p.W10C	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	10					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAGCAAACTCCAAAGAAAAG	0.423000													9	51					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801836	9801836	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:9801836C>G	ENST00000457674.2	-	5	861	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	115	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAATTACCCTCAAAGATGTTC	0.418000													31	129					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20597372	20597372	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:20597372G>A	ENST00000504154.1	+	31	3487	c.3235G>A	c.(3235-3237)Gac>Aac	p.D1079N	SLIT2_ENST00000503837.1_Missense_Mutation_p.D1075N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1071N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D1092N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1079	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGATTTTGACGACTGCCAAGA	0.473000													12	112					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45605262	45605262	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:45605262C>G	ENST00000267430.5	+	1	113	c.28C>G	c.(28-30)Cag>Gag	p.Q10E	FANCM_ENST00000542564.2_Missense_Mutation_p.Q10E|FANCM_ENST00000556036.1_Missense_Mutation_p.Q10E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	10					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						AACGCTTTTTCAGACGTGGGG	0.592000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	63					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111415	142111415	+	RNA	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:142111415G>C	ENST00000390378.1	-	0	320																											CACAGAGATAGAGGGCCGAGT	0.517000													4	94					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31473465	31473465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:31473465G>T	ENST00000252229.6	+	2	221	c.142G>T	c.(142-144)Gag>Tag	p.E48*	MICB_ENST00000399150.3_Nonsense_Mutation_p.E48*|MICB_ENST00000538442.1_Nonsense_Mutation_p.E16*	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	48					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GTTTCTCGCTGAGGGACATCT	0.557000													4	80					0.014758	0.0150676	1	1	0
KCNH3	23416	broad.mit.edu	37	12	49934744	49934744	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:49934744G>C	ENST00000257981.6	+	2	399	c.139G>C	c.(139-141)Gat>Cat	p.D47H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	47	PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTACTGCTCTGATGGCTTCTG	0.622000													15	40					0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112303847	112303847	+	Splice_Site	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:112303847G>C	ENST00000369702.4	+	7	1582		c.e7-1		DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_Splice_Site	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20						assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATTTCATAGAGCACAACAT	0.328000													13	63					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	69					0	0	1	0	0
TP53I13	90313	broad.mit.edu	37	17	27899044	27899044	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:27899044G>C	ENST00000301057.7	+	5	597	c.482G>C	c.(481-483)aGa>aCa	p.R161T	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	161						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		ACTCCCGGTAGAGGGAGGCTG	0.612000													4	38					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124748156	124748156	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:124748156C>T	ENST00000311127.4	-	2	560	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	165						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCTGCTGTTTCAGCGAGTAGA	0.502000													3	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640986	179640986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:179640986G>A	ENST00000589042.1	-	28	5829	c.5605C>T	c.(5605-5607)Cag>Tag	p.Q1869*	TTN_ENST00000342175.6_Nonsense_Mutation_p.Q1823*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q1869*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q1869*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q1823*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q1823*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q1869*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1584	Ig-like 9.						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)			ACTTTGGGCTGAGGGTAGCCT	0.493000													5	158					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35808587	35808587	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr9:35808587C>T	ENST00000342694.2	+	19	3049	c.2794C>T	c.(2794-2796)Cgt>Tgt	p.R932C	SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	932	Guanylate cyclase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	p.R932S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGAAATTGCTCGTATGGCCCT	0.542000													16	53					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52911911	52911911	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:52911911C>G	ENST00000252242.4	-	3	1197	c.807G>C	c.(805-807)gaG>gaC	p.E269D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	269	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAAACTCATTCTCAGCAGTGG	0.502000													9	144					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43510538	43510538	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr21:43510538G>A	ENST00000400424.2	+	6	1101	c.705G>A	c.(703-705)ctG>ctA	p.L235L	UMODL1_ENST00000408910.2_Silent_p.L307L|UMODL1_ENST00000400427.1_Silent_p.L235L|UMODL1_ENST00000408989.2_Silent_p.L307L	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCTGAACCTGGAGTGGGAAG	0.567000													7	28					0	0	1	0	0
AZI2	64343	broad.mit.edu	37	3	28379473	28379473	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:28379473C>G	ENST00000479665.1	-	4	925	c.394G>C	c.(394-396)Gaa>Caa	p.E132Q	AZI2_ENST00000457172.1_Missense_Mutation_p.E132Q|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Missense_Mutation_p.E132Q|AZI2_ENST00000420543.2_Missense_Mutation_p.E132Q	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	132						mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						AGTTCTACTTCTTTAGATTGT	0.333000													3	65					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33829917	33829917	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr21:33829917G>A	ENST00000300255.2	+	3	843	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	EVA1C_ENST00000401402.3_Missense_Mutation_p.E124K|EVA1C_ENST00000382699.3_Missense_Mutation_p.E124K	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		GGTGCTGGACGAATGCCAGAA	0.542000													8	57					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175331298	175331298	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:175331298G>A	ENST00000392552.2	-	6	1478	c.1240C>T	c.(1240-1242)Ctt>Ttt	p.L414F	GPR155_ENST00000392551.2_Missense_Mutation_p.L414F|GPR155_ENST00000295500.4_Missense_Mutation_p.L414F	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	414					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTAGTTGTAAGCATATGAGGA	0.299000													4	72					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154296709	154296709	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:154296709C>T	ENST00000285873.7	-	13	1779	c.1704G>A	c.(1702-1704)ctG>ctA	p.L568L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	568					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGATCAGTTTCAGGTTGGGAA	0.388000													4	86					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005932	30005932	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:30005932C>T	ENST00000279392.3	-	4	1364	c.534G>A	c.(532-534)aaG>aaA	p.K178K	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	178	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GTGCCTGCTTCTTTACCACAG	0.577000													7	231					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8242571	8242571	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:8242571C>G	ENST00000539824.1	+	18	4046	c.3672C>G	c.(3670-3672)ttC>ttG	p.F1224L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.F1300L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1300							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGCTCTTCTTCTACCAGAAGG	0.627000													3	63					0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10825118	10825118	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:10825118C>G	ENST00000526148.1	-	9	1232	c.722G>C	c.(721-723)aGa>aCa	p.R241T	EIF4G2_ENST00000339995.5_Missense_Mutation_p.R241T|EIF4G2_ENST00000525681.1_Missense_Mutation_p.R241T|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R241T	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	241	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAGTTGGACTCTCTTCTTCTT	0.423000													6	19					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97099039	97099039	+	Missense_Mutation	SNP	C	C	T	rs140879014		TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:97099039C>T	ENST00000371247.2	-	29	2905	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K	SORBS1_ENST00000277982.5_Missense_Mutation_p.E928K|SORBS1_ENST00000371246.2_Missense_Mutation_p.E928K|SORBS1_ENST00000361941.3_Missense_Mutation_p.E906K|SORBS1_ENST00000393949.1_Missense_Mutation_p.E876K|SORBS1_ENST00000354106.3_Missense_Mutation_p.E876K|SORBS1_ENST00000371241.1_Missense_Mutation_p.E556K|SORBS1_ENST00000306402.6_Missense_Mutation_p.E653K|SORBS1_ENST00000607232.1_Missense_Mutation_p.E1166K|SORBS1_ENST00000371245.3_Missense_Mutation_p.E757K|SORBS1_ENST00000353505.5_Missense_Mutation_p.E757K|SORBS1_ENST00000371249.2_Missense_Mutation_p.E688K|SORBS1_ENST00000347291.4_Missense_Mutation_p.E718K|SORBS1_ENST00000371239.1_Missense_Mutation_p.E683K|SORBS1_ENST00000371227.4_Missense_Mutation_p.E860K			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	906	SH3 2.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCCTCCCTTCGTACCAGTTC	0.552000													5	61					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494479	123494479	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:123494479G>A	ENST00000280562.5	-	5	766	c.561C>T	c.(559-561)atC>atT	p.I187I	PITPNM2_ENST00000542749.1_Silent_p.I187I|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Silent_p.I187I|PITPNM2_ENST00000546049.1_Silent_p.I187I|PITPNM2_ENST00000392428.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	187					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)		ATGCGCACATGATGGGGAAGA	0.577000													4	135					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2637104	2637104	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr20:2637104C>T	ENST00000329276.5	+	9	1584	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	356	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ACTCCACCTTCATTGGCCGAG	0.463000													7	64					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148069076	148069076	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:148069076G>C	ENST00000370460.2	+	20	4282	c.3803G>C	c.(3802-3804)aGa>aCa	p.R1268T	AFF2_ENST00000342251.3_Missense_Mutation_p.R1235T|AFF2_ENST00000286437.5_Missense_Mutation_p.R909T|AFF2_ENST00000370457.5_Missense_Mutation_p.R1233T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1268					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAACTGACAAGAGAAAACAAA	0.468000													7	41					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135615076	135615076	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr8:135615076C>T	ENST00000520727.1	-	7	1149	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	ZFAT_ENST00000429442.2_Missense_Mutation_p.E284K|ZFAT_ENST00000520214.1_Missense_Mutation_p.E284K|ZFAT_ENST00000377838.3_Missense_Mutation_p.E296K|ZFAT_ENST00000520356.1_Missense_Mutation_p.E284K|ZFAT_ENST00000523399.1_Missense_Mutation_p.E234K	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TATGGCTTTTCATTGGTGTGG	0.532000													10	64					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166709	140166709	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:140166709C>G	ENST00000504120.2	+	1	834	c.834C>G	c.(832-834)gtC>gtG	p.V278V	PCDHA1_ENST00000394633.3_Silent_p.V278V|PCDHA1_ENST00000378133.3_Silent_p.V278V	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAAGTCGTCTTTTCCTTTG	0.383000													10	104					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53804989	53804989	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:53804989C>T	ENST00000426431.2	+	6	2362	c.2302C>T	c.(2302-2304)Ctg>Ttg	p.L768L	SP1_ENST00000327443.4_Silent_p.L775L	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	775	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGTGGCAGATCTGCAGTCCAT	0.542000													6	57					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37323608	37323608	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:37323608G>C	ENST00000361924.2	+	3	696	c.322G>C	c.(322-324)Gac>Cac	p.D108H	GOLGA4_ENST00000356847.4_Missense_Mutation_p.D130H|GOLGA4_ENST00000444882.1_Missense_Mutation_p.D108H|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	108					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACTTGACCTGGACAGTTCTAC	0.433000													5	104					0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115905457	115905457	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:115905457C>T	ENST00000369287.3	-	5	1218	c.952G>A	c.(952-954)Ggt>Agt	p.G318S		NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	318										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCCTTCTCACCTCTTACATAT	0.308000													14	38					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78181578	78181578	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:78181578C>T	ENST00000264914.4	-	5	1507	c.971G>A	c.(970-972)gGa>gAa	p.G324E	ARSB_ENST00000396151.3_Missense_Mutation_p.G324E|ARSB_ENST00000565165.1_Missense_Mutation_p.G324E|ARSB_ENST00000521800.1_5'UTR	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	324					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TCGGACGCCTCCTTCCCACAG	0.567000													5	110					0	0	1	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278090	89278090	+	RNA	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:89278090C>G	ENST00000390247.2	-	0	341																											GCCACTGAACCTGGCTGGGAT	0.527000													5	90					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44127559	44127559	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:44127559C>G	ENST00000222374.2	-	9	1138	c.1090G>C	c.(1090-1092)Gat>Cat	p.D364H		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	364					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CCCTGTTCATCCAAGCCACTG	0.557000													4	194					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75583999	75583999	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:75583999C>G	ENST00000238616.5	-	6	819	c.661G>C	c.(661-663)Gag>Cag	p.E221Q		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	221	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TGACAGAGCTCTGGAGACATG	0.393000													3	50					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53139697	53139697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:53139697G>A	ENST00000296292.3	-	9	1010	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	RFT1_ENST00000394738.3_Nonsense_Mutation_p.Q278*	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	317					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		ACCTGCTTCTGAAGTGTGGCA	0.413000													5	171					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46725320	46725320	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr22:46725320C>T	ENST00000454366.1	+	11	2204	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	645					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GCCAGCCCCTCATTGACCTTC	0.522000													4	137					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746431	15746431	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr21:15746431G>A	ENST00000285667.3	-	5	990	c.923C>T	c.(922-924)tCa>tTa	p.S308L	HSPA13_ENST00000544452.1_Missense_Mutation_p.S100L	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	308						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TAGTAATACTGACAACTGAGC	0.458000													6	33					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15869997	15869997	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:15869997C>T	ENST00000452625.2	-	9	935	c.848G>A	c.(847-849)aGa>aAa	p.R283K	MYH11_ENST00000396324.3_Missense_Mutation_p.R283K|MYH11_ENST00000576790.2_Missense_Mutation_p.R276K|MYH11_ENST00000300036.5_Missense_Mutation_p.R276K	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	276	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTCTCGTCTCTGGCTTGGCG	0.483000			T	CBFB	AML								22	146					0	0	1	0	0
SSX1	6756	broad.mit.edu	37	X	48125805	48125805	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:48125805G>A	ENST00000376919.3	+	7	686	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						CAGTGACCCTGAGGAAGATGA	0.493000			T	SS18	synovial sarcoma								11	135					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171902771	171902771	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:171902771G>C	ENST00000442919.2	-	11	1553	c.938C>G	c.(937-939)tCt>tGt	p.S313C	TLK1_ENST00000521943.1_Missense_Mutation_p.S313C|TLK1_ENST00000360843.3_Missense_Mutation_p.S382C|TLK1_ENST00000431350.2_Missense_Mutation_p.S361C|TLK1_ENST00000434911.2_Missense_Mutation_p.S265C	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	361					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AGAATTGGTAGAGGGTGCCTG	0.413000													5	77					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101735262	101735262	+	Missense_Mutation	SNP	G	G	A	rs139495343	by1000genomes	TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:101735262G>A	ENST00000506729.1	-	10	1982	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.T542M|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.T604M|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.T351M|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.T351M			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	604						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TACATACCGCGTCATGGCCAA	0.284000													12	33					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88939934	88939934	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:88939934C>G	ENST00000298786.4	+	8	2387	c.2273C>G	c.(2272-2274)tCt>tGt	p.S758C	FAM35A_ENST00000298784.1_Missense_Mutation_p.S689C			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	689										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGTATTTTTTCTTCTCTTCCC	0.398000													4	77					0	0	1	0	0
CDRT4	284040	broad.mit.edu	37	17	15341416	15341416	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:15341416C>G	ENST00000312177.6	-	4	410	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR|TVP23C_ENST00000519970.1_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	44										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		TTGCTTTTCTCAATGAGTCTT	0.488000													5	56					0	0	1	0	0
NQO2	4835	broad.mit.edu	37	6	3019730	3019730	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:3019730C>G	ENST00000338130.2	+	10	1249	c.537C>G	c.(535-537)ttC>ttG	p.F179L	NQO2_ENST00000380455.4_Missense_Mutation_p.F179L|NQO2_ENST00000380430.1_Missense_Mutation_p.F179L|NQO2_ENST00000380441.1_Missense_Mutation_p.F141L|NQO2_ENST00000380454.4_Missense_Mutation_p.F141L			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	179						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	CATTACACTTCTGTGGATTTA	0.453000													7	170					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698168	49698168	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:49698168G>A	ENST00000296452.4	+	6	9004	c.8890G>A	c.(8890-8892)Gag>Aag	p.E2964K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2964					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAAGCAGGCAGAGCTGGATGA	0.602000													3	15					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													8	25					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102647047	102647047	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:102647047C>G	ENST00000279441.4	-	6	932	c.896G>C	c.(895-897)aGc>aCc	p.S299T		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	299	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CCTCAGAGTGCTGATGGCATC	0.443000													5	86					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452286	26452286	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:26452286G>C	ENST00000244519.2	+	11	1645	c.1402G>C	c.(1402-1404)Gag>Cag	p.E468Q	BTN3A3_ENST00000361232.3_Missense_Mutation_p.E419Q|BTN3A3_ENST00000339789.4_Missense_Mutation_p.E426Q	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	468	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CCTGGACTATGAGACTGGAGA	0.488000													6	125					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105568	168105568	+	Missense_Mutation	SNP	G	G	C	rs145874680	by1000genomes	TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:168105568G>C	ENST00000409195.1	+	9	7755	c.7666G>C	c.(7666-7668)Gaa>Caa	p.E2556Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2334Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2556Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2381					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAACAAAAAGAAGAAATTGA	0.313000													11	55					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976363	131976363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:131976363G>T	ENST00000356920.5	+	1	482	c.388G>T	c.(388-390)Gag>Tag	p.E130*	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Nonsense_Mutation_p.E130*	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	130							ATP binding										CGCCTTCATGGAGCCCAGGTA	0.602000													4	96					4.096e-09	4.45173e-09	1	1	0
ASMTL	8623	broad.mit.edu	37	X	1540622	1540622	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:1540622C>G	ENST00000534940.1	-	9	1225	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	ASMTL_ENST00000381333.4_Missense_Mutation_p.E376Q|ASMTL_ENST00000416733.2_Missense_Mutation_p.E316Q|ASMTL_ENST00000381317.3_Missense_Mutation_p.E392Q	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	392	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				ATGGCAAACTCCAGGTATGTA	0.532000													5	148					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973621	235973621	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:235973621G>C	ENST00000389794.3	-	5	671	c.497C>G	c.(496-498)tCa>tGa	p.S166*	LYST_ENST00000389793.2_Nonsense_Mutation_p.S166*|LYST_ENST00000536965.1_Nonsense_Mutation_p.S166*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	166					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTGAATCTGAGGTGGAGAG	0.393000													5	125					0	0	1	0	0
RCN2	5955	broad.mit.edu	37	15	77228016	77228016	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:77228016G>C	ENST00000394885.3	+	3	623	c.400G>C	c.(400-402)Gat>Cat	p.D134H	RCN2_ENST00000394883.3_Intron|RCN2_ENST00000320963.5_Missense_Mutation_p.D134H	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	134						endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						GATTGACTTTGATGAGAACAC	0.378000													5	69					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801142	9801142	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:9801142G>A	ENST00000457674.2	-	5	1555	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGTAAGGGTTGAGGATCCATT	0.418000													8	141					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696531	169696531	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:169696531C>G	ENST00000333360.7	-	10	1743	c.1604G>C	c.(1603-1605)gGa>gCa	p.G535A	SELE_ENST00000367781.4_Missense_Mutation_p.G472A|SELE_ENST00000367775.1_Missense_Mutation_p.G410A|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.G472A|SELE_ENST00000367779.4_Missense_Mutation_p.G409A|SELE_ENST00000367782.4_Missense_Mutation_p.G472A|SELE_ENST00000367774.1_Missense_Mutation_p.G409A|SELE_ENST00000367777.1_Missense_Mutation_p.G472A|SELE_ENST00000367780.4_Missense_Mutation_p.G410A	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	535	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCCTGTGGCTCCACATGTCCG	0.527000													3	44					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121342113	121342113	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:121342113G>C	ENST00000338040.4	+	3	2251	c.1837G>C	c.(1837-1839)Gag>Cag	p.E613Q		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	613	F-box.				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TTTGTTACAAGAGAGAGGAAT	0.473000													4	65					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123276936	123276936	+	Silent	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:123276936G>C	ENST00000358487.5	-	8	1253	c.981C>G	c.(979-981)ctC>ctG	p.L327L	FGFR2_ENST00000357555.5_Silent_p.L238L|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000478859.1_Silent_p.L99L|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369056.1_Intron|FGFR2_ENST00000351936.6_Silent_p.L327L|FGFR2_ENST00000356226.4_Silent_p.L212L|FGFR2_ENST00000457416.2_Intron|FGFR2_ENST00000346997.2_Silent_p.L327L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	327	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TCCGAATATAGAGAACCTCAA	0.468000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				14	47					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230928604	230928604	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:230928604C>G	ENST00000354537.1	+	16	1804	c.1722C>G	c.(1720-1722)ttC>ttG	p.F574L	RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.F537L|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.F600L	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	600	Domain IV.|EF-hand 2.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGAACCTTTTCCTTCGGTTTG	0.532000													14	143					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49354431	49354431	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr20:49354431C>G	ENST00000371610.2	+	2	347	c.104C>G	c.(103-105)tCa>tGa	p.S35*	PARD6B_ENST00000396039.1_Nonsense_Mutation_p.S35*	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	35	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CTGGAAAGATCAAAACCTGGA	0.343000													3	72					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444607	82444607	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:82444607C>T	ENST00000268206.7	-	18	2356	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	EFTUD1_ENST00000359445.3_Missense_Mutation_p.E679K	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	730					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGGATTCCTTCAGGGATTTTG	0.438000													8	112					0	0	1	0	0
PGAM5	192111	broad.mit.edu	37	12	133295388	133295388	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:133295388G>C	ENST00000317555.2	+	6	818	c.760G>C	c.(760-762)Ggg>Cgg	p.G254R	PGAM5_ENST00000454808.2_Intron|PGAM5_ENST00000498926.2_Intron|PGAM5_ENST00000541034.1_Intron|PGAM5_ENST00000543955.1_Intron|PXMP2_ENST00000545677.1_Intron	NM_138575.3	NP_612642.2	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	0						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		TGTGCTTCTGGGGTCCTGACC	0.637000													4	69					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953399	25953399	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:25953399T>A	ENST00000356865.6	-	11	2504	c.2393A>T	c.(2392-2394)aAt>aTt	p.N798I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	798					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTTGAGGTAATTCTGAGTTTT	0.557000													8	66					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28849333	28849333	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:28849333C>G	ENST00000422425.2	+	50	3629	c.3585C>G	c.(3583-3585)ctC>ctG	p.L1195L	PLB1_ENST00000327757.5_Silent_p.L1206L|PLB1_ENST00000541605.1_Silent_p.L171L	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1206	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGTCACACTCTTCATTGGGG	0.532000													5	52					0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55752363	55752363	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:55752363C>G	ENST00000284073.2	+	12	1030	c.821C>G	c.(820-822)cCg>cGg	p.P274R	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000416426.2_Missense_Mutation_p.P270R|MSI2_ENST00000442934.2_Missense_Mutation_p.P213R	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	274						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GGAGGCTTCCCGGGGGCCAAC	0.662000			T	HOXA9	CML								9	105					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4836877	4836877	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:4836877C>T	ENST00000329125.5	+	2	1053	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	326										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GGGGTCTATTCTACTCATGGT	0.522000													4	71					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171356275	171356275	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:171356275G>C	ENST00000334231.6	+	27	3273	c.3273G>C	c.(3271-3273)agG>agC	p.R1091S	MYO3B_ENST00000409044.3_Missense_Mutation_p.R1082S|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000408978.4_Missense_Mutation_p.R1082S			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1082	IQ 2.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GATACAAAAGGGTCAGAGAGA	0.468000													13	39					0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100866799	100866799	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:100866799C>T	ENST00000305105.2	+	3	763	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	79							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					TTTTAAACTTCGCTTCCGAAA	0.552000													5	123					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151377585	151377585	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:151377585A>G	ENST00000271715.2	-	19	4240	c.3926T>C	c.(3925-3927)cTa>cCa	p.L1309P	POGZ_ENST00000392723.1_Missense_Mutation_p.L1256P|POGZ_ENST00000361398.3_Missense_Mutation_p.L1256P|POGZ_ENST00000491586.1_Missense_Mutation_p.L1265P|POGZ_ENST00000540984.1_Missense_Mutation_p.L671P|POGZ_ENST00000531094.1_Missense_Mutation_p.L1247P|POGZ_ENST00000368863.2_Missense_Mutation_p.L1214P|POGZ_ENST00000409503.1_Missense_Mutation_p.L1300P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1309	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			AATGACACCTAGCACTTCACC	0.512000													20	108					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22828850	22828850	+	Silent	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:22828850G>C	ENST00000404138.1	+	6	1594	c.1083G>C	c.(1081-1083)ctG>ctC	p.L361L	ZBTB40_ENST00000375647.4_Silent_p.L361L|ZBTB40_ENST00000374651.4_Intron	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	361					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAGAGGACCTGATACAGTGTG	0.473000													5	65					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703877	88703877	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:88703877C>G	ENST00000372027.5	-	6	985	c.664G>C	c.(664-666)Gat>Cat	p.D222H	MMRN2_ENST00000488950.1_5'UTR	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2							extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AAGGATCTATCAGGGAACTCT	0.582000													4	110					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203758	56203758	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr18:56203758C>G	ENST00000361673.3	-	5	3874	c.3661G>C	c.(3661-3663)Gag>Cag	p.E1221Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1221							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTTTAGACTCTTCCAAAAGG	0.498000													4	126					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349860	89349860	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:89349860C>G	ENST00000301030.4	-	9	3550	c.3090G>C	c.(3088-3090)gaG>gaC	p.E1030D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E1030D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1030	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)		CACTGGATTTCTCTTTGTATC	0.423000													6	270					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30004822	30004822	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:30004822C>T	ENST00000279392.3	-	6	2295	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	HIRIP3_ENST00000564026.1_Silent_p.*176*	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	489					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGGCCACCTCAGCTGCCTCC	0.597000													6	112					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4131057	4131057	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:4131057C>G	ENST00000465828.1	-	3	451	c.166G>C	c.(166-168)Gac>Cac	p.D56H	ECI2_ENST00000361538.2_Missense_Mutation_p.D56H|ECI2_ENST00000380118.3_Missense_Mutation_p.D86H|ECI2_ENST00000380125.2_Missense_Mutation_p.D56H|ECI2_ENST00000413766.2_5'UTR|C6orf201_ENST00000380175.4_3'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	86	ACB.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TTGATCAAGTCAAATACACCT	0.443000													9	91					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25953403	25953403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:25953403G>A	ENST00000356865.6	-	11	2500	c.2389C>T	c.(2389-2391)Cag>Tag	p.Q797*		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	797					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGTAATTCTGAGTTTTGCTC	0.547000													7	64					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808301	20808301	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:20808301C>G	ENST00000601440.1	-	4	528	c.382G>C	c.(382-384)Gaa>Caa	p.E128Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTATAACCTTCTTTGTGCACC	0.308000													4	106					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67181013	67181013	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:67181013G>A	ENST00000219139.3	+	16	1436	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	C16orf70_ENST00000569600.1_Silent_p.L416L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	416										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GTAGCCACCTGAGAACAGCGG	0.612000													8	80					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90353795	90353795	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:90353795C>T	ENST00000369393.3	-	102	16835	c.16720G>A	c.(16720-16722)Gca>Aca	p.A5574T	MDN1_ENST00000428876.1_Missense_Mutation_p.A5574T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5574	VWFA.				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)		TCAGGAAGTGCGTTTACATCT	0.453000													15	56					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970026	160970026	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:160970026G>C	ENST00000368026.6	-	5	775	c.501C>G	c.(499-501)ttC>ttG	p.F167L	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.F118L|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	167	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TCCCATCTTTGAACCAGGTGT	0.512000													4	74					0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30511098	30511098	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr8:30511098C>T	ENST00000355904.4	-	2	300	c.18G>A	c.(16-18)ttG>ttA	p.L6L		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	6					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CCCTTTCTCTCAACAGGCTTG	0.383000													3	47					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258383	16258383	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:16258383C>G	ENST00000375759.3	+	11	5852	c.5648C>G	c.(5647-5649)tCt>tGt	p.S1883C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1883					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTAAAAACTCTGCTGCAGAC	0.488000													4	58					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52398683	52398683	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:52398683G>A	ENST00000420323.2	+	33	5535	c.5274G>A	c.(5272-5274)gtG>gtA	p.V1758V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1758	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAGAGCCGTGAAAACTGTGA	0.572000													4	58					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121132123	121132123	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:121132123G>C	ENST00000273666.6	+	25	3410	c.3139G>C	c.(3139-3141)Gaa>Caa	p.E1047Q	STXBP5L_ENST00000471454.1_Missense_Mutation_p.E1023Q	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1047					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTCTCCTACTGAAATTCAGCG	0.383000													3	65					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74738093	74738093	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:74738093C>G	ENST00000588460.1	+	4	2345	c.303C>G	c.(301-303)ttC>ttG	p.F101L	MFSD11_ENST00000586622.1_Missense_Mutation_p.F101L|MFSD11_ENST00000336509.4_Missense_Mutation_p.F101L|MFSD11_ENST00000593181.1_Missense_Mutation_p.F101L|MFSD11_ENST00000355954.3_Missense_Mutation_p.F101L|MFSD11_ENST00000590514.1_Missense_Mutation_p.F101L	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	101						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CGTGGTCCTTCTACACAGCCT	0.393000													7	218					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36110926	36110926	+	Silent	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:36110926G>T	ENST00000203166.5	+	16	1444	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	473					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGAAGCCCCTGCCCACGGTCC	0.662000													23	141					1.64293e-13	1.79006e-13	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	34					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22956382	22956382	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:22956382T>G	ENST00000435939.2	+	1	628	c.326T>G	c.(325-327)aTa>aGa	p.I109R	CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	NM_001033028.1	NP_001028200.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	0					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GAGTTTGGCATAACTAATGTA	0.527000													20	38					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10312562	10312562	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:10312562C>A	ENST00000287652.4	+	4	2747	c.1696C>A	c.(1696-1698)Cat>Aat	p.H566N	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.H566N	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	566						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGTCACCCTCATTTTGCACG	0.502000													12	125					1.08611e-07	1.17461e-07	1	1	0
CTRC	11330	broad.mit.edu	37	1	15771171	15771171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:15771171G>C	ENST00000375949.4	+	6	590	c.564G>C	c.(562-564)agG>agC	p.R188S	CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	188	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGCTCCAGGATTGACTGGT	0.612000													5	51					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031055	52031055	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:52031055G>A	ENST00000346477.3	-	6	1154	c.1086C>T	c.(1084-1086)gcC>gcT	p.A362A	SIGLEC6_ENST00000436458.1_Silent_p.A326A|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000425629.3_Silent_p.A378A|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000359982.4_Intron|SIGLEC6_ENST00000343300.4_Intron	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	378					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCACTGGCTGGGCTGCTTTCT	0.493000													19	86					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38667069	38667069	+	RNA	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:38667069C>G	ENST00000494540.1	+	0	1037					NR_003086.1																						gcagaaggatcacttgagacc	0.458000													3	17					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64537446	64537446	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:64537446T>A	ENST00000377390.3	-	5	806	c.469A>T	c.(469-471)Atc>Ttc	p.I157F	SF1_ENST00000227503.9_Missense_Mutation_p.I157F|SF1_ENST00000334944.5_Missense_Mutation_p.I157F|SF1_ENST00000422298.2_Missense_Mutation_p.I42F|SF1_ENST00000377394.3_Missense_Mutation_p.I157F|SF1_ENST00000433274.2_Missense_Mutation_p.I131F|SF1_ENST00000377387.1_Missense_Mutation_p.I282F	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	157	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTGGGCCCGATGAGCAGCCCC	0.463000													22	29					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113262	65113262	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:65113262G>C	ENST00000528416.1	+	7	896	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.E269Q|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	255					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CCAGAGGTCTGAGGAGCAGAA	0.552000													11	30					0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102358797	102358797	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:102358797G>A	ENST00000332238.4	+	1	432	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGACCATCATGAGCCCAAGAA	0.443000													4	141					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60640939	60640939	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:60640939G>C	ENST00000278853.5	+	8	1332	c.1332G>C	c.(1330-1332)caG>caC	p.Q444H		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	444	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCTTCTGCAGAGGACAGACC	0.627000													3	80					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15282016	15282016	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:15282016C>T	ENST00000253693.2	+	13	1697	c.1444C>T	c.(1444-1446)Cat>Tat	p.H482Y		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	482	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TCCTTGGAGTCATTTACGTTG	0.338000													26	88					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106632986	106632986	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:106632986G>A	ENST00000378026.4	-	2	1761	c.1625C>T	c.(1624-1626)tCa>tTa	p.S542L		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	542						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.S542L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TTGGCTGACTGAGGCTTTCAG	0.532000													7	106					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79942876	79942876	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr13:79942876C>G	ENST00000438737.2	-	6	1324	c.884G>C	c.(883-885)aGa>aCa	p.R295T	RBM26_ENST00000267229.7_Missense_Mutation_p.R295T|RBM26_ENST00000438724.1_Missense_Mutation_p.R295T			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	295					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ATCATAGTCTCTACACCGTTT	0.363000													5	98					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327482	152327482	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:152327482G>T	ENST00000388718.5	-	3	2852	c.2780C>A	c.(2779-2781)tCt>tAt	p.S927Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	927	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTGAGCCAGAACCATGTTG	0.488000													8	291					5.18039e-06	5.52071e-06	1	1	0
DHX15	1665	broad.mit.edu	37	4	24572344	24572344	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:24572344T>A	ENST00000336812.4	-	3	790	c.634A>T	c.(634-636)Atg>Ttg	p.M212L		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	212	Helicase ATP-binding.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TGGCCCAACATCACATCCATC	0.458000													18	34					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82450385	82450385	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:82450385C>T	ENST00000370728.1	+	22	4034	c.3389C>T	c.(3388-3390)tCt>tTt	p.S1130F	LPHN2_ENST00000335786.5_Missense_Mutation_p.S1130F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S1055F|LPHN2_ENST00000370723.1_Missense_Mutation_p.S1132F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S1117F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S1145F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.S1130F|LPHN2_ENST00000370715.1_Missense_Mutation_p.S1117F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S1117F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S1145F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S1145F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S1145F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S1117F|LPHN2_ENST00000394879.1_Missense_Mutation_p.S1132F			O95490	LPHN2_HUMAN	latrophilin 2	1130					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGCTATTCCTCTGGCACACAG	0.443000													4	75					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28610101	28610101	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr13:28610101G>A	ENST00000380982.4	-	11	1470	c.1389C>T	c.(1387-1389)acC>acT	p.T463T	FLT3_ENST00000241453.7_Silent_p.T463T|FLT3_ENST00000537084.1_Silent_p.T463T			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	463					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTCTTCCAGGTCCAAGATG	0.433000			"""Mis, O"""		"""AML, ALL"""								7	221					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40747875	40747875	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:40747875C>A	ENST00000392038.2	-	6	841	c.543G>T	c.(541-543)aaG>aaT	p.K181N	AKT2_ENST00000579047.1_Missense_Mutation_p.K119N|AKT2_ENST00000424901.1_Missense_Mutation_p.K181N|AKT2_ENST00000311278.6_Missense_Mutation_p.K181N	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	181	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TCCGCAGGATCTTCATGGCGT	0.592000			A		"""ovarian, pancreatic """								4	44					0.00024832	0.00025958	1	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													7	81					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180218698	180218698	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:180218698C>T	ENST00000446023.2	-	3	2024	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	MGAT1_ENST00000393340.3_Missense_Mutation_p.R425Q|MGAT1_ENST00000333055.3_Missense_Mutation_p.R425Q|MGAT1_ENST00000427865.2_Missense_Mutation_p.R425Q|MGAT1_ENST00000307826.4_Missense_Mutation_p.R425Q	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	425					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGGCGGCCCCGGAACTGGAA	0.617000													11	40					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19510518	19510518	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:19510518C>A	ENST00000375267.2	-	16	2093	c.2090G>T	c.(2089-2091)gGa>gTa	p.G697V	UBR4_ENST00000375226.2_Missense_Mutation_p.G697V|UBR4_ENST00000375254.3_Missense_Mutation_p.G697V|UBR4_ENST00000375217.2_Missense_Mutation_p.G697V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	697					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)		ACCCTTGAGTCCATCTTTGTC	0.438000													4	90					0.184627	0.185901	1	1	0
ATR	545	broad.mit.edu	37	3	142171975	142171975	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:142171975C>T	ENST00000350721.4	-	46	7877	c.7756G>A	c.(7756-7758)Gaa>Aaa	p.E2586K	ATR_ENST00000383101.3_Missense_Mutation_p.E2522K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2586					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						CTAACCTTTTCATTGACAACT	0.398000								Other conserved DNA damage response genes					4	42					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138156	203138156	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:203138156G>C	ENST00000255416.4	-	9	1352	c.1295C>G	c.(1294-1296)tCt>tGt	p.S432C		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	432	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GCCTTGCTCAGAGAGGGCGCG	0.552000													8	106					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302099	179302099	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:179302099G>A	ENST00000356834.3	-	12	2026	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	TBC1D9B_ENST00000355235.3_Silent_p.I663I	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	663	Rab-GAP TBC.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGCTGGAGATCACCCCCA	0.597000													3	51					0	0	1	0	0
C8G	733	broad.mit.edu	37	9	139840549	139840549	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr9:139840549G>A	ENST00000224181.3	+	4	419	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	120					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CGAGACGCCCGAGGGGCTGTG	0.642000													5	18					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378865	114378865	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:114378865C>T	ENST00000312719.5	-	5	1785	c.597G>A	c.(595-597)ggG>ggA	p.G199G	HS3ST5_ENST00000411826.1_Silent_p.G199G|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	199					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCCTCTCCTTCCCCTCTAGCA	0.403000													5	197					0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924564	105924564	+	Silent	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:105924564G>C	ENST00000526793.1	-	3	1011	c.852C>G	c.(850-852)ctC>ctG	p.L284L	KBTBD3_ENST00000531837.1_Silent_p.L284L|KBTBD3_ENST00000534815.1_Silent_p.L205L	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	280										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CATCAGGGAAGAGTCCACCAG	0.358000													7	72					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40771922	40771922	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:40771922G>C	ENST00000397128.2	-	4	415	c.407C>G	c.(406-408)tCt>tGt	p.S136C	PRKAA1_ENST00000296800.4_Missense_Mutation_p.S127C|PRKAA1_ENST00000354209.3_Missense_Mutation_p.S151C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	136	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	ATCCACACCAGAAAGGATCTG	0.388000													5	120					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154834468	154834468	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:154834468G>C	ENST00000460393.1	+	6	575	c.455G>C	c.(454-456)aGa>aCa	p.R152T	MME_ENST00000462745.1_Missense_Mutation_p.R152T|MME_ENST00000360490.2_Missense_Mutation_p.R152T|MME_ENST00000492661.1_Missense_Mutation_p.R152T|MME_ENST00000493237.1_Missense_Mutation_p.R152T	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	152					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATTGATAGCAGAGGTGGAGAA	0.353000													3	65					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776883	25776883	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:25776883C>G	ENST00000377905.4	+	9	1167	c.1048C>G	c.(1048-1050)Cta>Gta	p.L350V	SLC17A4_ENST00000397076.2_Missense_Mutation_p.L120V|SLC17A4_ENST00000439485.2_Missense_Mutation_p.L120V	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	350					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTGGAGGTCTACTGGCAGA	0.502000													9	105					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852025	97852025	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:97852025T>G	ENST00000354565.2	+	1	484	c.484T>G	c.(484-486)Ttt>Gtt	p.F162V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CCATGAAGGATTTTTATTCAG	0.353000													40	50					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233961	43233961	+	Silent	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:43233961G>T	ENST00000327495.5	-	4	1141	c.957C>A	c.(955-957)atC>atA	p.I319I	PSG3_ENST00000595140.1_Silent_p.I319I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	319	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTAACTGCGGATGCCACCAT	0.488000													7	135					0.000274275	0.00028603	1	1	0
NEGR1	257194	broad.mit.edu	37	1	72400955	72400955	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:72400955C>T	ENST00000357731.5	-	2	455	c.216G>A	c.(214-216)ctG>ctA	p.L72L	NEGR1_ENST00000434200.1_Silent_p.L70L|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TTGACCGGTTCAGCCAGGCAC	0.378000													6	52					0	0	1	0	0
UBL4A	8266	broad.mit.edu	37	X	153714208	153714208	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:153714208C>T	ENST00000369660.4	-	3	350	c.265G>A	c.(265-267)Gac>Aac	p.D89N	UBL4A_ENST00000369653.4_Missense_Mutation_p.D89N|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	89					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	p.D89N(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	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)					GGTGGGGAGTCGGCCAGCCTC	0.602000													8	92					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4041119	4041119	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:4041119C>G	ENST00000337659.6	+	4	1626	c.1526C>G	c.(1525-1527)tCt>tGt	p.S509C	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S495C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	509						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGAAGTCTTTCTGAAGGAATG	0.413000													3	86					0	0	1	0	0
RNF41	10193	broad.mit.edu	37	12	56601470	56601470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:56601470G>A	ENST00000345093.4	-	6	931	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	RNF41_ENST00000552656.1_Nonsense_Mutation_p.Q188*|RNF41_ENST00000552244.1_Nonsense_Mutation_p.Q188*|RNF41_ENST00000394013.2_Nonsense_Mutation_p.Q117*	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	188					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCCAGGTTCTGAAGGTTGGGG	0.488000													6	219					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40475958	40475958	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:40475958G>C	ENST00000287598.6	+	6	820	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	BUB1B_ENST00000412359.3_Missense_Mutation_p.E223Q	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	209	BUB1 N-terminal.|Poly-Glu.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTTGGCACTTGAGAAAGAAGA	0.428000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				3	73					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42819892	42819892	+	Silent	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:42819892G>C	ENST00000314073.5	+	7	2078	c.1902G>C	c.(1900-1902)ctG>ctC	p.L634L	GLTSCR1L_ENST00000394168.1_Silent_p.L634L					GLTSCR1-like									p.L634L(1)									CAGACGGCCTGAGGCAAGCAC	0.498000													9	33					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976861	12976861	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:12976861G>C	ENST00000251472.4	+	17	2013	c.1974G>C	c.(1972-1974)caG>caC	p.Q658H		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	658	AGC-kinase C-terminal.				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						TGCTGAGGCAGAAGGCCGAGT	0.592000													3	36					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696571	169696571	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:169696571C>G	ENST00000333360.7	-	10	1703	c.1564G>C	c.(1564-1566)Gaa>Caa	p.E522Q	SELE_ENST00000367781.4_Missense_Mutation_p.E459Q|SELE_ENST00000367775.1_Missense_Mutation_p.E397Q|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.E459Q|SELE_ENST00000367779.4_Missense_Mutation_p.E396Q|SELE_ENST00000367782.4_Missense_Mutation_p.E459Q|SELE_ENST00000367774.1_Missense_Mutation_p.E396Q|SELE_ENST00000367777.1_Missense_Mutation_p.E459Q|SELE_ENST00000367780.4_Missense_Mutation_p.E397Q	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	522	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GTCCATCCTTCAGGACAGGCG	0.547000													3	43					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032171	26032171	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:26032171G>T	ENST00000244661.2	-	1	117	c.118C>A	c.(118-120)Cac>Aac	p.H40N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	40					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CGGTAACGGTGAGGCTTTTTC	0.652000													15	178					7.93312e-07	8.53736e-07	1	1	0
ABCD1	215	broad.mit.edu	37	X	152991452	152991452	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:152991452C>T	ENST00000218104.3	+	1	1130	c.731C>T	c.(730-732)tCg>tTg	p.S244L	ABCD1_ENST00000370129.4_Missense_Mutation_p.S59L	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	244	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGCCCTCGGCCATCGCC	0.697000													3	12					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44918599	44918599	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:44918599T>C	ENST00000377967.4	+	12	1123	c.1082T>C	c.(1081-1083)cTc>cCc	p.L361P	KDM6A_ENST00000543216.1_Missense_Mutation_p.L361P|KDM6A_ENST00000382899.4_Missense_Mutation_p.L361P|KDM6A_ENST00000536777.1_Missense_Mutation_p.L361P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	361					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTAGGCACTCTCTATGAATCC	0.453000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								24	8					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108924330	108924330	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:108924330G>A	ENST00000340800.2	-	7	1179	c.675C>T	c.(673-675)atC>atT	p.I225I	ACSL4_ENST00000469796.2_Silent_p.I225I|ACSL4_ENST00000348502.6_Silent_p.I184I	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	225					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CCACATAAATGATATGTTTAA	0.353000													4	53					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100375	27100375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:27100375C>T	ENST00000324856.7	+	17	4458	c.4087C>T	c.(4087-4089)Caa>Taa	p.Q1363*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q980*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1363*|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1363	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACAATGTATCAACAGCAACA	0.488000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								27	58					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37650528	37650528	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr21:37650528C>G	ENST00000399151.3	+	30	5929	c.5844C>G	c.(5842-5844)ttC>ttG	p.F1948L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1948					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCCAGCTTCCGGGCTGGCG	0.542000													3	63					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46712243	46712243	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr22:46712243C>A	ENST00000454366.1	+	7	1578	c.1366C>A	c.(1366-1368)Cta>Ata	p.L456I		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	437					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGATTCCTGTCTAAATTCCAA	0.393000													14	185					2.31682e-05	2.46303e-05	1	1	0
ZNF280A	129025	broad.mit.edu	37	22	22869147	22869147	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr22:22869147C>G	ENST00000302097.3	-	2	1060	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGGGATTTTCTTTCTTGGGA	0.433000													5	137					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727044	137727044	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:137727044C>T	ENST00000314358.5	+	8	1923	c.1723C>T	c.(1723-1725)Ctt>Ttt	p.L575F	KDM3B_ENST00000394866.1_Missense_Mutation_p.L231F|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	575					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAGATCCGTTCTTGGAACAGA	0.537000													3	49					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44169302	44169302	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:44169302C>G	ENST00000372396.3	+	20	2990	c.2856C>G	c.(2854-2856)ctC>ctG	p.L952L	KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	952	Tudor 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGGACTGTCTCCAGTTTGGTC	0.532000													7	106					0	0	1	0	0
GADD45A	1647	broad.mit.edu	37	1	68152114	68152114	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:68152114C>G	ENST00000370986.4	+	3	662	c.228C>G	c.(226-228)acC>acG	p.T76T	GADD45A_ENST00000370985.3_Silent_p.T42T|GADD45A_ENST00000460575.1_3'UTR	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	76					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			lung(2)|ovary(2)	4						TCCACTTCACCCTGATCCAGG	0.662000													16	47					0	0	1	0	0
PSENEN	55851	broad.mit.edu	37	19	36237637	36237637	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:36237637C>G	ENST00000587708.2	+	4	878	c.195C>G	c.(193-195)ctC>ctG	p.L65L	PSENEN_ENST00000222266.2_Silent_p.L65L|AC002398.9_ENST00000591613.2_Intron|PSENEN_ENST00000591949.1_3'UTR			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	65					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGGCTTCCTCTTCTGGGTGA	0.602000													12	94					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61319618	61319618	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:61319618C>G	ENST00000402291.1	+	11	1349	c.1108C>G	c.(1108-1110)Cat>Gat	p.H370D	KIAA1841_ENST00000295031.5_Missense_Mutation_p.H370D|KIAA1841_ENST00000356719.2_Missense_Mutation_p.H370D|KIAA1841_ENST00000453873.1_Missense_Mutation_p.H370D	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	370										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATGGGATGTTCATGAGTATTT	0.308000													4	99					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21873903	21873903	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:21873903C>G	ENST00000399982.2	-	14	3092	c.3028G>C	c.(3028-3030)Ggg>Cgg	p.G1010R	CHD8_ENST00000430710.3_Missense_Mutation_p.G731R|CHD8_ENST00000557364.1_Missense_Mutation_p.G1010R|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1010					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)		TTGAGATCCCCAAAGTCCTTG	0.413000													5	120					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116538543	116538543	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:116538543G>A	ENST00000410059.1	+	16	1935	c.1455G>A	c.(1453-1455)atG>atA	p.M485I	DPP10_ENST00000409163.1_Missense_Mutation_p.M435I|DPP10_ENST00000310323.8_Missense_Mutation_p.M478I|DPP10_ENST00000393147.2_Missense_Mutation_p.M489I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	485					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			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						TTAGTCCCATGAATCAACATT	0.303000													5	76					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005511	30005511	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:30005511C>T	ENST00000279392.3	-	4	1785	c.955G>A	c.(955-957)Gac>Aac	p.D319N	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	319					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TGGGTCCTGTCCTCACTCTTC	0.562000													4	94					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93125564	93125564	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:93125564C>G	ENST00000216487.7	+	7	2244	c.2085C>G	c.(2083-2085)atC>atG	p.I695M	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	695	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGGAAGCCATCAACTCATGCC	0.522000													79	152					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41550854	41550854	+	Splice_Site	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr21:41550854C>G	ENST00000400454.1	-	15	3424	c.2947G>C	c.(2947-2949)Gct>Cct	p.A983P		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	983					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCCACGTACCTGCCTCGTCC	0.597000													4	32					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931704	150931704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:150931704G>T	ENST00000309170.3	-	3	713	c.401C>A	c.(400-402)tCa>tAa	p.S134*	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Nonsense_Mutation_p.S134*	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	134						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTAACTCACTGACTGGATGAA	0.408000													5	59					0.000602214	0.000625047	1	1	0
IDI1	3422	broad.mit.edu	37	10	1088574	1088574	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:1088574C>T	ENST00000381344.3	-	4	701	c.535G>A	c.(535-537)Gag>Aag	p.E179K	IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	122	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CTGGTTACCTCTTCCAAGGGA	0.423000													5	78					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040279	247040279	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:247040279C>G	ENST00000366508.1	-	23	3151	c.3015G>C	c.(3013-3015)ctG>ctC	p.L1005L	AHCTF1_ENST00000391829.2_Silent_p.L970L|AHCTF1_ENST00000326225.3_Silent_p.L979L|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	970					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAGTTTGGTTCAGCTTCAAGG	0.383000													9	62					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38082256	38082256	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:38082256G>C	ENST00000356545.2	-	5	973	c.186C>G	c.(184-186)atC>atG	p.I62M	RSPO1_ENST00000401068.1_Missense_Mutation_p.I62M|RSPO1_ENST00000401070.1_Missense_Mutation_p.I62M|RSPO1_ENST00000401069.1_Missense_Mutation_p.I62M|RSPO1_ENST00000373059.1_Missense_Mutation_p.I35M|RSPO1_ENST00000401071.2_Missense_Mutation_p.I62M	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	62					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTCCAGCAGGATGAACAGCT	0.607000													4	105					0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166039720	166039720	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:166039720C>G	ENST00000338353.3	-	3	1133	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	FAM78B_ENST00000354422.3_Missense_Mutation_p.E182Q			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	182										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					ATGATCTTCTCCTTTGTGGTG	0.562000													11	119					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83634727	83634727	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:83634727G>C	ENST00000265362.4	-	11	1602	c.1288C>G	c.(1288-1290)Caa>Gaa	p.Q430E	SEMA3A_ENST00000436949.1_Missense_Mutation_p.Q430E	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGTGTAAATTGATAATTTACA	0.358000													8	100					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29070129	29070129	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:29070129G>A	ENST00000373812.3	+	4	1709	c.1347G>A	c.(1345-1347)atG>atA	p.M449I	YTHDF2_ENST00000541996.1_Missense_Mutation_p.M399I|YTHDF2_ENST00000542507.1_Missense_Mutation_p.M449I|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	449	YTH.				humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGTTCCATGAACGGGAAAG	0.463000													10	44					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44219877	44219877	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:44219877C>T	ENST00000371554.1	+	10	1818	c.1604C>T	c.(1603-1605)tCa>tTa	p.S535L	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S535L|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S535L			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	535					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCCTGGTCTCAGTTACCAAG	0.517000													15	34					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27324360	27324360	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:27324360C>T	ENST00000402394.1	-	6	1007	c.739G>A	c.(739-741)Gag>Aag	p.E247K	CGREF1_ENST00000405600.1_Missense_Mutation_p.E247K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.E247K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E369K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	247					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCAGCCTCTGCCTGGCCC	0.701000													7	164					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660886	77660886	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:77660886G>A	ENST00000296043.6	+	5	2513	c.1560G>A	c.(1558-1560)caG>caA	p.Q520Q		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	520					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGGGAACCAGAATGGATCTG	0.532000													4	69					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87636808	87636808	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:87636808G>T	ENST00000284262.2	+	1	298	c.56G>T	c.(55-57)tGg>tTg	p.W19L		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	19	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGTGGAGGCTGGGAGGACGGC	0.627000													10	111					0.000673444	0.000697325	1	1	0
CRB1	23418	broad.mit.edu	37	1	197404675	197404675	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:197404675A>T	ENST00000367397.1	+	5	2683	c.1825A>T	c.(1825-1827)Acc>Tcc	p.T609S	CRB1_ENST00000544212.1_Missense_Mutation_p.T709S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.T1116S|CRB1_ENST00000535699.1_Missense_Mutation_p.T1204S|CRB1_ENST00000367400.3_Missense_Mutation_p.T1228S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1228	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAATGGAGCCACCTGCATTAG	0.438000													9	49					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150398258	150398258	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:150398258C>G	ENST00000295910.6	-	9	1160	c.1108G>C	c.(1108-1110)Gat>Cat	p.D370H	FAM194A_ENST00000491361.1_Missense_Mutation_p.D224H	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	370										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AACTCACCATCTTCAGAGAAA	0.368000													7	90					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158537505	158537505	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:158537505G>A	ENST00000415822.2	+	8	1008	c.867G>A	c.(865-867)gaG>gaA	p.E289E	MFSD1_ENST00000392813.4_Silent_p.E250E|MFSD1_ENST00000264266.8_Silent_p.E240E	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	240					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAGAGCAGAGAGAATCCTTC	0.353000													19	37					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63554147	63554147	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:63554147C>G	ENST00000307078.5	-	2	905	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q	AXIN2_ENST00000375702.5_Missense_Mutation_p.E198Q|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	198	RGS.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTCACATATTCGAGGTATATA	0.483000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				9	68					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13763684	13763684	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr20:13763684C>T	ENST00000202816.1	-	2	210	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	35					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						AATCTCTTGTCAATTTTGACT	0.433000													4	83					0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115560742	115560742	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:115560742C>T	ENST00000490035.2	-	6	1368	c.869G>A	c.(868-870)tGt>tAt	p.C290Y	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.C287Y	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein		Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GGCAGCCACACAGGTGTAGTT	0.507000													4	45					0	0	1	0	0
H2AFX	3014	broad.mit.edu	37	11	118965921	118965921	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:118965921C>T	ENST00000530167.1	-	1	256	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	62					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCCAGGATCTCAGCGGTGAGG	0.682000								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	131					0	0	1	0	0
HYAL2	8692	broad.mit.edu	37	3	50355631	50355631	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:50355631C>T	ENST00000447092.1	-	3	3643	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	HYAL2_ENST00000442581.1_Missense_Mutation_p.E451K|HYAL2_ENST00000357750.4_Missense_Mutation_p.E451K|HYAL2_ENST00000395139.3_Missense_Mutation_p.E451K			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	451						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GCCCAGGCCTCGCTGGCACCT	0.627000													4	42					0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134503927	134503927	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:134503927C>T	ENST00000368594.3	+	5	615	c.338C>T	c.(337-339)tCc>tTc	p.S113F	INPP5A_ENST00000368593.3_Missense_Mutation_p.S113F|INPP5A_ENST00000487614.1_3'UTR	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	113					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CTTCATGAGTCCTTAAAAAAC	0.423000													4	114					0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77051811	77051811	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:77051811C>G	ENST00000264883.3	-	8	1194	c.1054G>C	c.(1054-1056)Gat>Cat	p.D352H	NUP54_ENST00000342467.6_Missense_Mutation_p.D172H|NUP54_ENST00000458189.2_Missense_Mutation_p.D172H|NUP54_ENST00000514987.1_Missense_Mutation_p.D304H	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	352	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						ATGCTTACATCTAATCTGGTT	0.363000													17	73					0	0	1	0	0
ZNF724P	440519	broad.mit.edu	37	19	23415021	23415021	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:23415021C>G	ENST00000418100.1	-	2	195	c.78G>C	c.(76-78)caG>caC	p.Q26H	ZNF724P_ENST00000597037.1_Missense_Mutation_p.Q26H																endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TATATAAATTCTGCTGTGCAG	0.403000													37	131					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56388416	56388416	+	Silent	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:56388416C>A	ENST00000301295.6	+	8	3002	c.2580C>A	c.(2578-2580)ctC>ctA	p.L860L	NLRP4_ENST00000346986.5_Silent_p.L804L|NLRP4_ENST00000587891.1_Silent_p.L785L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	860							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)		CCTCTGCTCTCATCAGCAATC	0.478000													22	141					2.70639e-06	2.89829e-06	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155319153	155319153	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:155319153C>G	ENST00000368346.3	-	19	8173	c.7534G>C	c.(7534-7536)Gat>Cat	p.D2512H	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2507H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2512	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGTCAGCATCAAAAGCTTCC	0.378000													4	68					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161455436	161455436	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:161455436C>G	ENST00000392142.4	+	2	446	c.298C>G	c.(298-300)Cag>Gag	p.Q100E	MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q100E|MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q100E|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q100E	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	100					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AACCAAACATCAGAGGAATAA	0.448000													3	19					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41807494	41807494	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:41807494C>G	ENST00000392006.3	+	11	1745	c.1572C>G	c.(1570-1572)ttC>ttG	p.F524L	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.F435L|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.F424L|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.F410L|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.F424L|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.F524L|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.F424L	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	524	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGAAGGCTTCCAGCGCAAAG	0.458000													3	103					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203297	41203297	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:41203297C>G	ENST00000263413.3	-	2	300	c.36G>C	c.(34-36)ctG>ctC	p.L12L	C6_ENST00000337836.5_Silent_p.L12L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	12					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCAGAGCATTCAGCAGGATGA	0.468000													4	131					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100183528	100183528	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:100183528T>C	ENST00000325103.6	-	15	1747	c.1514A>G	c.(1513-1515)cAa>cGa	p.Q505R	HPS1_ENST00000361490.4_Missense_Mutation_p.Q505R|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	505					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCTCTGCACTTGGTCCTGCAG	0.677000									Hermansky-Pudlak syndrome				8	45					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82891597	82891597	+	Splice_Site	SNP	T	T	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:82891597T>G	ENST00000306270.7	-	26	4273	c.3724A>C	c.(3724-3726)Aga>Cga	p.R1242R	IBTK_ENST00000510291.1_Splice_Site_p.R1227R|IBTK_ENST00000503631.1_Splice_Site_p.R1041R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1242					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTTTATTACCTGACAATTTTT	0.294000													3	36					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511778	61511778	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr20:61511778C>G	ENST00000266070.4	-	16	5855	c.5530G>C	c.(5530-5532)Gaa>Caa	p.E1844Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1844Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1844	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCTTGCGTTCTTCAAATTGG	0.612000													7	104					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104121517	104121517	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:104121517C>G	ENST00000369983.3	+	14	1791	c.1531C>G	c.(1531-1533)Ccc>Gcc	p.P511A		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	511					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGTGGAGAACCCCAAGATGCC	0.468000													17	114					0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52985918	52985918	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:52985918G>C	ENST00000281741.4	-	7	857	c.486C>G	c.(484-486)ttC>ttG	p.F162L	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	162					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)					TTACATATGAGAATATAATAT	0.323000													27	50					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320351	38320351	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr13:38320351G>A	ENST00000379705.3	-	3	1477	c.620C>T	c.(619-621)tCt>tTt	p.S207F	TRPC4_ENST00000379673.2_Missense_Mutation_p.S207F|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.S207F|TRPC4_ENST00000355779.2_Missense_Mutation_p.S207F|TRPC4_ENST00000426868.2_Missense_Mutation_p.S207F|TRPC4_ENST00000379681.3_Missense_Mutation_p.S207F|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.S207F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	207					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGCAATGAGAGAGGGACTGGC	0.502000													5	73					0	0	1	0	0
GPR18	2841	broad.mit.edu	37	13	99907445	99907445	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr13:99907445C>T	ENST00000340807.3	-	3	1238	c.682G>A	c.(682-684)Gag>Aag	p.E228K	UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.E228K|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.E228K			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	228						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	ATGGACTTCTCCTTGACTTTG	0.468000													5	87					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721825	50721825	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr22:50721825C>G	ENST00000449103.1	-	16	2760	c.2620G>C	c.(2620-2622)Gag>Cag	p.E874Q	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.E874Q			O15031	PLXB2_HUMAN	plexin B2	874	IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		ACGTCCACCTCGACACCCCCC	0.667000													4	50					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56601075	56601075	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:56601075G>C	ENST00000394672.3	+	6	878	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	CCDC66_ENST00000326595.7_Missense_Mutation_p.E236Q|CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000436465.2_Missense_Mutation_p.E270Q|CCDC66_ENST00000538560.1_Missense_Mutation_p.E270Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	270										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GTGGAGGAAAGAGCTAGGTAG	0.408000													5	110					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11972017	11972017	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:11972017G>T	ENST00000339865.5	+	23	4130	c.3367G>T	c.(3367-3369)Gaa>Taa	p.E1123*	USP47_ENST00000527733.1_Nonsense_Mutation_p.E1191*|USP47_ENST00000305481.6_3'UTR|USP47_ENST00000399455.2_Nonsense_Mutation_p.E1211*|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1211					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GGTTTTCCTTGAAGTTCTTGA	0.308000													10	48					0.00829132	0.00850491	1	1	0
ESYT3	83850	broad.mit.edu	37	3	138191613	138191613	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:138191613C>T	ENST00000389567.4	+	18	2335	c.2149C>T	c.(2149-2151)Ccg>Tcg	p.P717S		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	717						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATTCGCATGGCCGCCCAAGAG	0.582000													4	95					0	0	1	0	0
LYPLA1	10434	broad.mit.edu	37	8	54963661	54963661	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr8:54963661G>A	ENST00000316963.3	-	8	743	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F	LYPLA1_ENST00000522007.1_3'UTR|LYPLA1_ENST00000343231.6_Missense_Mutation_p.L168F	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	184					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			TCCACCGTAAGAGAACCAAAC	0.438000													3	51					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110251114	110251114	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:110251114T>A	ENST00000369831.2	+	8	673	c.579T>A	c.(577-579)aaT>aaA	p.N193K	GSTM1_ENST00000490021.2_3'UTR|GSTM1_ENST00000483399.2_3'UTR					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)		aaaagtgtaatgttggttgga	0.428000													5	4					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96500827	96500827	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:96500827C>G	ENST00000283109.3	-	9	1490	c.1422G>C	c.(1420-1422)atG>atC	p.M474I	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	474	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TATACTGATTCATAGCTCCCA	0.308000													7	46					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150485863	150485863	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:150485863G>A	ENST00000369047.4	+	10	1668	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	ECM1_ENST00000346569.6_Missense_Mutation_p.E390K|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.E542K	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	515					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGGAGACACTGAGAACGCCAA	0.547000													7	58					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692918	89692918	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:89692918G>C	ENST00000371953.3	+	5	1759	c.402G>C	c.(400-402)atG>atC	p.M134I		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	134	Phosphatase tensin-type.		M -> L (in prostate cancer; no effect on protein phosphatase activity; reduced phosphatase activity towards Ins(1,3,4,5)P3 but retains PtdIns(3,4,5)P3 phosphatase activity).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.A121_F145del(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.M134I(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTGGTGTAATGATATGTGCAT	0.393000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	95					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166773802	166773802	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:166773802C>G	ENST00000243344.7	-	14	2001	c.1864G>C	c.(1864-1866)Gaa>Caa	p.E622Q		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	622						cilium axoneme|cytoplasm|cytoskeleton	binding	p.E622Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCTATCAATTCAAGAAAGATC	0.358000													14	92					0	0	1	0	0
RBFOX2	23543	broad.mit.edu	37	22	36157306	36157306	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr22:36157306C>G	ENST00000405409.2	-	8	1065	c.697G>C	c.(697-699)Gat>Cat	p.D233H	RBFOX2_ENST00000438146.2_Missense_Mutation_p.D303H|RBFOX2_ENST00000397303.2_Missense_Mutation_p.D213H|RBFOX2_ENST00000414461.2_Missense_Mutation_p.D232H|RBFOX2_ENST00000416721.2_Missense_Mutation_p.D232H|RBFOX2_ENST00000262829.7_Missense_Mutation_p.D214H|RBFOX2_ENST00000359369.4_Missense_Mutation_p.D212H|RBFOX2_ENST00000449924.2_Missense_Mutation_p.D232H	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	242					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						ACTGCTGCATCATTGCCTAGG	0.393000													5	75					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661319	40661319	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr22:40661319G>A	ENST00000454349.2	+	5	1296	c.1085G>A	c.(1084-1086)aGa>aAa	p.R362K	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.R362K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	362					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GTCTCTGGCAGAGAACAGGCT	0.428000													5	63					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154920692	154920692	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:154920692G>A	ENST00000368463.3	-	6	631	c.560C>T	c.(559-561)gCa>gTa	p.A187V	PBXIP1_ENST00000368465.1_Missense_Mutation_p.A158V|PBXIP1_ENST00000542459.1_Missense_Mutation_p.A32V|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368460.3_Intron|PBXIP1_ENST00000539880.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	187					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	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)			CTCCCCGCCTGCACCCTCACC	0.682000													5	12					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64537455	64537455	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:64537455C>T	ENST00000377390.3	-	5	797	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	SF1_ENST00000227503.9_Missense_Mutation_p.G154R|SF1_ENST00000334944.5_Missense_Mutation_p.G154R|SF1_ENST00000422298.2_Missense_Mutation_p.G39R|SF1_ENST00000377394.3_Missense_Mutation_p.G154R|SF1_ENST00000433274.2_Missense_Mutation_p.G128R|SF1_ENST00000377387.1_Missense_Mutation_p.G279R	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	154	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATGAGCAGCCCCACAAAGTTG	0.473000													14	38					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127422279	127422279	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:127422279C>A	ENST00000337623.3	+	10	1355	c.1250C>A	c.(1249-1251)cCa>cAa	p.P417Q	C10orf137_ENST00000356792.4_Missense_Mutation_p.P451Q	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TACCAAAATCCATTCACAATG	0.363000													3	53					0.115264	0.116865	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411522	105411522	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:105411522G>A	ENST00000333244.5	-	7	10385	c.10266C>T	c.(10264-10266)gtC>gtT	p.V3422V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3422						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGCCTTGGGGACTTTTAGGT	0.627000													13	260					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995514	38995514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:38995514G>T	ENST00000355481.4	+	51	8325	c.8194G>T	c.(8194-8196)Gaa>Taa	p.E2732*	RYR1_ENST00000359596.3_Nonsense_Mutation_p.E2732*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.E2732*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2732	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGTGGATGCTGAAGGCAACTT	0.597000													4	51					0.150653	0.152042	1	1	0
AKR1A1	10327	broad.mit.edu	37	1	46034277	46034277	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:46034277G>A	ENST00000372070.3	+	7	1420	c.673G>A	c.(673-675)Gag>Aag	p.E225K	AKR1A1_ENST00000351829.4_Missense_Mutation_p.E225K|AKR1A1_ENST00000473038.1_Intron	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	225					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TGATCCTGATGAGCCTGTCCT	0.547000													4	65					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160025779	160025779	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:160025779C>G	ENST00000327245.5	-	22	4408	c.3562G>C	c.(3562-3564)Gag>Cag	p.E1188Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1188					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTTACCTCAGAGTTCTGG	0.522000													5	333					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000301	16000301	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:16000301C>G	ENST00000221700.6	-	7	945	c.850G>C	c.(850-852)Gat>Cat	p.D284H	CYP4F2_ENST00000011989.7_Missense_Mutation_p.D135H	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGAAGTCATCAACACCCTGG	0.577000													4	83					0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74370812	74370812	+	Splice_Site	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:74370812C>T	ENST00000555044.1	+	6	924	c.730C>T	c.(730-732)Cga>Tga	p.R244*	RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000442160.3_Splice_Site_p.R261*|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000334521.4_Splice_Site_p.R191*|ZNF410_ENST00000324593.6_Splice_Site_p.R244*|ZNF410_ENST00000540593.1_Splice_Site_p.R171*	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CAAGACTCATCGGTGAGCAAA	0.438000													4	58					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408760	178408760	+	Silent	SNP	G	G	C	rs137914807		TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:178408760G>C	ENST00000231188.5	-	10	2710	c.2532C>G	c.(2530-2532)ctC>ctG	p.L844L	GRM6_ENST00000517717.1_Silent_p.L844L|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	844					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTGGATGGAAGAGGATGACGT	0.587000													11	95					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123304955	123304955	+	Splice_Site	SNP	T	T	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:123304955T>A	ENST00000296513.2	+	5	548	c.363T>A	c.(361-363)ggT>ggA	p.G121G	ADAD1_ENST00000388724.2_Splice_Site_p.G121G|ADAD1_ENST00000388725.2_Splice_Site_p.G103G|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	121	DRBM.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTTTCAAGGTAATGTTATGG	0.338000													12	61					0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87969914	87969914	+	Splice_Site	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:87969914C>T	ENST00000309893.2	-	1	208		c.e1+1		CA5A_ENST00000568801.1_Splice_Site	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial						one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GCTCTACTTACAAGTGTTATT	0.537000													6	128					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33592458	33592458	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:33592458C>G	ENST00000170564.2	+	9	1372	c.1058C>G	c.(1057-1059)tCt>tGt	p.S353C		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	353						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCCTTGGCTTCTAAACCTTTA	0.308000													3	53					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484991	150484991	+	Missense_Mutation	SNP	G	G	C	rs144325366		TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:150484991G>C	ENST00000369047.4	+	8	1372	c.1247G>C	c.(1246-1248)cGa>cCa	p.R416P	ECM1_ENST00000346569.6_Missense_Mutation_p.R291P|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.R443P	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	416					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GACATCGGTCGAGTCACCCCC	0.562000													6	52					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542628	133542628	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:133542628C>T	ENST00000409261.1	-	14	2129	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	NCKAP5_ENST00000317721.6_Missense_Mutation_p.E586K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	586							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAAACGTTTCATTGTCATCA	0.542000													7	47					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486758	94486758	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr9:94486758G>C	ENST00000375708.3	-	9	2216	c.2018C>G	c.(2017-2019)tCa>tGa	p.S673*	ROR2_ENST00000375715.1_Nonsense_Mutation_p.S533*|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	673	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAGATGTCTGAGTCGATGGA	0.592000													5	27					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27231898	27231898	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:27231898G>A	ENST00000286096.4	+	8	1271	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	KDM8_ENST00000441782.2_Silent_p.E404E|KDM8_ENST00000568965.1_Silent_p.E170E|KDM8_ENST00000380948.2_Silent_p.E170E|KDM8_ENST00000567785.1_3'UTR	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	366	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										TTGACGTGGAGAATCCCGACC	0.572000													5	161					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64665351	64665351	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:64665351G>A	ENST00000421419.2	-	35	5074	c.4960C>T	c.(4960-4962)Cac>Tac	p.H1654Y	ATG2A_ENST00000377264.3_Missense_Mutation_p.H1652Y			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1652							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GAGGGGCTGTGTCCACCTCCT	0.697000													3	44					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222838791	222838791	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:222838791G>C	ENST00000344922.5	+	28	5579	c.5554G>C	c.(5554-5556)Gag>Cag	p.E1852Q	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.E730Q|MIA3_ENST00000344441.6_Missense_Mutation_p.E1852Q	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1852	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)		TGGCCCAAGAGAGTACTTTAT	0.552000													10	235					0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46664425	46664425	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr22:46664425G>A	ENST00000381031.3	+	2	124	c.48G>A	c.(46-48)gcG>gcA	p.A16A	TTC38_ENST00000445282.2_Silent_p.A16A	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	16							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GGAAGGATGCGAGGCTCCCGC	0.607000													6	29					0	0	1	0	0
PSEN1	5663	broad.mit.edu	37	14	73640330	73640330	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:73640330C>G	ENST00000324501.5	+	5	667	c.395C>G	c.(394-396)tCa>tGa	p.S132*	PSEN1_ENST00000394157.3_Nonsense_Mutation_p.S132*|PSEN1_ENST00000357710.4_Nonsense_Mutation_p.S128*|PSEN1_ENST00000406768.1_Nonsense_Mutation_p.S40*|PSEN1_ENST00000557511.1_Nonsense_Mutation_p.S132*|PSEN1_ENST00000394164.1_Nonsense_Mutation_p.S128*|PSEN1_ENST00000261970.3_Nonsense_Mutation_p.S132*|PSEN1_ENST00000344094.3_Nonsense_Mutation_p.S132*	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	132					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		GCCCTGCACTCAATTCTGAAT	0.438000													5	105					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085335	5085335	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:5085335C>G	ENST00000399604.4	-	1	2357	c.2217G>C	c.(2215-2217)gaG>gaC	p.E739D	ZNF594_ENST00000575779.1_Missense_Mutation_p.E739D			Q96JF6	ZN594_HUMAN	zinc finger protein 594	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGAAGGTTTTCTCACATTCTT	0.438000													7	109					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69188522	69188522	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:69188522G>C	ENST00000344157.4	-	11	1881	c.1546C>G	c.(1546-1548)Cag>Gag	p.Q516E	YTHDC1_ENST00000355665.3_Missense_Mutation_p.Q498E|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Q516E	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	516	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GATCGGGGCTGAGAATGCATT	0.463000													4	56					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351246	10351246	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:10351246G>C	ENST00000255381.2	-	34	4964	c.4854C>G	c.(4852-4854)atC>atG	p.I1618M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1618					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						TCTTCTTCTTGATCCTCAGAG	0.463000													4	93					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120183000	120183000	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:120183000G>T	ENST00000328078.1	+	1	1539	c.1462G>T	c.(1462-1464)Gta>Tta	p.V488L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	488					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TATTCCCATTGTACCCACGGC	0.443000													5	52					0.00116845	0.00120703	1	1	0
TSPAN3	10099	broad.mit.edu	37	15	77348172	77348172	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:77348172C>G	ENST00000267970.4	-	3	562	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q	TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000424443.3_Missense_Mutation_p.E33Q|TSPAN3_ENST00000558394.1_Splice_Site|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000346495.2_Intron	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	97						integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		ACAACAACTTCTGTGACAAAA	0.303000													4	87					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3427493	3427493	+	Splice_Site	SNP	T	T	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:3427493T>C	ENST00000301365.4	-	13	1873	c.1742A>G	c.(1741-1743)aAg>aGg	p.K581R	TRPV3_ENST00000572519.1_Splice_Site_p.K581R|TRPV3_ENST00000576742.1_Splice_Site_p.K581R			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	581						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCAACGCACCTTCTGGATCAT	0.607000													16	111					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146038561	146038561	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr4:146038561G>C	ENST00000296577.4	+	10	1432	c.917G>C	c.(916-918)aGa>aCa	p.R306T	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	306	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TTTAGTGTAAGAGAAGGTAAC	0.338000													3	51					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155717705	155717705	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:155717705G>A	ENST00000452804.2	+	7	973	c.912G>A	c.(910-912)agG>agA	p.R304R				Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	0					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GAACTTGGAGGAGTAAACATT	0.483000													10	26					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560683	44560683	+	Silent	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:44560683G>T	ENST00000289547.4	-	13	3043	c.2988C>A	c.(2986-2988)atC>atA	p.I996I	NPC1L1_ENST00000546276.1_Silent_p.I950I|NPC1L1_ENST00000381160.3_Silent_p.I996I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	996					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCCCATCGTGATGCTCATGC	0.562000													4	121					0.00024832	0.00025958	1	1	0
TMEM106A	113277	broad.mit.edu	37	17	41367877	41367877	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:41367877C>A	ENST00000331615.3	+	5	583	c.346C>A	c.(346-348)Ccc>Acc	p.P116T	TMEM106A_ENST00000536052.1_Missense_Mutation_p.P116T|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.P68T|TMEM106A_ENST00000588659.1_Missense_Mutation_p.P116T	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	116						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		TTTCCTGTTTCCCCGGTCCGT	0.562000													5	251					0.000602214	0.000625047	1	1	0
KLRAP1	10748	broad.mit.edu	37	12	10750762	10750762	+	RNA	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:10750762G>C	ENST00000510134.2	-	0	194																				breast(1)|large_intestine(1)|lung(1)	3						TTCATCTTTAGAGTAAGAAGG	0.368000													3	63					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5086795	5086795	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:5086795C>G	ENST00000399604.4	-	1	897	c.757G>C	c.(757-759)Gat>Cat	p.D253H	ZNF594_ENST00000575779.1_Missense_Mutation_p.D253H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D253H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATAATAAGATCTGTGCTTTGA	0.418000													6	83					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336512	30336512	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:30336512C>T	ENST00000375377.1	-	2	331	c.230G>A	c.(229-231)aGa>aAa	p.R77K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	77										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCGTGGCCTCTCGGTGTGCT	0.607000													4	57					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73151574	73151574	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:73151574C>T	ENST00000222800.3	-	4	679	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	ABHD11_ENST00000395147.4_Intron|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000437775.2_Missense_Mutation_p.E197K	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	204							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCTGTTCATCCGCCAGT	0.582000													5	71					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28935012	28935012	+	Silent	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr18:28935012G>C	ENST00000257192.4	+	15	3065	c.2853G>C	c.(2851-2853)gtG>gtC	p.V951V	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Silent_p.V310V	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	951					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGTCATTGTGACAGAGAGGG	0.522000													4	177					0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129760673	129760673	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:129760673G>A	ENST00000335420.5	+	4	694	c.560G>A	c.(559-561)tGt>tAt	p.C187Y		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	187										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GTCCATGTGTGTAATGTGAAG	0.483000													16	108					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430086	29430086	+	Silent	SNP	A	A	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:29430086A>G	ENST00000377136.1	+	4	1005	c.540A>G	c.(538-540)ccA>ccG	p.P180P	OR2H1_ENST00000377132.1_Silent_p.P180P|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Silent_p.P180P|OR2H1_ENST00000396792.2_Silent_p.P180P|OR2H1_ENST00000442615.1_Silent_p.P180P			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGAGGTCCCATCTCTGATTC	0.502000													10	180					0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120082120	120082120	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:120082120G>A	ENST00000328965.4	+	1	646	c.133G>A	c.(133-135)Gag>Aag	p.E45K	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	45										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCAGGTGACCGAGGAGAGCCT	0.721000													3	11					0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35259396	35259396	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:35259396C>T	ENST00000373953.3	+	9	1079	c.813C>T	c.(811-813)atC>atT	p.I271I	ZNF76_ENST00000339411.5_Silent_p.I271I|ZNF76_ENST00000440666.2_Silent_p.I245I	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	271					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CATCTAACATCCGCAAGGTAC	0.602000													5	63					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564373	139564373	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:139564373C>G	ENST00000358430.3	-	10	1577	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	449						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTCTCTCTTCTTGTAAAGCA	0.433000													3	85					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16459784	16459784	+	Silent	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:16459784C>A	ENST00000358432.5	-	11	2098	c.1944G>T	c.(1942-1944)ctG>ctT	p.L648L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	648	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)	AGCCGGCTTTCAGCGTCTTGA	0.607000													4	73					0.150653	0.152042	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106523485	106523485	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:106523485C>T	ENST00000359195.3	+	8	2947	c.2637C>T	c.(2635-2637)atC>atT	p.I879I	PIK3CG_ENST00000440650.2_Silent_p.I879I|PIK3CG_ENST00000496166.1_Silent_p.I879I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	879	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TAGGAATGATCGAGATTGTGA	0.493000													8	269					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106125647	106125647	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:106125647C>G	ENST00000369704.3	+	5	807	c.673C>G	c.(673-675)Ctc>Gtc	p.L225V	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	225										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGAGAAAGAGCTCAAGCAGAT	0.498000													4	35					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155724205	155724205	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:155724205C>G	ENST00000437809.1	-	28	5714	c.5592G>C	c.(5590-5592)aaG>aaC	p.K1864N	GON4L_ENST00000271883.5_Missense_Mutation_p.K1864N|GON4L_ENST00000368331.1_Missense_Mutation_p.K1864N	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1864					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)					TTTTGCTCTTCTTCAGCTTGG	0.537000													24	76					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159842861	159842861	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:159842861C>T	ENST00000426543.2	-	11	1650	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.E484K			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	484						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGCTGGTTCTCGCGCACCTGG	0.602000													6	66					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72942798	72942798	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:72942798G>C	ENST00000328801.4	+	6	848	c.848G>C	c.(847-849)tGt>tCt	p.C283S		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	283						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCCACCGCGTGTGAAGCTTTC	0.572000													6	156					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41388032	41388032	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:41388032C>G	ENST00000301146.4	-	1	625	c.84G>C	c.(82-84)aaG>aaC	p.K28N	CYP2A7_ENST00000291764.3_Missense_Mutation_p.K28N|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	28						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCCCCTGCTCTTCCTCTGCT	0.572000													14	53					0	0	1	0	0
CD72	971	broad.mit.edu	37	9	35612927	35612927	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr9:35612927G>C	ENST00000396757.1	-	7	916	c.752C>G	c.(751-753)tCa>tGa	p.S251*	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Nonsense_Mutation_p.S251*			P21854	CD72_HUMAN	CD72 molecule	251	C-type lectin.				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAATTTTTTGAAGTAAGTGA	0.413000													6	132					0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033564	26033564	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:26033564C>T	ENST00000259791.2	-	1	232	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	78					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CGGGATGATGCGGGTCTTCTT	0.627000													4	142					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272151	52272151	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:52272151C>A	ENST00000598776.1	+	2	1012	c.240C>A	c.(238-240)ttC>ttA	p.F80L	FPR2_ENST00000598953.1_Missense_Mutation_p.F80L|FPR2_ENST00000340023.6_Missense_Mutation_p.F80L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	80					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CATTACCATTCCTCATTGTCT	0.498000													5	100					1	1	1	1	0
NOC3L	64318	broad.mit.edu	37	10	96117853	96117853	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr10:96117853C>G	ENST00000371361.3	-	3	437	c.337G>C	c.(337-339)Gat>Cat	p.D113H	NOC3L_ENST00000371350.1_Missense_Mutation_p.D113H|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	113						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GAAGAAAGATCTCTTGTTAGA	0.333000													24	111					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005485	30005485	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:30005485C>T	ENST00000279392.3	-	4	1811	c.981G>A	c.(979-981)aaG>aaA	p.K327K	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	327					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CACTCAACCTCTTCCCACCCT	0.577000													4	96					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	986835	986835	+	Silent	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:986835G>C	ENST00000544583.2	-	5	1025	c.426C>G	c.(424-426)gtC>gtG	p.V142V	ABR_ENST00000574437.1_Silent_p.V142V|ABR_ENST00000302538.5_Silent_p.V188V|ABR_ENST00000291107.2_Silent_p.V151V	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	188	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TATAGTTATCGACAAACGCTT	0.547000													29	46					0	0	1	0	0
SFTPC	6440	broad.mit.edu	37	8	22020094	22020094	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr8:22020094C>T	ENST00000521315.1	+	2	82	c.50C>T	c.(49-51)tCc>tTc	p.S17F	SFTPC_ENST00000522109.1_Missense_Mutation_p.S17F|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_Missense_Mutation_p.S17F|SFTPC_ENST00000437090.2_Missense_Mutation_p.S17F|SFTPC_ENST00000520605.1_Intron			P11686	PSPC_HUMAN	surfactant protein C	17					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAGGACTACTCCGCAGCTCCC	0.607000													19	37					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005577	30005577	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:30005577C>G	ENST00000279392.3	-	4	1719	c.889G>C	c.(889-891)Gag>Cag	p.E297Q	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	297					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTGGCTGCCTCTTTCTGCTCT	0.562000													6	159					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155149754	155149754	+	Silent	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:155149754G>A	ENST00000392451.2	+	5	980	c.897G>A	c.(895-897)gtG>gtA	p.V299V	TRIM46_ENST00000543729.1_Silent_p.V306V|TRIM46_ENST00000368382.1_Silent_p.V276V|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Silent_p.V173V|TRIM46_ENST00000368383.3_Silent_p.V299V|TRIM46_ENST00000368385.4_Silent_p.V299V|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000334634.4_Silent_p.V299V			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	299						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)			AGGAGGCCGTGAGGCACACCG	0.602000													9	61					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672550	44672550	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr20:44672550G>T	ENST00000243964.3	+	11	1470	c.1372G>T	c.(1372-1374)Gag>Tag	p.E458*	SLC12A5_ENST00000454036.2_Nonsense_Mutation_p.E481*	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	481					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCCTGCATTGAGGGGGTCGT	0.562000													6	128					0.0293803	0.0298575	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21583189	21583189	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:21583189C>T	ENST00000328843.6	+	1	357	c.326C>T	c.(325-327)tCg>tTg	p.S109L	DNAH11_ENST00000409508.3_Missense_Mutation_p.S109L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	109	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						TTCGCCGCCTCGGGGCGCCTT	0.602000									Kartagener syndrome				3	12					0	0	1	0	0
TSPAN33	340348	broad.mit.edu	37	7	128802278	128802278	+	Silent	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr7:128802278G>T	ENST00000289407.4	+	3	313	c.204G>T	c.(202-204)ctG>ctT	p.L68L		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	68						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CCATCCTGCTGATCGTGGTGG	0.627000													3	26					0.004672	0.00480361	1	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51630505	51630505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:51630505C>T	ENST00000440804.3	+	4	1034	c.967C>T	c.(967-969)Cag>Tag	p.Q323*	SIGLEC9_ENST00000250360.3_Nonsense_Mutation_p.Q323*	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	323	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTGCAGAGCTCAGAACCCTCT	0.622000													5	23					0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43483773	43483773	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:43483773C>G	ENST00000372422.2	-	2	324	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	YIPF3_ENST00000506469.1_Missense_Mutation_p.E54Q	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	48					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCCATATCCTCGAAGCTAGAG	0.547000													4	45					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4723507	4723507	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:4723507C>A	ENST00000399577.5	+	10	897	c.804C>A	c.(802-804)gaC>gaA	p.D268E	MGRN1_ENST00000586183.1_Missense_Mutation_p.D268E|MGRN1_ENST00000415496.1_Missense_Mutation_p.D269E|MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000262370.7_Missense_Mutation_p.D268E|MGRN1_ENST00000588994.1_Missense_Mutation_p.D268E	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	268					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGCCCTCGGACGACGAGAACA	0.652000													6	208					0.000157383	0.000165706	1	1	0
CENPP	401541	broad.mit.edu	37	9	95375412	95375412	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr9:95375412G>C	ENST00000375587.3	+	8	1363	c.848G>C	c.(847-849)tGt>tCt	p.C283S	CENPP_ENST00000375576.1_Missense_Mutation_p.C97S|CENPP_ENST00000375579.3_Missense_Mutation_p.C110S	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	283					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						AAATCGCTTTGTGCAGAGGAG	0.438000													9	109					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7065381	7065381	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:7065381C>G	ENST00000456013.1	+	8	1163	c.921C>G	c.(919-921)atC>atG	p.I307M	PTPN6_ENST00000318974.9_Missense_Mutation_p.I307M|PTPN6_ENST00000399448.1_Missense_Mutation_p.I309M|PTPN6_ENST00000447931.2_Missense_Mutation_p.I268M	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	307	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCAACTACATCAAGGTCAGCA	0.622000													3	28					0	0	1	0	0
ROM1	6094	broad.mit.edu	37	11	62381781	62381781	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:62381781C>G	ENST00000278833.3	+	2	1183	c.642C>G	c.(640-642)ttC>ttG	p.F214L	ROM1_ENST00000534093.1_Missense_Mutation_p.S5C	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	214					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GGGTCCCTTTCTCCTGTTGCA	0.577000													5	206					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064218	9064218	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:9064218G>T	ENST00000397910.4	-	3	23431	c.23228C>A	c.(23227-23229)tCt>tAt	p.S7743Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7745	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						CAAACTTGAAGATGAACTGGT	0.522000													5	103					0.014758	0.0150676	1	1	0
CIZ1	25792	broad.mit.edu	37	9	130931378	130931378	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr9:130931378C>G	ENST00000538431.1	-	15	2573	c.2326G>C	c.(2326-2328)Gat>Cat	p.D776H	CIZ1_ENST00000372938.5_Missense_Mutation_p.D750H|CIZ1_ENST00000393608.1_Missense_Mutation_p.D750H|CIZ1_ENST00000372948.3_Missense_Mutation_p.D694H|CIZ1_ENST00000325721.8_Missense_Mutation_p.D721H|CIZ1_ENST00000372954.1_Missense_Mutation_p.D670H|CIZ1_ENST00000541172.1_Missense_Mutation_p.D649H|CIZ1_ENST00000277465.4_Missense_Mutation_p.D722H|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000357558.5_Missense_Mutation_p.D722H	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	750						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tcatcctcatcatcctcttcc	0.552000													4	128					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137387	32137387	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:32137387G>C	ENST00000312561.4	+	4	3912	c.3498G>C	c.(3496-3498)gaG>gaC	p.E1166D	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		TGGACTCTGAGAAAGATGATA	0.488000													3	97					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000269305.4_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(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)		GGCAACTGACCGTGCAAGTCA	0.537000		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)			23	13					4.47668e-21	4.90196e-21	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78492690	78492690	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr13:78492690G>T	ENST00000377211.4	-	2	441	c.289C>A	c.(289-291)Ctg>Atg	p.L97M	EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000446573.1_Missense_Mutation_p.L7M|EDNRB_ENST00000334286.5_Missense_Mutation_p.L7M	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	7					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			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)	CGTCCGCACAGACTTGGAGGC	0.642000											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	32					0.0293803	0.0298575	1	1	0
MDC1	9656	broad.mit.edu	37	6	30671982	30671982	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:30671982G>C	ENST00000376406.3	-	10	5625	c.4978C>G	c.(4978-4980)Ctt>Gtt	p.L1660V	MDC1_ENST00000376405.2_Missense_Mutation_p.L1396V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1660					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AAAGGCTCAAGATCAGAGGCT	0.542000								Other conserved DNA damage response genes					4	95					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277211	95277211	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr9:95277211C>G	ENST00000344604.5	-	4	905	c.756G>C	c.(754-756)caG>caC	p.Q252H	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.Q230H	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	252					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CTCCAGGCCTCTGCTTTCTGT	0.552000													12	228					0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19277864	19277864	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr8:19277864C>G	ENST00000454498.2	-	7	2132	c.1119G>C	c.(1117-1119)ctG>ctC	p.L373L	CSGALNACT1_ENST00000522854.1_Silent_p.L373L|CSGALNACT1_ENST00000544602.1_Silent_p.L373L|CSGALNACT1_ENST00000311540.4_Silent_p.L373L|CSGALNACT1_ENST00000332246.6_Silent_p.L373L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	373					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GCTGTGTATTCAGCCTACACG	0.517000													18	33					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47663416	47663416	+	Silent	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr21:47663416C>G	ENST00000397708.1	-	25	5513	c.5259G>C	c.(5257-5259)ctG>ctC	p.L1753L	MCM3AP_ENST00000291688.1_Silent_p.L1753L|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1753					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCAGTCTCTCAGCTTGTGGT	0.552000													4	91					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65874383	65874383	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr1:65874383C>G	ENST00000395325.3	+	17	2537	c.2380C>G	c.(2380-2382)Cac>Gac	p.H794D	DNAJC6_ENST00000263441.7_Missense_Mutation_p.H781D|DNAJC6_ENST00000371069.4_Missense_Mutation_p.H851D	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	794					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTTCAATGCTCACAAAGACAA	0.403000													8	51					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43912907	43912907	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr21:43912907G>C	ENST00000291536.3	-	3	402	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	RSPH1_ENST00000398352.3_Missense_Mutation_p.Q41E	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	79					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						AAAGTGCCTTGACCGTGCTTT	0.318000													6	99					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108068029	108068029	+	Silent	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:108068029C>T	ENST00000369022.2	-	3	386	c.177G>A	c.(175-177)caG>caA	p.Q59Q	SCML4_ENST00000369021.3_Silent_p.Q88Q|SCML4_ENST00000369020.3_Silent_p.Q117Q			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q117H(1)|p.Q88H(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCTCCGGGAGCTGCTGCACCT	0.632000													10	66					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71705855	71705855	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:71705855G>A	ENST00000361756.3	+	7	1079	c.718G>A	c.(718-720)Gag>Aag	p.E240K	RNF121_ENST00000530137.1_Missense_Mutation_p.E208K|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000545854.1_Missense_Mutation_p.E159K|RNF121_ENST00000533380.1_Missense_Mutation_p.E80K	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	240						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						CGTCAGTGAAGAGGGGATCAT	0.517000													6	178					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22637656	22637656	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:22637656C>T	ENST00000333957.4	-	13	1780	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R	C2CD5_ENST00000396028.2_Missense_Mutation_p.G500R|C2CD5_ENST00000446597.1_Missense_Mutation_p.G509R|C2CD5_ENST00000542676.1_Missense_Mutation_p.G509R|C2CD5_ENST00000544930.1_Missense_Mutation_p.G324R|C2CD5_ENST00000545552.1_Missense_Mutation_p.G522R|C2CD5_ENST00000536386.1_Missense_Mutation_p.G511R	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		CAACCTTTTCCAATAACTGTT	0.378000													4	72					0	0	1	0	0
CCDC174	51244	broad.mit.edu	37	3	14709665	14709665	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:14709665G>C	ENST00000383794.3	+	9	1002	c.929G>C	c.(928-930)gGt>gCt	p.G310A	CCDC174_ENST00000303688.7_Intron|CCDC174_ENST00000476763.1_3'UTR	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		TCAAAAGAAGGTGGAACAGAA	0.358000													44	90					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52824786	52824786	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:52824786G>C	ENST00000273283.2	+	20	2367	c.2343G>C	c.(2341-2343)aaG>aaC	p.K781N	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000405128.3_Missense_Mutation_p.K147N|ITIH1_ENST00000537050.1_Missense_Mutation_p.K493N|ITIH1_ENST00000540715.1_Missense_Mutation_p.K639N	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	781	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCATCAACAAGAAGAGGAACC	0.607000													7	121					0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50498452	50498452	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:50498452G>A	ENST00000301149.3	+	2	369	c.137G>A	c.(136-138)gGa>gAa	p.G46E	GPD1_ENST00000548814.1_Missense_Mutation_p.G46E|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	46					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GAAGACATTGGAGGCAAAAAG	0.552000													7	82					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64051853	64051853	+	Silent	SNP	G	G	A	rs75052600	by1000genomes	TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:64051853G>A	ENST00000411458.1	+	1	43	c.15G>A	c.(13-15)gtG>gtA	p.V5V	BAD_ENST00000394532.3_5'UTR|BAD_ENST00000394531.3_Intron|BAD_ENST00000309032.3_Intron	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	0						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TCTGGGCTGTGAGGACAAGAT	0.647000													4	94					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3649638	3649638	+	Missense_Mutation	SNP	A	A	C	rs17548837		TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr20:3649638A>C	ENST00000356518.2	-	22	2655	c.2414T>G	c.(2413-2415)gTc>gGc	p.V805G	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.V804G|ADAM33_ENST00000350009.2_Missense_Mutation_p.V779G	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	805					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGCATCTGGACTTGATCTGC	0.532000													8	145					0	0	1	0	0
RTBDN	83546	broad.mit.edu	37	19	12945619	12945619	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:12945619C>G	ENST00000589272.1	-	2	387	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	MAST1_ENST00000591495.1_Intron|RTBDN_ENST00000393233.2_5'UTR|RTBDN_ENST00000322912.5_Missense_Mutation_p.E20Q			Q9BSG5	RTBDN_HUMAN	retbindin	0						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GGGAGGGATTCTGTAGCCGAG	0.582000													20	62					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76412689	76412689	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:76412689G>C	ENST00000370014.3	+	19	3236	c.2617G>C	c.(2617-2619)Gaa>Caa	p.E873Q	SENP6_ENST00000447266.2_Missense_Mutation_p.E873Q|SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Missense_Mutation_p.E866Q	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	873	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TGAAAATGAAGAATTCAATAA	0.368000													6	124					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32477713	32477713	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:32477713G>C	ENST00000404025.2	-	4	525	c.37C>G	c.(37-39)Caa>Gaa	p.Q13E	NLRC4_ENST00000342905.6_Missense_Mutation_p.Q13E|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q13E|NLRC4_ENST00000402280.1_Missense_Mutation_p.Q13E			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	13	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCCATTCTTTGAATAAGGGCT	0.373000													4	98					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072851	98072851	+	Missense_Mutation	SNP	G	G	C	rs139874815	byFrequency	TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr3:98072851G>C	ENST00000354924.2	+	1	154	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AATTTATGTAGAGCGTCGTCT	0.463000													6	289					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220356867	220356867	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:220356867C>A	ENST00000312358.7	+	40	9628	c.9496C>A	c.(9496-9498)Ccc>Acc	p.P3166T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3166	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGAGCCAGACCCCCAGGAAAC	0.582000													7	32					5.18039e-06	5.52071e-06	1	1	0
ZNF812	729648	broad.mit.edu	37	19	9801179	9801179	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:9801179G>C	ENST00000457674.2	-	5	1518	c.1000C>G	c.(1000-1002)Cag>Gag	p.Q334E	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCCTTACACTGATAGTGTTTC	0.423000													4	159					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963600	73963600	+	Silent	SNP	A	A	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:73963600A>G	ENST00000055682.6	-	3	1403	c.792T>C	c.(790-792)ttT>ttC	p.F264F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTCACTAATAAAAGTCTCGA	0.378000													42	21					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120182900	120182900	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:120182900G>C	ENST00000328078.1	+	1	1439	c.1362G>C	c.(1360-1362)ttG>ttC	p.L454F		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	454					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATGGCCGTTTGACCTTCAAAT	0.393000													4	82					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291505	62291505	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:62291505C>G	ENST00000378024.4	-	5	10658	c.10384G>C	c.(10384-10386)Gat>Cat	p.D3462H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3462					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)				ACATCCACATCAGGTGCATTA	0.433000													25	120					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134814833	134814833	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr9:134814833C>T	ENST00000292035.5	-	4	571	c.508G>A	c.(508-510)Gac>Aac	p.D170N	MED27_ENST00000357028.2_Missense_Mutation_p.D170N	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	170					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AACATCCTGTCAATGCGGCTG	0.388000													4	53					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113416518	113416518	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:113416518C>G	ENST00000392583.2	+	1	312	c.105C>G	c.(103-105)gaC>gaG	p.D35E	OAS2_ENST00000449768.2_Missense_Mutation_p.D35E|OAS2_ENST00000342315.4_Missense_Mutation_p.D35E|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	35	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CACTGATCGACGAGATGGTGA	0.562000													12	23					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68222769	68222769	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr14:68222769C>A	ENST00000347230.4	-	36	6820	c.6682G>T	c.(6682-6684)Gat>Tat	p.D2228Y	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.D74Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2228					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAGGTTGGATCAATGGATTCT	0.433000													13	326					2.27111e-07	2.45011e-07	1	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38573136	38573136	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr19:38573136G>A	ENST00000222345.6	+	3	1440	c.931G>A	c.(931-933)Gag>Aag	p.E311K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	311					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCAAACCCGAGGGGGAGGC	0.687000													3	15					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29406081	29406081	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:29406081C>G	ENST00000558402.1	+	15	2639	c.2040C>G	c.(2038-2040)atC>atG	p.I680M	APBA2_ENST00000558330.1_Missense_Mutation_p.I668M|APBA2_ENST00000561069.1_Missense_Mutation_p.I680M|APBA2_ENST00000558259.1_Missense_Mutation_p.I680M|APBA2_ENST00000411764.1_Missense_Mutation_p.I668M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	680	PDZ 2.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTGCTTAGATCTGCAGCCTCA	0.642000													8	34					0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110636672	110636672	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr6:110636672G>C	ENST00000338882.4	-	3	429	c.430C>G	c.(430-432)Cac>Gac	p.H144D		NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	144						extracellular region											GTATTCATGTGATTGCATGCA	0.408000													3	67					0	0	1	0	0
BCL2L14	79370	broad.mit.edu	37	12	12240312	12240312	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:12240312C>G	ENST00000266434.4	+	3	794	c.599C>G	c.(598-600)tCt>tGt	p.S200C	BCL2L14_ENST00000308721.5_Missense_Mutation_p.S200C|BCL2L14_ENST00000586576.1_Missense_Mutation_p.S233C|BCL2L14_ENST00000589718.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000396367.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000396369.1_Missense_Mutation_p.S200C	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	200					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GCTTCAAGTTCTAAGAAAGGT	0.532000													12	39					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chrX:123197011C>T	ENST00000371160.1	+	19	2067	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	593					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAGTTGCCTCAGTACTTTGA	0.279000													8	11					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2229567	2229567	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:2229567G>T	ENST00000399655.1	+	3	713	c.448G>T	c.(448-450)Gat>Tat	p.D150Y	CACNA1C_ENST00000399649.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D150Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D150Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D150Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D150Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D150Y	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	150					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)	CTTTCCAGAAGATGATTCCAA	0.413000													5	106					0.27861	0.279888	1	1	0
B3GNT2	10678	broad.mit.edu	37	2	62449634	62449634	+	Silent	SNP	G	G	C			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr2:62449634G>C	ENST00000301998.4	+	2	531	c.279G>C	c.(277-279)ctG>ctC	p.L93L	B3GNT2_ENST00000405767.1_Silent_p.L93L	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	93						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TAAGCCATCTGAACTACTGCG	0.532000													7	334					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130069861	130069861	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:130069861C>G	ENST00000278742.5	+	16	2241	c.1823C>G	c.(1822-1824)tCa>tGa	p.S608*		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	608					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGGCTGCGGTCATTCACGAGA	0.612000													3	48					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31926591	31926591	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr16:31926591C>G	ENST00000300870.10	+	4	1230	c.1021C>G	c.(1021-1023)Cag>Gag	p.Q341E		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	341					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TACTCAACATCAGATCATTCC	0.353000													14	65					0	0	1	0	0
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													4	3	---	---	---	---					
GLE1	2733	broad.mit.edu	37	9	131296203	131296204	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr9:131296203_131296204insG	ENST00000309971.4	+	11	1725_1726	c.1619_1620insG	c.(1618-1623)gagggafs	p.EG540fs	RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Frame_Shift_Ins_p.EG286fs|GLE1_ENST00000372770.4_Frame_Shift_Ins_p.EG540fs	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	540					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						ACTTTCAAGGAGGGAATGGCTT	0.421													14	101	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19256036	19256036	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr11:19256036delT	ENST00000527884.1	-	6	1031	c.799delA	c.(799-801)aggfs	p.R267fs	E2F8_ENST00000250024.4_Frame_Shift_Del_p.R267fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	267					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCATTACCCTTAAAGACTTG	0.393													46	53	---	---	---	---					
FAM71C	196472	broad.mit.edu	37	12	100042268	100042268	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr12:100042268delA	ENST00000324341.1	+	1	738	c.316delA	c.(316-318)aaafs	p.K106fs	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	106										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TGCCACCCAGAAAAGAGAAAG	0.522													8	100	---	---	---	---					
LOC645752	645752	broad.mit.edu	37	15	78217569	78217569	+	RNA	DEL	A	A	-			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr15:78217569delA	ENST00000567226.1	-	0	105																											TATTATGGCTAAAAAAAAAGT	0.428													2	4	---	---	---	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	213						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)			CTGGTCTGCATGCTGCTGCTGCT	0.675													7	107	---	---	---	---					
DIDO1	11083	broad.mit.edu	37	20	61525505	61525506	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-AA3D-01A-11D-A391-08	TCGA-G2-AA3D-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669b1715-5dd7-46bc-9fb9-b09dc4a1896a	8f43bf3f-1f85-4dfc-8f84-46f661e5ccbc	g.chr20:61525505_61525506insT	ENST00000266070.4	-	12	2938_2939	c.2613_2614insA	c.(2611-2616)aaacaafs	p.Q872fs	DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.Q872fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.Q872fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.Q872fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	872					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GACAATTTTTGTTTTTTCGGAG	0.505													21	202	---	---	---	---