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
HIVEP2	3097	broad.mit.edu	37	6	143081724	143081724	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:143081724C>T	ENST00000367603.2	-	9	6443	c.5701G>A	c.(5701-5703)Gag>Aag	p.E1901K	HIVEP2_ENST00000367604.1_Missense_Mutation_p.E1901K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E1901K	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1901	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		tcTGATTCCTCAGCATCGGAG	0.388000													14	44					0	0	1	0	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020795	33020795	+	RNA	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr16:33020795C>T	ENST00000565407.2	+	0	203				RP11-19N8.2_ENST00000567619.1_RNA																							GAGTGGGTTTCATACATTAGT	0.532000													119	269					0	0	1	0	0
CLDN8	9073	broad.mit.edu	37	21	31588054	31588054	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr21:31588054A>G	ENST00000399899.1	-	1	337	c.190T>C	c.(190-192)Tgc>Cgc	p.C64R	CLDN8_ENST00000286809.1_Missense_Mutation_p.C64R	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	64					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						TAGATTTTGCACTGCATCCTG	0.488000													19	83					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108205823	108205823	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:108205823G>A	ENST00000278616.4	+	55	8523	c.8138G>A	c.(8137-8139)aGa>aAa	p.R2713K	ATM_ENST00000452508.2_Missense_Mutation_p.R2713K|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2713	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R2713K(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGGAGAGGAGACAGCTTGTT	0.378000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			37	28					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119923722	119923722	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:119923722G>C	ENST00000361035.4	+	3	336	c.53G>C	c.(52-54)tGt>tCt	p.C18S	HAO2_ENST00000325945.3_Missense_Mutation_p.C5S			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	5	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TCCTTGGTGTGTTTGACAGAC	0.483000													38	168					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27190538	27190538	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:27190538C>A	ENST00000380036.4	+	10	1781	c.1339C>A	c.(1339-1341)Ccc>Acc	p.P447T	TEK_ENST00000519097.1_Missense_Mutation_p.P300T|TEK_ENST00000406359.4_Missense_Mutation_p.P404T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	447	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTTCCAAAGCCCCTGAATGC	0.413000													48	149					4.78724e-31	5.68895e-31	1	1	0
KRT5	3852	broad.mit.edu	37	12	52910921	52910921	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:52910921C>T	ENST00000252242.4	-	6	1578	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	396	Coil 2.|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)		TCTCGGCTCTCAGCCTCTGGA	0.493000													28	89					0	0	1	0	0
STX7	8417	broad.mit.edu	37	6	132789599	132789599	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:132789599T>C	ENST00000367941.2	-	8	666	c.553A>G	c.(553-555)Att>Gtt	p.I185V	STX7_ENST00000367937.4_Missense_Mutation_p.I185V	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	185	t-SNARE coiled-coil homology.				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ATTTCATTAATATCCATAATA	0.323000													9	58					0	0	1	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102038121	102038121	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr7:102038121C>G	ENST00000496391.1	+	6	1491	c.181C>G	c.(181-183)Cca>Gca	p.P61A	PRKRIP1_ENST00000397912.3_Missense_Mutation_p.P61A|PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.P23A|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	61	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						TCGACCTCCCCCAGAATTTGT	0.423000													34	22					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606795	55606795	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:55606795T>C	ENST00000378396.1	+	1	568	c.568T>C	c.(568-570)Tct>Cct	p.S190P		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GATATCACTCTCTTACCCTGA	0.393000													28	94					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152330002	152330002	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:152330002T>A	ENST00000388718.5	-	3	332	c.260A>T	c.(259-261)aAg>aTg	p.K87M	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	87							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)			GCTGAGGACCTTGTTGCAGGC	0.438000													12	83					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7154882	7154882	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:7154882A>G	ENST00000320892.6	+	5	722	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	94						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GCAAAGATATAAAAAGCTACA	0.368000													16	51					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18171689	18171689	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:18171689G>T	ENST00000388870.2	+	7	754	c.513G>T	c.(511-513)atG>atT	p.M171I	KDM1B_ENST00000397244.1_Missense_Mutation_p.M171I|KDM1B_ENST00000297792.5_Missense_Mutation_p.M171I|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	171					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GATGCGGTATGAAACCAAATA	0.353000													8	96					1.12685e-05	1.18132e-05	1	1	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478000													7	19					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5832467	5832467	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:5832467G>C	ENST00000318336.4	-	3	1306	c.112C>G	c.(112-114)Caa>Gaa	p.Q38E	FUT6_ENST00000527106.1_Missense_Mutation_p.Q38E|FUT6_ENST00000286955.5_Missense_Mutation_p.Q38E|FUT6_ENST00000592563.1_Missense_Mutation_p.Q38E|FUT6_ENST00000524754.1_Missense_Mutation_p.Q38E	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	38					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						GGATCGTCTTGAGACACACGC	0.612000													6	14					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	555093	555093	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:555093C>T	ENST00000329451.3	-	14	1854	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	598										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCTACGGTCCACGCTCTTC	0.751000													10	15					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338675	5338675	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr7:5338675C>T	ENST00000396872.3	+	8	1100	c.939C>T	c.(937-939)caC>caT	p.H313H	SLC29A4_ENST00000406453.3_Silent_p.H299H|SLC29A4_ENST00000297195.4_Silent_p.H313H			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.H313H(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCCAGCCCACGAGGTGACCG	0.692000													4	35					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	488986	488986	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:488986C>A	ENST00000230449.4	-	27	2809	c.2674G>T	c.(2674-2676)Gat>Tat	p.D892Y	EXOC2_ENST00000448181.3_Missense_Mutation_p.D487Y	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	892					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TACTTTTTATCTGCTCCACTG	0.423000													138	71					9.55336e-64	1.13918e-63	1	1	0
ESAM	90952	broad.mit.edu	37	11	124623702	124623702	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:124623702G>C	ENST00000278927.5	-	7	1142	c.1013C>G	c.(1012-1014)tCc>tGc	p.S338C	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	338					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGCCTGGCTGGAGAGACTGGG	0.647000													24	8					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048487	90048487	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:90048487T>A	ENST00000330947.2	+	5	638	c.278T>A	c.(277-279)aTt>aAt	p.I93N	LRRC8B_ENST00000439853.1_Missense_Mutation_p.I93N|LRRC8B_ENST00000358200.4_Missense_Mutation_p.I93N	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	93						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CCCCTCCGAATTCAGAATGAC	0.507000													16	91					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143614663	143614663	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr8:143614663C>T	ENST00000517894.1	+	25	4300	c.3406C>T	c.(3406-3408)Ctg>Ttg	p.L1136L	BAI1_ENST00000323289.5_Silent_p.L1136L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1136					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGGGCCTCCCTGTGGAGCTC	0.716000													5	0					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35512649	35512649	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:35512649G>A	ENST00000353139.5	-	43	5884	c.5403C>T	c.(5401-5403)ctC>ctT	p.L1801L	ACACA_ENST00000394406.2_Silent_p.L1764L|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000335166.5_Silent_p.L1686L|ACACA_ENST00000360679.3_Silent_p.L1706L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1764	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L1801L(1)|p.L1706L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGACAGAGTTGAGAGCACTGA	0.358000													63	116					0	0	1	0	0
ATAD1	84896	broad.mit.edu	37	10	89544297	89544297	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:89544297C>T	ENST00000308448.7	-	5	891	c.513G>A	c.(511-513)caG>caA	p.Q171Q	ATAD1_ENST00000328142.3_Silent_p.Q171Q|ATAD1_ENST00000541004.1_Silent_p.Q171Q|ATAD1_ENST00000400215.3_Silent_p.Q113Q	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	171						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CAGCCAATTTCTGAGATTCTC	0.408000													74	61					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5138757	5138757	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:5138757C>G	ENST00000380554.3	+	2	892	c.240C>G	c.(238-240)ttC>ttG	p.F80L	AKR1C3_ENST00000605149.1_Missense_Mutation_p.F57L|AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000439082.2_5'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	80					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	AAGACATATTCTACACTTCAA	0.413000													44	71					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155226076	155226076	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:155226076G>A	ENST00000355379.3	-	8	1232	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SCAMP3_ENST00000302631.3_Silent_p.F344F|SCAMP3_ENST00000472397.1_5'UTR	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	344					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACGGGGCCCGGAAGGCATTTT	0.607000													36	96					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37118246	37118246	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:37118246C>T	ENST00000435416.1	+	3	2939	c.1444C>T	c.(1444-1446)Cac>Tac	p.H482Y	ZNF382_ENST00000423582.1_Missense_Mutation_p.H434Y|ZNF382_ENST00000292928.2_Missense_Mutation_p.H483Y|ZNF382_ENST00000439428.1_Missense_Mutation_p.H482Y			Q96SR6	ZN382_HUMAN	zinc finger protein 382	483	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CACTGTTCATCACAGAATACA	0.458000													25	38					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418771	105418771	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:105418771G>A	ENST00000333244.5	-	7	3136	c.3017C>T	c.(3016-3018)cCg>cTg	p.P1006L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1006						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)			CCCGAACGACGGCATCTTGAA	0.612000													135	269					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237711775	237711775	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:237711775G>C	ENST00000366574.2	+	26	3268	c.2951G>C	c.(2950-2952)aGc>aCc	p.S984T	RYR2_ENST00000542537.1_Missense_Mutation_p.S968T|RYR2_ENST00000360064.6_Missense_Mutation_p.S982T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	984	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGGACCTGAGCTTTATCAAA	0.453000													3	35					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056868	120056868	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:120056868A>T	ENST00000235547.6	+	4	867	c.728A>T	c.(727-729)cAg>cTg	p.Q243L	HSD3B1_ENST00000369413.3_Missense_Mutation_p.Q241L|HSD3B1_ENST00000528909.1_Missense_Mutation_p.Q241L	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	241					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	AGGGCCCTGCAGGACCCCAAG	0.502000													15	104					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525994	176525994	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:176525994C>A	ENST00000367662.3	+	2	1700	c.536C>A	c.(535-537)aCc>aAc	p.T179N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T179N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	179					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATTTTCACAACCCTGAACGAA	0.582000													8	88					2.74318e-10	3.07059e-10	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139609162	139609162	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr8:139609162C>A	ENST00000303045.6	-	62	4863	c.4417G>T	c.(4417-4419)Ggg>Tgg	p.G1473W	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1453W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1473	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCTGCTTCCCCAGCTCTTCT	0.517000										HNSCC(7;0.00092)			33	149					2.42023e-17	2.7901e-17	1	1	0
CLSTN1	22883	broad.mit.edu	37	1	9794120	9794120	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:9794120G>A	ENST00000377298.4	-	15	2983	c.2191C>T	c.(2191-2193)Cac>Tac	p.H731Y	CLSTN1_ENST00000377288.3_Missense_Mutation_p.H712Y|CLSTN1_ENST00000361311.4_Missense_Mutation_p.H721Y	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	731					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTGCTCGTGGTTCAGCTCC	0.582000													15	49					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499583	18499583	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:18499583G>C	ENST00000433979.1	+	11	1554	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E480Q|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E480Q|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E480Q	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	480					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AGGCTTGATAGAGAAGGTAAC	0.363000													12	91					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42680096	42680096	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:42680096C>T	ENST00000232978.8	+	13	3088	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	967					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.S967L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGTTCCAATTCGGAAAACAAT	0.408000													17	72					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848640	166848640	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:166848640G>C	ENST00000423058.2	-	26	5162	c.5145C>G	c.(5143-5145)atC>atG	p.I1715M	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.I1715M|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1687M|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1704M	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1715						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGAATAGGCAGATCATGCTGT	0.463000													78	85					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904259	37904259	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:37904259C>G	ENST00000316950.6	-	6	1858	c.1301G>C	c.(1300-1302)aGa>aCa	p.R434T	ZNF569_ENST00000392150.2_Missense_Mutation_p.R275T|ZNF569_ENST00000392149.2_Missense_Mutation_p.R434T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	434					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)			AGGTTTCTCTCTAGTATGAAT	0.368000													6	90					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8551106	8551106	+	Silent	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:8551106G>T	ENST00000348943.3	+	15	1909	c.1677G>T	c.(1675-1677)ccG>ccT	p.P559P	HNRNPM_ENST00000325495.4_Silent_p.P598P	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	598	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CCATGGGCCCGGCCCTGGGCG	0.701000													17	48					6.94344e-10	7.74719e-10	1	1	0
SLC4A8	9498	broad.mit.edu	37	12	51882559	51882559	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:51882559T>C	ENST00000453097.2	+	18	2580	c.2363T>C	c.(2362-2364)aTc>aCc	p.I788T	SLC4A8_ENST00000358657.3_Missense_Mutation_p.I815T	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	788					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GCTGCAATTATCCCAGCTCTT	0.418000													33	60					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26741578	26741578	+	Missense_Mutation	SNP	A	A	G	rs144542050	byFrequency	TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:26741578A>G	ENST00000264866.4	+	17	1488	c.1210A>G	c.(1210-1212)Atc>Gtc	p.I404V	TBC1D19_ENST00000511789.1_Missense_Mutation_p.I339V	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	404	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				ACTCCATTCCATCTCTTCTCA	0.338000													25	50					0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528627	17528627	+	Silent	SNP	G	G	C	rs142972921	by1000genomes	TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:17528627G>C	ENST00000511148.2	+	3	723	c.621G>C	c.(619-621)gcG>gcC	p.A207A		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	207						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TCGTGGTGGCGATCAGTCAAA	0.507000													18	51					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131482233	131482233	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:131482233C>T	ENST00000291906.4	+	20	2706	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	771	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TTGACTGCATCGTCAACATGG	0.637000													49	44					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173878936	173878936	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:173878936C>G	ENST00000367698.3	-	5	1025	c.907G>C	c.(907-909)Gag>Cag	p.E303Q		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	303			Missing (in AT3D; type-I).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	AAGGGCAACTCAAGCACCTGG	0.537000													45	49					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170003619	170003619	+	Silent	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:170003619T>C	ENST00000367765.1	-	7	2017	c.516A>G	c.(514-516)ggA>ggG	p.G172G	KIFAP3_ENST00000367767.1_Silent_p.G168G|KIFAP3_ENST00000538366.1_Silent_p.G134G|KIFAP3_ENST00000361580.2_Silent_p.G212G	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	212					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGTAATAAGTCCATGAAATT	0.294000													14	53					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197273	32197273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:32197273G>A	ENST00000375250.5	-	3	752	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.Q171*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.Q171*|ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.Q171*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.Q171*	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	171					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GTCCTATTCTGGCTGGAAACT	0.443000													4	123					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75900572	75900572	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:75900572C>G	ENST00000321027.3	-	13	2020	c.1887G>C	c.(1885-1887)aaG>aaC	p.K629N	MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.K591N	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	629					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										GCGCTTACCTCTTTGGATACA	0.294000													13	64					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34054808	34054808	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:34054808G>A	ENST00000397527.1	+	8	1230	c.510G>A	c.(508-510)ctG>ctA	p.L170L	CEP250_ENST00000397524.1_Silent_p.L170L|CEP250_ENST00000342580.4_Silent_p.L170L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	170					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGGGCTACCTGAAAGGGGAGC	0.522000													25	65					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149424	41149424	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:41149424C>G	ENST00000263413.3	-	17	2806	c.2542G>C	c.(2542-2544)Gaa>Caa	p.E848Q	C6_ENST00000337836.5_Missense_Mutation_p.E848Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	848	C5b-binding domain.				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)				CTTGTCCTTTCAAGACCCCAT	0.428000													59	143					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144804292	144804292	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr8:144804292C>T	ENST00000338033.4	+	14	1625	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	502					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAGGATGTTCAGCACCTCTG	0.667000													6	62					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304093	47304093	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:47304093G>A	ENST00000342922.4	+	9	1988	c.1631G>A	c.(1630-1632)aGg>aAg	p.R544K	MADD_ENST00000395336.3_Missense_Mutation_p.R544K|MADD_ENST00000406482.1_Missense_Mutation_p.R544K|MADD_ENST00000402192.2_Missense_Mutation_p.R544K|MADD_ENST00000402799.1_Missense_Mutation_p.R544K|MADD_ENST00000407859.3_Missense_Mutation_p.R544K|MADD_ENST00000349238.3_Missense_Mutation_p.R544K|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000311027.5_Missense_Mutation_p.R544K|MADD_ENST00000395344.3_Missense_Mutation_p.R544K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	544	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AAATTGGCCAGGACTCAGGCT	0.557000													9	37					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20768970	20768970	+	Silent	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:20768970G>C	ENST00000258821.3	-	3	248	c.192C>G	c.(190-192)gtC>gtG	p.V64V		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	64					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CCTTGCCCTGGACAGAACCTA	0.418000													25	100					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252876	50252876	+	RNA	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:50252876T>A	ENST00000420502.1	+	0	511							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GCTACTCAAGTCCTCAGGGGT	0.587000													7	38					0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44615185	44615185	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr15:44615185C>T	ENST00000299957.6	+	2	649	c.350C>T	c.(349-351)tCg>tTg	p.S117L	CASC4_ENST00000360824.3_Missense_Mutation_p.S117L|CASC4_ENST00000345795.2_Missense_Mutation_p.S117L	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	117						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		AACAACATATCGTATCAGATG	0.284000													12	66					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19721463	19721463	+	Silent	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:19721463A>G	ENST00000507958.1	-	7	1626	c.636T>C	c.(634-636)ccT>ccC	p.P212P	CDH18_ENST00000274170.4_Silent_p.P212P|CDH18_ENST00000506372.1_Silent_p.P212P|CDH18_ENST00000502796.1_Silent_p.P212P|CDH18_ENST00000511273.1_Silent_p.P212P|CDH18_ENST00000382275.1_Silent_p.P212P			Q13634	CAD18_HUMAN	cadherin 18, type 2	212	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACCTGTTTTAGGGTCGACGG	0.443000													23	154					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516024	51516024	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:51516024T>C	ENST00000328188.1	+	1	743	c.743T>C	c.(742-744)tTc>tCc	p.F248S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GTCATCTTATTCTTTGTGCCC	0.438000													28	106					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470548	25470548	+	Missense_Mutation	SNP	C	C	G	rs143979354		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:25470548C>G	ENST00000264709.3	-	8	1263	c.926G>C	c.(925-927)cGc>cCc	p.R309P	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R309P|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R120P|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R86P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	309	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACACAATGCGGCCTGGCCA	0.617000			"""Mis, F, N, S"""		AML								10	37					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113098266	113098266	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:113098266T>A	ENST00000393845.2	-	17	2251	c.2185A>T	c.(2185-2187)Aaa>Taa	p.K729*	WDR52_ENST00000295868.2_Nonsense_Mutation_p.K729*	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	729	Glu-rich.									breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						tcctcctctttctcctcttcc	0.463000													9	53					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225084	158225084	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:158225084G>A	ENST00000289429.5	+	2	802	c.269G>A	c.(268-270)cGc>cAc	p.R90H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	90	Glycolipid binding.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTCCGTATACGCACCATTCGG	0.488000													9	80					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32717339	32717339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chrX:32717339G>A	ENST00000357033.4	-	8	927	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	DMD_ENST00000378677.2_Nonsense_Mutation_p.Q237*|DMD_ENST00000288447.4_Nonsense_Mutation_p.Q233*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	241					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCACTTGTTGAGGCAAAACT	0.388000													32	20					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735312	140735312	+	Missense_Mutation	SNP	T	T	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:140735312T>G	ENST00000571252.1	+	1	545	c.545T>G	c.(544-546)gTg>gGg	p.V182G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGGACGTGCAAAGTGGG	0.547000													3	26					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113098267	113098267	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:113098267C>T	ENST00000393845.2	-	17	2250	c.2184G>A	c.(2182-2184)gaG>gaA	p.E728E	WDR52_ENST00000295868.2_Silent_p.E728E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	728	Glu-rich.									breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						cctcctctttctcctcttcct	0.463000													9	55					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73830165	73830165	+	Silent	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:73830165C>G	ENST00000207549.4	-	24	2737	c.2358G>C	c.(2356-2358)ctG>ctC	p.L786L	UNC13D_ENST00000412096.2_Silent_p.L786L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	786					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCCTCAGGCAGGACAGACT	0.572000									Familial Hemophagocytic Lymphohistiocytosis				6	34					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184546	69184546	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr16:69184546C>T	ENST00000563094.1	+	7	879	c.845C>T	c.(844-846)cCg>cTg	p.P282L	CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Missense_Mutation_p.P282L|CIRH1A_ENST00000314423.7_Missense_Mutation_p.P282L			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	282						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CGGACAAAACCGTTCCAGCAT	0.572000											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	31					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107979220	107979220	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chrX:107979220G>A	ENST00000372129.2	-	1	431	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	119	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ACACTGTGCCGGAACTTCCTG	0.657000													3	30					0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594313	30594313	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr16:30594313C>A	ENST00000395216.2	-	3	945	c.786G>T	c.(784-786)aaG>aaT	p.K262N	AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.K247N	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TGAAGCGACTCTTGCAGTCTG	0.657000													12	29					3.07112e-06	3.22933e-06	1	1	0
INADL	10207	broad.mit.edu	37	1	62327290	62327290	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:62327290C>T	ENST00000371158.2	+	19	2504	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L	INADL_ENST00000316485.6_Missense_Mutation_p.S797L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	797					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACTGAATTTTCAGGAACAATT	0.254000													63	120					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216462698	216462698	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:216462698G>A	ENST00000366943.2	-	11	2281	c.1895C>T	c.(1894-1896)cCt>cTt	p.P632L	USH2A_ENST00000307340.3_Missense_Mutation_p.P632L|USH2A_ENST00000366942.3_Missense_Mutation_p.P632L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	632	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATGGCCGAAGGATCTGCACC	0.408000										HNSCC(13;0.011)			27	40					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135515530	135515530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:135515530C>T	ENST00000341911.5	+	8	1079	c.880C>T	c.(880-882)Cga>Tga	p.R294*	MYB_ENST00000367814.4_Nonsense_Mutation_p.R294*|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Nonsense_Mutation_p.R294*|MYB_ENST00000420123.2_Nonsense_Mutation_p.R270*|MYB_ENST00000534044.1_Nonsense_Mutation_p.R294*|MYB_ENST00000527615.1_Nonsense_Mutation_p.R294*|MYB_ENST00000442647.2_Nonsense_Mutation_p.R294*|MYB_ENST00000525369.1_Nonsense_Mutation_p.R294*|MYB_ENST00000533624.1_Intron|MYB_ENST00000534121.1_Nonsense_Mutation_p.R294*|MYB_ENST00000316528.8_Nonsense_Mutation_p.R294*	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	294	Transcriptional activation domain.				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GAAGGAAAAGCGAATAAAGGA	0.403000			T	NFIB	adenoid cystic carcinoma								16	46					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33575451	33575451	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:33575451C>T	ENST00000262873.7	+	15	1457	c.1365C>T	c.(1363-1365)taC>taT	p.Y455Y		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	413	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAACGAGTACGTGACCAAGG	0.662000													18	79					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34501151	34501151	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:34501151G>A	ENST00000242317.4	+	12	1206	c.1035G>A	c.(1033-1035)agG>agA	p.R345R		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	345					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAAAGTACAGGGATCTGTTTG	0.433000									Kartagener syndrome				38	122					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	123					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646888	57646888	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:57646888G>C	ENST00000269834.1	-	5	1202	c.817C>G	c.(817-819)Cat>Gat	p.H273D		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGGCATTATGAATTTTCTCA	0.363000													57	55					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18650645	18650645	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:18650645G>A	ENST00000433979.1	+	21	2972	c.2856G>A	c.(2854-2856)atG>atA	p.M952I	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.M952I|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.M993I	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	952	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATATGCAAATGATCATTTATA	0.388000													4	26					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47426694	47426694	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:47426694C>T	ENST00000426342.1	-	9	1824	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	MDGA2_ENST00000357362.3_Missense_Mutation_p.D360N|MDGA2_ENST00000439988.3_Missense_Mutation_p.D658N|MDGA2_ENST00000399232.2_Missense_Mutation_p.D589N	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	589	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCTGAGAGTCAAATTGACCC	0.443000													45	59					0	0	1	0	0
VPS26B	112936	broad.mit.edu	37	11	134114896	134114896	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:134114896C>T	ENST00000281187.5	+	5	1264	c.786C>T	c.(784-786)atC>atT	p.I262I	VPS26B_ENST00000525095.2_Silent_p.I262I	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	262					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TGCGGGACATCAACAAGAAGT	0.612000											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	14					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156084881	156084881	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:156084881G>A	ENST00000368300.4	+	1	384	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	LMNA_ENST00000347559.2_Missense_Mutation_p.G58R|LMNA_ENST00000368301.2_Missense_Mutation_p.G58R|LMNA_ENST00000361308.4_Missense_Mutation_p.G58R|LMNA_ENST00000368299.3_Missense_Mutation_p.G58R	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	58	Coil 1A.|Interaction with MLIP.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GGAGAACGCAGGGCTGCGCCT	0.652000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				7	7					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17552802	17552802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:17552802C>A	ENST00000005226.7	-	4	285	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	USH1C_ENST00000527720.1_Nonsense_Mutation_p.E65*|USH1C_ENST00000527020.1_Nonsense_Mutation_p.E96*|USH1C_ENST00000318024.4_Nonsense_Mutation_p.E96*	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	96	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCGAGGCCTTCGGGGTGCAGA	0.652000													10	24					0.00136819	0.00140463	1	1	0
PTX4	390667	broad.mit.edu	37	16	1535941	1535941	+	Nonstop_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr16:1535941C>G	ENST00000447419.2	-	3	1461	c.1436G>C	c.(1435-1437)tGa>tCa	p.*479S	PTX4_ENST00000293922.1_Nonstop_Mutation_p.*474S|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTCGGCCTCAGGGACAGCG	0.657000													6	6					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299454	62299454	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:62299454T>A	ENST00000378024.4	-	5	2709	c.2435A>T	c.(2434-2436)aAc>aTc	p.N812I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	812					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)				GACTTTGATGTTCATCTCAGG	0.453000													58	149					0	0	1	0	0
S100A14	57402	broad.mit.edu	37	1	153587462	153587462	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:153587462C>G	ENST00000368702.1	-	5	486	c.214G>C	c.(214-216)Ggc>Cgc	p.G72R	S100A14_ENST00000476873.1_Missense_Mutation_p.G72R|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000368701.1_Missense_Mutation_p.G72R|S100A14_ENST00000344616.2_Missense_Mutation_p.G72R			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	72					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGCAGCTGCCCAGGTTGGCA	0.562000													63	69					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201844303	201844303	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:201844303G>A	ENST00000361565.4	+	23	3031	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	988					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CGAGGATGATGAGGAAGATGA	0.502000													16	59					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2422768	2422768	+	Silent	SNP	A	A	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:2422768A>T	ENST00000449969.1	+	11	1733	c.1572A>T	c.(1570-1572)ggA>ggT	p.G524G	PLCH2_ENST00000378486.3_Silent_p.G551G|PLCH2_ENST00000419816.2_Silent_p.G551G|PLCH2_ENST00000378488.3_Silent_p.G551G|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	551					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GAAAGCTCGGACGCAAGGTAG	0.597000													9	36					0	0	1	0	0
EP400NL	347918	broad.mit.edu	37	12	132589621	132589621	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:132589621G>C	ENST00000376625.4	+	1	1082	c.1056G>C	c.(1054-1056)caG>caC	p.Q352H	EP400NL_ENST00000392352.1_Missense_Mutation_p.Q220H|EP400NL_ENST00000389560.2_Missense_Mutation_p.Q283H|EP400NL_ENST00000443539.2_Missense_Mutation_p.Q220H|EP400NL_ENST00000361109.5_Missense_Mutation_p.Q199H					EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						AGATGGCACAGATGAGGAAGC	0.512000													8	20					0	0	1	0	0
ZFAND5	7763	broad.mit.edu	37	9	74971863	74971863	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:74971863C>A	ENST00000237937.3	-	5	1034	c.477G>T	c.(475-477)aaG>aaT	p.K159N	ZFAND5_ENST00000376960.4_Missense_Mutation_p.K159N|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Missense_Mutation_p.K159N|ZFAND5_ENST00000376962.5_Missense_Mutation_p.K159N	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	159							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GACCAACTTTCTTTCTGCACA	0.408000													9	77					4.68919e-08	5.069e-08	1	1	0
OR13C2	392376	broad.mit.edu	37	9	107367090	107367090	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:107367090C>T	ENST00000542196.1	-	1	861	c.819G>A	c.(817-819)ttG>ttA	p.L273L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGGTAGCATCCAAGTCATCCG	0.418000													25	80					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44524453	44524453	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr21:44524453C>T	ENST00000291552.4	-	2	196	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.R35Q|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	35					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.R35L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						ATTGTGCAACCGAGAGCACCT	0.353000			Mis		"""CLL, MDS"""								19	22					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99284829	99284829	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:99284829C>A	ENST00000375241.1	-	12	1753	c.1302G>T	c.(1300-1302)ttG>ttT	p.L434F	CDC14B_ENST00000375240.3_Missense_Mutation_p.L434F|CDC14B_ENST00000265659.2_Missense_Mutation_p.L434F|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000375242.3_Missense_Mutation_p.L397F|CDC14B_ENST00000463569.1_Missense_Mutation_p.L434F|CDC14B_ENST00000375236.1_Missense_Mutation_p.L434F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	434					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTCTGCTTTTCAAGGCCCGAA	0.418000													20	28					1.9806e-07	2.12776e-07	1	1	0
MED23	9439	broad.mit.edu	37	6	131927674	131927674	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:131927674T>C	ENST00000403834.3	-	13	1503	c.1330A>G	c.(1330-1332)Aat>Gat	p.N444D	MED23_ENST00000539158.1_Missense_Mutation_p.N438D|MED23_ENST00000540546.1_Missense_Mutation_p.N444D|MED23_ENST00000368060.3_Missense_Mutation_p.N438D|MED23_ENST00000354577.4_Missense_Mutation_p.N444D|MED23_ENST00000545957.1_Missense_Mutation_p.N79D|MED23_ENST00000368058.1_Missense_Mutation_p.N444D|MED23_ENST00000368053.4_Missense_Mutation_p.N444D|MED23_ENST00000368068.3_Missense_Mutation_p.N438D			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	438					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GAGTTGTCATTTTGAGCTTTT	0.343000													25	37					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34854295	34854295	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr18:34854295G>A	ENST00000420428.2	-	6	1175	c.780C>T	c.(778-780)gcC>gcT	p.A260A	RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000588597.1_Silent_p.A249A|CELF4_ENST00000601019.1_Silent_p.A259A|CELF4_ENST00000603232.1_Silent_p.A260A|CELF4_ENST00000591287.1_Silent_p.A259A|CELF4_ENST00000361795.5_Silent_p.A259A|CELF4_ENST00000591282.1_Silent_p.A260A|CELF4_ENST00000412753.1_Silent_p.A260A|CELF4_ENST00000334919.5_Silent_p.A250A	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	260	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGGCGCCGTAGGCCCCGAAAG	0.627000													17	79					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27784442	27784442	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr16:27784442C>T	ENST00000261588.4	+	23	4240	c.4221C>T	c.(4219-4221)ctC>ctT	p.L1407L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1407										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTCAGCTTCTCACCAGCTGGG	0.433000													6	22					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133402872	133402872	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:133402872G>T	ENST00000329321.3	+	2	1524	c.1055G>T	c.(1054-1056)cGg>cTg	p.R352L	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	352						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGCAGTTTCGGCGGGTGTTC	0.632000													32	29					4.3181e-19	5.01131e-19	1	1	0
OR10J5	127385	broad.mit.edu	37	1	159505442	159505442	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:159505442C>A	ENST00000334857.2	-	1	400	c.356G>T	c.(355-357)gGg>gTg	p.G119V		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GCGGTCATACCCCATTGCAGT	0.468000													66	68					1.7104e-27	2.01874e-27	1	1	0
ALDH16A1	126133	broad.mit.edu	37	19	49972189	49972189	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:49972189C>T	ENST00000293350.4	+	16	2356	c.2193C>T	c.(2191-2193)cgC>cgT	p.R731R	ALDH16A1_ENST00000455361.2_Silent_p.R680R|ALDH16A1_ENST00000433981.2_Silent_p.R566R|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Silent_p.R568R	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	731							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ATCTGACCCGCTGCCTGGCCT	0.562000													46	58					0	0	1	0	0
LENEP	55891	broad.mit.edu	37	1	154966178	154966178	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:154966178T>C	ENST00000392487.1	+	1	115	c.95T>C	c.(94-96)aTg>aCg	p.M32T				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	32					multicellular organismal development		DNA binding			lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCATTAAGATGGGCACAGGG	0.612000													8	75					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101938723	101938723	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr15:101938723G>A	ENST00000348070.1	-	8	878	c.879C>T	c.(877-879)atC>atT	p.I293I	PCSK6_ENST00000398181.2_Silent_p.I293I|PCSK6_ENST00000358417.3_Silent_p.I293I|PCSK6_ENST00000344273.2_Silent_p.I293I|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.I128I	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	294	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGTTGGGTCTGATGCCCAGCG	0.637000													22	41					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60950464	60950464	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:60950464C>T	ENST00000321731.3	-	4	337	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	60										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCAATTTCCTCATCTGTTGCA	0.279000													5	37					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26384103	26384103	+	Silent	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:26384103C>G	ENST00000356709.4	+	2	165	c.54C>G	c.(52-54)ctC>ctG	p.L18L	BTN2A2_ENST00000352867.2_Silent_p.L18L|BTN2A2_ENST00000469230.1_Silent_p.L18L|BTN2A2_ENST00000432533.2_Silent_p.L18L|BTN2A2_ENST00000416795.2_Silent_p.L18L|BTN2A2_ENST00000482536.1_Silent_p.L18L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	18					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						tcctcctcctcctgctcctcc	0.587000													3	61					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15756633	15756633	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:15756633C>G	ENST00000221307.8	+	3	350	c.303C>G	c.(301-303)atC>atG	p.I101M	CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCGTCCGCATCTTCCACCCCA	0.592000													22	31					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27102186	27102186	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:27102186C>G	ENST00000324856.7	+	19	5483	c.5112C>G	c.(5110-5112)ttC>ttG	p.F1704L	ARID1A_ENST00000374152.2_Missense_Mutation_p.F1321L|ARID1A_ENST00000457599.2_Missense_Mutation_p.F1487L|ARID1A_ENST00000540690.1_Missense_Mutation_p.F32L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1704					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)		TCATGACCTTCAACCTCAGTC	0.478000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								8	33					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887025	25887025	+	Missense_Mutation	SNP	G	G	T	rs12218134		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:25887025G>T	ENST00000376351.3	+	11	2829	c.2470G>T	c.(2470-2472)Gtg>Ttg	p.V824L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	824						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTATGACCACGTGAGAGACCA	0.498000													32	95					5.91797e-21	6.89106e-21	1	1	0
CENPI	2491	broad.mit.edu	37	X	100402773	100402773	+	Silent	SNP	C	C	T	rs143412234	byFrequency	TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chrX:100402773C>T	ENST00000372927.1	+	18	2125	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A	CENPI_ENST00000423383.1_Silent_p.A616A|CENPI_ENST00000218507.5_Silent_p.A616A	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	616					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						ATTTGACTGCCGCAAAGAAAA	0.289000													20	21					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74287416	74287416	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:74287416G>C	ENST00000262765.5	-	4	3073	c.2894C>G	c.(2893-2895)cCa>cGa	p.P965R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	965							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGTTCTATTTGGATCCAAACC	0.517000													25	24					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150811981	150811981	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:150811981G>A	ENST00000358595.5	-	6	622	c.422C>T	c.(421-423)tCc>tTc	p.S141F	ARNT_ENST00000515192.1_Missense_Mutation_p.S132F|ARNT_ENST00000354396.2_Missense_Mutation_p.S141F|ARNT_ENST00000505755.1_Missense_Mutation_p.S126F	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	141	Helix-loop-helix motif.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCCCGCAAGGACTTCATGTG	0.488000			T	ETV6	AML								36	105					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172982	5172982	+	Silent	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:5172982G>T	ENST00000380367.1	-	2	1035	c.618C>A	c.(616-618)gcC>gcA	p.A206A	OR52A1_ENST00000328942.1_Silent_p.A206A			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	206					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTACAGTGAAGGCCACAAACA	0.423000													12	85					0.00185496	0.00189315	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15936606	15936606	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:15936606A>G	ENST00000504595.1	+	4	1268	c.787A>G	c.(787-789)Aaa>Gaa	p.K263E	FBXL7_ENST00000510662.1_Missense_Mutation_p.K216E|FBXL7_ENST00000329673.7_Missense_Mutation_p.K251E	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	263					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GGCCTCCATTAAACTGTCACC	0.577000													19	36					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210970914	210970914	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:210970914G>T	ENST00000367007.4	-	9	1939	c.1770C>A	c.(1768-1770)agC>agA	p.S590R	KCNH1_ENST00000271751.4_Missense_Mutation_p.S617R	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	617					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAAAGCAGAGGCTGTCAACGC	0.577000													11	55					1.58986e-06	1.67685e-06	1	1	0
PLEKHG6	55200	broad.mit.edu	37	12	6422938	6422938	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:6422938C>T	ENST00000449001.2	+	2	680	c.186C>T	c.(184-186)tcC>tcT	p.S62S	PLEKHG6_ENST00000011684.7_Silent_p.S94S|PLEKHG6_ENST00000396988.3_Silent_p.S94S|PLEKHG6_ENST00000536531.1_Silent_p.S94S	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	94					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGCTTCACTCCCCCAAACTCA	0.642000													4	25					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104844169	104844169	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr7:104844169C>T	ENST00000357311.3	-	2	273	c.102G>A	c.(100-102)ccG>ccA	p.P34P	SRPK2_ENST00000393651.3_Silent_p.P45P|SRPK2_ENST00000489828.1_Silent_p.P34P	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	34					angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GCAAAggtggcggtggtggtg	0.557000													11	6					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24509217	24509217	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:24509217G>A	ENST00000355123.4	-	16	2170	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	ITSN2_ENST00000361999.3_Missense_Mutation_p.S576L|ITSN2_ENST00000406921.3_Missense_Mutation_p.S576L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	576					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)					ACTGACCCCTGAATCTGAAAA	0.338000													15	55					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140373325	140373325	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr7:140373325G>A	ENST00000072869.4	+	1	373	c.195G>A	c.(193-195)ctG>ctA	p.L65L	ADCK2_ENST00000476491.1_Silent_p.L65L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	65						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGACGTTCTGAGTCGGCGAA	0.726000													5	13					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37331810	37331810	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:37331810C>T	ENST00000231498.3	-	14	1809	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	NUP155_ENST00000513532.1_Missense_Mutation_p.E536K|NUP155_ENST00000381843.2_Missense_Mutation_p.E477K	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	536					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAATCTTTCAATCTCTTCT	0.328000													23	61					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140907667	140907667	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:140907667C>T	ENST00000371372.1	+	18	2392	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.A749A|CACNA1B_ENST00000277551.2_Silent_p.A749A|CACNA1B_ENST00000371357.1_Silent_p.A750A|CACNA1B_ENST00000277550.3_Silent_p.A40A|CACNA1B_ENST00000371355.4_Silent_p.A750A	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	749					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCATGTCTGCCGCGAACATCT	0.592000													11	17					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634533	32634533	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:32634533T>C	ENST00000242310.4	-	1	1134	c.1045A>G	c.(1045-1047)Aaa>Gaa	p.K349E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	349					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTGTCACTTTATCTACATCT	0.507000													44	103					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116932261	116932261	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:116932261G>C	ENST00000537345.1	+	8	1318	c.955G>C	c.(955-957)Gag>Cag	p.E319Q	ATP1A1_ENST00000369496.4_Missense_Mutation_p.E288Q|ATP1A1_ENST00000295598.5_Missense_Mutation_p.E319Q|ATP1A1_ENST00000491156.1_3'UTR	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	319					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CACCTGGCTTGAGGCTGTCAT	0.502000													25	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179448549	179448549	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:179448549C>G	ENST00000589042.1	-	312	65584	c.65360G>C	c.(65359-65361)aGt>aCt	p.S21787T	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S12914T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S12847T|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S12722T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S20146T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S19219T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20146	Ig-like 114.						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)			AATAATTTTACTGCCTCCATC	0.448000													6	12					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99284821	99284821	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:99284821C>T	ENST00000375241.1	-	12	1761	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	CDC14B_ENST00000375240.3_Missense_Mutation_p.R437K|CDC14B_ENST00000265659.2_Missense_Mutation_p.R437K|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000375242.3_Missense_Mutation_p.R400K|CDC14B_ENST00000463569.1_Missense_Mutation_p.R437K|CDC14B_ENST00000375236.1_Missense_Mutation_p.R437K	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	437					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GGATTGTCTTCTGCTTTTCAA	0.418000													20	28					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725566	140725566	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:140725566G>A	ENST00000253812.6	+	1	1966	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTCTCCGCCACTGTCAC	0.706000													46	44					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436640	10436640	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:10436640G>C	ENST00000245503.5	-	21	2787	c.2403C>G	c.(2401-2403)ttC>ttG	p.F801L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.F801L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	801	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCTTGCCAAGAACCCTCTGC	0.458000													23	101					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800791	27800791	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:27800791C>G	ENST00000408964.2	+	1	1403	c.1352C>G	c.(1351-1353)aCa>aGa	p.T451R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	451										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATGGGGCTAACAAAGTCAAAG	0.468000													23	35					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336216	141336216	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:141336216T>C	ENST00000231484.3	-	1	2411	c.1201A>G	c.(1201-1203)Agg>Ggg	p.R401G		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	401	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTTCAGCCTGAAGTGGCCC	0.488000													28	60					0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32906533	32906533	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:32906533G>A	ENST00000416244.2	-	2	459	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.R89C|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R121C			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	89	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGCGCAAGCGCTGCATCAGG	0.552000													18	77					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159650940	159650940	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:159650940T>C	ENST00000297267.9	+	10	1474	c.1274T>C	c.(1273-1275)cTg>cCg	p.L425P	FNDC1_ENST00000340366.6_Intron	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	425	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTGGATGGTCTGCAGCCTGGG	0.507000													138	182					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377775	19377775	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:19377775C>T	ENST00000550708.1	+	1	254	c.182C>T	c.(181-183)gCt>gTt	p.A61V		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAGCCATTGCTTTTGTCCTG	0.428000													6	90					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77431673	77431673	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:77431673G>A	ENST00000451710.3	-	11	1457	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	TRPM6_ENST00000360774.1_Missense_Mutation_p.S407L|TRPM6_ENST00000376872.3_Missense_Mutation_p.S407L|TRPM6_ENST00000449912.2_Missense_Mutation_p.S402L|TRPM6_ENST00000361255.3_Missense_Mutation_p.S402L|TRPM6_ENST00000376864.4_Missense_Mutation_p.S407L|TRPM6_ENST00000376871.3_Missense_Mutation_p.S407L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	407					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCTGACGCTGATAAATTTGT	0.378000													21	64					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125464390	125464390	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr8:125464390C>G	ENST00000328599.3	+	1	1343	c.1222C>G	c.(1222-1224)Cag>Gag	p.Q408E	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	408					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CACTCTTCTTCAGCAGGTGCA	0.502000													31	22					0	0	1	0	0
CDC123	8872	broad.mit.edu	37	10	12252321	12252321	+	Splice_Site	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:12252321G>A	ENST00000281141.4	+	4	517	c.237G>A	c.(235-237)acG>acA	p.T79T	CDC123_ENST00000378900.2_Splice_Site_p.T79T|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	79					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CCACGCTTACGGTAAGAGCAC	0.433000													19	30					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113189946	113189946	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:113189946G>A	ENST00000401783.2	-	36	6236	c.5900C>T	c.(5899-5901)cCt>cTt	p.P1967L	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1944L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1967	Sushi 10.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTTGATGGCAGGTGGTTCTCC	0.527000											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	43					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158093	26158093	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chrX:26158093C>T	ENST00000325250.1	+	2	1178	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	331							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GGCAAATGCACGTTCCAGAAC	0.498000													7	4					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17108128	17108128	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:17108128G>A	ENST00000443236.1	-	11	1060	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	CPAMD8_ENST00000388925.4_Silent_p.F296F	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	296						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGCAGATGTCGAAGTCCCGGG	0.612000													3	4					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78553004	78553004	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:78553004G>A	ENST00000397909.2	+	23	4980	c.4807G>A	c.(4807-4809)Gaa>Aaa	p.E1603K	NAV3_ENST00000228327.6_Missense_Mutation_p.E1603K|NAV3_ENST00000536525.2_Missense_Mutation_p.E1603K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1426K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1603						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.E1603K(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCAGCTTTTGAAAAGAGCTT	0.388000										HNSCC(70;0.22)			12	41					0	0	1	0	0
DNAJC22	79962	broad.mit.edu	37	12	49743194	49743194	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:49743194T>A	ENST00000549441.2	+	3	1743	c.539T>A	c.(538-540)gTg>gAg	p.V180E	DNAJC22_ENST00000395069.3_Missense_Mutation_p.V180E			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	180					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						CCGCTCAGTGTGCGGCTCTAT	0.592000													26	56					0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	74981251	74981251	+	Silent	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:74981251T>C	ENST00000428202.2	-	10	1377	c.1188A>G	c.(1186-1188)gaA>gaG	p.E396E	POC5_ENST00000510798.1_Silent_p.E279E|POC5_ENST00000380475.2_Silent_p.E279E|POC5_ENST00000446329.2_Silent_p.E371E|POC5_ENST00000514838.2_Silent_p.E368E	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	396					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGCAGAATGTTCTTTTCCTT	0.463000													25	108					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238565	104238565	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:104238565C>T	ENST00000374851.1	-	4	1957	c.810G>A	c.(808-810)atG>atA	p.M270I	RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.M270I|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.M270I			Q9BRR3	CI125_HUMAN	transmembrane protein 246	270						integral to membrane											GCCCCAGCAACATGCCTACAC	0.532000													4	75					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878850	131878850	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr7:131878850C>A	ENST00000359827.3	-	14	3789	c.2827G>T	c.(2827-2829)Gcc>Tcc	p.A943S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A943S			Q9HCM2	PLXA4_HUMAN	plexin A4	943	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGGACCGGGCCATGAATTCA	0.592000													15	48					1.5739e-10	1.76745e-10	1	1	0
PHF11	51131	broad.mit.edu	37	13	50087250	50087250	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr13:50087250G>C	ENST00000357596.3	+	4	431	c.155G>C	c.(154-156)aGa>aCa	p.R52T	PHF11_ENST00000488958.1_Missense_Mutation_p.R52T|PHF11_ENST00000378319.3_Missense_Mutation_p.R91T	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		AATCCTGATAGAAGTTTTGAT	0.363000													5	9					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145112384	145112384	+	RNA	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:145112384C>T	ENST00000453618.1	+	0	685							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TACTTTCATTCAGAAAACCAA	0.418000													6	70					0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19808202	19808202	+	Missense_Mutation	SNP	C	C	T	rs35357220		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr22:19808202C>T	ENST00000329517.6	-	4	409	c.173G>A	c.(172-174)aGa>aAa	p.R58K	GNB1L_ENST00000405009.1_Missense_Mutation_p.R58K|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.R58K	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	58					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GGTAACCGCTCTCCGCGTCTG	0.647000													18	27					0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1164298	1164298	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:1164298G>A	ENST00000290902.5	-	5	1035	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	SPON2_ENST00000431380.1_Missense_Mutation_p.P235S	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	235					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTGGCGATGGGAGGCAGGGCC	0.647000													10	53					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11288788	11288788	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:11288788G>T	ENST00000361445.4	-	19	3043	c.2967C>A	c.(2965-2967)ttC>ttA	p.F989L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	989					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCTGGGGCAGGAACTGCACAC	0.527000													14	24					9.05144e-12	1.02642e-11	1	1	0
NCAPD3	23310	broad.mit.edu	37	11	134048611	134048611	+	Missense_Mutation	SNP	C	C	A	rs142260444		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:134048611C>A	ENST00000534548.2	-	22	2764	c.2700G>T	c.(2698-2700)gaG>gaT	p.E900D		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	900					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACGCTGGGGCCTCACTGCTGC	0.507000													55	34					2.22609e-26	2.61848e-26	1	1	0
EIF4A2	1974	broad.mit.edu	37	3	186505012	186505012	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:186505012A>G	ENST00000323963.5	+	8	932	c.868A>G	c.(868-870)Act>Gct	p.T290A	EIF4A2_ENST00000356531.5_Missense_Mutation_p.T195A|EIF4A2_ENST00000440191.2_Missense_Mutation_p.T291A			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	290	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GGACTGGCTGACTGAGAAGAT	0.433000			T	BCL6	NHL								90	70					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434436	118434436	+	Silent	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:118434436G>C	ENST00000369209.3	-	12	1988	c.1884C>G	c.(1882-1884)ctC>ctG	p.L628L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	628							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGTCCCTGTGAGATCCAGGC	0.572000													21	23					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:7577097C>G	ENST00000420246.2	-	8	973	c.841G>C	c.(841-843)Gac>Cac	p.D281H	TP53_ENST00000359597.4_Missense_Mutation_p.D281H|TP53_ENST00000269305.4_Missense_Mutation_p.D281H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.D281H|TP53_ENST00000455263.2_Missense_Mutation_p.D281H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GTGCGCCGGTCTCTCCCAGGA	0.547000		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)			6	19					0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	685630	685630	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:685630G>A	ENST00000304478.4	+	1	118	c.12G>A	c.(10-12)ctG>ctA	p.L4L		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	4					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		TGGCGGCGCTGGTGAGACCCG	0.711000													3	4					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118376908	118376908	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:118376908C>G	ENST00000534358.1	+	27	10324	c.10301C>G	c.(10300-10302)tCc>tGc	p.S3434C	KMT2A_ENST00000354520.4_Missense_Mutation_p.S3393C|KMT2A_ENST00000389506.5_Missense_Mutation_p.S3431C	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GTGCTCCCCTCCACTCAGACT	0.537000													55	36					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18885765	18885765	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:18885765C>T	ENST00000338797.6	+	13	1554	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Missense_Mutation_p.A453V|CRTC1_ENST00000321949.8_Missense_Mutation_p.A494V	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	494					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CAGCAGATGGCGGCCAGGCAG	0.672000													12	42					0	0	1	0	0
RALY	22913	broad.mit.edu	37	20	32664892	32664892	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:32664892C>T	ENST00000375114.3	+	7	1247	c.669C>T	c.(667-669)agC>agT	p.S223S	RALY_ENST00000246194.3_Silent_p.S239S	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	239						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						gtggtggcagcggtggcggtg	0.682000													4	7					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7218076	7218076	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:7218076G>A	ENST00000361972.4	-	17	1950	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D	SFMBT2_ENST00000397167.1_Silent_p.D620D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	620					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTGCGACTTGGTCAGATGTCC	0.463000													45	84					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73213434	73213434	+	Silent	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:73213434G>T	ENST00000377110.3	-	20	3156	c.2913C>A	c.(2911-2913)gtC>gtA	p.V971V	TRPM3_ENST00000396285.1_Silent_p.V818V|TRPM3_ENST00000377106.1_Silent_p.V843V|TRPM3_ENST00000423814.3_Silent_p.V998V|TRPM3_ENST00000360823.2_Silent_p.V833V|TRPM3_ENST00000396292.4_Silent_p.V843V|TRPM3_ENST00000377105.1_Silent_p.V830V|TRPM3_ENST00000396280.5_Silent_p.V820V|TRPM3_ENST00000377111.2_Silent_p.V971V|TRPM3_ENST00000358082.3_Silent_p.V833V|TRPM3_ENST00000408909.2_Silent_p.V830V|TRPM3_ENST00000357533.2_Silent_p.V975V			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CGCAGTAGATGACCCTCCCGT	0.483000													28	104					7.41945e-09	8.12161e-09	1	1	0
NARG2	79664	broad.mit.edu	37	15	60760412	60760412	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr15:60760412G>T	ENST00000261520.4	-	4	490	c.256C>A	c.(256-258)Ctt>Att	p.L86I	NARG2_ENST00000561114.1_Missense_Mutation_p.L86I|NARG2_ENST00000439632.1_Intron|NARG2_ENST00000558654.1_Intron	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	86						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TTTGGAAGAAGAACCATTCCA	0.403000													14	60					0.000151284	0.000157173	1	1	0
UNC13D	201294	broad.mit.edu	37	17	73836641	73836641	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:73836641G>A	ENST00000207549.4	-	9	1079	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	UNC13D_ENST00000412096.2_Missense_Mutation_p.R234W|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	234					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGTCCTTCCGGGCCTCTTTA	0.632000									Familial Hemophagocytic Lymphohistiocytosis				13	44					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133364	153133364	+	Splice_Site	SNP	C	C	T	rs145241190		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chrX:153133364C>T	ENST00000370060.1	-	16	2019	c.1830G>A	c.(1828-1830)ggG>ggA	p.G610G	L1CAM_ENST00000370055.1_Splice_Site_p.G605G|L1CAM_ENST00000361981.3_Splice_Site_p.G605G|L1CAM_ENST00000361699.4_Splice_Site_p.G610G|L1CAM_ENST00000370057.3_Splice_Site_p.G610G|L1CAM_ENST00000538883.1_Splice_Site_p.G612G|L1CAM_ENST00000543994.1_Splice_Site_p.G612G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	610					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAGGGCTCCCTGAGGGTG	0.662000													24	19					0	0	1	0	0
C9orf139	401563	broad.mit.edu	37	9	139929186	139929186	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:139929186C>T	ENST00000314330.2	+	3	1767	c.253C>T	c.(253-255)Ctt>Ttt	p.L85F		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	85										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GCCTGCCATCCTTCCTGTTTG	0.662000													18	35					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83891582	83891582	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:83891582C>G	ENST00000340417.3	-	4	1226	c.849G>C	c.(847-849)aaG>aaC	p.K283N	LIN54_ENST00000442461.2_Missense_Mutation_p.K62N|LIN54_ENST00000510557.1_Missense_Mutation_p.K62N|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000446851.2_Missense_Mutation_p.K62N|LIN54_ENST00000505397.1_Missense_Mutation_p.K283N|LIN54_ENST00000395282.2_Missense_Mutation_p.R242T	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	283					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)				TTGTTATGGTCTTTGATGGAG	0.353000													35	52					0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38167058	38167058	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:38167058C>G	ENST00000333167.8	-	11	1369	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N	ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.K358N|ACAA1_ENST00000301810.7_Missense_Mutation_p.K306N	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	399					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		AGCCTTACCTCTTCCCACGGC	0.602000													10	59					0	0	1	0	0
ADA	100	broad.mit.edu	37	20	43251677	43251677	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:43251677C>T	ENST00000372874.4	-	7	783	c.649G>A	c.(649-651)Gag>Aag	p.E217K	PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	217					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GAGCCCACCTCCCCGGCGTGG	0.652000									Adenosine Deaminase Deficiency				10	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582046	179582046	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:179582046C>A	ENST00000589042.1	-	88	25639	c.25415G>T	c.(25414-25416)aGt>aTt	p.S8472I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8155I|TTN_ENST00000342992.6_Missense_Mutation_p.S7228I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8155	Ig-like 67.						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)			AAAAGTACCACTTTCTCCAAG	0.408000													8	25					1.76689e-08	1.92198e-08	1	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47591343	47591343	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:47591343C>G	ENST00000371917.4	+	13	1706	c.1706C>G	c.(1705-1707)tCc>tGc	p.S569C		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	569					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGCCTCGTGTCCATTCTCAAG	0.517000													5	23					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47859158	47859158	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:47859158C>T	ENST00000371764.4	+	19	2246	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	746						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAAGAAATCTGTATTTGAT	0.438000													48	62					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203494	56203494	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr18:56203494C>T	ENST00000361673.3	-	5	4138	c.3925G>A	c.(3925-3927)Gat>Aat	p.D1309N	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1309							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						TCTCTGCTATCAGCAAGGGCT	0.517000													35	61					0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18219783	18219783	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:18219783C>G	ENST00000406438.3	+	1	1160	c.680C>G	c.(679-681)tCt>tGt	p.S227C		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	227										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTTTACTCATCTCAGGCAATT	0.458000													13	31					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088469	86088469	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:86088469C>A	ENST00000330753.4	+	2	1378	c.611C>A	c.(610-612)aCg>aAg	p.T204K	FLRT2_ENST00000554746.1_Missense_Mutation_p.T204K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	204					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGAATCTCACGAGCTTGGAG	0.512000													10	58					4.68919e-08	5.069e-08	1	1	0
TENM3	55714	broad.mit.edu	37	4	183245371	183245371	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:183245371G>A	ENST00000511685.1	+	2	321	c.198G>A	c.(196-198)ttG>ttA	p.L66L	TENM3_ENST00000406950.2_Silent_p.L66L					teneurin transmembrane protein 3																		TGAAGGATTTGGTTCACAGAG	0.468000													22	40					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117710844	117710844	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:117710844G>A	ENST00000368508.3	-	12	1626	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V	ROS1_ENST00000368507.3_Silent_p.V485V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	476					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGACATGAAGACTTGGGCAG	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								30	31					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969067	5969067	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:5969067C>G	ENST00000329564.6	+	1	498	c.491C>G	c.(490-492)cCc>cGc	p.P164R		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCCATCCCCATCCTTTCA	0.448000													4	101					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36587764	36587764	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:36587764G>A	ENST00000273183.3	+	11	1492	c.1192G>A	c.(1192-1194)Gta>Ata	p.V398I	STAC_ENST00000457375.2_Missense_Mutation_p.V337I	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	398					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CCCCCTTGATGTACTAGAAAA	0.483000													16	98					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76564872	76564872	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:76564872G>C	ENST00000369981.3	+	12	1374	c.1095G>C	c.(1093-1095)aaG>aaC	p.K365N	MYO6_ENST00000369977.3_Missense_Mutation_p.K365N|MYO6_ENST00000369975.1_Missense_Mutation_p.K365N|MYO6_ENST00000369985.4_Missense_Mutation_p.K365N			Q9UM54	MYO6_HUMAN	myosin VI	365	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTAATCTGAAGAATAAATCTG	0.318000													12	38					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48055291	48055291	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr15:48055291A>G	ENST00000316364.5	+	9	1176	c.737A>G	c.(736-738)aAt>aGt	p.N246S	SEMA6D_ENST00000536845.2_Missense_Mutation_p.N246S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.N246S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.N246S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.N246S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.N246S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.N246S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.N246S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.N246S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.N246S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.N246S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.N246S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	246	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.N246I(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GAACATAATAATTTAGGCAAG	0.363000													5	14					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17609135	17609135	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:17609135C>G	ENST00000226299.4	+	13	1757	c.1483C>G	c.(1483-1485)Cta>Gta	p.L495V	LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Missense_Mutation_p.L464V|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	495					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						AGTTCCCTATCTACGGAAAGG	0.433000													27	50					0	0	1	0	0
DHRS1	115817	broad.mit.edu	37	14	24766076	24766076	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:24766076G>A	ENST00000288111.7	-	3	438	c.162C>T	c.(160-162)ctC>ctT	p.L54L	DHRS1_ENST00000396813.1_Silent_p.L54L	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	54						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		ATTGGCCCCCGAGGGATTGTG	0.537000											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	36					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	171009587	171009587	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:171009587C>G	ENST00000337664.4	-	2	472	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	AADAT_ENST00000515480.1_Missense_Mutation_p.E66Q|AADAT_ENST00000509167.1_Missense_Mutation_p.E70Q|AADAT_ENST00000353187.2_Missense_Mutation_p.E66Q	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	66					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTCATCATCTCTTCTCCAAAT	0.373000													27	59					0	0	1	0	0
TMEM140	55281	broad.mit.edu	37	7	134849212	134849212	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr7:134849212C>T	ENST00000275767.3	+	2	242	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140				R -> Q (in dbSNP:rs3800592).			integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CCCAAGGCCTCGGTGGCGCGA	0.592000													30	14					0	0	1	0	0
CEP19	84984	broad.mit.edu	37	3	196434703	196434703	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:196434703C>G	ENST00000409690.3	-	3	645	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	CEP19_ENST00000399942.4_Missense_Mutation_p.E36Q	NM_032898.3	NP_116287.2	Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	71						centriole|spindle pole		p.E71Q(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						AATAGCTTCTCTAGCTGCCTC	0.438000													69	45					0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57175797	57175797	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:57175797C>T	ENST00000554643.1	+	4	702	c.353C>T	c.(352-354)cCa>cTa	p.P118L	HSD17B6_ENST00000555159.1_Missense_Mutation_p.P118L|HSD17B6_ENST00000554150.1_Missense_Mutation_p.P118L|HSD17B6_ENST00000322165.1_Missense_Mutation_p.P118L|HSD17B6_ENST00000555805.1_Missense_Mutation_p.P118L			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	118					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	ATTCTTACACCAATTACCTTA	0.413000													18	69					0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511689	44511689	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:44511689C>T	ENST00000372523.1	+	2	553	c.458C>T	c.(457-459)cCa>cTa	p.P153L	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.P153L	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	153							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CATTTCCTTCCACTGCCTATC	0.502000													27	29					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088480	86088480	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:86088480C>A	ENST00000330753.4	+	2	1389	c.622C>A	c.(622-624)Cgt>Agt	p.R208S	FLRT2_ENST00000554746.1_Missense_Mutation_p.R208S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	208					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GAGCTTGGAGCGTCTTATTGT	0.502000													12	60					9.05144e-12	1.02642e-11	1	1	0
RCSD1	92241	broad.mit.edu	37	1	167666545	167666545	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:167666545G>A	ENST00000367854.3	+	6	1015	c.684G>A	c.(682-684)gtG>gtA	p.V228V	RCSD1_ENST00000537350.1_Silent_p.V198V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	228	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GAGAGGGAGTGAGAACCCTGG	0.592000													7	50					0	0	1	0	0
NMI	9111	broad.mit.edu	37	2	152132274	152132274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:152132274G>A	ENST00000243346.5	-	5	915	c.445C>T	c.(445-447)Cag>Tag	p.Q149*		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	149					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	p.Q149*(1)		endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTGTTACCTGGAATCTGACT	0.353000													11	25					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615679	4615679	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:4615679G>C	ENST00000450052.2	+	2	483	c.483G>C	c.(481-483)aaG>aaC	p.K161N	OR52I1_ENST00000530443.2_Missense_Mutation_p.K137N			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACACTACAAGAGAATTCTCA	0.493000													7	42					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76355520	76355520	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:76355520G>A	ENST00000312916.7	+	12	2178	c.1796G>A	c.(1795-1797)gGa>gAa	p.G599E		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	599					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GAGCAGGTTGGAAGTGAAGGA	0.348000													13	43					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189033	7189033	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:7189033C>T	ENST00000317370.8	+	10	1400	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	SLC2A4_ENST00000571308.1_Missense_Mutation_p.P378S|SLC2A4_ENST00000424875.2_Missense_Mutation_p.P368S	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	378					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGAGCGAGTTCCAGCCATGAG	0.547000													31	37					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118375563	118375563	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:118375563C>T	ENST00000534358.1	+	27	8979	c.8956C>T	c.(8956-8958)Cca>Tca	p.P2986S	KMT2A_ENST00000354520.4_Missense_Mutation_p.P2945S|KMT2A_ENST00000389506.5_Missense_Mutation_p.P2983S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGGAGTAGATCCAACTCCTGA	0.493000													29	26					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81944312	81944312	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr16:81944312C>G	ENST00000359376.3	+	18	2135	c.1921C>G	c.(1921-1923)Cac>Gac	p.H641D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	641					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCCAACCCCCACGAGTCCAA	0.667000													19	75					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47672783	47672783	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:47672783T>C	ENST00000406134.1	+	8	1435	c.1373T>C	c.(1372-1374)tTa>tCa	p.L458S	MSH2_ENST00000233146.2_Missense_Mutation_p.L458S|MSH2_ENST00000543555.1_Missense_Mutation_p.L392S			P43246	MSH2_HUMAN	mutS homolog 2	458					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAACAACTTTAGATATGGAT	0.308000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				20	28					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8633388	8633388	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:8633388G>A	ENST00000381196.4	-	11	824	c.281C>T	c.(280-282)gCc>gTc	p.A94V	PTPRD_ENST00000537002.1_Missense_Mutation_p.A94V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A94V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A94V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A94V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A94V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A94V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A94V|PTPRD_ENST00000463477.1_Missense_Mutation_p.A94V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A94V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A94V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A94V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	94	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCATAAATGGCCTCATCCCT	0.448000										TSP Lung(15;0.13)			39	110					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													5	165					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364359	43364359	+	RNA	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:43364359G>T	ENST00000344686.2	-	0	698							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGAGGCTTGGTGAACTGCGG	0.587000													14	17					6.72482e-11	7.57634e-11	1	1	0
SLC6A11	6538	broad.mit.edu	37	3	10980081	10980081	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:10980081A>G	ENST00000254488.2	+	14	1958	c.1892A>G	c.(1891-1893)cAc>cGc	p.H631R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	631					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		AAGGAGACGCACTTCTGAGCG	0.542000													26	39					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50114444	50114444	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:50114444G>A	ENST00000443081.1	+	21	3773	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K	RBM6_ENST00000266022.4_Missense_Mutation_p.E1084K|RBM6_ENST00000442092.1_Missense_Mutation_p.E562K|RBM6_ENST00000539992.1_Missense_Mutation_p.E426K|RBM6_ENST00000422955.1_Missense_Mutation_p.E562K|RBM6_ENST00000421682.1_Missense_Mutation_p.E80K			P78332	RBM6_HUMAN	RNA binding motif protein 6	1084					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TTTACAGGCTGAAGGCCGGAT	0.493000													8	21					0	0	1	0	0
SNORD113-2	767562	broad.mit.edu	37	14	101393713	101393713	+	RNA	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:101393713C>G	ENST00000391082.1	+	0	35					NR_003230.1																						CTGTAGGAATCAAAGATTTTG	0.294000													17	52					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026765	182026765	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:182026765G>A	ENST00000339948.3	-	2	588	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CGAGACCACTGGGAAGGGAAC	0.557000													10	65					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22836730	22836730	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:22836730G>T	ENST00000456783.2	+	3	287	c.43G>T	c.(43-45)Gcc>Tcc	p.A15S		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	15	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGGTATTGCTGCCTCTAAGCC	0.398000													5	127					1.23904e-05	1.29502e-05	1	1	0
NELL2	4753	broad.mit.edu	37	12	45173474	45173474	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:45173474T>C	ENST00000429094.2	-	5	1082	c.578A>G	c.(577-579)cAg>cGg	p.Q193R	NELL2_ENST00000551601.1_Missense_Mutation_p.Q192R|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Missense_Mutation_p.Q243R|NELL2_ENST00000549027.1_Missense_Mutation_p.Q192R|NELL2_ENST00000452445.2_Missense_Mutation_p.Q193R|NELL2_ENST00000395487.2_Missense_Mutation_p.Q192R|NELL2_ENST00000333837.4_Missense_Mutation_p.Q216R	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	193	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATTATTTCTCTGTCCTAGCCA	0.353000													23	34					0	0	1	0	0
PI4KB	5298	broad.mit.edu	37	1	151288430	151288430	+	Silent	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:151288430C>A	ENST00000368875.2	-	3	1144	c.564G>T	c.(562-564)ctG>ctT	p.L188L	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Silent_p.L176L|PI4KB_ENST00000368872.1_Silent_p.L176L|PI4KB_ENST00000368874.4_Silent_p.L176L|PI4KB_ENST00000271657.5_Silent_p.L188L	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	176					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAACTGGGGCAGATAGAAGT	0.502000													69	85					3.89499e-28	4.61283e-28	1	1	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5653496	5653496	+	Missense_Mutation	SNP	T	T	C	rs142777756		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:5653496T>C	ENST00000354852.5	+	8	1170	c.997T>C	c.(997-999)Tct>Cct	p.S333P	HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_5'UTR|TRIM34_ENST00000429814.2_5'UTR	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		333						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CATCCAGGGGTCTTTAACCAG	0.443000											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	44					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057640	63057640	+	Translation_Start_Site	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:63057640G>A	ENST00000332793.6	+	1	5	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	1						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACAATCAATGGCCTTTGAGG	0.403000													18	23					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113351678	113351678	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:113351678G>A	ENST00000458497.1	+	11	1254	c.975G>A	c.(973-975)ctG>ctA	p.L325L	ALPK1_ENST00000177648.9_Silent_p.L325L|ALPK1_ENST00000504176.2_Silent_p.L247L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	325							ATP binding|protein serine/threonine kinase activity	p.L325L(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACTTACATCTGTGTGAAGCCA	0.428000													96	23					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21350369	21350369	+	Nonsense_Mutation	SNP	C	C	A	rs117346988	byFrequency	TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr22:21350369C>A	ENST00000215739.8	+	18	2546	c.2187C>A	c.(2185-2187)taC>taA	p.Y729*	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Nonsense_Mutation_p.Y710*	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	729	BTB 2.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACATCTACTACGGCGAGGTCA	0.627000													18	47					1.33834e-09	1.48847e-09	1	1	0
NF1	4763	broad.mit.edu	37	17	29576048	29576048	+	Nonsense_Mutation	SNP	C	C	T	rs137854559		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:29576048C>T	ENST00000358273.4	+	30	4404	c.4021C>T	c.(4021-4023)Cag>Tag	p.Q1341*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1341*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1341	Ras-GAP.				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.?(4)|p.Q1341*(1)	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)		GAACCTCCTTCAGATGACTGA	0.388000			"""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)			36	116					0	0	1	0	0
BTD	686	broad.mit.edu	37	3	15683562	15683562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:15683562G>T	ENST00000383778.4	+	3	755	c.397G>T	c.(397-399)Gag>Tag	p.E133*	BTD_ENST00000482824.1_3'UTR|BTD_ENST00000303498.5_Nonsense_Mutation_p.E153*|BTD_ENST00000437172.1_Nonsense_Mutation_p.E155*|BTD_ENST00000449107.1_Nonsense_Mutation_p.E155*	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	153	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CAATGACACAGAGGTGATTCC	0.483000													17	18					1.02788e-11	1.16181e-11	1	1	0
GPATCH2	55105	broad.mit.edu	37	1	217622605	217622605	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:217622605C>G	ENST00000366935.3	-	9	1462	c.1352G>C	c.(1351-1353)gGa>gCa	p.G451A		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	451						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGTAGTAGGTCCAGGCAAAGG	0.373000													17	48					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98642391	98642391	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr13:98642391G>C	ENST00000261574.5	+	8	713	c.533G>C	c.(532-534)gGa>gCa	p.G178A	IPO5_ENST00000539640.1_Intron|IPO5_ENST00000490680.1_Missense_Mutation_p.G160A	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	160					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						AACTTTCCTGGAATTTTTGGG	0.318000													9	33					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3382241	3382241	+	Splice_Site	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:3382241G>A	ENST00000589123.1	+	2	655	c.535G>A	c.(535-537)Gat>Aat	p.D179N	NFIC_ENST00000346156.5_Splice_Site_p.D179N|NFIC_ENST00000395111.3_Splice_Site_p.D179N|NFIC_ENST00000590282.1_Splice_Site_p.D188N|NFIC_ENST00000443272.2_Splice_Site_p.D188N|NFIC_ENST00000341919.3_Splice_Site_p.D188N|NFIC_ENST00000586919.1_Splice_Site_p.D179N	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	188					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GCGTGAGCGAGGTGAGGTGTG	0.687000													9	27					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196876134	196876134	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:196876134G>A	ENST00000367416.2	+	4	717	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AGTGTGTGGTGAAGATGGCTG	0.343000													10	19					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74019729	74019729	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:74019729G>A	ENST00000358602.4	-	6	1218	c.1102C>T	c.(1102-1104)Cat>Tat	p.H368Y	ANKRD17_ENST00000330838.6_Missense_Mutation_p.H368Y|ANKRD17_ENST00000509867.2_Missense_Mutation_p.H255Y	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	368					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAGGGGTATGACCATTTTCA	0.428000													49	94					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144518	11144518	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:11144518G>A	ENST00000358026.2	+	27	4134	c.3850G>A	c.(3850-3852)Gac>Aac	p.D1284N	SMARCA4_ENST00000541122.2_Intron|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1284N|SMARCA4_ENST00000538456.3_Intron|SMARCA4_ENST00000590574.1_Intron|SMARCA4_ENST00000444061.3_Intron|SMARCA4_ENST00000413806.3_Intron|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1284N|SMARCA4_ENST00000589677.1_Intron|SMARCA4_ENST00000450717.3_Intron	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1284					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.D1284N(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				cgtcaaccccgacttggagga	0.617000			"""F, N, Mis"""		NSCLC								5	22					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86087861	86087861	+	Translation_Start_Site	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:86087861G>A	ENST00000330753.4	+	2	770	c.3G>A	c.(1-3)atG>atA	p.M1I	FLRT2_ENST00000554746.1_Start_Codon_SNP_p.M1I	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	1					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTTCAGAAATGGGCCTACAGA	0.423000													22	48					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866671	37866671	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:37866671G>C	ENST00000406381.2	+	9	1258	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	ERBB2_ENST00000540042.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540147.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.E280Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.E280Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.E265Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	280					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGACACGTTTGAGTCCATGCC	0.587000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			16	22					0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29535631	29535631	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr7:29535631G>T	ENST00000222792.6	+	8	1248	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S	CHN2_ENST00000539406.1_Missense_Mutation_p.A315S|CHN2_ENST00000421775.2_Missense_Mutation_p.A104S|CHN2_ENST00000409041.4_Missense_Mutation_p.A104S|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.A253S|CHN2_ENST00000539389.1_Missense_Mutation_p.A96S|CHN2_ENST00000546235.1_Missense_Mutation_p.A225S|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000439711.2_Missense_Mutation_p.A104S|CHN2_ENST00000424025.2_Missense_Mutation_p.A59S	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	240					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GGGGCTCATCGCCCAAGGGGT	0.493000													12	43					6.31663e-08	6.80705e-08	1	1	0
SLC4A3	6508	broad.mit.edu	37	2	220493975	220493975	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:220493975G>C	ENST00000358055.3	+	4	839	c.327G>C	c.(325-327)aaG>aaC	p.K109N	SLC4A3_ENST00000317151.3_Missense_Mutation_p.K109N|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.K109N|SLC4A3_ENST00000273063.6_Missense_Mutation_p.K109N|SLC4A3_ENST00000373762.3_Missense_Mutation_p.K109N			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	109					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGGAGAAAGAGGAAGAAGG	0.662000													10	9					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137735648	137735648	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:137735648G>A	ENST00000314358.5	+	11	3346	c.3146G>A	c.(3145-3147)gGa>gAa	p.G1049E	KDM3B_ENST00000394866.1_Missense_Mutation_p.G705E|KDM3B_ENST00000542866.1_Missense_Mutation_p.G81E	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1049					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						CGCAAATGTGGATTTGGGGTC	0.507000													14	62					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	rs121912660		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:7577099C>T	ENST00000420246.2	-	8	971	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			6	18					0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59147751	59147751	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:59147751T>A	ENST00000472487.1	-	8	1004	c.965A>T	c.(964-966)aAc>aTc	p.N322I	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	322					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CTTGTTGCAGTTTTTAATCAA	0.348000													4	117					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74010548	74010548	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:74010548C>A	ENST00000301607.3	-	18	2585	c.2332G>T	c.(2332-2334)Gac>Tac	p.D778Y	EVPL_ENST00000586740.1_Missense_Mutation_p.D800Y	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	778	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGGGGCCGTCGCTGGGCCGC	0.662000													15	29					1.3612e-06	1.44005e-06	1	1	0
ZNF98	148198	broad.mit.edu	37	19	22585678	22585678	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:22585678C>A	ENST00000357774.5	-	3	287	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	ZNF98_ENST00000601553.1_Missense_Mutation_p.A56S	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGCTTAGAGGCAGCAATACCT	0.393000													18	77					9.16793e-09	1.0004e-08	1	1	0
SLC6A11	6538	broad.mit.edu	37	3	10979948	10979948	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:10979948T>A	ENST00000254488.2	+	14	1825	c.1759T>A	c.(1759-1761)Ttg>Atg	p.L587M		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	587					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACTCCAGAAGTTGACGACCCC	0.572000													9	59					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53619666	53619666	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:53619666C>T	ENST00000357758.3	-	1	334	c.151G>A	c.(151-153)Gac>Aac	p.D51N	DDHD1_ENST00000323669.5_Missense_Mutation_p.D51N|DDHD1_ENST00000395606.1_Missense_Mutation_p.D51N	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	51					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ACGTCGCCGTCGTCCGGGTCC	0.766000													3	5					0	0	1	0	0
FBXL16	146330	broad.mit.edu	37	16	746932	746932	+	Silent	SNP	C	C	T	rs150039881		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr16:746932C>T	ENST00000397621.1	-	2	805	c.474G>A	c.(472-474)gtG>gtA	p.V158V	FBXL16_ENST00000324361.5_Silent_p.V158V	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	158										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CCTGCAGGTTCACGAACTCCT	0.607000													16	16					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23906504	23906504	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr13:23906504C>T	ENST00000382298.3	-	10	12099	c.11511G>A	c.(11509-11511)caG>caA	p.Q3837Q	SACS_ENST00000382292.3_Silent_p.Q3837Q|SACS_ENST00000402364.1_Silent_p.Q3087Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3837					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGAACAACTGGTGAAATG	0.343000													10	53					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20790054	20790054	+	Silent	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:20790054C>A	ENST00000359062.3	+	9	2062	c.2022C>A	c.(2020-2022)ccC>ccA	p.P674P	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	674					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTCTTGCTCCCGAACCTCTTG	0.338000													18	40					1.2644e-06	1.34174e-06	1	1	0
PSG4	5672	broad.mit.edu	37	19	43708147	43708147	+	Silent	SNP	C	C	A	rs150830749	byFrequency	TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:43708147C>A	ENST00000405312.3	-	2	558	c.321G>T	c.(319-321)ctG>ctT	p.L107L	PSG4_ENST00000433626.2_Silent_p.L107L|PSG4_ENST00000244295.9_Silent_p.L107L	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	107	Ig-like V-type.				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)				TCTGGATCAGCAGGGATGCAT	0.443000													48	173					1.54886e-18	1.79152e-18	1	1	0
OXR1	55074	broad.mit.edu	37	8	107719292	107719292	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr8:107719292A>G	ENST00000445937.1	+	9	1804	c.1543A>G	c.(1543-1545)Aaa>Gaa	p.K515E	OXR1_ENST00000452423.2_Missense_Mutation_p.K5E|OXR1_ENST00000517566.2_Missense_Mutation_p.K515E|OXR1_ENST00000497705.1_Missense_Mutation_p.K448E|OXR1_ENST00000312046.6_Missense_Mutation_p.K508E|OXR1_ENST00000442977.2_Missense_Mutation_p.K516E|OXR1_ENST00000531443.1_Missense_Mutation_p.K515E	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	516					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)			GCAACAAACTAAACAGCAAAG	0.363000													3	55					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53586139	53586139	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:53586139G>A	ENST00000267082.5	-	14	2361	c.2130C>T	c.(2128-2130)gtC>gtT	p.V710V	ITGB7_ENST00000422257.3_Silent_p.V710V|ITGB7_ENST00000550743.2_Silent_p.V562V|ITGB7_ENST00000338737.4_Silent_p.V562V	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	710					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCTGAGCACGACCGTGCCTC	0.562000													11	32					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27409451	27409451	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:27409451C>G	ENST00000326799.3	-	14	1643	c.1495G>C	c.(1495-1497)Gac>Cac	p.D499H	YME1L1_ENST00000376016.3_Missense_Mutation_p.D442H|YME1L1_ENST00000375972.3_Missense_Mutation_p.D409H	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	499					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTGCATGTCAAAACGACCA	0.328000													28	57					0	0	1	0	0
TMEM106C	79022	broad.mit.edu	37	12	48359105	48359105	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:48359105T>A	ENST00000429772.2	+	3	341	c.228T>A	c.(226-228)gaT>gaA	p.D76E	TMEM106C_ENST00000552561.1_Missense_Mutation_p.D76E|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000256686.6_Missense_Mutation_p.D76E|TMEM106C_ENST00000550552.1_Missense_Mutation_p.D76E|TMEM106C_ENST00000449758.2_Missense_Mutation_p.D76E|TMEM106C_ENST00000549288.1_Intron	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	76						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CACACAGTGATCAGAGATTGC	0.423000													4	78					0	0	1	0	0
IFI35	3430	broad.mit.edu	37	17	41165209	41165209	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:41165209A>G	ENST00000415816.2	+	3	489	c.266A>G	c.(265-267)aAa>aGa	p.K89R	IFI35_ENST00000438323.2_Missense_Mutation_p.K89R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	89					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GATGACCCCAAAGGTAAGCTC	0.572000													27	68					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45508984	45508984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:45508984G>A	ENST00000359600.5	-	6	1721	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	506							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGATTATTCGCTGTAGGTGG	0.478000													21	101					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043923	71043923	+	Missense_Mutation	SNP	G	G	A	rs149379407		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:71043923G>A	ENST00000272367.2	-	4	666	c.590C>T	c.(589-591)aCg>aTg	p.T197M	CLEC4F_ENST00000426626.1_Missense_Mutation_p.T197M	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	197					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GAAATTCAGCGTCTGGAAAGT	0.428000													16	62					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726013	238726013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:238726013C>T	ENST00000316997.4	+	3	586	c.454C>T	c.(454-456)Caa>Taa	p.Q152*	RBM44_ENST00000409864.1_Nonsense_Mutation_p.Q152*|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	151							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TTTGGAACATCAAGATAAGAC	0.328000													9	4					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48736840	48736840	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr15:48736840G>C	ENST00000316623.5	-	49	6390	c.5935C>G	c.(5935-5937)Cta>Gta	p.L1979V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1979	EGF-like 34; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGGGTTCTAGAAGACATTCA	0.388000													11	45					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39644567	39644567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr8:39644567C>A	ENST00000265708.4	-	10	920	c.817G>T	c.(817-819)Gaa>Taa	p.E273*	ADAM2_ENST00000347580.4_Nonsense_Mutation_p.E254*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.E273*|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	273	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTTGACTTTTCTCTGTAACTT	0.274000													13	30					0.00185496	0.00189315	1	1	0
PCDHA13	56136	broad.mit.edu	37	5	140263626	140263626	+	Silent	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:140263626G>T	ENST00000289272.2	+	1	1773	c.1773G>T	c.(1771-1773)gtG>gtT	p.V591V	PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.V591V|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGTGGTGGCGAAGGTGC	0.701000													14	76					0.0202918	0.0204094	1	1	0
FBXW12	285231	broad.mit.edu	37	3	48422240	48422240	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:48422240C>A	ENST00000296438.5	+	8	1009	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	FBXW12_ENST00000415155.1_Missense_Mutation_p.L205M|FBXW12_ENST00000445170.1_Missense_Mutation_p.L256M|FBXW12_ENST00000436231.1_Missense_Mutation_p.L118M|FBXW12_ENST00000468158.1_3'UTR	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	275										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGTGTTCCTCTGTCTACCTT	0.478000													47	44					1.19451e-25	1.40032e-25	1	1	0
VTI1B	10490	broad.mit.edu	37	14	68118199	68118199	+	Splice_Site	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:68118199C>G	ENST00000554659.1	-	6	944		c.e6-1		ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B						cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		GGTTGTCACTCTACAAAGAGA	0.473000													15	19					0	0	1	0	0
DUSP5	1847	broad.mit.edu	37	10	112269920	112269920	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:112269920G>A	ENST00000369583.3	+	4	1175	c.891G>A	c.(889-891)agG>agA	p.R297R	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	297	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGCAGAGGAGGAGCATGGTCT	0.582000													22	22					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950569	198950569	+	Silent	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:198950569T>C	ENST00000428675.1	+	2	2726	c.2328T>C	c.(2326-2328)ccT>ccC	p.P776P	PLCL1_ENST00000437704.2_Silent_p.P678P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	776	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTGATAATCCTATTTTTGATG	0.393000													46	44					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57913883	57913883	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr15:57913883C>T	ENST00000574161.1	+	4	515	c.396C>T	c.(394-396)ctC>ctT	p.L132L	GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380569.2_Silent_p.L132L|GCOM1_ENST00000572390.1_Silent_p.L132L|GCOM1_ENST00000380568.3_Silent_p.L132L|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380560.2_Intron|MYZAP_ENST00000267853.5_Silent_p.L132L|POLR2M_ENST00000380563.2_Intron|MYZAP_ENST00000380565.4_Silent_p.L132L|GCOM1_ENST00000587652.1_Silent_p.L132L	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		132					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TTCGACAGCTCACCCAGGAAC	0.463000													27	44					0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44131011	44131011	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:44131011C>G	ENST00000222374.2	-	4	472	c.424G>C	c.(424-426)Gag>Cag	p.E142Q		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	142	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CAGCTGAGCTCCACCTCGCCG	0.662000													15	23					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076794	108076794	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:108076794G>T	ENST00000357759.5	+	6	1203	c.789G>T	c.(787-789)atG>atT	p.M263I	HHLA2_ENST00000491820.1_Missense_Mutation_p.M263I|HHLA2_ENST00000467562.1_Missense_Mutation_p.M199I|HHLA2_ENST00000467761.1_Missense_Mutation_p.M263I|HHLA2_ENST00000489514.2_Missense_Mutation_p.M263I	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	263	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGTCCAGAATGAAAAGTGGGA	0.383000													25	100					4.4004e-07	4.68386e-07	1	1	0
USO1	8615	broad.mit.edu	37	4	76703933	76703933	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:76703933G>A	ENST00000538159.1	+	9	783	c.783G>A	c.(781-783)atG>atA	p.M261I	USO1_ENST00000514213.2_Missense_Mutation_p.M244I			O60763	USO1_HUMAN	USO1 vesicle transport factor	259	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity	p.M261I(1)|p.M187I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCAACGTATGAAACCTTGGT	0.323000													7	9					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134048613	134048613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:134048613C>A	ENST00000534548.2	-	22	2762	c.2698G>T	c.(2698-2700)Gag>Tag	p.E900*		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	900					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCTGGGGCCTCACTGCTGCCT	0.507000													54	37					1.4709e-25	1.71853e-25	1	1	0
GNAO1	2775	broad.mit.edu	37	16	56377688	56377688	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr16:56377688C>A	ENST00000262494.7	+	8	1151	c.891C>A	c.(889-891)ttC>ttA	p.F297L	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	297					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)				CCAGCGCCTTCACAGAAGCCG	0.612000													6	9					0.217242	0.217242	1	1	0
C3P1	388503	broad.mit.edu	37	19	10163262	10163262	+	RNA	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:10163262C>T	ENST00000495140.1	+	0	1521																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GTACCCGACACGGAGGCGGAA	0.562000													12	48					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534524	50534524	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr15:50534524C>T	ENST00000267845.3	-	12	2324	c.1922G>A	c.(1921-1923)aGc>aAc	p.S641N	HDC_ENST00000543581.1_Missense_Mutation_p.S608N	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	641					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTCAGGAAAGCTGGGGACGCT	0.498000													17	63					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23913994	23913994	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr13:23913994G>A	ENST00000382298.3	-	10	4609	c.4021C>T	c.(4021-4023)Ctc>Ttc	p.L1341F	SACS_ENST00000382292.3_Missense_Mutation_p.L1341F|SACS_ENST00000402364.1_Missense_Mutation_p.L591F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1341					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCACTTTTGAGATATATCTTC	0.353000													21	28					0	0	1	0	0
STK25	10494	broad.mit.edu	37	2	242441050	242441050	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:242441050T>C	ENST00000316586.4	-	3	453	c.104A>G	c.(103-105)tAc>tGc	p.Y35C	STK25_ENST00000405585.1_Intron|STK25_ENST00000405883.3_Intron|STK25_ENST00000401869.1_Missense_Mutation_p.Y35C|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000403346.3_Missense_Mutation_p.Y35C	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	35	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GATGCCCTTGTAGACCTCCCC	0.597000													18	52					0	0	1	0	0
EPCAM	4072	broad.mit.edu	37	2	47606937	47606937	+	Missense_Mutation	SNP	G	G	C	rs13398742		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:47606937G>C	ENST00000263735.4	+	7	1045	c.687G>C	c.(685-687)aaG>aaC	p.K229N	EPCAM_ENST00000405271.1_Missense_Mutation_p.K257N	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	229					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						TTCATTCTAAGAAAATGGACC	0.343000													16	67					0	0	1	0	0
RPP25L	138716	broad.mit.edu	37	9	34611039	34611039	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr9:34611039G>A	ENST00000297613.4	-	2	535	c.255C>T	c.(253-255)acC>acT	p.T85T	RPP25L_ENST00000378959.4_Silent_p.T85T	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN	ribonuclease P/MRP 25kDa subunit-like	85							nucleic acid binding										AACGTAGCTTGGTGAGCTGGT	0.622000													15	32					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176664989	176664989	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:176664989G>A	ENST00000367662.3	+	7	3904	c.2740G>A	c.(2740-2742)Gct>Act	p.A914T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	914					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGAGGAGGCTGTGGGTAA	0.522000													9	75					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605472	13605472	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:13605472C>G	ENST00000040738.5	-	10	3187	c.3052G>C	c.(3052-3054)Gat>Cat	p.D1018H		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1018	Lys-rich.						DNA binding										TTGTGGCCATCTGACAACTTT	0.378000													86	145					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267727	124267727	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr8:124267727C>G	ENST00000395571.3	-	3	1077	c.460G>C	c.(460-462)Gat>Cat	p.D154H	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.D154H|ZHX1_ENST00000297857.2_Missense_Mutation_p.D154H	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	154					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAACTACCATCAAAAGTCAGA	0.333000													22	147					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100139	27100139	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:27100139C>A	ENST00000324856.7	+	16	4306	c.3935C>A	c.(3934-3936)tCc>tAc	p.S1312Y	ARID1A_ENST00000374152.2_Missense_Mutation_p.S929Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1312Y|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1312					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)		CTCATGCCTTCCAACCCAGAC	0.582000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								12	54					0.000219431	0.000226615	1	1	0
CUZD1	50624	broad.mit.edu	37	10	124594541	124594541	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:124594541G>C	ENST00000368904.1	-	9	2012	c.1063C>G	c.(1063-1065)Cgt>Ggt	p.R355G	CUZD1_ENST00000392790.1_Missense_Mutation_p.R355G|CUZD1_ENST00000545804.1_Missense_Mutation_p.R355G			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	355	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TGTTTCTGACGGGTGATCACT	0.343000													14	44					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688590	26688590	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr22:26688590G>A	ENST00000529632.2	+	2	509	c.313G>A	c.(313-315)Gag>Aag	p.E105K	SEZ6L_ENST00000404234.3_Missense_Mutation_p.E105K|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E105K|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E105K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E105K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	105						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCTGCTTCCAGAGGAGGCCCG	0.642000													17	8					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303043	6303043	+	Silent	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:6303043C>G	ENST00000226760.1	+	8	1691	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L	WFS1_ENST00000503569.1_Silent_p.L507L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	507					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CGTGCCTGCTCTATGTCTACC	0.567000													19	58					0	0	1	0	0
SSX7	280658	broad.mit.edu	37	X	52682477	52682477	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chrX:52682477G>C	ENST00000298181.5	-	2	204	c.46C>G	c.(46-48)Caa>Gaa	p.Q16E		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.Q16E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TCTGGTATTTGAGCACCAGCC	0.567000													118	60					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42171676	42171676	+	Silent	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr15:42171676C>G	ENST00000320955.6	-	16	3191	c.2964G>C	c.(2962-2964)ctG>ctC	p.L988L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	988					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTCCCTCTTCAGGGCCTCCA	0.627000													4	3					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112667636	112667636	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:112667636C>G	ENST00000550722.1	-	41	6342	c.5947G>C	c.(5947-5949)Gaa>Caa	p.E1983Q	HECTD4_ENST00000377560.5_Missense_Mutation_p.E1957Q|HECTD4_ENST00000430131.2_Missense_Mutation_p.E1707Q	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGAATGCTTTCTGCGTATTTC	0.478000													13	33					0	0	1	0	0
KRT16P1	729252	broad.mit.edu	37	17	18343801	18343801	+	RNA	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:18343801C>A	ENST00000581027.1	+	0	406																											ATAGTCCCTACTTCAAGACCA	0.552000													17	21					3.51602e-12	4.02659e-12	1	1	0
CUZD1	50624	broad.mit.edu	37	10	124594532	124594532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:124594532G>A	ENST00000368904.1	-	9	2021	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	CUZD1_ENST00000392790.1_Nonsense_Mutation_p.Q358*|CUZD1_ENST00000545804.1_Nonsense_Mutation_p.Q358*			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	358	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ATCTGGAGTTGTTTCTGACGG	0.368000													16	53					0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149238715	149238715	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:149238715G>C	ENST00000465804.1	-	8	1336	c.1080C>G	c.(1078-1080)ttC>ttG	p.F360L	WWTR1_ENST00000360632.3_Missense_Mutation_p.F360L|WWTR1_ENST00000467467.1_Missense_Mutation_p.F360L	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	360					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GACAGTCAAGGAAATCAGGGA	0.413000			T	CAMTA1	epitheliod hemangioendothelioma								28	140					0	0	1	0	0
PTPN20B	26095	broad.mit.edu	37	10	48771356	48771356	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:48771356G>T	ENST00000395668.1	-	6	571	c.299C>A	c.(298-300)cCa>cAa	p.P100Q	PTPN20B_ENST00000514592.1_Intron|PTPN20B_ENST00000512924.1_Intron|PTPN20B_ENST00000514491.1_Missense_Mutation_p.P172Q|PTPN20B_ENST00000374240.3_Missense_Mutation_p.P181Q|PTPN20B_ENST00000374235.2_Intron|PTPN20B_ENST00000502266.1_Missense_Mutation_p.P100Q|PTPN20B_ENST00000512321.1_Intron|PTPN20B_ENST00000395662.3_Missense_Mutation_p.P100Q|PTPN20B_ENST00000511387.1_Intron|PTPN20B_ENST00000374233.3_Missense_Mutation_p.P181Q|PTPN20B_ENST00000395660.2_Missense_Mutation_p.P153Q|PTPN20B_ENST00000509753.1_Missense_Mutation_p.P153Q|PTPN20B_ENST00000395661.3_Intron|PTPN20B_ENST00000509631.1_Missense_Mutation_p.P100Q|PTPN20B_ENST00000510840.1_Intron|PTPN20B_ENST00000331650.4_Missense_Mutation_p.P100Q|PTPN20B_ENST00000509230.1_Missense_Mutation_p.P172Q|PTPN20B_ENST00000515532.1_Missense_Mutation_p.P181Q|PTPN20B_ENST00000507417.1_Missense_Mutation_p.P153Q|PTPN20B_ENST00000395674.2_Intron|PTPN20B_ENST00000509544.1_Intron	NM_001042363.3	NP_001035822.1			protein tyrosine phosphatase, non-receptor type 20B											large_intestine(1)|lung(1)	2				Kidney(211;0.201)		TCTGTTGCTTGGTTGATTCCC	0.289000													16	33					4.26978e-12	4.87373e-12	1	1	0
OR4E2	26686	broad.mit.edu	37	14	22133302	22133302	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:22133302C>T	ENST00000408935.1	+	1	6	c.6C>T	c.(4-6)gaC>gaT	p.D2D		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATTGAATGGACAGTCTAAACC	0.343000													4	86					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18075496	18075496	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:18075496C>G	ENST00000205890.5	+	64	10580	c.10242C>G	c.(10240-10242)ttC>ttG	p.F3414L	MYO15A_ENST00000418233.3_Missense_Mutation_p.F678L|MYO15A_ENST00000451725.2_Missense_Mutation_p.S208W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3414	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TACCTATGTTCGGCTCCTCCT	0.577000													14	21					0	0	1	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417047	89417047	+	RNA	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:89417047C>T	ENST00000490686.1	-	0	163																											CTGACTTGCCCGGCAAGTGAT	0.507000													33	149					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56472872	56472872	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:56472872C>G	ENST00000370754.5	-	39	6454	c.6455G>C	c.(6454-6456)gGa>gCa	p.G2152A	DST_ENST00000361203.3_Missense_Mutation_p.G1974A|DST_ENST00000446842.2_Missense_Mutation_p.G1648A|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.G1974A|DST_ENST00000370769.4_Missense_Mutation_p.G1974A|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	1974					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTTCTTCTCCATCAAAAAC	0.348000													13	49					0	0	1	0	0
GPHB5	122876	broad.mit.edu	37	14	63779780	63779780	+	RNA	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:63779780G>A	ENST00000539258.1	-	0	310							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		TCTCGTTGTAGGTACAGACTC	0.507000													6	7					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33194476	33194476	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:33194476C>A	ENST00000309558.3	-	5	2065	c.1648G>T	c.(1648-1650)Ggt>Tgt	p.G550C		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	550					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACTTGCACCTGGCCCGGGG	0.582000													5	28					0.014758	0.0148867	1	1	0
COPS2	9318	broad.mit.edu	37	15	49426283	49426283	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr15:49426283C>G	ENST00000388901.5	-	8	811	c.738G>C	c.(736-738)ttG>ttC	p.L246F	COPS2_ENST00000299259.6_Missense_Mutation_p.L253F|COPS2_ENST00000542928.1_Missense_Mutation_p.L182F	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	246					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CACCTTCCCTCAAGTGCATTT	0.353000													4	49					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79768642	79768642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:79768642C>T	ENST00000338008.5	+	15	4267	c.4087C>T	c.(4087-4089)Cag>Tag	p.Q1363*	ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.Q1363*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.Q1363*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1363					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTTACGAGAACAGAAAGACTT	0.393000													9	51					0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342807	94342807	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:94342807C>G	ENST00000436063.2	-	2	741	c.684G>C	c.(682-684)caG>caC	p.Q228H	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TACCCACGATCTGTTTCTCAT	0.373000													27	108					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143570758	143570758	+	Silent	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr8:143570758C>T	ENST00000517894.1	+	16	3484	c.2590C>T	c.(2590-2592)Ctg>Ttg	p.L864L	BAI1_ENST00000323289.5_Silent_p.L864L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	864					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCTCGCTCCCTGCGCACACC	0.587000													51	54					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	652789	652789	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr4:652789G>A	ENST00000255622.6	+	11	1493	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	PDE6B_ENST00000496514.1_Missense_Mutation_p.E484K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E205K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	484					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGATGAGGACGAGCTGGGCGA	0.607000													6	27					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151711863	151711863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr7:151711863G>A	ENST00000392800.2	+	8	1415	c.1161G>A	c.(1159-1161)tgG>tgA	p.W387*	GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.W387*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	387						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TGCACGTTTGGCTGGATGAAT	0.468000													7	35					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161016488	161016488	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:161016488A>T	ENST00000447678.1	-	22	3487	c.3367T>A	c.(3367-3369)Tgg>Agg	p.W1123R	LPA_ENST00000316300.5_Missense_Mutation_p.W1123R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3631	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAGTACTCCCACCTGACACTG	0.507000													30	152					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101089	27101089	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:27101089C>G	ENST00000324856.7	+	18	4742	c.4371C>G	c.(4369-4371)ttC>ttG	p.F1457L	ARID1A_ENST00000374152.2_Missense_Mutation_p.F1074L|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1457					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)		AATTTCCATTCCAGTTTGGCC	0.577000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	55					0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23619308	23619308	+	Missense_Mutation	SNP	T	T	A	rs61731053		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr18:23619308T>A	ENST00000415083.2	-	6	775	c.720A>T	c.(718-720)caA>caT	p.Q240H	SS18_ENST00000539849.1_Missense_Mutation_p.Q158H|SS18_ENST00000545952.1_Missense_Mutation_p.Q188H|SS18_ENST00000269137.7_Missense_Mutation_p.Q240H|SS18_ENST00000542743.1_Missense_Mutation_p.Q188H|SS18_ENST00000542420.2_Missense_Mutation_p.Q217H	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	240	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TATGATTGCCTTGGTTAACTT	0.453000			T	"""SSX1,  SSX2"""	synovial sarcoma								18	150					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	47					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196883793	196883793	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:196883793C>A	ENST00000367416.2	+	8	1483	c.1346C>A	c.(1345-1347)aCa>aAa	p.T449K	CFHR4_ENST00000251424.4_Missense_Mutation_p.T203K|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Missense_Mutation_p.T203K	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CATTTCCCAACATGTTATAGT	0.328000													12	27					7.03913e-09	7.75421e-09	1	1	0
TNXB	7148	broad.mit.edu	37	6	32064745	32064745	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:32064745G>T	ENST00000375244.3	-	3	1086	c.885C>A	c.(883-885)tgC>tgA	p.C295*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.C295*|TNXB_ENST00000479795.1_Nonsense_Mutation_p.C295*			P22105	TENX_HUMAN	tenascin XB	295	EGF-like 5.				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						GGTTACACACGCAGCGCCCAT	0.682000													13	23					4.3838e-07	4.68055e-07	1	1	0
ASCL1	429	broad.mit.edu	37	12	103352695	103352695	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr12:103352695G>A	ENST00000266744.3	+	1	1232	c.673G>A	c.(673-675)Gag>Aag	p.E225K		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	225					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						GCTCAGCCCCGAGGAGCAGGA	0.602000													5	18					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45668950	45668950	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr21:45668950C>G	ENST00000270172.3	-	11	1437	c.954G>C	c.(952-954)caG>caC	p.Q318H	DNMT3L_ENST00000418993.1_Missense_Mutation_p.Q318H	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	318					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGACAGCATTCTGCAAGGATC	0.632000													5	8					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886634	47886634	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:47886634C>G	ENST00000396105.1	-	3	1961	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R572T|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R572T	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	572							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCGACATTTCTTAGAAATTC	0.483000													38	72					0	0	1	0	0
EIF6	3692	broad.mit.edu	37	20	33872139	33872139	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:33872139G>A	ENST00000374443.3	-	2	201	c.152C>T	c.(151-153)gCa>gTa	p.A51V	EIF6_ENST00000374436.3_Intron|EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374450.3_Intron	NM_181466.2	NP_852131.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	54					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTTGACTCCTGCGCACGCCTC	0.657000													46	89					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52514222	52514222	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr3:52514222C>T	ENST00000345716.4	+	13	1573	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L	NISCH_ENST00000479054.1_Missense_Mutation_p.S480L|NISCH_ENST00000488380.1_Missense_Mutation_p.S480L|NISCH_ENST00000420808.2_Missense_Mutation_p.S480L	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	480	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCCCGGCTCTCAGCTGCCCCC	0.632000													4	34					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104571731	104571731	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr14:104571731C>A	ENST00000551177.1	+	10	1209	c.1117C>A	c.(1117-1119)Cag>Aag	p.Q373K	ASPG_ENST00000455920.2_Missense_Mutation_p.Q373K|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000546892.2_Missense_Mutation_p.Q373K	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	373					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCCTCACTGCAGGGCAACAC	0.667000													5	14					0.000602214	0.000620084	1	1	0
SLC27A3	11000	broad.mit.edu	37	1	153748376	153748376	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:153748376C>T	ENST00000271857.2	+	1	1547	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	SLC27A3_ENST00000368661.3_Missense_Mutation_p.P182S|SLC27A3_ENST00000484014.1_Intron			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	182					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCGGGCAGCGCCGGGAGCCGG	0.751000													19	10					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16895715	16895715	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:16895715C>T	ENST00000430580.2	-	23	3354	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	823	NBPF 4.|Poly-Glu.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCCTCCTCTTCAGACTCCTGC	0.483000													38	287					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178769908	178769908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:178769908G>A	ENST00000286063.6	-	3	1395	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Nonsense_Mutation_p.Q110*|PDE11A_ENST00000449286.2_Nonsense_Mutation_p.Q2*|PDE11A_ENST00000409504.1_Nonsense_Mutation_p.Q2*	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.Q360K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AGATACATCTGCATAACCTGG	0.368000									Primary Pigmented Nodular Adrenocortical Disease, Familial				3	34					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3723036	3723036	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:3723036G>T	ENST00000254963.2	+	4	392	c.247G>T	c.(247-249)Gag>Tag	p.E83*	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	83							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CAGTGACCCTGAGGCCATCCA	0.592000													9	16					2.17888e-05	2.27048e-05	1	1	0
POU4F3	5459	broad.mit.edu	37	5	145719367	145719367	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:145719367C>A	ENST00000230732.4	+	2	466	c.377C>A	c.(376-378)aCg>aAg	p.T126K	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	126					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTCGCCCACGCTGAGTGTG	0.682000													4	20					0.150653	0.151089	1	1	0
UBR2	23304	broad.mit.edu	37	6	42658809	42658809	+	Silent	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:42658809G>A	ENST00000372899.1	+	47	5424	c.5166G>A	c.(5164-5166)aaG>aaA	p.K1722K	UBR2_ENST00000372901.1_Silent_p.K1722K|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1722					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGCGATTCAAGAAGATTCAGA	0.418000													27	43					0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31189069	31189069	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:31189069G>C	ENST00000373765.4	-	5	929	c.894C>G	c.(892-894)atC>atG	p.I298M	MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	298	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		CGATCTGACTGATGAACTTCT	0.587000													16	58					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10647851	10647851	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr11:10647851G>C	ENST00000547195.1	-	8	1257	c.757C>G	c.(757-759)Ctg>Gtg	p.L253V	MRVI1_ENST00000531107.1_Missense_Mutation_p.L336V|MRVI1_ENST00000534266.2_Missense_Mutation_p.L29V|MRVI1_ENST00000552103.1_Missense_Mutation_p.L253V|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.L29V|MRVI1_ENST00000527509.2_Missense_Mutation_p.L253V|MRVI1_ENST00000558540.1_Missense_Mutation_p.L29V|MRVI1_ENST00000423302.2_Missense_Mutation_p.L344V|MRVI1_ENST00000421747.1_Missense_Mutation_p.L335V|MRVI1_ENST00000424001.1_Missense_Mutation_p.L29V|MRVI1_ENST00000436272.1_Missense_Mutation_p.L317V	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	317					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTTCTCGGCAGAGGGCTGCCC	0.667000													3	8					0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35657156	35657156	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:35657156G>A	ENST00000342879.3	+	7	1193	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000588699.1_Missense_Mutation_p.E139K|FXYD5_ENST00000392217.3_Missense_Mutation_p.E68K|FXYD5_ENST00000541435.2_Missense_Mutation_p.E139K|FXYD5_ENST00000392219.2_Missense_Mutation_p.E139K|FXYD5_ENST00000423817.3_Missense_Mutation_p.E139K|FXYD5_ENST00000590686.1_Missense_Mutation_p.E139K|FXYD5_ENST00000543307.1_Missense_Mutation_p.E139K			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	139					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCTGCAGATGAACACACCCT	0.532000													67	173					0	0	1	0	0
NDUFAB1	4706	broad.mit.edu	37	16	23598533	23598533	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr16:23598533C>G	ENST00000570319.1	-	2	276	c.276G>C	c.(274-276)aaG>aaC	p.K92N	NDUFAB1_ENST00000007516.3_Missense_Mutation_p.K92N			O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa	92					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding			endometrium(1)|large_intestine(1)|lung(1)	3				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)	CTGGGTCAATCTTGTCATAGA	0.393000													37	38					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49027244	49027244	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr13:49027244A>G	ENST00000267163.4	+	18	1949	c.1811A>G	c.(1810-1812)gAt>gGt	p.D604G		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	604	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGCAGCAGATATGTAAGCA	0.348000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			14	30					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36269539	36269539	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:36269539C>T	ENST00000296604.3	-	4	706	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	RANBP3L_ENST00000515759.1_Missense_Mutation_p.R74Q|RANBP3L_ENST00000502994.1_Missense_Mutation_p.R74Q	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	74					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AGATGAAGACCGTACACGCTT	0.353000													18	96					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178990897	178990897	+	Silent	SNP	T	T	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:178990897T>G	ENST00000286070.5	+	9	1511	c.1419T>G	c.(1417-1419)acT>acG	p.T473T	RBM45_ENST00000464647.1_3'UTR	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	475					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GGCAAAGAACTTACTGATTCT	0.338000													4	47					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392947	178392947	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:178392947T>A	ENST00000320129.3	+	5	1845	c.1542T>A	c.(1540-1542)caT>caA	p.H514Q	ZNF454_ENST00000519564.1_Missense_Mutation_p.H514Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCATTCAGCATCAGAGACATC	0.383000													12	45					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18171674	18171674	+	Silent	SNP	T	T	G			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:18171674T>G	ENST00000388870.2	+	7	739	c.498T>G	c.(496-498)acT>acG	p.T166T	KDM1B_ENST00000397244.1_Silent_p.T166T|KDM1B_ENST00000297792.5_Silent_p.T166T|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	166					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TAGCCAAGACTTATCGATGCG	0.368000													8	98					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63991080	63991080	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:63991080C>A	ENST00000370658.5	-	4	409	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L	LGSN_ENST00000370657.4_Missense_Mutation_p.V126L	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	126					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTTGGTATCACTTCAAGATAA	0.368000													25	89					7.41945e-09	8.12161e-09	1	1	0
DPH1	1801	broad.mit.edu	37	17	1944476	1944476	+	Splice_Site	SNP	G	G	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:1944476G>A	ENST00000263083.6	+	10	1146		c.e10+1		DPH1_ENST00000570477.1_Splice_Site	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1						peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACCCTATGAGGTAACACCAAG	0.587000													6	7					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409739	80409739	+	Splice_Site	SNP	G	G	T			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:80409739G>T	ENST00000265080.4	+	15	2537	c.2470G>T	c.(2470-2472)Gca>Tca	p.A824S	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	824					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TATTCAAAAAGGTATTATCTA	0.468000													9	53					3.09899e-07	3.31897e-07	1	1	0
ADA	100	broad.mit.edu	37	20	43251678	43251678	+	Silent	SNP	C	C	A			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr20:43251678C>A	ENST00000372874.4	-	7	782	c.648G>T	c.(646-648)ggG>ggT	p.G216G	PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	216			G -> R (in ADASCID; severe; dbSNP:rs121908723).		adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	AGCCCACCTCCCCGGCGTGGA	0.652000									Adenosine Deaminase Deficiency				10	61					2.80697e-09	3.11189e-09	1	1	0
ZNF687	57592	broad.mit.edu	37	1	151260185	151260192	+	Frame_Shift_Del	DEL	TGCAACCT	TGCAACCT	-			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:151260185_151260192delTGCAACCT	ENST00000368879.2	+	2	1516_1523	c.1418_1425delTGCAACCT	c.(1417-1425)gtgcaacctfs	p.VQP473fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGTGATGGTGCAACCTTCAAAGACAG	0.611													7	99	---	---	---	---					
ARHGEF11	9826	broad.mit.edu	37	1	156911666	156911666	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr1:156911666delT	ENST00000368194.3	-	34	4481	c.3442delA	c.(3442-3444)acafs	p.T1148fs	ARHGEF11_ENST00000315174.8_Frame_Shift_Del_p.T524fs|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Frame_Shift_Del_p.T1108fs	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1108					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCTGGGTGTGGGGCCCTGC	0.662													7	71	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40392064	40392078	+	In_Frame_Del	DEL	TCTGCAATGCGCCTC	TCTGCAATGCGCCTC	-			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr2:40392064_40392078delTCTGCAATGCGCCTC	ENST00000406785.2	-	5	2166_2180	c.1977_1991delGAGGCGCATTGCAGA	c.(1975-1992)gagaggcgcattgcagaa>gaa	p.659_664ERRIAE>E	SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000403092.1_In_Frame_Del_p.695_700ERRIAE>E|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_In_Frame_Del_p.690_695ERRIAE>E|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000402441.1_In_Frame_Del_p.659_664ERRIAE>E|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542024.1_In_Frame_Del_p.659_664ERRIAE>E|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000405901.3_In_Frame_Del_p.690_695ERRIAE>E|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_In_Frame_Del_p.659_664ERRIAE>E|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000408028.2_In_Frame_Del_p.687_692ERRIAE>E|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_In_Frame_Del_p.695_700ERRIAE>E|SLC8A1_ENST00000406391.2_In_Frame_Del_p.659_664ERRIAE>E			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.E700fs*15(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCGCCCCATTTCTGCAATGCGCCTCTCCTCTTCCT	0.484													8	110	---	---	---	---					
CWC27	10283	broad.mit.edu	37	5	64070590	64070611	+	Frame_Shift_Del	DEL	AATTTTATCCAACTTTGTTTGG	AATTTTATCCAACTTTGTTTGG	-	rs150844528		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr5:64070590_64070611delAATTTTATCCAACTTTGTTTGG	ENST00000508024.1	+	2	316_337	c.115_136delAATTTTATCCAACTTTGTTTGG	c.(115-138)aattttatccaactttgtttggaafs	p.NFIQLCLE39fs	CWC27_ENST00000381070.3_Frame_Shift_Del_p.NFIQLCLE39fs			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	39	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCTTGCAGAAATTTTATCCAACTTTGTTTGGAAGGTATGTT	0.315													7	166	---	---	---	---					
EIF4EBP2P3	100190924	broad.mit.edu	37	6	98627404	98627404	+	RNA	DEL	C	C	-			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:98627404delC	ENST00000607823.1	+	0	352																											TGAGCATCATCCCCAACTGCG	0.443													4	7	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152653022	152653041	+	Splice_Site	DEL	AGATCTGAAAATACATGGAA	AGATCTGAAAATACATGGAA	-	rs9478314	by1000genomes	TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr6:152653022_152653041delAGATCTGAAAATACATGGAA	ENST00000367255.5	-	78	13396_13399	c.12795_12798delTTCCATGTATTTTCAGATCT	c.(12793-12798)agttcc>ag	p.SS4265fs	SYNE1_ENST00000423061.1_Splice_Site_p.SS4194fs|SYNE1_ENST00000341594.5_Splice_Site_p.SS4130fs|SYNE1_ENST00000265368.4_Splice_Site_p.SS4265fs|SYNE1_ENST00000448038.1_Splice_Site_p.SS4194fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4265					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTCTGCATCAGATCTGAAAATACATGGAAAGGTATAAGA	0.368										HNSCC(10;0.0054)			10	111	---	---	---	---					
SLC25A13	10165	broad.mit.edu	37	7	95820548	95820549	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr7:95820548_95820549insCC	ENST00000416240.2	-	7	816_817	c.626_627insGG	c.(625-627)ggtfs	p.G209fs	SLC25A13_ENST00000542654.1_Frame_Shift_Ins_p.G101fs|SLC25A13_ENST00000265631.5_Frame_Shift_Ins_p.G209fs	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	209					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGGATGTGGTACCTCCAGCAGC	0.337													10	59	---	---	---	---					
PABPC1	26986	broad.mit.edu	37	8	101721698	101721712	+	In_Frame_Del	DEL	CTGCCATGAAGTAAC	CTGCCATGAAGTAAC	-	rs146200489	byFrequency	TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr8:101721698_101721712delCTGCCATGAAGTAAC	ENST00000318607.5	-	8	2348_2362	c.1220_1234delGTTACTTCATGGCAG	c.(1219-1236)ggttacttcatggcagct>gct	p.GYFMA407del	PABPC1_ENST00000522387.1_In_Frame_Del_p.GYFMA375del|PABPC1_ENST00000519004.1_In_Frame_Del_p.GYFMA362del|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	407					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGTGGGATAGCTGCCATGAAGTAACCTGAAGGAGG	0.493													11	103	---	---	---	---					
IL15RA	3601	broad.mit.edu	37	10	5995066	5995066	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr10:5995066delG	ENST00000525219.2	-	7	982	c.688delC	c.(688-690)cacfs	p.H230fs	IL15RA_ENST00000379977.3_Frame_Shift_Del_p.H266fs|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000528354.1_Frame_Shift_Del_p.H233fs|IL15RA_ENST00000397248.2_Frame_Shift_Del_p.H230fs|IL15RA_ENST00000397251.3_Frame_Shift_Del_p.H201fs|IL15RA_ENST00000397250.2_Frame_Shift_Del_p.H168fs	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	266					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						TTTCATAGGTGGTGAGAGCAG	0.562													31	81	---	---	---	---					
BRCA2	675	broad.mit.edu	37	13	32913648	32913649	+	Frame_Shift_Ins	INS	-	-	T	rs80359488		TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr13:32913648_32913649insT	ENST00000544455.1	+	11	5383_5384	c.5156_5157insT	c.(5155-5160)aattcafs	p.S1720fs	BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.S1720fs	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1720					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATGAAAATAATTCAAACAGTA	0.297			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			27	40	---	---	---	---					
DNAAF1	123872	broad.mit.edu	37	16	84193300	84193300	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr16:84193300delA	ENST00000378553.5	+	6	886	c.762delA	c.(760-762)ggafs	p.G254fs	DNAAF1_ENST00000334315.5_Frame_Shift_Del_p.G254fs|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	254					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ATTTGATGGGAAACCCGGTTA	0.388													6	8	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29653188	29653188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr17:29653188delC	ENST00000358273.4	+	37	5569	c.5186delC	c.(5185-5187)gccfs	p.A1729fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.A1708fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1729	CRAL-TRIO.				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)		CTACCTGCTGCCACCTTGGCT	0.453			"""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)			31	58	---	---	---	---					
PRR12	57479	broad.mit.edu	37	19	50102836	50102836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr19:50102836delC	ENST00000418929.2	+	5	3998	c.3986delC	c.(3985-3987)accfs	p.T1329fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	508							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCCCTGCCACCCCTGCTGTG	0.706													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-ZF-A9RF-01A-11D-A38G-08	TCGA-ZF-A9RF-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a242bd46-7a96-4495-9ccb-9f7340bc047e	65373707-5247-4eff-a355-d69d11526052	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532													2	4	---	---	---	---					
