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
OR2AG2	338755	broad.mit.edu	37	11	6789736	6789736	+	Silent	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:6789736C>A	ENST00000338569.2	-	1	550	c.453G>T	c.(451-453)ctG>ctT	p.L151L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L151L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGGGATGCCAGGATCCAGG	0.512000													14	50					1.05317e-09	1.43094e-09	0.020292	1	0
TPO	7173	broad.mit.edu	37	2	1499849	1499849	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:1499849A>G	ENST00000345913.4	+	12	2186	c.2095A>G	c.(2095-2097)Act>Gct	p.T699A	TPO_ENST00000337415.3_Missense_Mutation_p.T699A|TPO_ENST00000329066.4_Missense_Mutation_p.T699A|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.T526A|TPO_ENST00000382198.1_Missense_Mutation_p.T526A|TPO_ENST00000382201.3_Missense_Mutation_p.T642A|TPO_ENST00000346956.3_Missense_Mutation_p.T699A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	699					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.T699A(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTGTGACAACACTGGCCTCAC	0.567000													4	31					0	0	0.014758	0	0
MTMR4	9110	broad.mit.edu	37	17	56573321	56573321	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr17:56573321T>G	ENST00000323456.5	-	16	2306	c.2182A>C	c.(2182-2184)Act>Cct	p.T728P	MTMR4_ENST00000579925.1_Missense_Mutation_p.T671P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	728						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.T728P(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTCCCTTAGTCTCTTCTAGG	0.493000													5	356					0	0	0.001984	0	0
RXRG	6258	broad.mit.edu	37	1	165398047	165398047	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:165398047G>T	ENST00000359842.5	-	2	508	c.206C>A	c.(205-207)cCa>cAa	p.P69Q		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	69	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.P69Q(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GACTCGATATGGAGAGCCCAG	0.607000													7	58					0.00307968	0.00339172	0.003080	1	0
CPSF6	11052	broad.mit.edu	37	12	69652445	69652445	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr12:69652445A>G	ENST00000435070.2	+	6	880	c.770A>G	c.(769-771)cAg>cGg	p.Q257R	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.Q294R|CPSF6_ENST00000456847.3_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	257	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	p.Q257R(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCTCCTGGTCAGGTTCTGCCT	0.567000													59	64					0	0	0.014410	0	0
PRKCB	5579	broad.mit.edu	37	16	23999883	23999883	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr16:23999883C>A	ENST00000303531.7	+	3	412	c.260C>A	c.(259-261)cCt>cAt	p.P87H	PRKCB_ENST00000321728.7_Missense_Mutation_p.P87H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	87					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.P87H(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTCTCCTGCCCTGGCGCTGAC	0.498000													30	94					3.90053e-15	5.80436e-15	0.012213	1	0
SMARCA4	6597	broad.mit.edu	37	19	11136141	11136141	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:11136141T>C	ENST00000358026.2	+	22	3409	c.3125T>C	c.(3124-3126)cTg>cCg	p.L1042P	SMARCA4_ENST00000444061.3_Missense_Mutation_p.L1042P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L1042P|SMARCA4_ENST00000429416.3_Missense_Mutation_p.L1042P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L1042P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L1042P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L1042P|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L1042P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L1042P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1042					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.L1042P(2)|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)				ATCATGCAGCTGCGGAAGATC	0.632000			"""F, N, Mis"""		NSCLC								19	27					0	0	0.008871	0	0
IFITM3	10410	broad.mit.edu	37	11	319883	319883	+	Silent	SNP	A	A	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:319883A>T	ENST00000399808.4	-	2	593	c.357T>A	c.(355-357)atT>atA	p.I119I	IFITM3_ENST00000526811.1_Silent_p.I98I|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Silent_p.I98I|RP11-326C3.11_ENST00000602756.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	119					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.I119I(1)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGATGAGCAGAATGGTCATGA	0.582000													7	58					0	0	0.003080	0	0
ZNF728	388523	broad.mit.edu	37	19	23159103	23159103	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:23159103C>T	ENST00000594710.1	-	4	1181	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AAGGCTTTGCCACATTCTTCA	0.413000													13	63					0	0	0.013537	0	0
KDM5A	5927	broad.mit.edu	37	12	420113	420113	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr12:420113C>T	ENST00000399788.2	-	21	3516	c.3154G>A	c.(3154-3156)Gca>Aca	p.A1052T	KDM5A_ENST00000382815.4_Missense_Mutation_p.A1052T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1052					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A1052T(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTCTCCATGCCCGTGCTGCT	0.483000			T	NUP98	AML								4	172					0	0	0.009096	0	0
CCDC57	284001	broad.mit.edu	37	17	80151979	80151979	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr17:80151979C>T	ENST00000392347.1	-	5	691	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	CCDC57_ENST00000389641.4_Missense_Mutation_p.E219K|CCDC57_ENST00000392343.3_Missense_Mutation_p.E219K	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	219								p.E219K(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GCCCCGGCTTCCTTCAGAGCC	0.532000													55	59					0	0	0.014410	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	73					0	0	0.009096	0	0
VN1R2	317701	broad.mit.edu	37	19	53762797	53762797	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:53762797A>G	ENST00000341702.3	+	1	1253	c.1169A>G	c.(1168-1170)cAt>cGt	p.H390R	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	390					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.H390R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CGATTCTTTCATGATTTCAGG	0.443000													32	67					0	0	0.010818	0	0
EIF2D	1939	broad.mit.edu	37	1	206772426	206772426	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:206772426C>T	ENST00000271764.2	-	11	1431	c.1223G>A	c.(1222-1224)gGc>gAc	p.G408D	EIF2D_ENST00000367114.3_Missense_Mutation_p.G284D	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	408					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	p.G408D(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GACCTCACTGCCCTCCAGAAA	0.498000													11	71					0	0	0.008291	0	0
PTPRF	5792	broad.mit.edu	37	1	44069145	44069145	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:44069145A>C	ENST00000359947.4	+	15	2739	c.2399A>C	c.(2398-2400)tAt>tCt	p.Y800S	PTPRF_ENST00000372414.3_Missense_Mutation_p.Y800S|PTPRF_ENST00000422171.2_Missense_Mutation_p.Y148S|PTPRF_ENST00000372413.3_Missense_Mutation_p.Y791S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.Y791S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	800	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.Y790S(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTGCTGCCTATACCACCAAG	0.592000													18	63					0	0	0.007413	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431534	56431534	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:56431534G>T	ENST00000302969.2	+	1	397	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCGTTTTGTGGCCATTTGTCG	0.512000													20	176					4.16121e-05	4.97753e-05	0.016522	1	0
F2	2147	broad.mit.edu	37	11	46750358	46750358	+	Silent	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:46750358G>T	ENST00000311907.5	+	11	1499	c.1443G>T	c.(1441-1443)gtG>gtT	p.V481V	F2_ENST00000530231.1_Intron	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	481	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.V481V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TTCACCCTGTGTGTCTGCCCG	0.582000													21	68					7.33628e-21	1.1535e-20	0.014323	1	0
CLCN1	1180	broad.mit.edu	37	7	143018931	143018931	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr7:143018931T>C	ENST00000343257.2	+	5	773	c.686T>C	c.(685-687)gTg>gCg	p.V229A	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	229					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.V229A(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGCATCCCCGTGGGGAAAGAG	0.597000													11	26					0	0	0.008291	0	0
SPON1	10418	broad.mit.edu	37	11	14287127	14287127	+	RNA	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:14287127G>A	ENST00000310358.7	+	0	2853				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.G772E(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TGCGGAGGTGGAATTCAGGAA	0.493000													3	20					0	0	0.004672	0	0
NPAP1	23742	broad.mit.edu	37	15	24924229	24924229	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:24924229G>A	ENST00000329468.2	+	1	3689	c.3215G>A	c.(3214-3216)gGg>gAg	p.G1072E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.G1072E(1)									GCACCACAAGGGGCTAGCAAC	0.542000													15	74					0	0	0.003163	0	0
GPI	2821	broad.mit.edu	37	19	34868453	34868453	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:34868453A>G	ENST00000356487.5	+	5	689	c.448A>G	c.(448-450)Acg>Gcg	p.T150A	GPI_ENST00000415930.3_Intron|GPI_ENST00000586425.1_Missense_Mutation_p.T150A	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	150					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	p.T150A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CAAGACCATCACGGACGTCAT	0.607000													20	60					0	0	0.016522	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997537	146997537	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr5:146997537C>A	ENST00000265272.5	-	19	2750	c.2283G>T	c.(2281-2283)aaG>aaT	p.K761N	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.K719N|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.K740N	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	761						Golgi apparatus		p.K761N(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCTCTGCTCTTCCTCAGCA	0.463000													19	80					1.45105e-14	2.1339e-14	0.006122	1	0
NRSN1	140767	broad.mit.edu	37	6	24146171	24146171	+	Silent	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:24146171C>T	ENST00000378491.4	+	4	886	c.585C>T	c.(583-585)acC>acT	p.T195T		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	195					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.T195T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TACTGGCAACCTGAAACCTTT	0.498000													7	104					0	0	0.004482	0	0
CASP1	834	broad.mit.edu	37	11	104901057	104901057	+	Splice_Site	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:104901057C>A	ENST00000533400.1	-	5	662	c.627_splice	c.e5+1	p.S209_splice	CASP1_ENST00000446369.1_Splice_Site_p.S116_splice|CASP1_ENST00000534497.1_Splice_Site_p.S116_splice|CASP1_ENST00000528974.1_Splice_Site_p.S170_splice|CASP1_ENST00000393136.4_Splice_Site_p.S188_splice|CASP1_ENST00000593315.1_Splice_Site_p.S188_splice|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000594519.1_Splice_Site_p.S116_splice|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Splice_Site_p.S209_splice|CASP1_ENST00000527979.1_Splice_Site_p.S172_splice|CASP1_ENST00000436863.3_Splice_Site_p.S209_splice|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000525825.1_Splice_Site_p.S188_splice|CASP1_ENST00000526568.1_Splice_Site_p.S116_splice	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	209					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.S209S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TAGAACTTACCGAAGCAGTGA	0.378000													17	78					3.45872e-05	4.19747e-05	0.004007	1	0
SULT6B1	391365	broad.mit.edu	37	2	37406711	37406711	+	Missense_Mutation	SNP	C	C	T	rs11569744	byFrequency	TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:37406711C>T	ENST00000535679.1	-	4	418	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.R102Q|SULT6B1_ENST00000407963.1_Missense_Mutation_p.R102Q			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	140						cytoplasm	sulfotransferase activity	p.R102>?(1)|p.R102Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TTTAGGGTTTCGAAATATCAC	0.358000													33	65					0	0	0.012213	0	0
CYP19A1	1588	broad.mit.edu	37	15	51503033	51503033	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:51503033C>T	ENST00000396402.1	-	10	1637	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	CYP19A1_ENST00000396404.4_Missense_Mutation_p.R495K|CYP19A1_ENST00000260433.2_Missense_Mutation_p.R495K|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R495K|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	495					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.R495K(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTCTGAGTTTCTTGGGGTAAA	0.448000													41	133					0	0	0.010771	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880730	142880730	+	Silent	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr7:142880730C>A	ENST00000446620.1	+	1	219	c.219C>A	c.(217-219)ggC>ggA	p.G73G		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	73					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.G73G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CCACAAGTGGCAGGATCCTGG	0.403000													55	61					4.1673e-28	6.85412e-28	0.014410	1	0
ERO1L	30001	broad.mit.edu	37	14	53133133	53133133	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr14:53133133A>T	ENST00000395686.3	-	7	812	c.589T>A	c.(589-591)Tgg>Agg	p.W197R		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	197					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	p.W197R(1)	ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					CATATTTTCCAAGCATCTGGT	0.338000													4	21					0	0	0.009096	0	0
OR51A2	401667	broad.mit.edu	37	11	4976475	4976475	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:4976475G>C	ENST00000380371.1	-	1	468	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L157V(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAAGAACCAGGAGCATGCTC	0.433000													39	51					0	0	0.021022	0	0
SYT15	83849	broad.mit.edu	37	10	46968629	46968629	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr10:46968629G>A	ENST00000374323.3	-	2	1053	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	SYT15_ENST00000374325.3_Missense_Mutation_p.P103S|SYT15_ENST00000374321.4_Missense_Mutation_p.P103S|SYT15_ENST00000503753.1_Missense_Mutation_p.P103S			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	103	C2 1.					integral to membrane|plasma membrane		p.P103S(2)|p.P155S(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCCGGGCAGGGGTCCCATGGG	0.682000													5	53					0	0	0.014758	0	0
SYNE1	23345	broad.mit.edu	37	6	152605151	152605151	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:152605151T>A	ENST00000367255.5	-	96	18770	c.18169A>T	c.(18169-18171)Atc>Ttc	p.I6057F	SYNE1_ENST00000265368.4_Missense_Mutation_p.I6057F|SYNE1_ENST00000448038.1_Missense_Mutation_p.I5986F|SYNE1_ENST00000341594.5_Missense_Mutation_p.I5669F|SYNE1_ENST00000423061.1_Missense_Mutation_p.I5986F|SYNE1_ENST00000356820.4_Missense_Mutation_p.I581F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6057					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	p.I6057F(2)|p.I5986F(1)		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)		TTCATCCTGATGGTGGACATT	0.532000										HNSCC(10;0.0054)			15	62					0	0	0.004990	0	0
ARMC5	79798	broad.mit.edu	37	16	31476170	31476170	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr16:31476170G>A	ENST00000457010.2	+	4	2527	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H	ARMC5_ENST00000538189.1_Missense_Mutation_p.R641H|ARMC5_ENST00000268314.4_Missense_Mutation_p.R609H|ARMC5_ENST00000412665.2_Missense_Mutation_p.R253H|ARMC5_ENST00000563544.1_Missense_Mutation_p.R609H|ARMC5_ENST00000408912.3_Missense_Mutation_p.R704H	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	609							binding	p.R609H(1)|p.R704H(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGGCACCACGTGCCCGGCCC	0.701000													5	9					0	0	0.014758	0	0
RTN1	6252	broad.mit.edu	37	14	60193922	60193922	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr14:60193922C>T	ENST00000267484.5	-	3	1815	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	494					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.A494T(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCATCCAGGGCGCTGGGCTTC	0.711000													3	9					0	0	0.004672	0	0
CCKBR	887	broad.mit.edu	37	11	6291371	6291371	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:6291371T>A	ENST00000525462.1	+	3	460	c.457T>A	c.(457-459)Tac>Aac	p.Y153N	CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.Y153N|CCKBR_ENST00000532715.1_Missense_Mutation_p.Y69N			P32239	GASR_HUMAN	cholecystokinin B receptor	139					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.Y153N(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACTGGAGCGGTACAGCGCCAT	0.597000													9	40					0	0	0.006214	0	0
HDGFL1	154150	broad.mit.edu	37	6	22569816	22569816	+	Silent	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:22569816C>T	ENST00000510882.2	+	1	22	c.12C>T	c.(10-12)taC>taT	p.Y4Y	HDGFL1_ENST00000230012.3_Silent_p.Y4Y			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	4								p.Y4Y(1)		kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TGTCGGCCTACGGCATGCCCA	0.647000													12	36					0	0	0.013537	0	0
CARS	833	broad.mit.edu	37	11	3059360	3059360	+	Missense_Mutation	SNP	C	C	T	rs12796489	byFrequency	TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:3059360C>T	ENST00000397114.3	-	7	818	c.442G>A	c.(442-444)Gca>Aca	p.A148T	CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000397111.5_Missense_Mutation_p.A158T|CARS_ENST00000401769.3_Missense_Mutation_p.A171T|CARS_ENST00000278224.9_Missense_Mutation_p.A158T|CARS_ENST00000380525.4_Missense_Mutation_p.A241T			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	158					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	p.A241T(1)|p.A158T(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	AGCTGCACTGCGTGCTGAATC	0.483000			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	83					0	0	0.014323	0	0
MAST3	23031	broad.mit.edu	37	19	18235123	18235123	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:18235123G>C	ENST00000262811.5	+	9	805	c.805G>C	c.(805-807)Gtc>Ctc	p.V269L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	269							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.V291L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGTCCAGCTTGTCCGGAAACT	0.602000													3	8					0	0	0.004672	0	0
NEBL	10529	broad.mit.edu	37	10	21101768	21101768	+	Silent	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr10:21101768G>A	ENST00000377122.4	-	24	2844	c.2448C>T	c.(2446-2448)gtC>gtT	p.V816V	NEBL_ENST00000377159.4_Silent_p.V119V|NEBL_ENST00000417816.2_Silent_p.V153V	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	816					regulation of actin filament length		actin binding|structural constituent of muscle	p.V816V(1)|p.V153V(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGCATCGCTGACCACCTGGG	0.512000													15	52					0	0	0.003163	0	0
F13A1	2162	broad.mit.edu	37	6	6167695	6167695	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:6167695A>T	ENST00000264870.3	-	13	2169	c.1904T>A	c.(1903-1905)aTc>aAc	p.I635N		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	635					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.I635N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACTGACCTTGATGATGATCTC	0.498000													22	77					0	0	0.016522	0	0
SLC19A3	80704	broad.mit.edu	37	2	228567010	228567010	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:228567010T>G	ENST00000258403.3	-	2	96	c.25A>C	c.(25-27)Agc>Cgc	p.S9R	SLC19A3_ENST00000541617.1_5'UTR|SLC19A3_ENST00000409287.1_Missense_Mutation_p.S9R	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	9					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.S9R(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAGGAACTGCTTAGTGAAGTT	0.393000													20	48					0	0	0.008871	0	0
OTUD7A	161725	broad.mit.edu	37	15	31819480	31819480	+	Silent	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:31819480C>A	ENST00000382902.1	-	5	776	c.684G>T	c.(682-684)gtG>gtT	p.V228V	OTUD7A_ENST00000307050.4_Silent_p.V228V			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	228	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.V228V(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTTTCCGTAACACCAGGTCCC	0.567000													33	122					1.61788e-16	2.46628e-16	0.012213	1	0
LTF	4057	broad.mit.edu	37	3	46490396	46490396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr3:46490396G>T	ENST00000231751.4	-	9	1465	c.1170C>A	c.(1168-1170)tgC>tgA	p.C390*	LTF_ENST00000417439.1_Nonsense_Mutation_p.C390*|LTF_ENST00000426532.2_Nonsense_Mutation_p.C346*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	390	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.C390*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGGCCGAGGAGCAGGTCACGC	0.692000													13	21					4.3838e-07	5.5632e-07	0.016723	1	0
UNC13B	10497	broad.mit.edu	37	9	35377536	35377536	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr9:35377536C>A	ENST00000378495.3	+	15	1882	c.1660C>A	c.(1660-1662)Cgc>Agc	p.R554S	UNC13B_ENST00000396787.1_Missense_Mutation_p.R566S|UNC13B_ENST00000378496.4_Missense_Mutation_p.R554S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	554					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.R554S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CATGAAGGACCGCATGAAGAT	0.502000													4	58					0.00909568	0.00975931	0.009096	1	0
HCLS1	3059	broad.mit.edu	37	3	121351229	121351229	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr3:121351229T>G	ENST00000314583.3	-	12	1281	c.1190A>C	c.(1189-1191)tAt>tCt	p.Y397S	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.Y360S	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	397					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.Y397S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CACCTCCTCATAGTCCCCCTC	0.562000													61	199					0	0	0.014410	0	0
CRB1	23418	broad.mit.edu	37	1	197404356	197404356	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:197404356G>T	ENST00000367397.1	+	5	2364	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	CRB1_ENST00000544212.1_Missense_Mutation_p.Q602H|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1097H|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.Q1121H|CRB1_ENST00000367399.2_Missense_Mutation_p.Q1009H			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1121	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1121_E1122>H*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATAAACCTCAGGAAGAGCAAT	0.398000													23	60					3.62473e-10	4.95182e-10	0.012319	1	0
CCPG1	9236	broad.mit.edu	37	15	55653056	55653056	+	Silent	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:55653056T>A	ENST00000310958.6	-	8	1213	c.915A>T	c.(913-915)acA>acT	p.T305T	CCPG1_ENST00000442196.3_Silent_p.T305T|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Silent_p.T305T|CCPG1_ENST00000425574.3_Silent_p.T305T	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	305	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane		p.T305T(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		ACTGATTTTCTGTAGCAAGGT	0.343000													23	51					0	0	0.012319	0	0
YLPM1	56252	broad.mit.edu	37	14	75279475	75279475	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr14:75279475G>A	ENST00000325680.7	+	11	5616	c.5492G>A	c.(5491-5493)aGa>aAa	p.R1831K	YLPM1_ENST00000552421.1_Missense_Mutation_p.R1125K|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1636K	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.R1636K(1)|p.R1831K(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CGGGAGAGCAGACCTGAGAGA	0.458000													7	21					0	0	0.006214	0	0
PRSS1	5644	broad.mit.edu	37	7	142458502	142458502	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr7:142458502A>T	ENST00000486171.1	+	2	154	c.137A>T	c.(136-138)cAc>cTc	p.H46L	PRSS1_ENST00000311737.7_Missense_Mutation_p.H46L			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	46	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.H46L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCTGGCTACCACTTCTGTGGT	0.562000													59	94					0	0	0.014410	0	0
NPC1	4864	broad.mit.edu	37	18	21119878	21119878	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr18:21119878C>A	ENST00000269228.5	-	18	3246	c.2692G>T	c.(2692-2694)Gac>Tac	p.D898Y	NPC1_ENST00000412552.2_Missense_Mutation_p.D580Y|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	898					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.D898Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGTGTAGTCGTGCCCTTCC	0.522000													16	59					3.52763e-06	4.36588e-06	0.004990	1	0
MAML3	55534	broad.mit.edu	37	4	140640665	140640665	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr4:140640665G>A	ENST00000509479.2	-	5	4085	c.3229C>T	c.(3229-3231)Cca>Tca	p.P1077S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	1073					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.P1077S(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGGCTGCTTGGAGCAAAGCTG	0.622000													8	30					0	0	0.008291	0	0
DNAH3	55567	broad.mit.edu	37	16	21156636	21156636	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr16:21156636C>T	ENST00000261383.3	-	3	313	c.314G>A	c.(313-315)gGa>gAa	p.G105E	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.G105E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	105	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G105E(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCACTGGGTCCACGGTGGTG	0.542000													14	50					0	0	0.020292	0	0
NARS	4677	broad.mit.edu	37	18	55269675	55269675	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr18:55269675G>A	ENST00000256854.5	-	13	1882	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L	NARS_ENST00000423481.2_Missense_Mutation_p.S227L	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	476					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	p.S476L(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GATACGCATTGAGCCTCCCAC	0.413000													7	37					0	0	0.003080	0	0
CMTM7	112616	broad.mit.edu	37	3	32483336	32483336	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr3:32483336C>A	ENST00000334983.5	+	2	400	c.164C>A	c.(163-165)aCc>aAc	p.T55N	CMTM7_ENST00000349718.4_Missense_Mutation_p.T55N	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	55	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity	p.T55N(1)		endometrium(1)|large_intestine(1)|lung(2)	4						TGGCAGGTCACCCTGCTGATT	0.522000													4	105					0.00909568	0.00975931	0.009096	1	0
FHL1	2273	broad.mit.edu	37	X	135290072	135290072	+	Silent	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chrX:135290072G>T	ENST00000543669.1	+	4	1164	c.453G>T	c.(451-453)gtG>gtT	p.V151V	FHL1_ENST00000394155.2_Silent_p.V151V|FHL1_ENST00000370676.3_Silent_p.V167V|FHL1_ENST00000370690.3_Silent_p.V151V|FHL1_ENST00000345434.3_Silent_p.V151V|FHL1_ENST00000539015.1_Silent_p.V180V|FHL1_ENST00000535737.1_Silent_p.V151V|FHL1_ENST00000370683.1_Silent_p.V167V|FHL1_ENST00000394153.2_Silent_p.V151V	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	151	LIM zinc-binding 2.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	p.V151V(2)|p.V180V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TCTACTGCGTGACTTGCCATG	0.493000													20	36					9.95505e-16	1.49925e-15	0.014323	1	0
CHD8	57680	broad.mit.edu	37	14	21876961	21876961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr14:21876961C>T	ENST00000399982.2	-	11	2452	c.2388G>A	c.(2386-2388)tgG>tgA	p.W796*	CHD8_ENST00000557364.1_Nonsense_Mutation_p.W796*|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Nonsense_Mutation_p.W517*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	796					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.W796*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCAATTTCTTCCAGGCACTTG	0.378000													3	13					0	0	0.004672	0	0
RYR3	6263	broad.mit.edu	37	15	33920772	33920772	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:33920772G>T	ENST00000389232.4	+	21	2745	c.2675G>T	c.(2674-2676)gGc>gTc	p.G892V	RYR3_ENST00000415757.3_Missense_Mutation_p.G892V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	892	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G892V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGACTTTCGGCAAGGTATGT	0.473000													14	50					0.00185496	0.00209837	0.016723	1	0
SLC39A12	221074	broad.mit.edu	37	10	18280171	18280171	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr10:18280171G>T	ENST00000377369.2	+	8	1634	c.1361G>T	c.(1360-1362)gGc>gTc	p.G454V	SLC39A12_ENST00000539911.1_Missense_Mutation_p.G320V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G454V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G454V	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	454					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.G454V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTAATTGGAGGCATCCATGGA	0.353000													20	78					5.03518e-11	7.03238e-11	0.007413	1	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249653	71249653	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:71249653G>T	ENST00000398534.3	+	1	583	c.552G>T	c.(550-552)caG>caT	p.Q184H		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	184						extracellular region|keratin filament	structural constituent of epidermis	p.Q184H(1)		cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TTTGCTGCCAGTGCAAGATCT	0.562000													37	142					1.42033e-22	2.26168e-22	0.019004	1	0
HLX	3142	broad.mit.edu	37	1	221055563	221055563	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:221055563C>T	ENST00000366903.6	+	3	2331	c.830C>T	c.(829-831)tCa>tTa	p.S277L	HLX_ENST00000549319.1_Missense_Mutation_p.S63L	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	277					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S277L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGGAAGCGTTCATGGTCGCGC	0.572000													17	37					0	0	0.006122	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41442419	41442419	+	RNA	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:41442419C>T	ENST00000599198.1	+	0	511					NR_001278.1													p.L153L(1)		NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GGCTCAGTGTCTGATAGAGGA	0.542000													5	17					0	0	0.014758	0	0
FCGBP	8857	broad.mit.edu	37	19	40420130	40420130	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:40420130G>A	ENST00000221347.6	-	6	2871	c.2864C>T	c.(2863-2865)gCa>gTa	p.A955V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	955	VWFD 2.					extracellular region	protein binding	p.A955V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCATCTGCTGCTTGGAAGGG	0.572000													4	51					0	0	0.001168	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900216	151900216	+	Silent	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chrX:151900216G>T	ENST00000393900.3	-	3	938	c.585C>A	c.(583-585)atC>atA	p.I195I	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.I195I|MAGEA12_ENST00000393869.3_Silent_p.I195I	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	195	MAGE.							p.I195I(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCACGATCTGATTGT	0.577000													57	100					1.4374e-25	2.33344e-25	0.014410	1	0
STX3	6809	broad.mit.edu	37	11	59559626	59559626	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:59559626A>G	ENST00000535361.1	+	6	951	c.404A>G	c.(403-405)aAt>aGt	p.N135S	STX3_ENST00000529177.1_Missense_Mutation_p.N135S|STX3_ENST00000437946.2_Missense_Mutation_p.N38S|STX3_ENST00000337979.4_Missense_Mutation_p.N135S|STX3_ENST00000300150.7_Missense_Mutation_p.N104S			Q13277	STX3_HUMAN	syntaxin 3	135					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity	p.N135S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ACCAAATACAATGAAGCTCAA	0.493000													8	27					0	0	0.006214	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343154	69343154	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr4:69343154G>T	ENST00000305363.4	+	8	839	c.775G>T	c.(775-777)Ggt>Tgt	p.G259C		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	259	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G259C(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AATGAAACGGGGTCTCCGGAG	0.388000													41	243					2.42038e-35	4.1163e-35	0.007835	1	0
MRGPRX4	117196	broad.mit.edu	37	11	18195148	18195148	+	Silent	SNP	C	C	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:18195148C>G	ENST00000314254.3	+	1	765	c.345C>G	c.(343-345)gcC>gcG	p.A115A	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	115						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A115A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGCTGAGCGCCATCAGCACCG	0.577000													19	121					0	0	0.007413	0	0
NFASC	23114	broad.mit.edu	37	1	204943942	204943942	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:204943942G>A	ENST00000367172.4	+	14	1877	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	NFASC_ENST00000367171.4_Missense_Mutation_p.E517K|NFASC_ENST00000401399.1_Missense_Mutation_p.E517K|NFASC_ENST00000338515.6_Missense_Mutation_p.E517K|NFASC_ENST00000367169.4_Missense_Mutation_p.E517K|NFASC_ENST00000403080.1_Missense_Mutation_p.E517K|NFASC_ENST00000367170.4_Missense_Mutation_p.E517K|NFASC_ENST00000360049.4_Missense_Mutation_p.E528K|NFASC_ENST00000404907.1_Missense_Mutation_p.E528K|NFASC_ENST00000539706.1_Missense_Mutation_p.E528K|NFASC_ENST00000339876.6_Missense_Mutation_p.E517K|NFASC_ENST00000338586.6_Missense_Mutation_p.E517K|NFASC_ENST00000513543.1_Missense_Mutation_p.E528K|NFASC_ENST00000404076.1_Missense_Mutation_p.E511K			O94856	NFASC_HUMAN	neurofascin	517	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.E517K(2)|p.E528K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGTCCGCCTGGAGGTCAAAGG	0.512000													18	54					0	0	0.006122	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529683	80529683	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:80529683T>C	ENST00000295057.3	-	2	1918	c.1262A>G	c.(1261-1263)aAc>aGc	p.N421S	LRRTM1_ENST00000409148.1_Missense_Mutation_p.N421S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	421						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.N421S(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTGCACGGCGTTCTCGGCGTG	0.662000										HNSCC(69;0.2)			12	28					0	0	0.010729	0	0
MDN1	23195	broad.mit.edu	37	6	90472078	90472078	+	Silent	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:90472078G>A	ENST00000369393.3	-	16	2431	c.2316C>T	c.(2314-2316)caC>caT	p.H772H	MDN1_ENST00000428876.1_Silent_p.H772H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	772					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.H772H(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGCAGACTTGTGTACATGCT	0.468000													22	122					0	0	0.016522	0	0
DUSP16	80824	broad.mit.edu	37	12	12630062	12630062	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr12:12630062G>A	ENST00000228862.2	-	7	2334	c.1703C>T	c.(1702-1704)tCt>tTt	p.S568F	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	568					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.S568F(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGCTGAGGCAGAGTAGAAGTG	0.592000													36	162					0	0	0.019004	0	0
CHPF2	54480	broad.mit.edu	37	7	150934520	150934520	+	Missense_Mutation	SNP	G	G	A	rs139006025	byFrequency	TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr7:150934520G>A	ENST00000035307.2	+	4	2585	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	CHPF2_ENST00000495645.1_Missense_Mutation_p.V350I	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	358						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.V358I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GAGCTGGCCCGTTGGGCTCCC	0.622000													6	86					0	0	0.001168	0	0
JAK1	3716	broad.mit.edu	37	1	65300251	65300251	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:65300251T>A	ENST00000342505.4	-	25	3707	c.3459A>T	c.(3457-3459)ttA>ttT	p.L1153F		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1153	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.L1153F(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTTCTTATTTTAAAAGTGCTT	0.328000			Mis		ALL								4	48					0	0	0.009096	0	0
WAPAL	23063	broad.mit.edu	37	10	88227091	88227091	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr10:88227091A>G	ENST00000298767.5	-	9	2787	c.2315T>C	c.(2314-2316)aTc>aCc	p.I772T	WAPAL_ENST00000263070.7_Missense_Mutation_p.I39T|WAPAL_ENST00000372075.1_Missense_Mutation_p.I39T	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	772	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	p.I772T(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GAGCCTTCGGATTTTTTCTTT	0.368000													18	82					0	0	0.010504	0	0
OR5J2	282775	broad.mit.edu	37	11	55944199	55944199	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:55944199G>T	ENST00000312298.1	+	1	106	c.106G>T	c.(106-108)Gcc>Tcc	p.A36S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A36S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GGTGATTTACGCCATTACCTT	0.393000													26	131					3.01185e-09	4.02654e-09	0.021523	1	0
CCDC102B	79839	broad.mit.edu	37	18	66504350	66504350	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr18:66504350G>T	ENST00000360242.5	+	2	467	c.350G>T	c.(349-351)aGg>aTg	p.R117M	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.R117M|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R117M|CCDC102B_ENST00000584156.1_Missense_Mutation_p.R117M	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	117								p.R117M(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AACAGTGCCAGGGAGGAAGGA	0.463000													9	57					0.000274275	0.000318925	0.004482	1	0
SERPINB13	5275	broad.mit.edu	37	18	61264451	61264451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr18:61264451G>T	ENST00000344731.5	+	8	1132	c.1030G>T	c.(1030-1032)Gag>Tag	p.E344*	SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.E292*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	344					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.E344*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGAAGGCACCGAGGCTGCAGC	0.542000													9	47					1.12685e-05	1.37421e-05	0.004482	1	0
PCDH15	65217	broad.mit.edu	37	10	55943219	55943219	+	Silent	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr10:55943219C>T	ENST00000373965.2	-	14	1990	c.1596G>A	c.(1594-1596)ggG>ggA	p.G532G	PCDH15_ENST00000409834.1_Silent_p.G136G|PCDH15_ENST00000373955.1_Silent_p.G525G|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Silent_p.G503G|PCDH15_ENST00000395446.1_Silent_p.G525G|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.G488G|PCDH15_ENST00000320301.6_Silent_p.G525G|PCDH15_ENST00000395445.1_Silent_p.G532G|PCDH15_ENST00000395433.1_Silent_p.G503G|PCDH15_ENST00000395430.1_Silent_p.G525G|PCDH15_ENST00000361849.3_Silent_p.G525G|PCDH15_ENST00000414778.1_Silent_p.G530G|PCDH15_ENST00000437009.1_Silent_p.G525G|PCDH15_ENST00000395438.1_Silent_p.G525G	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	525	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G525G(2)|p.G530G(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGACACTGTCCCCAGGTCTCA	0.363000										HNSCC(58;0.16)			18	72					0	0	0.008871	0	0
NPAP1	23742	broad.mit.edu	37	15	24921231	24921231	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:24921231C>A	ENST00000329468.2	+	1	691	c.217C>A	c.(217-219)Cct>Act	p.P73T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P73N(1)									GAGGCCGTGTCCTCTCCCTCG	0.711000													12	41					6.40141e-05	7.54883e-05	0.010729	1	0
FAM84B	157638	broad.mit.edu	37	8	127569531	127569531	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr8:127569531G>T	ENST00000304916.3	-	2	559	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	35						cytoplasm|plasma membrane	protein binding	p.S35Y(1)		lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GAAAATGTAGGAGACCCCAAT	0.672000													11	25					2.80697e-09	3.77281e-09	0.010729	1	0
KIAA1468	57614	broad.mit.edu	37	18	59895607	59895607	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr18:59895607G>T	ENST00000256858.6	+	8	1472	c.1224G>T	c.(1222-1224)ttG>ttT	p.L408F	KIAA1468_ENST00000398130.2_Missense_Mutation_p.L408F			Q9P260	K1468_HUMAN	KIAA1468	408							binding	p.L408F(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGCCTCCTTTGGATCAGTTGC	0.418000													4	127					0.00116845	0.00133384	0.001168	1	0
OXCT1	5019	broad.mit.edu	37	5	41853613	41853613	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr5:41853613T>A	ENST00000196371.5	-	4	482	c.322A>T	c.(322-324)Ata>Tta	p.I108L		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	108					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	p.I108L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	ATGCGTTTTATCTGCTTGGAC	0.423000													3	38					0	0	0.009096	0	0
OR8H2	390151	broad.mit.edu	37	11	55873303	55873303	+	Missense_Mutation	SNP	C	C	A	rs143759988	by1000genomes	TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:55873303C>A	ENST00000313503.1	+	1	785	c.785C>A	c.(784-786)cCa>cAa	p.P262Q		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P262Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TATTTAAAACCAAGAAAGTCT	0.363000										HNSCC(53;0.14)			6	97					0.00116845	0.00133384	0.001168	1	0
PCDHB11	56125	broad.mit.edu	37	5	140579865	140579865	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr5:140579865G>T	ENST00000354757.3	+	1	518	c.518G>T	c.(517-519)aGc>aTc	p.S173I	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		173	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S173I(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACACAATAAGCCCCAACTCT	0.428000													25	93					1.66031e-10	2.29324e-10	0.021523	1	0
OTUD4	54726	broad.mit.edu	37	4	146077104	146077104	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr4:146077104G>C	ENST00000454497.2	-	8	616	c.479C>G	c.(478-480)cCt>cGt	p.P160R	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.P225R	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	225							protein binding	p.P160R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCCTGACAAAGGTTTAAATCC	0.313000													13	54					0	0	0.016723	0	0
COLGALT2	23127	broad.mit.edu	37	1	183923911	183923911	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:183923911C>G	ENST00000361927.4	-	7	1385	c.1014G>C	c.(1012-1014)aaG>aaC	p.K338N	COLGALT2_ENST00000546159.1_Missense_Mutation_p.K338N|COLGALT2_ENST00000367520.3_Missense_Mutation_p.K75N	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2									p.K338N(1)									CAAATCCCATCTTGTCTGGAT	0.463000													10	87					0	0	0.006214	0	0
NF1	4763	broad.mit.edu	37	17	29554590	29554590	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr17:29554590T>A	ENST00000358273.4	+	20	2758	c.2375T>A	c.(2374-2376)cTt>cAt	p.L792H	NF1_ENST00000356175.3_Missense_Mutation_p.L792H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	792					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.L792H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAGCTAATCCTTAACTATCCA	0.358000			"""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)			29	25					0	0	0.007291	0	0
BLNK	29760	broad.mit.edu	37	10	97960807	97960807	+	Silent	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr10:97960807T>A	ENST00000224337.5	-	14	1083	c.942A>T	c.(940-942)acA>acT	p.T314T	BLNK_ENST00000371176.2_Silent_p.T291T|BLNK_ENST00000413476.2_Silent_p.T314T|BLNK_ENST00000427367.2_Silent_p.T314T	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	314					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.T314T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TTCCCCCTTCTGTAAATCCTG	0.413000													35	90					0	0	0.019004	0	0
F11	2160	broad.mit.edu	37	4	187192834	187192834	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr4:187192834G>T	ENST00000264692.4	+	3	460	c.127G>T	c.(127-129)Gcc>Tcc	p.A43S	F11_ENST00000492972.2_Missense_Mutation_p.A43S|F11_ENST00000403665.2_Missense_Mutation_p.A43S			P03951	FA11_HUMAN	coagulation factor XI	43	Apple 1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.A43S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CACACCAAGCGCCAAGTACTG	0.488000													12	92					4.84862e-15	7.17251e-15	0.010729	1	0
MAPK7	5598	broad.mit.edu	37	17	19286510	19286510	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr17:19286510T>G	ENST00000308406.5	+	7	2803	c.2417T>G	c.(2416-2418)cTg>cGg	p.L806R	MAPK7_ENST00000395602.4_Missense_Mutation_p.L806R|MAPK7_ENST00000571657.1_3'UTR|MAPK7_ENST00000299612.7_Missense_Mutation_p.L667R|MAPK7_ENST00000395604.3_Missense_Mutation_p.L806R	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	806	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	p.L806R(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TCCCCAATGCTGCTGGCTGAC	0.597000													3	63					0	0	0.004672	0	0
SNX4	8723	broad.mit.edu	37	3	125208251	125208251	+	Splice_Site	SNP	C	C	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr3:125208251C>G	ENST00000251775.4	-	6	678		c.e6+1		SNX4_ENST00000473417.1_Intron|SNX4_ENST00000536067.1_Splice_Site	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4						cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	p.?(1)		breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CAAAACCTTACTTGTCTGGGT	0.303000													14	42					0	0	0.020292	0	0
VOPP1	81552	broad.mit.edu	37	7	55540620	55540620	+	Silent	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr7:55540620C>A	ENST00000285279.5	-	5	647	c.447G>T	c.(445-447)gtG>gtT	p.V149V	VOPP1_ENST00000454227.1_Silent_p.V86V|VOPP1_ENST00000427700.1_Silent_p.V147V|VOPP1_ENST00000428097.1_Silent_p.V82V|VOPP1_ENST00000418904.1_Silent_p.V132V|VOPP1_ENST00000453256.1_Silent_p.V82V|VOPP1_ENST00000545390.1_Silent_p.V146V|VOPP1_ENST00000428648.1_Silent_p.V82V|VOPP1_ENST00000433959.1_Silent_p.V140V	NM_030796.3	NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	149	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity	p.V149V(1)|p.G112C(1)		endometrium(1)|lung(4)	5						GCGGGCAGGCCACACTCCCCT	0.637000													6	12					0.00198382	0.00222401	0.001984	1	0
AAR2	25980	broad.mit.edu	37	20	34843635	34843635	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr20:34843635G>T	ENST00000373932.3	+	4	1469	c.1123G>T	c.(1123-1125)Gtg>Ttg	p.V375L	AAR2_ENST00000397286.3_Intron|AAR2_ENST00000320849.4_Missense_Mutation_p.V375L	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)									p.V375L(1)									CCCGGTGGTGGTGGAGCTCCC	0.607000													15	44					2.35188e-11	3.3032e-11	0.006122	1	0
TRIM2	23321	broad.mit.edu	37	4	154217122	154217122	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr4:154217122G>T	ENST00000338700.5	+	6	1509	c.1444G>T	c.(1444-1446)Gca>Tca	p.A482S	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.A455S	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	455						cytoplasm	zinc ion binding	p.A482S(1)|p.A455S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GAAAAGACCCGCAAGCATGTA	0.557000													8	38					5.18039e-06	6.37979e-06	0.003080	1	0
SEZ6L	23544	broad.mit.edu	37	22	26706748	26706748	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr22:26706748G>C	ENST00000529632.2	+	7	1823	c.1627G>C	c.(1627-1629)Gag>Cag	p.E543Q	SEZ6L_ENST00000360929.3_Missense_Mutation_p.E543Q|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E543Q|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E316Q|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E543Q|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E316Q|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E543Q	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	543	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.E543Q(1)		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						CATCCGCATCGAGTTCACGTC	0.597000													3	152					0	0	0.009096	0	0
SLC39A6	25800	broad.mit.edu	37	18	33694349	33694349	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr18:33694349C>A	ENST00000269187.5	-	7	1767	c.1554G>T	c.(1552-1554)atG>atT	p.M518I	SLC39A6_ENST00000440549.2_Missense_Mutation_p.M243I|SLC39A6_ENST00000590986.1_Missense_Mutation_p.M518I	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	518						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.M518I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CATGAGCTATCATGACCTCTT	0.463000													16	90					1.33834e-09	1.80856e-09	0.007413	1	0
PCDHB6	56130	broad.mit.edu	37	5	140531678	140531678	+	Missense_Mutation	SNP	G	G	A	rs137911178		TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr5:140531678G>A	ENST00000231136.1	+	1	1840	c.1840G>A	c.(1840-1842)Ggc>Agc	p.G614S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G478S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		614	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.G614S(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTCTGTTCGGCGTGTGGGC	0.667000													5	67					0	0	0.003080	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927814	13927814	+	RNA	SNP	A	A	T	rs141406384	by1000genomes	TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr17:13927814A>T	ENST00000602743.1	-	0	224																											TTGGTGGGAGACGCTCAAGAG	0.512000													4	17					0	0	0.001168	0	0
DOT1L	84444	broad.mit.edu	37	19	2191240	2191240	+	Splice_Site	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:2191240G>T	ENST00000398665.3	+	5	529		c.e5+1			NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase							nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.?(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGGGAGCGGTGAGTGTCGC	0.607000													14	28					1.15088e-07	1.47548e-07	0.004007	1	0
AAR2	25980	broad.mit.edu	37	20	34843634	34843634	+	Silent	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr20:34843634G>T	ENST00000373932.3	+	4	1468	c.1122G>T	c.(1120-1122)gtG>gtT	p.V374V	AAR2_ENST00000397286.3_Intron|AAR2_ENST00000320849.4_Silent_p.V374V	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)									p.V375L(1)									CCCCGGTGGTGGTGGAGCTCC	0.602000													15	44					2.35188e-11	3.3032e-11	0.006122	1	0
PTPLA	9200	broad.mit.edu	37	10	17636278	17636278	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr10:17636278C>A	ENST00000361271.3	-	6	747	c.710G>T	c.(709-711)aGa>aTa	p.R237I		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	237					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	p.R237I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTTAGGAAGTCTTATTGAAAA	0.313000													23	77					7.41877e-09	9.76154e-09	0.012319	1	0
LRRN4	164312	broad.mit.edu	37	20	6033166	6033166	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr20:6033166C>T	ENST00000378858.4	-	2	504	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	94						integral to membrane		p.E94K(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGGCCGAGCTCGGAAGTGCTC	0.741000													9	10					0	0	0.010729	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122392	39122392	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr22:39122392A>T	ENST00000216044.5	+	8	1581	c.1348A>T	c.(1348-1350)Atg>Ttg	p.M450L	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	450					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	p.M450L(1)|p.M28L(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TCGCAAGCGCATGCCTGTCAA	0.557000													14	50					0	0	0.016723	0	0
SMR3A	26952	broad.mit.edu	37	4	71232648	71232648	+	Silent	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr4:71232648T>A	ENST00000226460.4	+	3	438	c.342T>A	c.(340-342)ccT>ccA	p.P114P		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	114	Pro-rich.					extracellular region		p.P114P(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CCTATCCACCTGGACCTCCAT	0.517000													35	74					0	0	0.021022	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500725	27500725	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:27500725G>A	ENST00000296097.3	+	4	635	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	DNAJC5G_ENST00000402462.1_Missense_Mutation_p.E73K|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.E57K	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	73	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.E73K(2)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAGCAGCAGAAATATTCAA	0.473000													14	87					0	0	0.020292	0	0
RTP2	344892	broad.mit.edu	37	3	187416668	187416668	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr3:187416668C>A	ENST00000358241.1	-	2	724	c.296G>T	c.(295-297)tGc>tTc	p.C99F		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	99					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.C99F(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CGCCGTGCCGCACTCATAGCA	0.647000													7	24					1.06961e-07	1.37837e-07	0.003080	1	0
PCDH15	65217	broad.mit.edu	37	10	55566681	55566681	+	Silent	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr10:55566681G>T	ENST00000373965.2	-	36	5107	c.4713C>A	c.(4711-4713)tcC>tcA	p.S1571S	PCDH15_ENST00000414778.1_Silent_p.S1568S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	422					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.S1568S(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCGAACAGGGGAAGCAACTT	0.458000										HNSCC(58;0.16)			46	151					3.77016e-25	6.0809e-25	0.013114	1	0
COL12A1	1303	broad.mit.edu	37	6	75875304	75875304	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:75875304C>T	ENST00000322507.8	-	14	3211	c.2902G>A	c.(2902-2904)Gag>Aag	p.E968K	COL12A1_ENST00000483888.2_Missense_Mutation_p.E968K|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.E968K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	968	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.E968K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATTTGGTCTCTGGCTGCAGA	0.408000													27	128					0	0	0.021523	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239237900	239237900	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:239237900G>T	ENST00000373327.4	+	5	1054	c.832G>T	c.(832-834)Gac>Tac	p.D278Y	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.D278Y|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.D278Y	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	278	Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding	p.D278Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		gaaggacagggacagacggag	0.547000													11	26					3.86212e-05	4.64197e-05	0.008291	1	0
STK11	6794	broad.mit.edu	37	19	1218415	1218415	+	Splice_Site	SNP	G	G	T	rs112675807		TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:1218415G>T	ENST00000326873.7	+	2	1463		c.e2-1		STK11_ENST00000585748.1_Splice_Site	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGTCCCAGGGAAATTCAA	0.522000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			45	69					9.58827e-17	1.47967e-16	0.014410	1	0
DNAH7	56171	broad.mit.edu	37	2	196681573	196681573	+	Silent	SNP	A	A	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:196681573A>G	ENST00000312428.6	-	51	9640	c.9540T>C	c.(9538-9540)aaT>aaC	p.N3180N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3180	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.N3180N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGAAATCTCATTAGCCAAGG	0.403000													20	94					0	0	0.007413	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869547	36869547	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr20:36869547C>A	ENST00000279024.4	-	3	1257	c.986G>T	c.(985-987)gGa>gTa	p.G329V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	329								p.G329V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAAGGAAGGTCCTTCATTGGC	0.488000													86	184					2.93416e-43	5.02424e-43	0.014410	1	0
NPAP1	23742	broad.mit.edu	37	15	24921232	24921232	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:24921232C>A	ENST00000329468.2	+	1	692	c.218C>A	c.(217-219)cCt>cAt	p.P73H		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P73N(1)									AGGCCGTGTCCTCTCCCTCGG	0.711000													12	41					6.40141e-05	7.54883e-05	0.010729	1	0
ARRDC5	645432	broad.mit.edu	37	19	4891298	4891298	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:4891298G>T	ENST00000381781.2	-	3	788	c.789C>A	c.(787-789)aaC>aaA	p.N263K		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	263					signal transduction			p.N263K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CCTTGGTGGTGTTGAAGCGGG	0.622000													27	48					8.24728e-16	1.24959e-15	0.004656	1	0
POTEG	404785	broad.mit.edu	37	14	19553775	19553775	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr14:19553775G>T	ENST00000409832.3	+	1	411	c.359G>T	c.(358-360)tGg>tTg	p.W120L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	120								p.W120L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGGGCCCTTGGGGAGACTAC	0.602000													8	523					0.00307968	0.00339172	0.003080	1	0
GRIN2D	2906	broad.mit.edu	37	19	48922550	48922550	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:48922550G>T	ENST00000263269.3	+	8	1883	c.1795G>T	c.(1795-1797)Gtc>Ttc	p.V599F		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	599						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	p.V599F(1)		autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	TGTGGTCGCCGTCACTGTTTT	0.607000													21	43					1.40151e-16	2.14955e-16	0.010504	1	0
SLC24A1	9187	broad.mit.edu	37	15	65918051	65918051	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:65918051C>T	ENST00000261892.6	+	2	1920	c.1633C>T	c.(1633-1635)Ctc>Ttc	p.L545F	SLC24A1_ENST00000399033.4_Missense_Mutation_p.L545F|SLC24A1_ENST00000339868.6_Missense_Mutation_p.L545F|SLC24A1_ENST00000537259.1_Missense_Mutation_p.L545F|SLC24A1_ENST00000546330.1_Missense_Mutation_p.L545F|SLC24A1_ENST00000544319.2_Missense_Mutation_p.L545F	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	545					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	p.L545F(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CACTTGTTCCCTCTTCTCCCG	0.502000													48	156					0	0	0.014410	0	0
EPHB1	2047	broad.mit.edu	37	3	134851590	134851590	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr3:134851590C>G	ENST00000398015.3	+	5	1366	c.996C>G	c.(994-996)atC>atG	p.I332M	EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	332	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.I332M(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTATCTCCATCGTCAATGAGA	0.547000													10	28					0	0	0.006214	0	0
TTC21A	199223	broad.mit.edu	37	3	39166949	39166949	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr3:39166949G>C	ENST00000301819.6	+	11	1519	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	TTC21A_ENST00000440121.1_Missense_Mutation_p.E399Q|TTC21A_ENST00000431162.2_Missense_Mutation_p.E448Q	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	448							binding	p.E448Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTTGGCTCTGAGTACTTTGA	0.547000											OREG0015487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	114					0	0	0.001168	0	0
ZC3H4	23211	broad.mit.edu	37	19	47585439	47585439	+	Splice_Site	SNP	A	A	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:47585439A>T	ENST00000253048.5	-	10	1368		c.e10+1		ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4								nucleic acid binding|zinc ion binding	p.?(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACTAAAGGATATCGTGCATAT	0.468000													34	72					0	0	0.019004	0	0
KCNN2	3781	broad.mit.edu	37	5	113831719	113831719	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr5:113831719T>C	ENST00000512097.3	+	9	2598	c.1580T>C	c.(1579-1581)cTc>cCc	p.L527P	RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Missense_Mutation_p.L179P|KCNN2_ENST00000264773.3_Missense_Mutation_p.L527P			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	527						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.L527P(1)|p.L179P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTCCCTGGGCTCATAAGCCAG	0.502000													3	135					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179577492	179577492	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:179577492C>A	ENST00000589042.1	-	94	27484	c.27260G>T	c.(27259-27261)gGa>gTa	p.G9087V	TTN_ENST00000591111.1_Missense_Mutation_p.G8770V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7843V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8770	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7843V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTATATTCTCCACTTTGTGA	0.408000													13	85					1.5842e-08	2.07356e-08	0.016723	1	0
GALNT14	79623	broad.mit.edu	37	2	31147108	31147108	+	Silent	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:31147108G>T	ENST00000349752.5	-	13	1896	c.1257C>A	c.(1255-1257)atC>atA	p.I419I	GALNT14_ENST00000420311.2_Silent_p.I384I|GALNT14_ENST00000356174.3_Silent_p.I386I|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000406653.1_Silent_p.I399I|GALNT14_ENST00000324589.5_Silent_p.I424I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	419	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I419I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGCCCTTCTGGATGGAGGACT	0.537000													30	138					3.17567e-06	3.94984e-06	0.008361	1	0
GARNL3	84253	broad.mit.edu	37	9	130151342	130151342	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr9:130151342C>A	ENST00000373387.4	+	26	3039	c.2687C>A	c.(2686-2688)tCc>tAc	p.S896Y	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.S874Y	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	896					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	p.S878Y(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CACTCCTTGTCCCTGTCTCGC	0.532000													4	45					0.00024832	0.000290093	0.009096	1	0
SI	6476	broad.mit.edu	37	3	164741524	164741524	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr3:164741524C>G	ENST00000264382.3	-	26	2995	c.2933G>C	c.(2932-2934)aGa>aCa	p.R978T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	978	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R978T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTATCTTGTCTGGGAAAGTA	0.373000										HNSCC(35;0.089)			15	45					0	0	0.004007	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884835	15884835	+	Silent	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr21:15884835G>T	ENST00000285670.2	-	5	717	c.543C>A	c.(541-543)acC>acA	p.T181T	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.T113T	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	113	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.T113T(1)|p.T181T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCTCTGTGTGGGTCCCAATCA	0.463000													39	154					3.66082e-28	6.06095e-28	0.005524	1	0
ELTD1	64123	broad.mit.edu	37	1	79403965	79403965	+	Splice_Site	SNP	C	C	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:79403965C>G	ENST00000370742.3	-	5	460		c.e5-1			NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1						neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGGATCTGATCTGAGAAAAAA	0.313000													8	13					0	0	0.003080	0	0
STK32C	282974	broad.mit.edu	37	10	134040457	134040457	+	Silent	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr10:134040457G>A	ENST00000368622.1	-	4	516	c.135C>T	c.(133-135)gaC>gaT	p.D45D	STK32C_ENST00000368625.4_Silent_p.D175D			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	162							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.D175D(1)|p.D162D(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGTCCTCCTCGTCCTGGAAGG	0.622000													5	34					0	0	0.014758	0	0
ZNF382	84911	broad.mit.edu	37	19	37117732	37117732	+	Silent	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:37117732C>T	ENST00000435416.1	+	3	2425	c.930C>T	c.(928-930)ctC>ctT	p.L310L	ZNF382_ENST00000292928.2_Silent_p.L311L|ZNF382_ENST00000423582.1_Silent_p.L262L|ZNF382_ENST00000439428.1_Silent_p.L310L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	311	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	p.L311L(1)		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)			AGTCATACCTCATTGAACATC	0.423000													32	93					0	0	0.009535	0	0
KNOP1	400506	broad.mit.edu	37	16	19725912	19725912	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr16:19725912T>C	ENST00000219837.7	-	2	524	c.446A>G	c.(445-447)aAa>aGa	p.K149R	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1									p.K149R(1)									CTTGTGTTTTTTGAGCTTCTT	0.557000													21	53					0	0	0.012319	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451247	87451247	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr16:87451247T>A	ENST00000268616.4	-	8	1008	c.791A>T	c.(790-792)cAt>cTt	p.H264L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	264					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.H264L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTGCCCGCATGGGAGCAGTG	0.692000													30	151					0	0	0.007291	0	0
OR8H2	390151	broad.mit.edu	37	11	55873302	55873302	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:55873302C>A	ENST00000313503.1	+	1	784	c.784C>A	c.(784-786)Cca>Aca	p.P262T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTATTTAAAACCAAGAAAGTC	0.363000										HNSCC(53;0.14)			7	96					0.00198382	0.00222401	0.001984	1	0
MRC2	9902	broad.mit.edu	37	17	60759205	60759205	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr17:60759205G>T	ENST00000303375.5	+	19	3112	c.2710G>T	c.(2710-2712)Gat>Tat	p.D904Y	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	904	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding	p.D904Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CAGATGGACAGATGGTTCCAT	0.597000													8	17					0.00307968	0.00339172	0.003080	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589508	140589508	+	Silent	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr5:140589508C>T	ENST00000239450.2	+	1	1218	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PCDHB12_ENST00000541609.1_Silent_p.N6N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		343	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.N343N(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAACGACAACGCTCCTGAAA	0.433000													21	59					0	0	0.010504	0	0
AGO2	27161	broad.mit.edu	37	8	141561493	141561493	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr8:141561493G>A	ENST00000220592.5	-	11	1424	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	AGO2_ENST00000519980.1_Missense_Mutation_p.R438W	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2									p.R438W(2)									TGCTTGTTCCGCATGTCCCAG	0.532000													4	120					0	0	0.009096	0	0
USP1	7398	broad.mit.edu	37	1	62910726	62910726	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:62910726C>G	ENST00000339950.4	+	6	1690	c.875C>G	c.(874-876)tCa>tGa	p.S292*	USP1_ENST00000371146.1_Nonsense_Mutation_p.S292*	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	292					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S292*(1)		breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GAACACCAGTCATTGGAAGAG	0.328000													23	52					0	0	0.014323	0	0
LAMC3	10319	broad.mit.edu	37	9	133948700	133948700	+	Silent	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr9:133948700C>A	ENST00000361069.4	+	20	3619	c.3486C>A	c.(3484-3486)ctC>ctA	p.L1162L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1162	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.L1162L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCGTGCCCTCGCCAGGAGGT	0.602000													22	41					1.96895e-08	2.55045e-08	0.016522	1	0
MGAM	8972	broad.mit.edu	37	7	141727025	141727025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr7:141727025G>T	ENST00000475668.2	+	9	1147	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.E365*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	365	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.E365*(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGAATATCTAGAGGTAAACTT	0.413000													54	75					1.32667e-27	2.16776e-27	0.014410	1	0
ATXN1	6310	broad.mit.edu	37	6	16327897	16327897	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:16327897C>A	ENST00000244769.4	-	8	1581	c.645G>T	c.(643-645)caG>caT	p.Q215H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q215H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	215	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.Q215H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.667000													3	6					2.56e-06	3.2e-06	0.009096	1	0
SIN3B	23309	broad.mit.edu	37	19	16942395	16942395	+	Silent	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:16942395C>T	ENST00000379803.1	+	3	332	c.318C>T	c.(316-318)ctC>ctT	p.L106L	SIN3B_ENST00000248054.5_Silent_p.L106L|SIN3B_ENST00000596802.1_Silent_p.L106L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	106	PAH 1.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	p.L106L(2)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TTCTTCCCCTCGGATATAGAA	0.488000													41	118					0	0	0.006230	0	0
OPTC	26254	broad.mit.edu	37	1	203467938	203467938	+	Missense_Mutation	SNP	G	G	A	rs114769450	byFrequency	TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:203467938G>A	ENST00000367222.2	+	4	616	c.500G>A	c.(499-501)cGt>cAt	p.R167H		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	167						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.R167H(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGCATCAGCCGTATCAGGGCC	0.552000													33	46					0	0	0.019004	0	0
C3orf56	285311	broad.mit.edu	37	3	126916014	126916014	+	Silent	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr3:126916014C>A	ENST00000398112.1	+	2	726	c.486C>A	c.(484-486)gcC>gcA	p.A162A		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56									p.A162A(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		GGACTCCAGCCAGCTCAGCCC	0.627000													45	75					2.95478e-19	4.58816e-19	0.008740	1	0
OR2M7	391196	broad.mit.edu	37	1	248487582	248487582	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:248487582A>T	ENST00000317965.2	-	1	317	c.289T>A	c.(289-291)Tgt>Agt	p.C97S		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97S(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGTGGCACAGCCAGCCATA	0.483000													167	251					0	0	0.014410	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581425	40581425	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:40581425C>A	ENST00000450241.2	-	6	1133	c.822G>T	c.(820-822)aaG>aaT	p.K274N	ZNF780A_ENST00000594395.1_Missense_Mutation_p.K309N|ZNF780A_ENST00000595687.2_Missense_Mutation_p.K308N|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.K309N|ZNF780A_ENST00000340963.5_Missense_Mutation_p.K308N			O75290	Z780A_HUMAN	zinc finger protein 780A	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K274N(1)|p.K309N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCCACATTCCTTACATACAA	0.388000													58	174					3.91957e-13	5.63157e-13	0.014410	1	0
ATP4A	495	broad.mit.edu	37	19	36053478	36053478	+	Silent	SNP	T	T	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:36053478T>C	ENST00000262623.3	-	4	307	c.279A>G	c.(277-279)ccA>ccG	p.P93P		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	93					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.P93P(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGCCCCGTGGTGGCCGCAGTG	0.706000													5	16					0	0	0.014758	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446391	10446391	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr4:10446391T>A	ENST00000326756.3	-	3	2000	c.1562A>T	c.(1561-1563)cAc>cTc	p.H521L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H521L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGAGCTACTGTGTAAATTTCT	0.403000													25	81					0	0	0.004656	0	0
ANPEP	290	broad.mit.edu	37	15	90347501	90347501	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:90347501G>A	ENST00000300060.6	-	6	1475	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	388	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.H388Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCCAGCTCATGAGCAATCACA	0.642000													32	90					0	0	0.012213	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215981	20215981	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr14:20215981G>T	ENST00000331723.1	+	1	395	c.395G>T	c.(394-396)cGc>cTc	p.R132L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R132H(1)|p.R132L(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AACCCTTTGCGCTACCTTACA	0.493000													8	108					0.00621372	0.0067248	0.006214	1	0
DSEL	92126	broad.mit.edu	37	18	65181026	65181026	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr18:65181026C>A	ENST00000310045.7	-	2	2323	c.850G>T	c.(850-852)Gat>Tat	p.D284Y	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	274						integral to membrane	isomerase activity|sulfotransferase activity	p.D284Y(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACACCTTCATCCAAAGAACCA	0.378000													12	92					1.61879e-10	2.24832e-10	0.013537	1	0
AASS	10157	broad.mit.edu	37	7	121773752	121773752	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr7:121773752C>T	ENST00000393376.1	-	1	124	c.29G>A	c.(28-30)gGc>gAc	p.G10D	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.G10D			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	10					protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.G10D(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCCCAGCCTGCCCAGTCCAGT	0.562000													4	173					0	0	0.009096	0	0
SQSTM1	8878	broad.mit.edu	37	5	179249978	179249978	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr5:179249978G>T	ENST00000389805.4	+	2	404	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	SQSTM1_ENST00000376929.3_5'UTR|SQSTM1_ENST00000510187.1_Missense_Mutation_p.A76S|SQSTM1_ENST00000360718.5_5'UTR|SQSTM1_ENST00000402874.3_5'UTR	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	76	Interaction with PAWR.|Interaction with PRKCZ and dimerization (By similarity).|OPR.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	p.A76S(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTTGGTTGCCTTTTCCAG	0.517000													7	51					5.4927e-09	7.26548e-09	0.004482	1	0
CD5L	922	broad.mit.edu	37	1	157805889	157805889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:157805889C>A	ENST00000368174.4	-	3	208	c.112G>T	c.(112-114)Gag>Tag	p.E38*	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	38	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.E38*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTTCCACCTCCACCCGCCCT	0.632000													40	74					1.59361e-14	2.32984e-14	0.006999	1	0
ATRIP	84126	broad.mit.edu	37	3	48491469	48491469	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr3:48491469G>T	ENST00000320211.3	+	2	387	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	ATRIP_ENST00000412052.1_5'UTR|ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000346691.4_Missense_Mutation_p.D92Y	NM_130384.1	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	92					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	p.D92Y(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGATTATTAGATGGCATGTC	0.338000								Other conserved DNA damage response genes					77	136					1.35621e-51	2.35453e-51	0.014410	1	0
TRIM55	84675	broad.mit.edu	37	8	67086790	67086790	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr8:67086790A>T	ENST00000315962.4	+	10	1982	c.1609A>T	c.(1609-1611)Atc>Ttc	p.I537F	TRIM55_ENST00000276573.7_3'UTR|TRIM55_ENST00000353317.5_Missense_Mutation_p.I441F|TRIM55_ENST00000350034.4_Missense_Mutation_p.I230F	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	537						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.I537F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGCTCGCCATATCTTCTCCTT	0.532000													5	140					0	0	0.001984	0	0
REV3L	5980	broad.mit.edu	37	6	111694531	111694531	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:111694531T>A	ENST00000435970.1	-	15	5609	c.4793A>T	c.(4792-4794)aAg>aTg	p.K1598M	REV3L_ENST00000368802.3_Missense_Mutation_p.K1676M|REV3L_ENST00000368805.1_Missense_Mutation_p.K1676M|REV3L_ENST00000358835.3_Missense_Mutation_p.K1676M			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1676					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.K1676M(1)|p.K1598M(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		acttaggaacttctgaggcaa	0.348000								DNA polymerases (catalytic subunits)					10	38					0	0	0.008291	0	0
LOC653786	653786	broad.mit.edu	37	16	22558349	22558349	+	RNA	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr16:22558349G>T	ENST00000550753.1	+	0	1331					NR_003676.2																						CTTTTCTCAGGAGATGAATTA	0.428000													6	53					0.00448238	0.00491489	0.004482	1	0
CFH	3075	broad.mit.edu	37	1	196658660	196658660	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:196658660G>A	ENST00000367429.4	+	8	1315	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	CFH_ENST00000359637.2_Missense_Mutation_p.E295K|CFH_ENST00000439155.2_Missense_Mutation_p.E359K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	359	Sushi 6.				complement activation, alternative pathway	extracellular space		p.E359K(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTACTGTGATGAACATTTTGA	0.408000													30	58					0	0	0.007291	0	0
RAB15	376267	broad.mit.edu	37	14	65417042	65417042	+	Splice_Site	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr14:65417042C>A	ENST00000533601.2	-	5	752		c.e5+1		CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Splice_Site|RAB15_ENST00000436278.2_Splice_Site|RAB15_ENST00000267512.5_Splice_Site			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.?(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CCTCCACTTACCTGCTGCCCT	0.592000													58	215					2.44918e-20	3.82685e-20	0.014410	1	0
SLC25A44	9673	broad.mit.edu	37	1	156180134	156180134	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:156180134C>T	ENST00000359511.4	+	4	1029	c.857C>T	c.(856-858)aCa>aTa	p.T286I	SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.T263I	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	286					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.T286I(1)		breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					ATCTCAGCCACACCTTCCACC	0.567000													6	71					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179433977	179433977	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:179433977C>G	ENST00000589042.1	-	326	77106	c.76882G>C	c.(76882-76884)Gat>Cat	p.D25628H	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D23987H|TTN_ENST00000359218.5_Missense_Mutation_p.D16688H|TTN_ENST00000342175.6_Missense_Mutation_p.D16755H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16563H|TTN_ENST00000342992.6_Missense_Mutation_p.D23060H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23987							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D16688H(1)|p.D16563H(1)|p.D23060H(1)|p.D16755H(1)|p.D23058H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCCCCCATCCAACAAAGGA	0.398000													119	260					0	0	0.014410	0	0
SLC17A6	57084	broad.mit.edu	37	11	22380959	22380959	+	Splice_Site	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:22380959G>T	ENST00000263160.3	+	4	896	c.458_splice	c.e4-1	p.R153_splice		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	153					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.R153S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCTATTTCAGGGTTTTCGGAG	0.343000													9	47					5.4927e-09	7.26548e-09	0.004482	1	0
ZNF18	7566	broad.mit.edu	37	17	11895767	11895767	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr17:11895767C>A	ENST00000322748.3	-	4	984	c.380G>T	c.(379-381)tGg>tTg	p.W127L	ZNF18_ENST00000580613.1_Missense_Mutation_p.W76L|ZNF18_ENST00000580306.1_Missense_Mutation_p.W127L|ZNF18_ENST00000454073.3_Missense_Mutation_p.W127L	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	127					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W127L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TACCCATTGCCACAGTCTCTG	0.527000													32	43					1.08312e-15	1.62144e-15	0.009535	1	0
MARK4	57787	broad.mit.edu	37	19	45805827	45805827	+	Silent	SNP	C	C	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:45805827C>G	ENST00000262891.4	+	17	2449	c.2118C>G	c.(2116-2118)ccC>ccG	p.P706P	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	706	KA1.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGGCGGGCCCGAGCCCCTGT	0.741000													4	3					0	0	0.001168	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513841	50513841	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr7:50513841T>C	ENST00000419119.1	-	2	2698	c.1145A>G	c.(1144-1146)aAg>aGg	p.K382R	FIGNL1_ENST00000356889.4_Missense_Mutation_p.K382R|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K382R|FIGNL1_ENST00000433017.1_Missense_Mutation_p.K382R			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	382					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.K382R(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTCAATCATCTTTGGCTCCAA	0.438000													68	186					0	0	0.014410	0	0
TENM3	55714	broad.mit.edu	37	4	183245345	183245345	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr4:183245345C>A	ENST00000511685.1	+	2	295	c.172C>A	c.(172-174)Ctt>Att	p.L58I	TENM3_ENST00000406950.2_Missense_Mutation_p.L58I					teneurin transmembrane protein 3									p.L58I(1)									CTCGCGGCTGCTTTACGGCAA	0.478000													23	76					0.00278032	0.00310304	0.016522	1	0
MRPS17	51373	broad.mit.edu	37	7	55980359	55980359	+	Splice_Site	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr7:55980359G>T	ENST00000426595.1	+	4	984		c.e4-1		ZNF713_ENST00000429591.2_5'UTR|ZNF713_ENST00000482436.1_3'UTR			Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17						translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTTTTCTCAGGAGGGGAACA	0.408000													10	30					0.00136819	0.00155477	0.013537	1	0
TSTD2	158427	broad.mit.edu	37	9	100389587	100389587	+	Splice_Site	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr9:100389587C>T	ENST00000375172.2	-	2	366		c.e2+1		TSTD2_ENST00000375165.1_Splice_Site|TSTD2_ENST00000341170.4_Intron|TSTD2_ENST00000354801.2_Intron			Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2											large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CTAGACTTTACCTTGAGCTGG	0.418000													3	17					0	0	0.004672	0	0
CRB1	23418	broad.mit.edu	37	1	197404357	197404357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:197404357G>T	ENST00000367397.1	+	5	2365	c.1507G>T	c.(1507-1509)Gaa>Taa	p.E503*	CRB1_ENST00000544212.1_Nonsense_Mutation_p.E603*|CRB1_ENST00000535699.1_Nonsense_Mutation_p.E1098*|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Nonsense_Mutation_p.E1122*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.E1010*			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1122	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1121_E1122>H*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAACCTCAGGAAGAGCAATT	0.398000													23	61					3.62473e-10	4.95182e-10	0.012319	1	0
GPR111	222611	broad.mit.edu	37	6	47647861	47647861	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:47647861A>G	ENST00000398742.2	+	4	371	c.322A>G	c.(322-324)Act>Gct	p.T108A	GPR111_ENST00000296862.1_Missense_Mutation_p.T176A|GPR111_ENST00000507065.1_Missense_Mutation_p.T108A			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	176					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T176A(1)|p.T108A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAGTGTATATACTGGAAAGTC	0.333000													10	27					0	0	0.006214	0	0
SOX5	6660	broad.mit.edu	37	12	23687401	23687401	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr12:23687401C>T	ENST00000546136.1	-	14	2007	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T	SOX5_ENST00000396007.2_Missense_Mutation_p.A296T|SOX5_ENST00000309359.1_Missense_Mutation_p.A669T|SOX5_ENST00000545921.1_Missense_Mutation_p.A672T|SOX5_ENST00000541536.1_Missense_Mutation_p.A561T|SOX5_ENST00000537393.1_Missense_Mutation_p.A647T|SOX5_ENST00000381381.2_Missense_Mutation_p.A561T|SOX5_ENST00000451604.2_Missense_Mutation_p.A682T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	682					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A682T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CCAGCCATGGCGATGGCTCCA	0.552000													9	69					0	0	0.004482	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858886	149858886	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:149858886C>T	ENST00000331380.2	+	1	362	c.362C>T	c.(361-363)aCc>aTc	p.T121I		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	121					nucleosome assembly	nucleosome|nucleus	DNA binding	p.T121N(1)|p.T121I(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCAAAGAAAACCGAAAGCCAC	0.473000													19	99					0	0	0.010504	0	0
RSL24D1	51187	broad.mit.edu	37	15	55489023	55489023	+	Silent	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:55489023G>A	ENST00000260443.4	-	1	242	c.66C>T	c.(64-66)gtC>gtT	p.V22V		NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	22					ribosome biogenesis|translation	nucleolus|ribosome	structural constituent of ribosome	p.V22V(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						AATCGTTGCGGACGAACATCA	0.582000											OREG0023135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	39					0	0	0.006122	0	0
FN1	2335	broad.mit.edu	37	2	216274436	216274436	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:216274436G>T	ENST00000354785.4	-	15	2518	c.2149C>A	c.(2149-2151)Ccc>Acc	p.P717T	FN1_ENST00000323926.6_Missense_Mutation_p.P717T|FN1_ENST00000421182.1_Missense_Mutation_p.P717T|FN1_ENST00000357867.4_Missense_Mutation_p.P717T|FN1_ENST00000359671.1_Missense_Mutation_p.P717T|FN1_ENST00000357009.2_Missense_Mutation_p.P717T|FN1_ENST00000346544.3_Missense_Mutation_p.P717T|FN1_ENST00000345488.5_Missense_Mutation_p.P717T|FN1_ENST00000336916.4_Missense_Mutation_p.P717T|FN1_ENST00000446046.1_Missense_Mutation_p.P717T|FN1_ENST00000443816.1_Missense_Mutation_p.P717T|FN1_ENST00000432072.2_Missense_Mutation_p.P717T|FN1_ENST00000356005.4_Missense_Mutation_p.P717T			P02751	FINC_HUMAN	fibronectin 1	717					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.P717T(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGAAAAGGGAGTCGTCTCT	0.512000													7	49					0.000157383	0.000184722	0.003080	1	0
PRSS23	11098	broad.mit.edu	37	11	86662265	86662265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:86662265C>T	ENST00000533902.2	+	3	356	c.214C>T	c.(214-216)Caa>Taa	p.Q72*	FZD4_ENST00000531380.1_Silent_p.L511L|PRSS23_ENST00000531521.1_3'UTR			O95084	PRS23_HUMAN	protease, serine, 23	0					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	p.L511L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGAATTCACCAATCTGTTGG	0.453000													13	85					0	0	0.013537	0	0
OR51S1	119692	broad.mit.edu	37	11	4869601	4869601	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:4869601G>T	ENST00000322101.2	-	1	913	c.838C>A	c.(838-840)Cat>Aat	p.H280N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H280N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAAGAGTATGGGTATGCTGA	0.443000													18	77					2.35188e-11	3.3032e-11	0.006122	1	0
KIAA0319	9856	broad.mit.edu	37	6	24596749	24596749	+	Silent	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:24596749G>A	ENST00000535378.1	-	4	768	c.126C>T	c.(124-126)acC>acT	p.T42T	KIAA0319_ENST00000378214.3_Silent_p.T51T|KIAA0319_ENST00000430948.2_Silent_p.T6T|KIAA0319_ENST00000537886.1_Silent_p.T51T|KIAA0319_ENST00000543707.1_Silent_p.T51T	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	51	MANSC.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.T51T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CGACAGGGAAGGTGTGAGACA	0.582000													14	57					0	0	0.016723	0	0
MAT2A	4144	broad.mit.edu	37	2	85768989	85768989	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:85768989A>T	ENST00000306434.3	+	5	566	c.443A>T	c.(442-444)gAg>gTg	p.E148V	MAT2A_ENST00000490878.1_3'UTR|MAT2A_ENST00000409017.1_Missense_Mutation_p.E85V	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	148					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.E148V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GAAACTGAGGAGTGTATGCCT	0.408000													20	134					0	0	0.014323	0	0
DPT	1805	broad.mit.edu	37	1	168683502	168683502	+	Missense_Mutation	SNP	A	A	T	rs149928380	by1000genomes	TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:168683502A>T	ENST00000367817.3	-	2	477	c.388T>A	c.(388-390)Ttt>Att	p.F130I		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	130	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix		p.F130I(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CAACAGTAAAACTGCCACTCC	0.572000													4	63					0	0	0.009096	0	0
AHNAK	79026	broad.mit.edu	37	11	62287869	62287869	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:62287869C>A	ENST00000378024.4	-	5	14294	c.14020G>T	c.(14020-14022)Gtg>Ttg	p.V4674L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4674					nervous system development	nucleus	protein binding	p.V4674L(1)		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)				GGCAGGTTCACATCCACATCT	0.512000													78	380					7.14593e-30	1.19099e-29	0.014410	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76350353	76350353	+	Silent	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr16:76350353C>T	ENST00000307431.8	+	3	511	c.126C>T	c.(124-126)tcC>tcT	p.S42S	CNTNAP4_ENST00000476707.1_Silent_p.S46S|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.S18S|CNTNAP4_ENST00000377504.4_Silent_p.S42S	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	43	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S18S(2)|p.S42S(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCAGGCATCCTTCAGCAGTT	0.502000													10	40					0	0	0.006214	0	0
MLC1	23209	broad.mit.edu	37	22	50502513	50502513	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr22:50502513C>T	ENST00000311597.5	-	11	1615	c.1009G>A	c.(1009-1011)Ggt>Agt	p.G337S	MLC1_ENST00000538737.1_Missense_Mutation_p.G303S|MLC1_ENST00000450140.2_Missense_Mutation_p.G285S|MLC1_ENST00000431262.2_Missense_Mutation_p.G307S|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000535444.1_Missense_Mutation_p.G258S|MLC1_ENST00000395876.2_Missense_Mutation_p.G337S	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	337						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	p.G337S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CAGGATGCACCCTGCAGCCTT	0.697000													15	57					0	0	0.006122	0	0
DLGAP1	9229	broad.mit.edu	37	18	3502639	3502639	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr18:3502639G>C	ENST00000315677.3	-	12	3171	c.2576C>G	c.(2575-2577)cCt>cGt	p.P859R	DLGAP1_ENST00000584874.1_Missense_Mutation_p.P859R|DLGAP1_ENST00000581699.1_Missense_Mutation_p.P565R|DLGAP1_ENST00000581527.1_Missense_Mutation_p.P859R|DLGAP1_ENST00000539435.1_Missense_Mutation_p.P567R|DLGAP1_ENST00000400147.2_Missense_Mutation_p.P557R|DLGAP1_ENST00000515196.2_Missense_Mutation_p.P859R|DLGAP1_ENST00000534970.1_Missense_Mutation_p.P543R|DLGAP1_ENST00000400145.2_Missense_Mutation_p.P557R|DLGAP1_ENST00000400149.3_Missense_Mutation_p.P549R|DLGAP1_ENST00000400155.1_Missense_Mutation_p.P565R|DLGAP1_ENST00000400150.3_Missense_Mutation_p.P575R	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	859					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.P859R(1)|p.P567R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATGAGCATTAGGATTCTGCAC	0.388000													15	56					0	0	0.003163	0	0
DYRK3	8444	broad.mit.edu	37	1	206821060	206821060	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:206821060C>T	ENST00000367106.1	+	4	930	c.457C>T	c.(457-459)Cca>Tca	p.P153S	DYRK3_ENST00000367108.3_Missense_Mutation_p.P153S|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.P173S			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	173					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P138S(1)|p.P173S(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTTGTAGGTCCAAATGCCAA	0.423000													44	79					0	0	0.009718	0	0
ST18	9705	broad.mit.edu	37	8	53044594	53044594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr8:53044594G>A	ENST00000276480.7	-	22	3273	c.2590C>T	c.(2590-2592)Caa>Taa	p.Q864*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	864						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q864*(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGTAGCTCTTGTTTGTTCAGT	0.488000													25	62					0	0	0.016522	0	0
RDH16	8608	broad.mit.edu	37	12	57346753	57346753	+	Silent	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr12:57346753C>A	ENST00000398138.3	-	3	1450	c.594G>T	c.(592-594)ggG>ggT	p.G198G	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	198					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.G198G(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCACCTTCACCCCAAAGTAGG	0.458000													73	106					3.82274e-22	6.04864e-22	0.014410	1	0
NPL	80896	broad.mit.edu	37	1	182791305	182791305	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:182791305A>G	ENST00000367554.3	+	9	970	c.652A>G	c.(652-654)Aag>Gag	p.K218E	NPL_ENST00000258317.2_Missense_Mutation_p.K237E|NPL_ENST00000367555.1_Intron|NPL_ENST00000367552.2_Intron|NPL_ENST00000367553.1_Missense_Mutation_p.K237E|NPL_ENST00000463899.1_3'UTR	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	237					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity	p.K237E(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TTTTGAACAAAAGGACTTCTC	0.393000													4	47					0	0	0.009096	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870966	12870966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr12:12870966C>T	ENST00000228872.4	+	1	909	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.Q65*	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	65					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	p.Q65*(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TTTCGATTTTCAGAATCACAA	0.582000													57	85					0	0	0.014410	0	0
MC2R	4158	broad.mit.edu	37	18	13884810	13884810	+	Silent	SNP	C	C	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr18:13884810C>T	ENST00000327606.3	-	2	888	c.708G>A	c.(706-708)gtG>gtA	p.V236V		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	236					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.V236V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGACATGAAGCACAAAGGGGG	0.547000													10	41					0	0	0.006214	0	0
FSCB	84075	broad.mit.edu	37	14	44975251	44975251	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr14:44975251C>A	ENST00000340446.4	-	1	1231	c.940G>T	c.(940-942)Gtt>Ttt	p.V314F		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	314						cilium		p.V314F(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTTAACAGAATTCTCC	0.522000													13	66					5.50884e-06	6.75103e-06	0.013537	1	0
MYBPC1	4604	broad.mit.edu	37	12	102036302	102036302	+	Silent	SNP	C	C	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr12:102036302C>G	ENST00000549145.1	+	10	835	c.735C>G	c.(733-735)acC>acG	p.T245T	MYBPC1_ENST00000536007.1_Silent_p.T213T|MYBPC1_ENST00000550270.1_Silent_p.T232T|MYBPC1_ENST00000553190.1_Silent_p.T232T|MYBPC1_ENST00000551300.1_Silent_p.T133T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Silent_p.T218T|MYBPC1_ENST00000547405.1_Silent_p.T206T|MYBPC1_ENST00000545503.2_Silent_p.T232T|MYBPC1_ENST00000541119.1_Silent_p.T220T|MYBPC1_ENST00000452455.2_Silent_p.T232T|MYBPC1_ENST00000441232.1_Silent_p.T232T|MYBPC1_ENST00000392934.3_Silent_p.T219T|MYBPC1_ENST00000361685.2_Silent_p.T257T|MYBPC1_ENST00000361466.2_Silent_p.T257T|MYBPC1_ENST00000360610.2_Silent_p.T232T			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	232				MR -> SI (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.T232T(1)|p.T257T(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGGAATCACCGACCTGCGCG	0.617000													9	62					0	0	0.004482	0	0
COL11A1	1301	broad.mit.edu	37	1	103431093	103431093	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:103431093A>T	ENST00000358392.2	-	38	3219	c.2902T>A	c.(2902-2904)Ttt>Att	p.F968I	COL11A1_ENST00000353414.4_Missense_Mutation_p.F917I|COL11A1_ENST00000370096.3_Missense_Mutation_p.F956I|COL11A1_ENST00000512756.1_Missense_Mutation_p.F840I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	956	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.F956I(1)|p.F968I(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGCCTTGAAATCCCTAAGGA	0.383000													27	87					0	0	0.008361	0	0
ZFP30	22835	broad.mit.edu	37	19	38126075	38126075	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:38126075T>C	ENST00000351218.2	-	6	1924	c.1367A>G	c.(1366-1368)cAt>cGt	p.H456R	ZFP30_ENST00000514101.2_Missense_Mutation_p.H456R|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.H456R	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H456R(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATACTTTGATGTTGGGTAAG	0.373000													19	51					0	0	0.006122	0	0
CAGE1	285782	broad.mit.edu	37	6	7334277	7334277	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:7334277T>A	ENST00000502583.1	-	12	2980	c.2416A>T	c.(2416-2418)Aga>Tga	p.R806*	CAGE1_ENST00000338150.4_Nonsense_Mutation_p.R771*|CAGE1_ENST00000512086.1_Nonsense_Mutation_p.R744*|CAGE1_ENST00000296742.7_Nonsense_Mutation_p.R608*|SSR1_ENST00000488834.1_5'UTR|CAGE1_ENST00000379918.4_Nonsense_Mutation_p.R784*	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	744								p.R771*(1)|p.R806*(1)|p.R608*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GCTTTTTCTCTGGGCTTTCTA	0.318000													3	10					0	0	0.009096	0	0
SALL4	57167	broad.mit.edu	37	20	50418834	50418834	+	Silent	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr20:50418834G>T	ENST00000217086.4	-	1	225	c.114C>A	c.(112-114)ccC>ccA	p.P38P	SALL4_ENST00000371539.3_Silent_p.P38P|SALL4_ENST00000395997.3_Silent_p.P38P	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	38					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P38P(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						cccccgccgcgggcgccgctg	0.741000													3	21					0.004672	0.00510044	0.004672	1	0
CT47B1	643311	broad.mit.edu	37	X	120008904	120008904	+	Silent	SNP	C	C	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chrX:120008904C>A	ENST00000371311.3	-	1	875	c.621G>T	c.(619-621)gtG>gtT	p.V207V		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	207								p.V207V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGTCAGCTGGCACTGCAGGCT	0.706000													9	84					0.00621372	0.0067248	0.006214	1	0
SIRPB1	10326	broad.mit.edu	37	20	1592052	1592052	+	Silent	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr20:1592052G>A	ENST00000279477.7	-	2	448	c.384C>T	c.(382-384)ccC>ccT	p.P128P	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Silent_p.P128P	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	128	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCACGTGGTCGGGGCTCCCTT	0.527000													3	26					0	0	0.009096	0	0
MAGI2	9863	broad.mit.edu	37	7	77762279	77762279	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr7:77762279G>T	ENST00000354212.4	-	18	3383	c.3130C>A	c.(3130-3132)Cca>Aca	p.P1044T	MAGI2_ENST00000522391.1_Missense_Mutation_p.P1044T|MAGI2_ENST00000419488.1_Missense_Mutation_p.P1030T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1044	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding	p.P1044T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGGGTGGCTGGGCTTGGCTGG	0.592000													127	283					1.41444e-48	2.43869e-48	0.014410	1	0
TRIM36	55521	broad.mit.edu	37	5	114482982	114482982	+	Silent	SNP	G	G	A	rs139015715	byFrequency	TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr5:114482982G>A	ENST00000513154.1	-	3	698	c.372C>T	c.(370-372)ttC>ttT	p.F124F	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000282369.3_Silent_p.F136F|TRIM36_ENST00000515104.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	136						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.F136F(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTTCCAAAGTGAAGTTTCGAA	0.458000													11	134					0	0	0.008291	0	0
OR13C8	138802	broad.mit.edu	37	9	107332316	107332316	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr9:107332316A>G	ENST00000335040.1	+	1	868	c.868A>G	c.(868-870)Atg>Gtg	p.M290V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M290V(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GATGACTCCCATGCTTAATCC	0.408000													24	55					0	0	0.014323	0	0
OR51A4	401666	broad.mit.edu	37	11	4967862	4967862	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr11:4967862G>C	ENST00000380373.2	-	1	494	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L157V(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAAGAACCAGGAGCATGCTC	0.433000													8	387					0	0	0.004990	0	0
ATXN2	6311	broad.mit.edu	37	12	111951340	111951340	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr12:111951340G>A	ENST00000377617.3	-	11	2020	c.1859C>T	c.(1858-1860)cCt>cTt	p.P620L	ATXN2_ENST00000535949.1_Missense_Mutation_p.P331L|ATXN2_ENST00000550104.1_Missense_Mutation_p.P620L|ATXN2_ENST00000542287.2_Missense_Mutation_p.P355L|ATXN2_ENST00000389153.4_Missense_Mutation_p.P355L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	620	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	p.P620L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CATCCTTGGAGGCCCTAAGGA	0.458000													9	38					0	0	0.008291	0	0
MXRA5	25878	broad.mit.edu	37	X	3238683	3238683	+	Silent	SNP	G	G	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chrX:3238683G>T	ENST00000217939.6	-	5	5197	c.5043C>A	c.(5041-5043)ccC>ccA	p.P1681P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1681						extracellular region		p.P1681P(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAGGAATGCTGGGTTTGGACA	0.418000													60	93					1.84395e-34	3.11478e-34	0.014410	1	0
TCHH	7062	broad.mit.edu	37	1	152079909	152079909	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:152079909G>C	ENST00000368804.1	-	2	5783	c.5784C>G	c.(5782-5784)agC>agG	p.S1928R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1928					keratinization	cytoskeleton	calcium ion binding	p.S1928R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATAGAGAGGGCTGGAGCGCA	0.542000													9	191					0	0	0.006214	0	0
CACNA1E	777	broad.mit.edu	37	1	181725171	181725171	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:181725171delA	ENST00000526775.1	+	28	4177	c.4012delA	c.(4012-4014)acfs	p.N1338fs	CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.N1308fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.N1357fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.N1289fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.N1338fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.N1357fs|CACNA1E_ENST00000367567.4_Frame_Shift_Del_p.N964fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1357					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCACTACGACAACATTATCTG	0.498													14	40	---	---	---	---					
RPS6KC1	26750	broad.mit.edu	37	1	213445938	213445939	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr1:213445938_213445939insT	ENST00000366960.3	+	15	3312_3313	c.3162_3163insT	c.(3160-3165)ccttttfs	p.PF1054fs	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Frame_Shift_Ins_p.PF1042fs|RPS6KC1_ENST00000543470.1_Frame_Shift_Ins_p.PF842fs	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1054	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATCTCATCCATTTTTTACCCC	0.441													11	137	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	RNA	DEL	T	T	-	rs2005502	by1000genomes	TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244													2	4	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179588160	179588160	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr2:179588160delG	ENST00000589042.1	-	74	21891	c.21667delC	c.(21667-21669)gtfs	p.R7223fs	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.R5979fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.R6906fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6906	Ig-like 54.						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)			ACAAAGAGACGGGTAGTGCAA	0.413													12	36	---	---	---	---					
SPDL1	54908	broad.mit.edu	37	5	169023598	169023599	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr5:169023598_169023599delTC	ENST00000265295.4	+	8	1204_1205	c.925_926delTC	c.(925-927)tfs	p.S309fs		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GATGAAAGGGTCTCAAACTGAA	0.347													25	82	---	---	---	---					
SMOC2	64094	broad.mit.edu	37	6	169053663	169053663	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr6:169053663delT	ENST00000354536.5	+	11	1293	c.1073delT	c.(1072-1074)cafs	p.L358fs	SMOC2_ENST00000356284.2_Frame_Shift_Del_p.L347fs	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	347	EF-hand 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AGCCATACCCTAGAGGAGCGG	0.542													9	48	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													7	162	---	---	---	---					
GOLGA2P5	55592	broad.mit.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406													3	4	---	---	---	---					
ARID4A	5926	broad.mit.edu	37	14	58825910	58825911	+	Frame_Shift_Ins	INS	-	-	A	rs151278543		TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr14:58825910_58825911insA	ENST00000355431.3	+	18	2287_2288	c.1914_1915insA	c.(1912-1917)aaaaaafs	p.KK638fs	ARID4A_ENST00000431317.2_Frame_Shift_Ins_p.KK638fs|ARID4A_ENST00000395168.3_Frame_Shift_Ins_p.KK638fs|ARID4A_ENST00000348476.3_Frame_Shift_Ins_p.KK638fs	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	638					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.K638K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTGGACCAAAGAAAAAACAGAA	0.292													29	78	---	---	---	---					
TDP1	55775	broad.mit.edu	37	14	90455406	90455415	+	Frame_Shift_Del	DEL	CAGGAAAAAG	CAGGAAAAAG	-			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr14:90455406_90455415delCAGGAAAAAG	ENST00000335725.4	+	11	1539_1548	c.1289_1298delCAGGAAAAAG	c.(1288-1299)ccfs	p.PGKS430fs	TDP1_ENST00000393454.2_Frame_Shift_Del_p.PGKS430fs|TDP1_ENST00000555880.1_Frame_Shift_Del_p.PGKS430fs|TDP1_ENST00000393452.3_Frame_Shift_Del_p.PGKS430fs|TDP1_ENST00000357382.3_Frame_Shift_Del_p.PGKS191fs	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	430					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AGCAAGACTCCAGGAAAAAGCTCTGTTCCT	0.424								Repair of DNA-protein crosslinks					9	89	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25465467	25465469	+	RNA	DEL	GAA	GAA	-			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:25465467_25465469delGAA	ENST00000424208.1	+	0	3039				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGGTGAGACCGAAGAAGACTTGC	0.581													11	9	---	---	---	---					
FURIN	5045	broad.mit.edu	37	15	91425068	91425073	+	In_Frame_Del	DEL	GCGAGA	GCGAGA	-			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr15:91425068_91425073delGCGAGA	ENST00000268171.3	+	16	2624_2629	c.2345_2350delGCGAGA	c.(2344-2352)ggg>g	p.GER782del		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	782					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.G782fs*>13(2)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GAGGGCCGGGGCGAGAGGACCGCCTT	0.597													8	68	---	---	---	---					
ZSWIM4	65249	broad.mit.edu	37	19	13941261	13941261	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr19:13941261delC	ENST00000254323.2	+	13	2556	c.2367delC	c.(2365-2367)tafs	p.Y789fs	ZSWIM4_ENST00000440752.2_Frame_Shift_Del_p.Y623fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	789							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGGCGGCCTACCAGATCGTGC	0.692													39	77	---	---	---	---					
SEPT3	55964	broad.mit.edu	37	22	42392949	42392949	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chr22:42392949delC	ENST00000396426.3	+	11	1310	c.1055delC	c.(1054-1056)acfs	p.T352fs	SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Frame_Shift_Del_p.T288fs|SEPT3_ENST00000396425.3_3'UTR	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	352					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GTGCCAGCCACCCCCTGCCCC	0.587													36	124	---	---	---	---					
TXLNGY	246126	broad.mit.edu	37	Y	21758039	21758039	+	RNA	DEL	A	A	-			TCGA-50-5072-01A-21D-1855-08	TCGA-50-5072-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c6dcba5-1312-40ca-b589-07f7d88b3477	96a904cf-e50e-4320-8d23-2dd095845c5e	g.chrY:21758039delA	ENST00000253320.4	+	0	3120							Q9BZA5	CY15A_HUMAN												haematopoietic_and_lymphoid_tissue(1)	1						TACTTCTTGGAAAAAAAAAAA	0.378													2	4	---	---	---	---					
