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
SYNJ1	8867	broad.mit.edu	37	21	34022503	34022503	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr21:34022503C>G	ENST00000382499.2	-	23	3144	c.3145G>C	c.(3145-3147)Gat>Cat	p.D1049H	SYNJ1_ENST00000382491.3_Missense_Mutation_p.D1005H|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D1049H|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D1010H|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D1010H	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1010	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCTTCCATATCAAAATCTGCT	0.348000													11	51					0	0	0.069234	0	0
OR5F1	338674	broad.mit.edu	37	11	55761547	55761547	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:55761547G>C	ENST00000278409.1	-	1	554	c.555C>G	c.(553-555)ttC>ttG	p.F185L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAGAGCTTGAAAAGTGGGG	0.453000													19	24					0	0	0.175082	0	0
TP53BP1	7158	broad.mit.edu	37	15	43783907	43783907	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr15:43783907G>T	ENST00000263801.3	-	4	568	c.316C>A	c.(316-318)Cag>Aag	p.Q106K	TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q111K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q111K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q111K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	106					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCAATGACCTGACTGATGGAA	0.363000								Other conserved DNA damage response genes					60	56					3.77215e-22	3.9983e-22	0.139131	1	0
MAN2A1	4124	broad.mit.edu	37	5	109191003	109191003	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:109191003C>T	ENST00000261483.4	+	20	4191	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1047					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTGTGACATTCATCTGGTTAA	0.353000													7	23					0	0	0.029380	0	0
IQCA1	79781	broad.mit.edu	37	2	237405986	237405986	+	Silent	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:237405986G>T	ENST00000409907.3	-	2	430	c.156C>A	c.(154-156)atC>atA	p.I52I	IQCA1_ENST00000309507.5_Silent_p.I48I|IQCA1_ENST00000431676.2_Silent_p.I52I	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	52							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GGTTTCTAAAGATCTGCACAT	0.453000													9	8					9.70103e-10	1.00418e-09	0.069234	1	0
DSG3	1830	broad.mit.edu	37	18	29055783	29055783	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:29055783A>T	ENST00000257189.4	+	16	2643	c.2560A>T	c.(2560-2562)Aaa>Taa	p.K854*		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	854					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCCAAATTTAAAAAACTTGC	0.488000													5	44					0	0	0.184627	0	0
PAPPA2	60676	broad.mit.edu	37	1	176680989	176680989	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:176680989C>G	ENST00000367662.3	+	12	4834	c.3670C>G	c.(3670-3672)Cca>Gca	p.P1224A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1224					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCATACCATCCAGATTTACC	0.438000													16	76					0	0	0.132662	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151196878	151196878	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:151196878C>G	ENST00000368888.4	+	3	574	c.152C>G	c.(151-153)tCa>tGa	p.S51*	PIP5K1A_ENST00000409426.1_Intron|PIP5K1A_ENST00000441902.2_Intron|PIP5K1A_ENST00000368890.4_Intron	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	51					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTACATCTCATTGGTAGGC	0.299000													64	87					0	0	0.139131	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284000													6	67					0	0	0.021553	0	0
CCDC92	80212	broad.mit.edu	37	12	124421829	124421829	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:124421829T>A	ENST00000545135.1	-	3	4017	c.721A>T	c.(721-723)Atc>Ttc	p.I241F	CCDC92_ENST00000545891.1_Missense_Mutation_p.I241F|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.I258F			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	258										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CTCTCTTTGATGAGGTGGACC	0.662000													17	22					0	0	0.160694	0	0
CIRH1A	84916	broad.mit.edu	37	16	69189854	69189854	+	Silent	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:69189854C>G	ENST00000563094.1	+	11	1279	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L	CIRH1A_ENST00000314423.7_Silent_p.L415L|CIRH1A_ENST00000352319.4_Intron			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	415						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GGTTTTTTCTCTATCGGCTGA	0.388000													26	40					0	0	0.108266	0	0
TSPAN2	10100	broad.mit.edu	37	1	115600188	115600188	+	Silent	SNP	A	A	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:115600188A>G	ENST00000369516.2	-	6	517	c.486T>C	c.(484-486)ccT>ccC	p.P162P	TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369514.2_Silent_p.P162P|TSPAN2_ENST00000369515.2_Silent_p.P137P	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	162						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TTGGGCATGTAGGTTGGACCT	0.478000													47	76					0	0	0.139131	0	0
C11orf65	160140	broad.mit.edu	37	11	108253773	108253773	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:108253773G>A	ENST00000393084.1	-	9	986	c.917C>T	c.(916-918)aCg>aTg	p.T306M	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000529391.1_Missense_Mutation_p.T306M	NM_152587.3	NP_689800.3	Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	306										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AGAATCAGGCGTTAATCTAGT	0.328000													12	36					0	0	0.080935	0	0
GALNT11	63917	broad.mit.edu	37	7	151810446	151810446	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:151810446C>T	ENST00000434507.1	+	10	1633	c.1196C>T	c.(1195-1197)tCt>tTt	p.S399F	GALNT11_ENST00000320311.2_Missense_Mutation_p.S399F|GALNT11_ENST00000430044.2_Missense_Mutation_p.S399F|GALNT11_ENST00000452146.2_Missense_Mutation_p.S318F			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	399						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ACACACAACTCTTTGCGGCTG	0.473000													23	36					0	0	0.062417	0	0
ABTB1	80325	broad.mit.edu	37	3	127399294	127399294	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:127399294C>T	ENST00000468137.1	+	11	1603	c.987C>T	c.(985-987)ctC>ctT	p.L329L	ABTB1_ENST00000393363.3_Silent_p.L329L|ABTB1_ENST00000453791.2_Silent_p.L329L|ABTB1_ENST00000232744.8_Silent_p.L471L			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	471	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						AGGACCTGCTCGTGTCCATCG	0.637000													4	6					0	0	0.150653	0	0
IGHV3-72	28410	broad.mit.edu	37	14	107199024	107199024	+	RNA	SNP	A	A	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr14:107199024A>G	ENST00000433072.2	-	0	344																											GAGATGGTGAATCTGCCTTTC	0.512000													15	61					0	0	0.132662	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697267	153697267	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:153697267G>C	ENST00000369682.3	+	25	4564	c.4389G>C	c.(4387-4389)ctG>ctC	p.L1463L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1463					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATACTCCCTGAGCGAGGACA	0.622000													36	4					0	0	0.080422	0	0
XPO6	23214	broad.mit.edu	37	16	28167402	28167402	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:28167402C>T	ENST00000304658.5	-	7	1590	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	XPO6_ENST00000561488.1_5'UTR|XPO6_ENST00000565698.1_Missense_Mutation_p.D350N	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	364					protein export from nucleus		protein binding|protein transporter activity	p.D364N(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TACCTCTCATCGAGCTCTTCT	0.483000													3	29					0	0	0.115264	0	0
TTC18	118491	broad.mit.edu	37	10	75114497	75114497	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:75114497C>G	ENST00000310715.3	-	2	178	c.58G>C	c.(58-60)Gat>Cat	p.D20H	TTC18_ENST00000340329.3_Missense_Mutation_p.D20H|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.D20H|TTC18_ENST00000394865.1_Missense_Mutation_p.D20H|TTC18_ENST00000355577.3_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	20							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTTACCAAATCATATCCCTCT	0.438000													4	12					0	0	0.184627	0	0
ABCA8	10351	broad.mit.edu	37	17	66881391	66881391	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:66881391G>A	ENST00000269080.2	-	25	3512	c.3375C>T	c.(3373-3375)ttC>ttT	p.F1125F	ABCA8_ENST00000430352.2_Silent_p.F1165F|ABCA8_ENST00000586539.1_Silent_p.F1165F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1125						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTAAAAAAGTGAAGATAAATG	0.383000													20	24					0	0	0.189662	0	0
MVP	9961	broad.mit.edu	37	16	29858617	29858617	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:29858617G>A	ENST00000357402.5	+	14	2503	c.2365G>A	c.(2365-2367)Gag>Aag	p.E789K	MVP_ENST00000395353.1_Missense_Mutation_p.E789K	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	789					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCAGCTGGCTGAGGTGGAGGT	0.617000													22	30					0	0	0.055883	0	0
FBXL2	25827	broad.mit.edu	37	3	33427033	33427033	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:33427033C>T	ENST00000484457.1	+	15	1296	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Missense_Mutation_p.P143L|FBXL2_ENST00000538892.1_Missense_Mutation_p.P334L|FBXL2_ENST00000538181.1_Missense_Mutation_p.P318L|FBXL2_ENST00000507198.1_Missense_Mutation_p.P334L|FBXL2_ENST00000542085.1_Missense_Mutation_p.P112L	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	402					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TACTTTGCTCCCGTCACCCCA	0.522000													32	219					0	0	0.214465	0	0
PFKFB3	5209	broad.mit.edu	37	10	6263667	6263667	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:6263667C>T	ENST00000379775.4	+	10	1372	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000317350.4_Missense_Mutation_p.R348W|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R328W|PFKFB3_ENST00000379785.1_Missense_Mutation_p.R348W|PFKFB3_ENST00000379782.3_Missense_Mutation_p.R348W|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R362W|PFKFB3_ENST00000360521.2_Missense_Mutation_p.R348W	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	348	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GTATGCGCTGCGGGAGCAGGA	0.637000													7	6					0	0	0.038147	0	0
NID2	22795	broad.mit.edu	37	14	52481892	52481892	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr14:52481892C>T	ENST00000216286.5	-	15	3129	c.3130G>A	c.(3130-3132)Gat>Aat	p.D1044N	NID2_ENST00000541773.1_Missense_Mutation_p.D943N	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1044	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCCAGGTCATCGCACTGGGGC	0.647000													20	39					0	0	0.069288	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097969	43097969	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:43097969C>G	ENST00000244336.5	-	2	249	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	50	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AGAAGAACCTCCTTCCCCTCT	0.532000													53	83					0	0	0.139131	0	0
MUC16	94025	broad.mit.edu	37	19	9071052	9071052	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:9071052G>T	ENST00000397910.4	-	3	16597	c.16394C>A	c.(16393-16395)tCc>tAc	p.S5465Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5467	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTGATGTGGAAACACTTGT	0.498000													46	56					7.05121e-23	7.49191e-23	0.117977	1	0
CUEDC2	79004	broad.mit.edu	37	10	104184263	104184263	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:104184263C>A	ENST00000369937.4	-	4	418	c.273G>T	c.(271-273)agG>agT	p.R91S		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	91						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CACCTTTGTTCCTGGCATCGC	0.562000													32	53					2.42023e-17	2.55308e-17	0.183431	1	0
MVP	9961	broad.mit.edu	37	16	29858532	29858532	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:29858532G>A	ENST00000357402.5	+	14	2418	c.2280G>A	c.(2278-2280)caG>caA	p.Q760Q	MVP_ENST00000395353.1_Silent_p.Q760Q	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	760					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTGAGCTCCAGAGGGTCCAGA	0.557000													36	48					0	0	0.193644	0	0
ZNF532	55205	broad.mit.edu	37	18	56586641	56586641	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:56586641G>C	ENST00000336078.4	+	4	1898	c.1122G>C	c.(1120-1122)aaG>aaC	p.K374N	ZNF532_ENST00000591083.1_Missense_Mutation_p.K374N|ZNF532_ENST00000591808.1_Missense_Mutation_p.K374N|ZNF532_ENST00000591230.1_Missense_Mutation_p.K374N|ZNF532_ENST00000589288.1_Missense_Mutation_p.K374N	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GGGAAATCAAGAGAACAGTGA	0.517000													14	23					0	0	0.119110	0	0
SYNE1	23345	broad.mit.edu	37	6	152702360	152702360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:152702360C>T	ENST00000367255.5	-	56	9391	c.8790G>A	c.(8788-8790)tgG>tgA	p.W2930*	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W2930*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W2937*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W2937*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W2969*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2930					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCACTGCTTCCAGTCGGCAC	0.572000										HNSCC(10;0.0054)			41	29					0	0	0.104719	0	0
OTUD7B	56957	broad.mit.edu	37	1	149915893	149915893	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:149915893G>C	ENST00000369135.4	-	12	2689	c.2395C>G	c.(2395-2397)Cag>Gag	p.Q799E		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CATTTGGTCTGAGTTGGGGGA	0.557000													61	38					0	0	0.139131	0	0
OR4N4	283694	broad.mit.edu	37	15	22383370	22383370	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr15:22383370A>T	ENST00000328795.4	+	1	989	c.898A>T	c.(898-900)Agg>Tgg	p.R300W	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCCATGAAGAGGTTATTGAG	0.378000													17	52					0	0	0.160694	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224844	26224844	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:26224844C>G	ENST00000056233.3	+	4	1785	c.1526C>G	c.(1525-1527)tCt>tGt	p.S509C		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	509					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCACCAGAATCTACTTCTGAA	0.428000													12	65					0	0	0.093190	0	0
HFM1	164045	broad.mit.edu	37	1	91781371	91781371	+	Splice_Site	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:91781371C>T	ENST00000370425.3	-	28	3239		c.e28+1		HFM1_ENST00000462405.1_Splice_Site|HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCACACTTACGTAATCTTGT	0.313000													4	27					0	0	0.150653	0	0
TBKBP1	9755	broad.mit.edu	37	17	45785837	45785837	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:45785837G>A	ENST00000361722.3	+	7	1799	c.950G>A	c.(949-951)aGa>aAa	p.R317K		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	317					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						CTACAGGGGAGAATCTTGAGG	0.652000													15	27					0	0	0.146539	0	0
SHANK1	50944	broad.mit.edu	37	19	51169893	51169893	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:51169893C>T	ENST00000293441.1	-	22	5342	c.5324G>A	c.(5323-5325)gGa>gAa	p.G1775E	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.G1766E|SHANK1_ENST00000391814.1_Missense_Mutation_p.G1783E|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1162E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1775					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCTCGGAGTCCCCCGCTGGG	0.711000													3	1					0	0	0.115264	0	0
DMD	1756	broad.mit.edu	37	X	31140029	31140029	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:31140029A>G	ENST00000359836.1	-	34	4654	c.3614T>C	c.(3613-3615)cTt>cCt	p.L1205P	DMD_ENST00000541735.1_3'UTR|DMD_ENST00000378677.2_3'UTR|DMD_ENST00000474231.1_Missense_Mutation_p.L1218P|DMD_ENST00000378707.3_3'UTR|DMD_ENST00000378702.4_3'UTR|DMD_ENST00000378723.3_Missense_Mutation_p.L610P|DMD_ENST00000343523.2_Missense_Mutation_p.L1108P|DMD_ENST00000361471.4_Missense_Mutation_p.L597P|DMD_ENST00000378680.2_Missense_Mutation_p.L500P|DMD_ENST00000357033.4_3'UTR	NM_004022.2	NP_004013	P11532	DMD_HUMAN	dystrophin	0					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATGTGGAAAAGACTTCCTAC	0.403000													3	39					0	0	0.150653	0	0
PXDN	7837	broad.mit.edu	37	2	1680817	1680817	+	Splice_Site	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:1680817C>T	ENST00000252804.4	-	8	781		c.e8-1			NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)						extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGGGGCCTTTCTGTGCCCAAC	0.512000													6	7					0	0	0.021553	0	0
KANK2	25959	broad.mit.edu	37	19	11303664	11303664	+	Silent	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:11303664C>G	ENST00000432929.2	-	4	1452	c.1092G>C	c.(1090-1092)ctG>ctC	p.L364L	KANK2_ENST00000589359.1_Silent_p.L364L|KANK2_ENST00000586659.1_Silent_p.L364L|KANK2_ENST00000355150.5_Silent_p.L364L|KANK2_ENST00000589894.1_Silent_p.L364L	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	364										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGGGCCCTCAGCCCTGTGC	0.692000													22	23					0	0	0.069288	0	0
NEK4	6787	broad.mit.edu	37	3	52786001	52786001	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:52786001C>T	ENST00000233027.5	-	7	1517	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	NEK4_ENST00000383721.4_Missense_Mutation_p.E439K|NEK4_ENST00000535191.1_Missense_Mutation_p.E350K	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	439					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTCACTGGTTCATTCTTTTCC	0.478000													23	93					0	0	0.076483	0	0
EIF2B4	8890	broad.mit.edu	37	2	27592052	27592052	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:27592052G>C	ENST00000493344.2	-	3	614	c.302C>G	c.(301-303)tCg>tGg	p.S101W	EIF2B4_ENST00000347454.4_Missense_Mutation_p.S80W|EIF2B4_ENST00000451130.2_Missense_Mutation_p.S100W|EIF2B4_ENST00000445933.2_Missense_Mutation_p.S79W			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	80					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAATGCCCGATTCTGGCAG	0.552000													14	61					0	0	0.119110	0	0
PTPN21	11099	broad.mit.edu	37	14	88946208	88946208	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr14:88946208G>C	ENST00000556564.1	-	13	1851	c.1567C>G	c.(1567-1569)Ccc>Gcc	p.P523A	PTPN21_ENST00000328736.3_Missense_Mutation_p.P523A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	523						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAGGGGTAGGGAGACGGGCTG	0.701000													10	28					0	0	0.058154	0	0
PPTC7	160760	broad.mit.edu	37	12	110977737	110977737	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:110977737C>G	ENST00000354300.3	-	4	904	c.616G>C	c.(616-618)Gat>Cat	p.D206H		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	206	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GACGTGCTATCAGCAGCATCC	0.448000													18	30					0	0	0.175082	0	0
UNC5D	137970	broad.mit.edu	37	8	35583866	35583866	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr8:35583866G>A	ENST00000287272.2	+	9	1313	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	UNC5D_ENST00000416672.1_Silent_p.E505E|UNC5D_ENST00000449677.1_Silent_p.E76E|UNC5D_ENST00000404895.2_Silent_p.E500E|UNC5D_ENST00000420357.1_Silent_p.E433E|UNC5D_ENST00000453357.2_Silent_p.E495E			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	500					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGAGAGCTGAGTACCACGGCA	0.458000													5	17					0	0	0.184627	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650804	43650804	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:43650804G>C	ENST00000374466.3	+	2	542	c.207G>C	c.(205-207)caG>caC	p.Q69H	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.Q69H	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	69					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AACATTATCAGACCAGGGCAA	0.423000													7	11					0	0	0.029380	0	0
NEIL2	252969	broad.mit.edu	37	8	11637248	11637248	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr8:11637248G>A	ENST00000284503.6	+	3	879	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	NEIL2_ENST00000455213.2_Missense_Mutation_p.G94R|NEIL2_ENST00000403422.3_Missense_Mutation_p.G33R|NEIL2_ENST00000436750.3_Missense_Mutation_p.G94R|NEIL2_ENST00000528323.1_Intron	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	94					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GGAGCCCAGCGGGCAGAAGAC	0.612000								Base excision repair (BER), DNA glycosylases					6	63					0	0	0.021553	0	0
DNAH11	8701	broad.mit.edu	37	7	21908542	21908542	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:21908542G>A	ENST00000328843.6	+	74	11952	c.11921G>A	c.(11920-11922)gGt>gAt	p.G3974D	DNAH11_ENST00000409508.3_Missense_Mutation_p.G3967D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3974	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAGGACAAGGTCAGGAGACG	0.478000									Kartagener syndrome				10	28					0	0	0.058154	0	0
ALPP	250	broad.mit.edu	37	2	233245451	233245451	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:233245451C>T	ENST00000392027.2	+	8	1253	c.984C>T	c.(982-984)ttC>ttT	p.F328F	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	328						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCCGCGGCTTCTTCCTCTTCG	0.647000													11	18					0	0	0.160694	0	0
LSM14B	149986	broad.mit.edu	37	20	60704907	60704907	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:60704907C>T	ENST00000279068.6	+	4	654	c.494C>T	c.(493-495)tCt>tTt	p.S165F	LSM14B_ENST00000253001.4_Intron	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	165					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CAGACTGGTTCTGCTGACAAC	0.577000													4	5					0	0	0.150653	0	0
ABCC2	1244	broad.mit.edu	37	10	101590518	101590518	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:101590518G>T	ENST00000370449.4	+	21	2906	c.2793G>T	c.(2791-2793)ttG>ttT	p.L931F		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	931						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAAACTCCTTGAAAACTCGGA	0.448000													7	22					3.09899e-07	3.18547e-07	0.047766	1	0
VPS72	6944	broad.mit.edu	37	1	151157991	151157991	+	Missense_Mutation	SNP	C	C	T	rs148105499		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:151157991C>T	ENST00000354473.4	-	3	412	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	126					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.G126C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTCAGAGCCGTCATCTTGT	0.448000													23	199					0	0	0.108266	0	0
XIRP2	129446	broad.mit.edu	37	2	168102225	168102225	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:168102225C>T	ENST00000409195.1	+	9	4412	c.4323C>T	c.(4321-4323)gtC>gtT	p.V1441V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.V1441V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V1219V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1266					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGTAAGTGTCAATGAAATAC	0.333000													15	24					0	0	0.119110	0	0
FBXL2	25827	broad.mit.edu	37	3	33427032	33427032	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:33427032C>T	ENST00000484457.1	+	15	1295	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Missense_Mutation_p.P143S|FBXL2_ENST00000538892.1_Missense_Mutation_p.P334S|FBXL2_ENST00000538181.1_Missense_Mutation_p.P318S|FBXL2_ENST00000507198.1_Missense_Mutation_p.P334S|FBXL2_ENST00000542085.1_Missense_Mutation_p.P112S	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	402					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						CTACTTTGCTCCCGTCACCCC	0.517000													33	219					0	0	0.086207	0	0
EIF2B3	8891	broad.mit.edu	37	1	45347306	45347306	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:45347306C>G	ENST00000360403.2	-	7	888	c.762G>C	c.(760-762)aaG>aaC	p.K254N	EIF2B3_ENST00000372183.3_Missense_Mutation_p.K254N	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	254					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					GCTCCTTTTTCTTTAGATCCT	0.453000													23	131					0	0	0.083992	0	0
OR4X1	390113	broad.mit.edu	37	11	48285684	48285684	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:48285684C>T	ENST00000320048.1	+	1	272	c.272C>T	c.(271-273)tCt>tTt	p.S91F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AAAGTCATTTCTCTCAAGGGC	0.468000													4	27					0	0	0.184627	0	0
C12orf40	283461	broad.mit.edu	37	12	40076742	40076742	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:40076742A>C	ENST00000324616.5	+	8	1170	c.1016A>C	c.(1015-1017)aAc>aCc	p.N339T	C12orf40_ENST00000398716.1_Missense_Mutation_p.N262T|C12orf40_ENST00000405531.3_Missense_Mutation_p.N339T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	339										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCTGATAAAAACCATGTCACT	0.308000													4	30					0	0	0.150653	0	0
PHACTR3	116154	broad.mit.edu	37	20	58381187	58381187	+	Silent	SNP	C	C	T	rs141986640		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:58381187C>T	ENST00000371015.1	+	8	1733	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	PHACTR3_ENST00000359926.3_Silent_p.F419F|PHACTR3_ENST00000395636.2_Silent_p.F381F|PHACTR3_ENST00000395639.4_Silent_p.F311F|PHACTR3_ENST00000355648.4_Silent_p.F381F|PHACTR3_ENST00000541461.1_Silent_p.F381F|PHACTR3_ENST00000361300.4_Silent_p.F311F	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	422						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGAACATTTTCCCCAGAAGGA	0.542000													49	57					0	0	0.131918	0	0
TAGLN	6876	broad.mit.edu	37	11	117074163	117074163	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:117074163C>T	ENST00000532870.1	+	2	1462	c.321C>T	c.(319-321)atC>atT	p.I107I	TAGLN_ENST00000530649.1_Silent_p.I107I|TAGLN_ENST00000392951.4_Silent_p.I107I			Q01995	TAGL_HUMAN	transgelin	107	CH.				muscle organ development	cytoplasm	actin binding			central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		ATGGGGTCATCAAGACTGACA	0.592000													39	14					0	0	0.214465	0	0
OR2L2	26246	broad.mit.edu	37	1	248201927	248201927	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:248201927G>A	ENST00000366479.2	+	1	454	c.358G>A	c.(358-360)Gat>Aat	p.D120N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AATGGCCTATGATCGTTATGT	0.433000													24	115					0	0	0.108266	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254341	1254341	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:1254341C>T	ENST00000348261.5	+	10	2582	c.2334C>T	c.(2332-2334)ctC>ctT	p.L778L	CACNA1H_ENST00000358590.4_Silent_p.L778L|CACNA1H_ENST00000565831.1_Silent_p.L778L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	778					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGGGCCGCCTCTGGGTTACCT	0.687000													12	8					0	0	0.093190	0	0
PARP3	10039	broad.mit.edu	37	3	51979111	51979111	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:51979111G>A	ENST00000417220.2	+	7	1220	c.732G>A	c.(730-732)acG>acA	p.T244T	PARP3_ENST00000398755.3_Silent_p.T251T|PARP3_ENST00000431474.1_Silent_p.T244T			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	244	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGGCCCCACGGATGGTGGCC	0.602000													36	34					0	0	0.214465	0	0
FAM102B	284611	broad.mit.edu	37	1	109159034	109159034	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:109159034G>C	ENST00000370035.3	+	5	776	c.436G>C	c.(436-438)Gac>Cac	p.D146H	FAM102B_ENST00000405454.1_Missense_Mutation_p.D146H	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	146										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GATGTCTGGTGACCCATGTTT	0.264000													13	14					0	0	0.119110	0	0
TAS2R20	259295	broad.mit.edu	37	12	11150472	11150472	+	Translation_Start_Site	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:11150472C>T	ENST00000538986.1	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	1					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GAAAACTCATCATGTCTAAAC	0.328000													3	20					0	0	0.115264	0	0
STON1	11037	broad.mit.edu	37	2	48809385	48809385	+	Missense_Mutation	SNP	G	G	T	rs139601940		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:48809385G>T	ENST00000309835.3	+	1	1623	c.1613G>T	c.(1612-1614)gGa>gTa	p.G538V	STON1_ENST00000404752.1_Missense_Mutation_p.G538V|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.G538V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G538V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G538V|STON1_ENST00000406226.1_Missense_Mutation_p.G538V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G538V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G538V					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGTCCAGGGAGCATACGTG	0.473000													28	39					9.22233e-05	9.4577e-05	0.099896	1	0
GTF3C1	2975	broad.mit.edu	37	16	27503786	27503786	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:27503786G>A	ENST00000356183.4	-	19	3039	c.3024C>T	c.(3022-3024)tgC>tgT	p.C1008C	GTF3C1_ENST00000561623.1_Silent_p.C1008C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1008						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AATGTGGGTCGCAGATGGTAG	0.527000													7	41					0	0	0.038147	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842463	128842463	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:128842463G>A	ENST00000310343.9	-	21	3895	c.3896C>T	c.(3895-3897)aCg>aTg	p.T1299M	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.T950M|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.T950M	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1299					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						AGTTCTGTGCGTGCGCTGAAG	0.552000													19	44					0	0	0.189662	0	0
AFF4	27125	broad.mit.edu	37	5	132216777	132216777	+	Missense_Mutation	SNP	G	G	A	rs112871745		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:132216777G>A	ENST00000265343.5	-	21	3845	c.3466C>T	c.(3466-3468)Cgc>Tgc	p.R1156C		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1156					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCATCCTGGCGAAGCCAGTGC	0.448000													13	23					0	0	0.146539	0	0
RASA4B	100271927	broad.mit.edu	37	7	102136592	102136592	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:102136592G>A	ENST00000465829.1	-	11	1136	c.1066C>T	c.(1066-1068)Ctg>Ttg	p.L356L	RASA4B_ENST00000306682.6_Silent_p.L284L|RASA4B_ENST00000541662.1_Silent_p.L356L|RP11-514P8.8_ENST00000481893.1_RNA					RAS p21 protein activator 4B											skin(1)	1						ctcaCCTTCAGAAAAGACTCC	0.537000													10	86					0	0	0.080935	0	0
FAM107B	83641	broad.mit.edu	37	10	14816390	14816390	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:14816390C>T	ENST00000181796.2	-	1	506	c.273G>A	c.(271-273)cgG>cgA	p.R91R		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0								p.R91R(1)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GACTTGAATTCCGATTCGCAC	0.592000													41	154					0	0	0.124865	0	0
TAAR5	9038	broad.mit.edu	37	6	132910309	132910309	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:132910309C>G	ENST00000258034.2	-	1	568	c.517G>C	c.(517-519)Gat>Cat	p.D173H		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	173					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TCTACCACATCTGTGTAGAGG	0.542000													9	19					0	0	0.047766	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599329	151599329	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:151599329A>C	ENST00000362032.5	+	3	1103	c.998A>C	c.(997-999)gAa>gCa	p.E333A	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TCATTCAGAGAAAAGTGAGGG	0.413000													6	69					0	0	0.021553	0	0
LRFN4	78999	broad.mit.edu	37	11	66627386	66627386	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:66627386G>A	ENST00000309602.4	+	2	1871	c.1628G>A	c.(1627-1629)gGg>gAg	p.G543E	PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	543						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CGGGGCCGGGGGGCCGGAAAT	0.721000													5	11					0	0	0.021553	0	0
TIMELESS	8914	broad.mit.edu	37	12	56826818	56826818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:56826818G>A	ENST00000229201.4	-	6	677	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	TIMELESS_ENST00000553532.1_Nonsense_Mutation_p.Q175*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.Q175*	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	175					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ACCTTCTCCTGATCAAGGTCA	0.468000													16	19					0	0	0.160694	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927609	92927609	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:92927609G>T	ENST00000373079.3	-	1	958	c.695C>A	c.(694-696)gCt>gAt	p.A232D	NAP1L3_ENST00000475430.2_Missense_Mutation_p.A225D	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	232	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTTTTCTTCAGCCTTTACCTC	0.413000													5	47					0.0215528	0.0217994	0.021553	1	0
MCM7	4176	broad.mit.edu	37	7	99697346	99697346	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:99697346G>A	ENST00000303887.5	-	3	787	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	MCM7_ENST00000343023.6_Silent_p.L48L|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	48					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TCCACATACAGAGCCACCTGT	0.537000													24	50					0	0	0.091800	0	0
KDM5A	5927	broad.mit.edu	37	12	430212	430212	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:430212G>C	ENST00000399788.2	-	18	2852	c.2490C>G	c.(2488-2490)gtC>gtG	p.V830V	KDM5A_ENST00000382815.4_Silent_p.V830V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	830					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AAAGTTGTTGGACAAAGGCCT	0.418000			T	NUP98	AML								37	52					0	0	0.117977	0	0
CDH2	1000	broad.mit.edu	37	18	25591842	25591842	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:25591842A>G	ENST00000269141.3	-	4	937	c.514T>C	c.(514-516)Tcc>Ccc	p.S172P	CDH2_ENST00000399380.3_Missense_Mutation_p.S141P	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	172	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGTCCCCTGGAGTTTTCTGGC	0.418000													6	67					0	0	0.021553	0	0
USP33	23032	broad.mit.edu	37	1	78191394	78191394	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:78191394A>G	ENST00000370793.1	-	12	1628	c.1282T>C	c.(1282-1284)Tca>Cca	p.S428P	USP33_ENST00000357428.1_Missense_Mutation_p.S428P|USP33_ENST00000370792.3_Missense_Mutation_p.S428P|USP33_ENST00000370794.3_Missense_Mutation_p.S397P	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	428				S -> L (in Ref. 3; BAB14279).	axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CCTTCATTTGATGGAAGGATC	0.368000													14	20					0	0	0.119110	0	0
ANKRD10	55608	broad.mit.edu	37	13	111546523	111546523	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr13:111546523G>A	ENST00000375758.5	-	4	616	c.482C>T	c.(481-483)tCt>tTt	p.S161F	ANKRD10_ENST00000489973.2_5'UTR|ANKRD10_ENST00000267339.2_Intron|ANKRD10_ENST00000310847.4_Missense_Mutation_p.S161F			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	58										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			TGGAAGACAAGAATGTACACT	0.378000													19	42					0	0	0.062417	0	0
ACAN	176	broad.mit.edu	37	15	89402382	89402382	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr15:89402382C>T	ENST00000439576.2	+	12	6940	c.6566C>T	c.(6565-6567)cCc>cTc	p.P2189L	ACAN_ENST00000352105.7_Missense_Mutation_p.P2189L|ACAN_ENST00000559004.1_Missense_Mutation_p.P2189L|ACAN_ENST00000561243.1_Missense_Mutation_p.P2189L	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2189					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCAGCCACTCCCACGGCTTCT	0.597000													9	45					0	0	0.047766	0	0
OR5T3	390154	broad.mit.edu	37	11	56020566	56020566	+	Silent	SNP	T	T	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:56020566T>G	ENST00000303059.3	+	1	891	c.891T>G	c.(889-891)gcT>gcG	p.A297A		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CCAGCTATGCTTCAGACCATG	0.393000													6	63					0	0	0.029380	0	0
SPRED2	200734	broad.mit.edu	37	2	65561832	65561832	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:65561832C>T	ENST00000356388.4	-	3	469	c.280G>A	c.(280-282)Gat>Aat	p.D94N	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.D91N	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	94	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TTCCTATTATCGACCTTCCAG	0.453000													16	71					0	0	0.160694	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28116270	28116270	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:28116270G>A	ENST00000330236.6	+	2	269	c.85G>A	c.(85-87)Gag>Aag	p.E29K	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E29K	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		CAAGGTAGAGGAGGATCATGG	0.512000													20	39					0	0	0.062417	0	0
TBX18	9096	broad.mit.edu	37	6	85446793	85446793	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:85446793G>A	ENST00000369663.5	-	8	1771	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	478					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGGGCAGCTGAAGGTGTCCC	0.587000													25	40					0	0	0.076483	0	0
OPA1	4976	broad.mit.edu	37	3	193380641	193380641	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:193380641G>C	ENST00000361510.2	+	26	2785	c.2551G>C	c.(2551-2553)Gag>Cag	p.E851Q	OPA1_ENST00000392438.3_Missense_Mutation_p.E796Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E815Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E797Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E833Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E814Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	796					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GAATGAATTGGAGAAGATGTT	0.368000													17	23					0	0	0.160694	0	0
HMP19	51617	broad.mit.edu	37	5	173534469	173534469	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:173534469C>T	ENST00000303177.3	+	5	739	c.477C>T	c.(475-477)gtC>gtT	p.V159V	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1																					CAGCCGCTGTCATCCATGAGC	0.652000													9	10					0	0	0.058154	0	0
CUBN	8029	broad.mit.edu	37	10	17083112	17083112	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:17083112T>C	ENST00000377833.4	-	27	4002	c.3937A>G	c.(3937-3939)Aca>Gca	p.T1313A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1313	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCCTGTTGTTGCCCGGATG	0.383000													15	156					0	0	0.160694	0	0
CYP3A43	64816	broad.mit.edu	37	7	99459343	99459343	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:99459343G>C	ENST00000354829.2	+	11	1237	c.1134G>C	c.(1132-1134)aaG>aaC	p.K378N	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.K378N|CYP3A43_ENST00000312017.5_Missense_Mutation_p.K378N|CYP3A43_ENST00000342499.4_Missense_Mutation_p.K238N|CYP3A43_ENST00000417625.1_Missense_Mutation_p.K268N|CYP3A43_ENST00000444905.1_Missense_Mutation_p.K125N|CYP3A43_ENST00000415413.1_Missense_Mutation_p.K167N	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	378			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GAGTCTGCAAGAAAGATATTG	0.448000													9	41					0	0	0.058154	0	0
TTN	7273	broad.mit.edu	37	2	179578870	179578870	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:179578870T>A	ENST00000589042.1	-	92	26739	c.26515A>T	c.(26515-26517)Ata>Tta	p.I8839L	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I7595L|TTN_ENST00000591111.1_Missense_Mutation_p.I8522L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8522	Ig-like 71.						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)			GTAACTTTTATGGATTCTGGC	0.383000													7	17					0	0	0.038147	0	0
UBE4A	9354	broad.mit.edu	37	11	118245669	118245669	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:118245669C>T	ENST00000252108.3	+	9	1306	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	UBE4A_ENST00000431736.2_Missense_Mutation_p.S399F	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	392					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTCCAGCTCTCTCCAGAAACC	0.453000													38	10					0	0	0.111260	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186934573	186934573	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:186934573C>T	ENST00000367466.3	+	15	1764	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L	PLA2G4A_ENST00000442353.2_Silent_p.L478L	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	538	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATATGAGCCTCTGGATGTCAA	0.348000													17	47					0	0	0.160694	0	0
DUSP18	150290	broad.mit.edu	37	22	31059977	31059977	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr22:31059977G>A	ENST00000403268.1	-	2	484	c.14C>T	c.(13-15)tCg>tTg	p.S5L	DUSP18_ENST00000407308.1_Missense_Mutation_p.S5L|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Missense_Mutation_p.S5L|DUSP18_ENST00000334679.3_Missense_Mutation_p.S5L			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	5						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						GAAGGCACACGAGGGTGCTGT	0.567000													3	14					0	0	0.115264	0	0
NCOA1	8648	broad.mit.edu	37	2	24930593	24930593	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:24930593C>G	ENST00000405141.1	+	14	2965	c.2254C>G	c.(2254-2256)Ctt>Gtt	p.L752V	NCOA1_ENST00000348332.3_Missense_Mutation_p.L752V|NCOA1_ENST00000288599.5_Missense_Mutation_p.L752V|NCOA1_ENST00000407230.1_Missense_Mutation_p.L601V|NCOA1_ENST00000395856.3_Missense_Mutation_p.L752V|NCOA1_ENST00000538539.1_Missense_Mutation_p.L752V|NCOA1_ENST00000406961.1_Missense_Mutation_p.L752V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	752									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTACGCTATCTTTTAGATAA	0.378000			T	PAX3	alveolar rhadomyosarcoma								17	27					0	0	0.175082	0	0
TFPI2	7980	broad.mit.edu	37	7	93516175	93516175	+	Missense_Mutation	SNP	C	C	T	rs145370833		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:93516175C>T	ENST00000222543.5	-	5	977	c.665G>A	c.(664-666)cGc>cAc	p.R222H	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Missense_Mutation_p.R111H	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	222					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			ACTGGCAAAGCGAAGCTTTGG	0.328000													42	46					0	0	0.139131	0	0
MICALL2	79778	broad.mit.edu	37	7	1488389	1488389	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:1488389G>A	ENST00000297508.7	-	3	376	c.201C>T	c.(199-201)cgC>cgT	p.R67R	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	67	CH.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTCGGCCACGCGGAAGGCCT	0.647000													6	74					0	0	0.021553	0	0
USP8	9101	broad.mit.edu	37	15	50757299	50757299	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr15:50757299G>C	ENST00000433963.1	+	8	1097	c.597G>C	c.(595-597)ttG>ttC	p.L199F	USP8_ENST00000425032.3_Missense_Mutation_p.L122F|USP8_ENST00000307179.4_Missense_Mutation_p.L199F|USP8_ENST00000396444.3_Missense_Mutation_p.L199F			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	199	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACATCAGCTTGATTATAATGG	0.408000													28	24					0	0	0.099896	0	0
SYTL2	54843	broad.mit.edu	37	11	85409114	85409114	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:85409114C>G	ENST00000359152.5	-	10	4898	c.4899G>C	c.(4897-4899)aaG>aaC	p.K1633N	SYTL2_ENST00000527523.1_Missense_Mutation_p.K755N|SYTL2_ENST00000528231.1_Missense_Mutation_p.K787N|SYTL2_ENST00000389960.4_Missense_Mutation_p.K763N|SYTL2_ENST00000525702.1_Missense_Mutation_p.K229N|SYTL2_ENST00000316356.4_Missense_Mutation_p.K788N|SYTL2_ENST00000354566.3_Missense_Mutation_p.K1125N|SYTL2_ENST00000533892.1_Missense_Mutation_p.K189N|SYTL2_ENST00000529581.1_Missense_Mutation_p.K229N|SYTL2_ENST00000525423.1_Missense_Mutation_p.K1109N|SYTL2_ENST00000524452.1_Missense_Mutation_p.K763N|SYTL2_ENST00000389958.3_Missense_Mutation_p.K218N	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	787					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGTAGGAAGCTTTTTACCTA	0.403000													19	19					0	0	0.055883	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47602073	47602073	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:47602073C>T	ENST00000371917.4	+	16	2199	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	733	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAGAAGGTTTCCGCCTACCTG	0.483000													18	17					0	0	0.175082	0	0
CIITA	4261	broad.mit.edu	37	16	11016058	11016058	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:11016058G>A	ENST00000324288.8	+	17	3317	c.3184G>A	c.(3184-3186)Gag>Aag	p.E1062K	CIITA_ENST00000381835.5_Missense_Mutation_p.E478K	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1062					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGTGGGAGCCGAGAGCTTGGC	0.627000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								33	93					0	0	0.203993	0	0
CNGB1	1258	broad.mit.edu	37	16	57965711	57965711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:57965711C>A	ENST00000564448.1	-	17	1486	c.1426G>T	c.(1426-1428)Gaa>Taa	p.E476*	CNGB1_ENST00000564654.1_5'UTR|CNGB1_ENST00000251102.8_Nonsense_Mutation_p.E482*			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	482					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGATTCTCTTCTGCCATGAGG	0.562000													13	14					9.05144e-12	9.4357e-12	0.105934	1	0
SLC6A3	6531	broad.mit.edu	37	5	1441513	1441513	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:1441513C>T	ENST00000270349.9	-	3	506	c.379G>A	c.(379-381)Ggg>Agg	p.G127R	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G127R	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	127					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCAGCGGCCCCTTCCCTGTTG	0.602000													18	18					0	0	0.189662	0	0
INTS2	57508	broad.mit.edu	37	17	59958452	59958452	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:59958452C>T	ENST00000444766.3	-	17	2269	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	INTS2_ENST00000251334.6_Missense_Mutation_p.E724K	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	732					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CCTGTGATTTCTTCTTCACAA	0.383000													17	30					0	0	0.160694	0	0
TTN	7273	broad.mit.edu	37	2	179440180	179440180	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:179440180C>T	ENST00000589042.1	-	326	70903	c.70679G>A	c.(70678-70680)gGt>gAt	p.G23560D	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14495D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14620D|TTN_ENST00000342175.6_Missense_Mutation_p.G14687D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20992D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21919D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21919							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)			CTTGCTGCCACCATCGTGTTT	0.502000													54	55					0	0	0.139131	0	0
ALPK2	115701	broad.mit.edu	37	18	56203590	56203590	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:56203590C>G	ENST00000361673.3	-	5	4042	c.3829G>C	c.(3829-3831)Gat>Cat	p.D1277H	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1277							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTAGACTATCAGGTACAGCC	0.507000													27	67					0	0	0.116897	0	0
FAM65C	140876	broad.mit.edu	37	20	49227396	49227396	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:49227396G>A	ENST00000327979.2	-	6	819	c.408C>T	c.(406-408)atC>atT	p.I136I	FAM65C_ENST00000045083.2_Silent_p.I136I|FAM65C_ENST00000535356.1_Silent_p.I140I			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	136										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGACCTTGCTGATGTGAAACT	0.587000													20	26					0	0	0.076483	0	0
CUX2	23316	broad.mit.edu	37	12	111758222	111758222	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:111758222G>A	ENST00000261726.6	+	17	2563	c.2409G>A	c.(2407-2409)gtG>gtA	p.V803V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	803	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACGCCTCCGTGTCGCCCTCGC	0.726000													5	31					0	0	0.029380	0	0
NEK9	91754	broad.mit.edu	37	14	75563826	75563826	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr14:75563826C>T	ENST00000238616.5	-	17	2308	c.2150G>A	c.(2149-2151)gGa>gAa	p.G717E		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	717					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GGTATGCCATCCACGGCAAGA	0.498000													3	22					0	0	0.115264	0	0
RIPK4	54101	broad.mit.edu	37	21	43164063	43164063	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr21:43164063C>T	ENST00000352483.2	-	8	1382	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	RIPK4_ENST00000542057.1_Missense_Mutation_p.E329K|RIPK4_ENST00000332512.3_Missense_Mutation_p.E392K|RIPK4_ENST00000544709.1_Missense_Mutation_p.E329K			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	392						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTCCCGCTCAAAGGACAGC	0.612000													10	35					0	0	0.058154	0	0
C3orf18	51161	broad.mit.edu	37	3	50602918	50602918	+	Silent	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:50602918C>G	ENST00000357203.3	-	3	752	c.213G>C	c.(211-213)gtG>gtC	p.V71V	C3orf18_ENST00000441239.1_Intron|C3orf18_ENST00000449241.1_Silent_p.V71V|C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000426034.1_Silent_p.V71V	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	71						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		CCAGGCCTATCACCGTGATGA	0.537000													5	11					0	0	0.184627	0	0
NEXN	91624	broad.mit.edu	37	1	78383953	78383953	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:78383953G>A	ENST00000330010.8	+	4	547	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	NEXN_ENST00000334785.7_Missense_Mutation_p.E148K|NEXN_ENST00000457030.1_Missense_Mutation_p.E148K|NEXN_ENST00000294624.8_Missense_Mutation_p.E148K	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	148	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAAAAGGGCTGAACAGGTATC	0.348000													24	39					0	0	0.099896	0	0
GPR98	84059	broad.mit.edu	37	5	89923141	89923141	+	Silent	SNP	C	C	A	rs143841024	by1000genomes	TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:89923141C>A	ENST00000405460.2	+	7	882	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	262					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGATAGTCCCGTGAGATTCC	0.358000													17	24					1.45105e-14	1.52343e-14	0.175082	1	0
CSH1	1442	broad.mit.edu	37	17	61972636	61972636	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:61972636C>G	ENST00000329882.8	-	4	723	c.653G>C	c.(652-654)aGa>aCa	p.R218T	CSH1_ENST00000316193.8_Intron|CSH1_ENST00000453363.3_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TTCCCTCCCTCTCTCATTTAT	0.547000									Russell-Silver syndrome				45	66					0	0	0.104719	0	0
ITSN2	50618	broad.mit.edu	37	2	24507670	24507670	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:24507670G>C	ENST00000355123.4	-	17	2349	c.1906C>G	c.(1906-1908)Ctg>Gtg	p.L636V	ITSN2_ENST00000361999.3_Intron|ITSN2_ENST00000406921.3_Missense_Mutation_p.L636V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	636					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCTTAGCAGAGACAAAAGG	0.318000													26	49					0	0	0.144211	0	0
ERBB2	2064	broad.mit.edu	37	17	37881000	37881000	+	Missense_Mutation	SNP	G	G	T	rs121913471		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:37881000G>T	ENST00000406381.2	+	22	2749	c.2239G>T	c.(2239-2241)Gtg>Ttg	p.V747L	ERBB2_ENST00000584450.1_Missense_Mutation_p.V777L|ERBB2_ENST00000269571.5_Missense_Mutation_p.V777L|ERBB2_ENST00000541774.1_Missense_Mutation_p.V762L|ERBB2_ENST00000445658.2_Missense_Mutation_p.V501L|ERBB2_ENST00000584601.1_Missense_Mutation_p.V747L|ERBB2_ENST00000540147.1_Missense_Mutation_p.V747L	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	777	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V777L(6)|p.V777M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			30	5					6.05902e-23	6.45322e-23	0.193644	1	0
SPTAN1	6709	broad.mit.edu	37	9	131386754	131386754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr9:131386754G>T	ENST00000358161.5	+	46	6093	c.5980G>T	c.(5980-5982)Gag>Tag	p.E1994*	SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E1994*|SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.E1989*			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1989					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGACGTGGTGGAGTCCTGGAT	0.557000													12	2					4.36969e-10	4.53381e-10	0.105934	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065554	55065554	+	RNA	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:55065554G>A	ENST00000526016.1	-	0	154					NR_038174.2																						TGTCAGTGTTGAGGTTTCTCT	0.488000													11	17					0	0	0.069234	0	0
ADAM17	6868	broad.mit.edu	37	2	9663424	9663424	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:9663424G>C	ENST00000310823.3	-	7	979	c.797C>G	c.(796-798)tCa>tGa	p.S266*	ADAM17_ENST00000497134.1_Nonsense_Mutation_p.S266*	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	266	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ATTATCCCATGAAGTGTTCCG	0.313000													41	78					0	0	0.139131	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45506827	45506827	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr21:45506827A>C	ENST00000291574.4	+	16	2700	c.2525A>C	c.(2524-2526)tAc>tCc	p.Y842S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	842					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCTGTGGTCTACTCCAACACG	0.607000													15	38					0	0	0.132662	0	0
COX16	51241	broad.mit.edu	37	14	70826257	70826257	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr14:70826257G>C	ENST00000389912.6	-	1	191	c.48C>G	c.(46-48)ctC>ctG	p.L16L	SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	NM_016468.6	NP_057552.1			COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)											large_intestine(1)|lung(2)	3						CTCCATAGCCGAGAGTCTTGT	0.577000													14	20					0	0	0.119110	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419225	65419225	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:65419225T>G	ENST00000360768.3	+	3	574	c.469T>G	c.(469-471)Tac>Gac	p.Y157D	VKORC1L1_ENST00000434382.2_Missense_Mutation_p.L120R	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	157						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	CATTATCAACTACAAACGACT	0.512000													8	29					0	0	0.038147	0	0
BRCA1	672	broad.mit.edu	37	17	41246641	41246641	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:41246641C>T	ENST00000309486.4	-	9	1046	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E303K|BRCA1_ENST00000354071.3_Missense_Mutation_p.E303K|BRCA1_ENST00000357654.3_Missense_Mutation_p.E303K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E303K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E256K	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	303					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTACAGAATTCAGCCTTTTCT	0.438000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			42	41					0	0	0.098360	0	0
ARVCF	421	broad.mit.edu	37	22	19968925	19968925	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr22:19968925G>A	ENST00000263207.3	-	5	996	c.705C>T	c.(703-705)gcC>gcT	p.A235A	ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Silent_p.A172A|ARVCF_ENST00000406259.1_Silent_p.A235A|ARVCF_ENST00000401994.1_Silent_p.A172A|ARVCF_ENST00000406522.1_Silent_p.A172A	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	235					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCACCGGGAAGGCTTCCCGGT	0.716000													6	3					0	0	0.021553	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													4	55					0	0	0.150653	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918736	21918736	+	Missense_Mutation	SNP	C	C	T	rs142014286		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:21918736C>T	ENST00000240662.2	-	3	1541	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	399						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	ATTGTTCCTTCGGATAGAATT	0.418000													26	42					0	0	0.108266	0	0
ZFR2	23217	broad.mit.edu	37	19	3819209	3819209	+	Missense_Mutation	SNP	C	C	T	rs2301839		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:3819209C>T	ENST00000262961.4	-	12	1775	c.1765G>A	c.(1765-1767)Gac>Aac	p.D589N		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	589			D -> N (in dbSNP:rs2301839).			intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TGCCGGTCGTCGCTGGACGCC	0.721000													6	3					0	0	0.021553	0	0
ZNF419	79744	broad.mit.edu	37	19	58005132	58005132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:58005132G>T	ENST00000424930.2	+	5	1439	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	ZNF419_ENST00000442920.2_Nonsense_Mutation_p.E390*|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Nonsense_Mutation_p.E391*|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.E391*|ZNF419_ENST00000347466.6_Nonsense_Mutation_p.E371*|ZNF419_ENST00000415379.2_Nonsense_Mutation_p.E357*|ZNF419_ENST00000221735.7_Nonsense_Mutation_p.E403*	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TAAGTGCAATGAATGTGGGAG	0.428000													37	56					5.8336e-16	6.13917e-16	0.183431	1	0
MAP1S	55201	broad.mit.edu	37	19	17836839	17836839	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:17836839G>A	ENST00000324096.4	+	5	797	c.646G>A	c.(646-648)Gag>Aag	p.E216K	MAP1S_ENST00000544059.2_Missense_Mutation_p.E190K|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	216	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GTACGTGGCTGAGTCTCTGGA	0.701000													8	11					0	0	0.038147	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905670	144905670	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:144905670C>T	ENST00000370490.1	+	1	5982	c.1727C>T	c.(1726-1728)gCt>gTt	p.A576V	SLITRK2_ENST00000413937.2_Missense_Mutation_p.A576V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.A576V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.A576V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A576V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	576	LRRCT 2.					integral to membrane		p.A576V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGGAGGCTATCTGTCCA	0.473000													21	3					0	0	0.055883	0	0
KIAA1211	57482	broad.mit.edu	37	4	57180913	57180913	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:57180913G>C	ENST00000504228.1	+	6	1350	c.1245G>C	c.(1243-1245)tgG>tgC	p.W415C	KIAA1211_ENST00000541073.1_Missense_Mutation_p.W408C|KIAA1211_ENST00000264229.6_Missense_Mutation_p.W415C			Q6ZU35	K1211_HUMAN	KIAA1211	415	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGAGGACTGGAGGGGGCAGC	0.657000													8	5					0	0	0.047766	0	0
ZNF436	80818	broad.mit.edu	37	1	23688863	23688863	+	Missense_Mutation	SNP	C	C	T	rs146010799		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:23688863C>T	ENST00000314011.4	-	4	1148	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ZNF436_ENST00000374608.3_Missense_Mutation_p.E338K	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TCCCCACATTCGTTACAGTGG	0.498000													26	55					0	0	0.134883	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21743154	21743154	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:21743154C>T	ENST00000319481.3	-	28	3048	c.2842G>A	c.(2842-2844)Gac>Aac	p.D948N	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.D566N|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.D435N	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	948					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TAATAAATGTCAGGCAAATTG	0.363000													17	27					0	0	0.189662	0	0
PARP4	143	broad.mit.edu	37	13	25000722	25000722	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr13:25000722C>G	ENST00000381989.3	-	33	4966	c.4861G>C	c.(4861-4863)Gaa>Caa	p.E1621Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1621	Interaction with the major vault protein.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGGAGACATTCTCTTCCTTTT	0.373000													26	36					0	0	0.116897	0	0
ESPNP	284729	broad.mit.edu	37	1	17046559	17046559	+	RNA	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:17046559C>T	ENST00000492551.1	-	0	93					NR_026567.1																						GCGGTGGGATCCCCACCGCCA	0.607000													24	101					0	0	0.091800	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166500	140166500	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:140166500C>T	ENST00000504120.2	+	1	625	c.625C>T	c.(625-627)Cac>Tac	p.H209Y	PCDHA1_ENST00000378133.3_Missense_Mutation_p.H209Y|PCDHA1_ENST00000394633.3_Missense_Mutation_p.H209Y	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGAACTTCACTTATTACT	0.433000													12	33					0	0	0.080935	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581811	40581811	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:40581811G>A	ENST00000450241.2	-	6	747	c.436C>T	c.(436-438)Ctt>Ttt	p.L146F	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.L180F|ZNF780A_ENST00000455521.1_Missense_Mutation_p.L181F|ZNF780A_ENST00000594395.1_Missense_Mutation_p.L181F|ZNF780A_ENST00000340963.5_Missense_Mutation_p.L180F			O75290	Z780A_HUMAN	zinc finger protein 780A	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)					TGCTGAATAAGATTTGCACTA	0.378000													27	30					0	0	0.099896	0	0
PDE10A	10846	broad.mit.edu	37	6	165752791	165752791	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:165752791C>T	ENST00000366882.1	-	21	2278	c.2124G>A	c.(2122-2124)aaG>aaA	p.K708K	PDE10A_ENST00000539869.2_Silent_p.K718K|PDE10A_ENST00000354448.4_Silent_p.K708K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	708					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.K708K(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTTCATCCTTCTTGTCTCTGT	0.353000													40	34					0	0	0.104719	0	0
FSCN3	29999	broad.mit.edu	37	7	127238539	127238539	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:127238539G>A	ENST00000265825.5	+	4	1230	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	FSCN3_ENST00000420086.2_Silent_p.T203T	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	337						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						AGTCTGACACGTTCTTCCGAA	0.557000													21	92					0	0	0.091800	0	0
MDH1	4190	broad.mit.edu	37	2	63822608	63822608	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:63822608G>A	ENST00000233114.8	+	3	589	c.154G>A	c.(154-156)Ggt>Agt	p.G52S	MDH1_ENST00000539945.1_Missense_Mutation_p.G70S|MDH1_ENST00000394423.1_Missense_Mutation_p.G52S|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000409476.1_Intron|MDH1_ENST00000544381.1_Intron	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	52					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	TGTCCTGGACGGTGTCCTAAT	0.443000													15	14					0	0	0.146539	0	0
RTKN	6242	broad.mit.edu	37	2	74654302	74654302	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:74654302C>T	ENST00000305557.5	-	12	1900	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	RTKN_ENST00000272430.5_Missense_Mutation_p.E452K|RTKN_ENST00000233330.6_Missense_Mutation_p.E402K	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	452				RKP -> PKT (in Ref. 3; AAG01181).	apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TTACCCATCTCATGGTACAAG	0.483000													22	24					0	0	0.083992	0	0
ALG10	84920	broad.mit.edu	37	12	34179442	34179442	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:34179442G>C	ENST00000266483.2	+	3	1333	c.1014G>C	c.(1012-1014)tgG>tgC	p.W338C	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	338					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTTAGTTTGGAAATTCACTT	0.308000													28	69					0	0	0.144211	0	0
NSUN5	55695	broad.mit.edu	37	7	72717949	72717949	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:72717949C>T	ENST00000428206.1	-	8	918	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	NSUN5_ENST00000252594.6_Missense_Mutation_p.R340Q|NSUN5_ENST00000310326.8_Missense_Mutation_p.R340Q|NSUN5_ENST00000438747.2_Missense_Mutation_p.R340Q	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	340							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCACAGGGCTCGCTGCTGGAA	0.637000													8	29					0	0	0.038147	0	0
TRPM2	7226	broad.mit.edu	37	21	45789214	45789214	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr21:45789214G>C	ENST00000397928.1	+	5	1204	c.759G>C	c.(757-759)ctG>ctC	p.L253L	TRPM2_ENST00000300482.5_Silent_p.L253L|TRPM2_ENST00000397932.2_Silent_p.L253L|TRPM2_ENST00000300481.9_Silent_p.L253L|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	253						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCGAGGGCCTGATCCATCCCA	0.667000													21	7					0	0	0.062417	0	0
PNPLA6	10908	broad.mit.edu	37	19	7601418	7601418	+	Silent	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:7601418C>G	ENST00000221249.6	+	6	713	c.282C>G	c.(280-282)ctC>ctG	p.L94L	CTD-2207O23.10_ENST00000601870.1_3'UTR|PNPLA6_ENST00000414982.3_Silent_p.L142L|PNPLA6_ENST00000600737.1_Silent_p.L133L|PNPLA6_ENST00000545201.2_Silent_p.L94L|PNPLA6_ENST00000450331.3_Silent_p.L94L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	133					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAAGATGCTCAACATTGCCA	0.527000													10	14					0	0	0.080935	0	0
TST	7263	broad.mit.edu	37	22	37414315	37414315	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr22:37414315G>C	ENST00000403892.3	-	1	1193	c.459C>G	c.(457-459)ttC>ttG	p.F153L	TST_ENST00000249042.3_Missense_Mutation_p.F153L	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	153	Hinge.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GTGTGGCTTTGAAGACGGCCG	0.602000													13	21					0	0	0.119110	0	0
MPDU1	9526	broad.mit.edu	37	17	7490869	7490869	+	Nonstop_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:7490869G>C	ENST00000250124.6	+	7	960	c.744G>C	c.(742-744)taG>taC	p.*248Y	MPDU1_ENST00000423172.2_Intron|MPDU1_ENST00000396501.4_3'UTR	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	0					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						AGGCGCAGTAGAGCCAGCTAC	0.557000													11	55					0	0	0.093190	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722355	58722355	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:58722355G>T	ENST00000300079.5	+	5	442	c.392G>T	c.(391-393)aGa>aTa	p.R131I	GLYATL1_ENST00000317391.4_Missense_Mutation_p.R100I|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	100						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGGAAACAGAGACTCCAAATC	0.403000													8	16					0.000157383	0.000160284	0.038147	1	0
ZNF155	7711	broad.mit.edu	37	19	44500292	44500292	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:44500292C>T	ENST00000270014.2	+	5	411	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	ZNF155_ENST00000407951.2_Missense_Mutation_p.H106Y|ZNF155_ENST00000590615.1_Missense_Mutation_p.H95Y	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	95						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AGCAGGAGCACATGAAGAGTG	0.418000													21	41					0	0	0.055883	0	0
TXNIP	10628	broad.mit.edu	37	1	145440746	145440746	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:145440746G>C	ENST00000369317.4	+	6	1280	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	316					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCAGCTCTGAGATGAGTTG	0.493000													25	68					0	0	0.091800	0	0
ITPR2	3709	broad.mit.edu	37	12	26731681	26731681	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:26731681G>A	ENST00000381340.3	-	34	5011	c.4595C>T	c.(4594-4596)tCa>tTa	p.S1532L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1532					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGATTCCACTGAGGCTTTCTG	0.388000													36	42					0	0	0.214465	0	0
RSF1	51773	broad.mit.edu	37	11	77386225	77386225	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:77386225C>T	ENST00000308488.6	-	14	3720	c.3418G>A	c.(3418-3420)Gac>Aac	p.D1140N	RSF1_ENST00000360355.2_Missense_Mutation_p.D1109N|RSF1_ENST00000480887.1_Missense_Mutation_p.D888N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1140					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AAGTCAGTGTCACTGTCATCA	0.448000													16	24					0	0	0.160694	0	0
TRPM2	7226	broad.mit.edu	37	21	45789113	45789113	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr21:45789113G>A	ENST00000397928.1	+	5	1103	c.658G>A	c.(658-660)Gag>Aag	p.E220K	TRPM2_ENST00000300482.5_Missense_Mutation_p.E220K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E220K|TRPM2_ENST00000300481.9_Missense_Mutation_p.E220K|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	220						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCAGGTAGGCGAGGCGGTGCG	0.682000													13	8					0	0	0.105934	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031540	110031540	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:110031540G>A	ENST00000369870.3	+	7	870	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	285	SCA7.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGCAGAGCTGAAGGCCAACT	0.632000													27	32					0	0	0.091800	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927614	92927614	+	Silent	SNP	T	T	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:92927614T>C	ENST00000373079.3	-	1	953	c.690A>G	c.(688-690)gtA>gtG	p.V230V	NAP1L3_ENST00000475430.2_Silent_p.V223V	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	230	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTTCAGCCTTTACCTCAGGAA	0.408000													5	49					0	0	0.021553	0	0
C4orf21	55345	broad.mit.edu	37	4	113539667	113539667	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:113539667C>T	ENST00000505019.1	-	6	1656	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E511K|C4orf21_ENST00000445203.2_Missense_Mutation_p.E480K	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	511										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTAAGACTTTCATTATCCATT	0.328000													10	53					0	0	0.058154	0	0
OAF	220323	broad.mit.edu	37	11	120096409	120096409	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:120096409G>C	ENST00000328965.4	+	2	784	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	OAF_ENST00000531220.1_Intron	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	91										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GGGGGAGCTGGAGAAGGGGCA	0.622000													25	11					0	0	0.083992	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20235942	20235942	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr13:20235942G>C	ENST00000361479.5	+	8	1964	c.1896G>C	c.(1894-1896)aaG>aaC	p.K632N	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K632N	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	632					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GTCGGCAGAAGAACGGGACCA	0.562000													14	89					0	0	0.119110	0	0
FGA	2243	broad.mit.edu	37	4	155508742	155508742	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:155508742T>G	ENST00000302053.3	-	4	510	c.432A>C	c.(430-432)aaA>aaC	p.K144N	FGA_ENST00000403106.3_Missense_Mutation_p.K144N	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	144					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTTCTATGACTTTGCGCTTCA	0.423000													5	50					0	0	0.021553	0	0
OR10H2	26538	broad.mit.edu	37	19	15839675	15839675	+	Silent	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:15839675G>T	ENST00000305899.3	+	1	842	c.822G>T	c.(820-822)ctG>ctT	p.L274L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTGACACCCTGATGGCCACCA	0.547000													24	35					1.10923e-09	1.14551e-09	0.076483	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													4	11					0	0	0.184627	0	0
UBE2R2	54926	broad.mit.edu	37	9	33917052	33917052	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr9:33917052G>C	ENST00000263228.3	+	5	725	c.534G>C	c.(532-534)aaG>aaC	p.K178N		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	178					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		AAGCAGAAAAGGATGGAGTGA	0.428000													8	16					0	0	0.038147	0	0
GARS	2617	broad.mit.edu	37	7	30662010	30662010	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:30662010G>A	ENST00000389266.3	+	12	1786	c.1545G>A	c.(1543-1545)gtG>gtA	p.V515V		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	515					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAAACTGGTGATGGAGTATC	0.403000													56	75					0	0	0.139131	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119210204	119210204	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:119210204G>A	ENST00000445041.2	-	15	3364	c.569C>T	c.(568-570)tCg>tTg	p.S190L	MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR|MFRP_ENST00000555262.1_3'UTR|C1QTNF5_ENST00000528368.1_Missense_Mutation_p.S190L	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN	C1q and tumor necrosis factor related protein 5	142	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCCCGAGAGCGAGGCTGGCTT	0.597000													30	12					0	0	0.125774	0	0
UPF3A	65110	broad.mit.edu	37	13	115070348	115070348	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr13:115070348G>A	ENST00000375299.3	+	10	1443	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	UPF3A_ENST00000351487.5_Missense_Mutation_p.E430K|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	463					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		CTGCAAGGCAGAAGGTTCGGG	0.597000													9	19					0	0	0.058154	0	0
EDNRA	1909	broad.mit.edu	37	4	148463743	148463743	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:148463743G>C	ENST00000324300.5	+	8	1772	c.1257G>C	c.(1255-1257)cgG>cgC	p.R419R	EDNRA_ENST00000511804.1_Silent_p.R194R|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000358556.4_Silent_p.R310R|EDNRA_ENST00000506066.1_Silent_p.R310R|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	419					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	ACACAGACCGGAGCAGCCATA	0.502000													8	26					0	0	0.047766	0	0
ASH1L	55870	broad.mit.edu	37	1	155340340	155340340	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:155340340C>T	ENST00000368346.3	-	12	7295	c.6656G>A	c.(6655-6657)cGa>cAa	p.R2219Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2214Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2219	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTTGATGAATCGGGCCTCATT	0.443000													43	180					0	0	0.139131	0	0
COL7A1	1294	broad.mit.edu	37	3	48608565	48608565	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:48608565G>A	ENST00000328333.8	-	93	7240	c.7133C>T	c.(7132-7134)tCc>tTc	p.S2378F	COL7A1_ENST00000454817.1_Missense_Mutation_p.S2346F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2378	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGCCCAGGGGAGCCCGGGAC	0.642000													11	13					0	0	0.080935	0	0
CST3	1471	broad.mit.edu	37	20	23614618	23614618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:23614618G>A	ENST00000398411.1	-	3	458	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	CST3_ENST00000376925.3_Nonsense_Mutation_p.Q126*|CST3_ENST00000398409.1_Nonsense_Mutation_p.Q126*			P01034	CYTC_HUMAN	cystatin C	126					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCGTAGATCTGGAAAGAGCAG	0.547000													15	21					0	0	0.119110	0	0
PROKR1	10887	broad.mit.edu	37	2	68882132	68882132	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:68882132C>T	ENST00000303786.3	+	3	1026	c.606C>T	c.(604-606)acC>acT	p.T202T	PROKR1_ENST00000394342.2_Silent_p.T202T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	202						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.T202T(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACTTCACCACCGAGACGGTCC	0.557000													16	74					0	0	0.146539	0	0
SLX4	84464	broad.mit.edu	37	16	3632496	3632496	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:3632496C>T	ENST00000294008.3	-	15	5992	c.5352G>A	c.(5350-5352)gaG>gaA	p.E1784E	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1784	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTGCCTCAGCTCTGCCTGCA	0.637000								Direct reversal of damage					25	60					0	0	0.083992	0	0
DEF6	50619	broad.mit.edu	37	6	35278344	35278344	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:35278344C>G	ENST00000316637.5	+	3	351	c.346C>G	c.(346-348)Cag>Gag	p.Q116E	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	116						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GCTCTCCAATCAGGATGCCTT	0.542000													14	84					0	0	0.146539	0	0
SEMA6C	10500	broad.mit.edu	37	1	151107746	151107746	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:151107746G>A	ENST00000341697.3	-	15	3164	c.1473C>T	c.(1471-1473)atC>atT	p.I491I				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	491	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCAGCCCTATGATCCGTCGTG	0.577000													26	65					0	0	0.108266	0	0
ASXL1	171023	broad.mit.edu	37	20	31022277	31022277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:31022277C>T	ENST00000375687.4	+	13	2186	c.1762C>T	c.(1762-1764)Cag>Tag	p.Q588*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.Q583*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	588					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q588*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGTTAAAGGTCAGCCCACTTA	0.517000			"""F, N, Mis"""		"""MDS, CMML"""								9	49					0	0	0.058154	0	0
FAM135B	51059	broad.mit.edu	37	8	139144865	139144865	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr8:139144865A>C	ENST00000395297.1	-	20	4362	c.4192T>G	c.(4192-4194)Ttg>Gtg	p.L1398V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1398										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTGCCACCAAGAAAAACTTC	0.527000										HNSCC(54;0.14)			17	171					0	0	0.175082	0	0
SLFN13	146857	broad.mit.edu	37	17	33769076	33769076	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:33769076G>C	ENST00000285013.6	-	5	1703	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	SLFN13_ENST00000542635.1_Silent_p.L476L|SLFN13_ENST00000534689.1_Silent_p.L158L|SLFN13_ENST00000360502.2_Silent_p.L158L|SLFN13_ENST00000533791.1_Silent_p.L476L|SLFN13_ENST00000526861.1_Silent_p.L476L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	476						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTGCTCCCTGAGAATGGTGT	0.557000													11	50					0	0	0.093190	0	0
HECW1	23072	broad.mit.edu	37	7	43484793	43484793	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:43484793C>T	ENST00000395891.2	+	11	2627	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	HECW1_ENST00000453890.1_Silent_p.D674D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGGCTGTGACGCGTCCTGCT	0.682000													4	34					0	0	0.150653	0	0
TM2D1	83941	broad.mit.edu	37	1	62190663	62190663	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:62190663C>T	ENST00000371177.2	-	1	142	c.130G>A	c.(130-132)Gag>Aag	p.E44K	TM2D1_ENST00000294613.5_Missense_Mutation_p.E44K|TM2D1_ENST00000371180.2_Missense_Mutation_p.E106K|TM2D1_ENST00000606498.1_Missense_Mutation_p.E44K			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	44					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						TTAAGCGACTCCTCGCCCCCG	0.637000													13	25					0	0	0.093190	0	0
ITGA7	3679	broad.mit.edu	37	12	56082010	56082010	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:56082010C>G	ENST00000257880.7	-	24	3384	c.3165G>C	c.(3163-3165)ttG>ttC	p.L1055F	ITGA7_ENST00000555728.1_Missense_Mutation_p.L1055F|ITGA7_ENST00000394229.2_Missense_Mutation_p.L1011F|ITGA7_ENST00000553804.1_Missense_Mutation_p.L1015F|ITGA7_ENST00000257879.6_Missense_Mutation_p.L1011F|ITGA7_ENST00000394230.2_Missense_Mutation_p.L1015F|ITGA7_ENST00000452168.2_Missense_Mutation_p.L918F|ITGA7_ENST00000347027.6_Missense_Mutation_p.L1005F			Q13683	ITA7_HUMAN	integrin, alpha 7	1055					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCGGAGCATCAAGTTCTTTA	0.537000													11	25					0	0	0.069234	0	0
SHD	56961	broad.mit.edu	37	19	4282968	4282968	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:4282968G>A	ENST00000543264.2	+	2	1862	c.399G>A	c.(397-399)atG>atA	p.M133I	SHD_ENST00000599689.1_Missense_Mutation_p.M133I	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	133										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGGGTCATGAGTGGTGAGT	0.592000													23	35					0	0	0.069288	0	0
NOS3	4846	broad.mit.edu	37	7	150696139	150696139	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:150696139G>A	ENST00000297494.3	+	8	1279	c.922G>A	c.(922-924)Gag>Aag	p.E308K	NOS3_ENST00000484524.1_Missense_Mutation_p.E308K|NOS3_ENST00000461406.1_Missense_Mutation_p.E102K|NOS3_ENST00000467517.1_Missense_Mutation_p.E308K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	308	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TCTGCCCCCCGAGCTGGTCCT	0.647000													63	94					0	0	0.139131	0	0
NEB	4703	broad.mit.edu	37	2	152342363	152342363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:152342363G>A	ENST00000397345.3	-	182	25691	c.25489C>T	c.(25489-25491)Caa>Taa	p.Q8497*	NEB_ENST00000603639.1_Nonsense_Mutation_p.Q8497*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q6641*|NEB_ENST00000509223.2_Nonsense_Mutation_p.Q410*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q8497*|NEB_ENST00000427231.2_Nonsense_Mutation_p.Q8497*|NEB_ENST00000172853.10_Nonsense_Mutation_p.Q6641*|NEB_ENST00000397336.2_Nonsense_Mutation_p.Q472*	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	6641					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAATTGCTTGAACATTTATG	0.473000													57	73					0	0	0.139131	0	0
LMTK2	22853	broad.mit.edu	37	7	97823392	97823392	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:97823392G>A	ENST00000297293.5	+	11	3908	c.3615G>A	c.(3613-3615)ctG>ctA	p.L1205L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1205					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGAGTGTGCTGAATGCAGAAC	0.602000													20	26					0	0	0.189662	0	0
OR10H2	26538	broad.mit.edu	37	19	15839534	15839534	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:15839534G>C	ENST00000305899.3	+	1	701	c.681G>C	c.(679-681)ttG>ttC	p.L227F		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCGACATCTTGAAGATCCCTT	0.542000													31	50					0	0	0.144211	0	0
LMBR1	64327	broad.mit.edu	37	7	156480813	156480813	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:156480813G>A	ENST00000353442.5	-	16	1534	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	LMBR1_ENST00000354505.4_Missense_Mutation_p.S474F|LMBR1_ENST00000540390.1_Intron|LMBR1_ENST00000359422.4_Intron	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CAAATTGTAGGATAATACAAT	0.363000													17	34					0	0	0.175082	0	0
ATP8A1	10396	broad.mit.edu	37	4	42558001	42558001	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:42558001T>G	ENST00000381668.5	-	16	1628	c.1397A>C	c.(1396-1398)aAt>aCt	p.N466T	ATP8A1_ENST00000264449.10_Missense_Mutation_p.N451T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	466					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATTTTGGAGATTTTCCAGCAA	0.308000													5	26					0	0	0.184627	0	0
GPR98	84059	broad.mit.edu	37	5	89986740	89986740	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:89986740G>T	ENST00000405460.2	+	31	6929	c.6833G>T	c.(6832-6834)gGa>gTa	p.G2278V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2278					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCATTAATGGACAGCTTGCT	0.488000													4	12					0.00909568	0.00922085	0.150653	1	0
CHAF1B	8208	broad.mit.edu	37	21	37759967	37759967	+	Silent	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr21:37759967C>G	ENST00000314103.5	+	3	349	c.198C>G	c.(196-198)acC>acG	p.T66T	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CTCGTCATACCAAAGCCGTCA	0.438000													17	87					0	0	0.160694	0	0
OR1A1	8383	broad.mit.edu	37	17	3119726	3119726	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:3119726T>A	ENST00000304094.1	+	1	812	c.812T>A	c.(811-813)gTg>gAg	p.V271E		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						AAAGACGCAGTGATCACTGTA	0.473000													8	98					0	0	0.047766	0	0
NDUFS1	4719	broad.mit.edu	37	2	207006699	207006699	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:207006699C>G	ENST00000233190.6	-	12	1494	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	NDUFS1_ENST00000432169.1_Missense_Mutation_p.E299Q|NDUFS1_ENST00000457011.1_Missense_Mutation_p.E294Q|NDUFS1_ENST00000455934.2_Missense_Mutation_p.E424Q|NDUFS1_ENST00000440274.1_Missense_Mutation_p.E374Q|NDUFS1_ENST00000423725.1_Missense_Mutation_p.E353Q|NDUFS1_ENST00000449699.1_Missense_Mutation_p.E410Q	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	AGTGGTGCCTCAAAACGTGGG	0.328000													23	31					0	0	0.069288	0	0
OR5B12	390191	broad.mit.edu	37	11	58206862	58206862	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:58206862A>C	ENST00000302572.2	-	1	784	c.763T>G	c.(763-765)Ttt>Gtt	p.F255V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGTACATAAAGATTCCTGTC	0.458000													4	49					0	0	0.150653	0	0
CCDC30	728621	broad.mit.edu	37	1	43004857	43004857	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:43004857C>G	ENST00000428554.2	+	10	1274	c.131C>G	c.(130-132)tCa>tGa	p.S44*	CCDC30_ENST00000342022.4_Nonsense_Mutation_p.S44*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.S44*|CCDC30_ENST00000507855.1_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	44										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTGCAAAAATCAAAGTCAGAG	0.294000													18	54					0	0	0.189662	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612666	79612666	+	RNA	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:79612666G>C	ENST00000328585.4	+	0	764				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTGAGTCTTGGAGTGGGCGAG	0.622000													4	10					0	0	0.150653	0	0
NKD1	85407	broad.mit.edu	37	16	50655557	50655557	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:50655557G>A	ENST00000268459.3	+	5	528	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	102					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAGCGGAGATGAGAAGAAGAT	0.602000													6	11					0	0	0.021553	0	0
OR10H2	26538	broad.mit.edu	37	19	15838884	15838884	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:15838884G>C	ENST00000305899.3	+	1	51	c.31G>C	c.(31-33)Gaa>Caa	p.E11Q		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTCCATGTCTGAATTCATCCT	0.562000													54	67					0	0	0.139131	0	0
OR1M1	125963	broad.mit.edu	37	19	9204616	9204616	+	Silent	SNP	C	C	T	rs142350139		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:9204616C>T	ENST00000429566.3	+	1	762	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCTGCAGGCGGCAGGAAGA	0.582000													29	73					0	0	0.125774	0	0
C1S	716	broad.mit.edu	37	12	7177747	7177747	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:7177747G>A	ENST00000406697.1	+	15	2487	c.1859G>A	c.(1858-1860)gGa>gAa	p.G620E	C1S_ENST00000328916.3_Missense_Mutation_p.G620E|C1S_ENST00000360817.5_Missense_Mutation_p.G620E|C1S_ENST00000402681.3_Missense_Mutation_p.G453E			P09871	C1S_HUMAN	complement component 1, s subcomponent	620	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATCTGTGCTGGAGGAGAGAAG	0.488000													41	63					0	0	0.092188	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000376452.3_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542000													3	52					0	0	0.115264	0	0
SCRIB	23513	broad.mit.edu	37	8	144876114	144876114	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr8:144876114C>T	ENST00000356994.2	-	28	3871	c.3865G>A	c.(3865-3867)Gga>Aga	p.G1289R	SCRIB_ENST00000546337.1_5'UTR|SCRIB_ENST00000320476.3_Missense_Mutation_p.G1289R|SCRIB_ENST00000377533.3_Missense_Mutation_p.G1208R	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1289					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ATCTTCCCTCCAGCTGCTCCA	0.662000													7	44					0	0	0.029380	0	0
OTUD7B	56957	broad.mit.edu	37	1	149915902	149915902	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:149915902G>A	ENST00000369135.4	-	12	2680	c.2386C>T	c.(2386-2388)Ccc>Tcc	p.P796S		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGAGTTGGGGGAAGGCCCCGG	0.542000													54	40					0	0	0.139131	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46052994	46052994	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:46052994G>A	ENST00000536708.2	+	7	812	c.703G>A	c.(703-705)Gcg>Acg	p.A235T	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.A210T	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	210					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CGTGTACCAGGCGTCTGTGGG	0.607000													72	15					0	0	0.139131	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102494915	102494915	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:102494915G>C	ENST00000321521.9	+	17	2376	c.1803G>C	c.(1801-1803)atG>atC	p.M601I	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.M601I|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.M601I			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	601					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTGCAAATATGAACGGTCTTT	0.378000													22	52					0	0	0.076483	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26157185	26157185	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:26157185G>C	ENST00000304218.3	+	1	627	c.567G>C	c.(565-567)gcG>gcC	p.A189A		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	189					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGAGCCCAGCGAAGGCCAAAG	0.547000													4	31					0	0	0.150653	0	0
BPTF	2186	broad.mit.edu	37	17	65907743	65907743	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:65907743C>T	ENST00000321892.4	+	13	4182	c.4121C>T	c.(4120-4122)tCt>tTt	p.S1374F	BPTF_ENST00000424123.3_Missense_Mutation_p.S1235F|BPTF_ENST00000306378.6_Missense_Mutation_p.S1248F|BPTF_ENST00000335221.5_Missense_Mutation_p.S1374F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1374					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTGTTTCTTCTTCCAAGAGT	0.413000													32	50					0	0	0.144211	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968272	4968272	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrY:4968272G>C	ENST00000333703.4	+	5	3133	c.2620G>C	c.(2620-2622)Gaa>Caa	p.E874Q	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.E885Q|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.E885Q	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	885					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGAATTCTGAATGGGCTAC	0.423000													64	7					0	0	0.139131	0	0
IFNL2	282616	broad.mit.edu	37	19	39760652	39760652	+	Nonstop_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:39760652G>C	ENST00000331982.5	+	6	657	c.602G>C	c.(601-603)tGa>tCa	p.*201S		NM_172138.1	NP_742150.1			interferon, lambda 2																		CTGTGTGTCTGACCCTCCCAC	0.493000													5	9					0	0	0.184627	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355615	45355615	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:45355615C>T	ENST00000359271.2	+	3	1651	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	467						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TCTCCTTCCTCGATCTCATTG	0.493000													28	64					0	0	0.116897	0	0
KCNA1	3736	broad.mit.edu	37	12	5020659	5020659	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:5020659G>A	ENST00000382545.3	+	2	1222	c.115G>A	c.(115-117)Gtg>Atg	p.V39M	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	39					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGCGAGCGCGTGGTGATCAA	0.672000													7	36					0	0	0.029380	0	0
OR10H2	26538	broad.mit.edu	37	19	15839667	15839667	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:15839667G>A	ENST00000305899.3	+	1	834	c.814G>A	c.(814-816)Gac>Aac	p.D272N		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D272Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCAGGAGGGTGACACCCTGAT	0.547000													25	35					0	0	0.083992	0	0
MYOM1	8736	broad.mit.edu	37	18	3193940	3193940	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:3193940G>A	ENST00000356443.4	-	3	640	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	MYOM1_ENST00000261606.7_Silent_p.L103L|MYOM1_ENST00000400569.3_Silent_p.L103L|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	103						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTAACAGCAGACTGGAATCT	0.383000													6	8					0	0	0.021553	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232644	193232644	+	Missense_Mutation	SNP	C	C	T	rs141456857		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:193232644C>T	ENST00000342695.4	-	2	399	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	ATP13A4_ENST00000295548.3_Missense_Mutation_p.R26Q|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R26Q	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	26					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCCTTGAGTCCGATAGCCAAA	0.418000													3	42					0	0	0.115264	0	0
GNG12	55970	broad.mit.edu	37	1	68173350	68173350	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:68173350C>A	ENST00000370982.3	-	3	219	c.20G>T	c.(19-21)aGc>aTc	p.S7I		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	7					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						ATTGTTGGTGCTTGCTGTTTT	0.363000													70	95					3.12118e-38	3.34035e-38	0.139131	1	0
PTPDC1	138639	broad.mit.edu	37	9	96859902	96859902	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr9:96859902G>C	ENST00000375360.3	+	7	1232	c.892G>C	c.(892-894)Gac>Cac	p.D298H	PTPDC1_ENST00000288976.3_Missense_Mutation_p.D350H	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	298							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						ATTGCTGCTGGACTTAGCGGA	0.458000													15	42					0	0	0.119110	0	0
PHF7	51533	broad.mit.edu	37	3	52457196	52457196	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:52457196G>A	ENST00000327906.3	+	11	1669	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	PHF7_ENST00000347025.2_Missense_Mutation_p.E298K	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	337						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CACCTTGGAAGAGAATCCGGG	0.527000													10	42					0	0	0.058154	0	0
DCDC1	341019	broad.mit.edu	37	11	30928138	30928138	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:30928138C>G	ENST00000597505.1	-	28	4052	c.4053G>C	c.(4051-4053)aaG>aaC	p.K1351N	DCDC1_ENST00000339794.5_Missense_Mutation_p.K430N|DCDC1_ENST00000406071.2_Missense_Mutation_p.K86N			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCTTCTGAGTCTTGGTGCCTG	0.458000													5	7					0	0	0.184627	0	0
USP29	57663	broad.mit.edu	37	19	57640431	57640431	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:57640431G>C	ENST00000254181.4	+	4	842	c.388G>C	c.(388-390)Gac>Cac	p.D130H	USP29_ENST00000598197.1_Missense_Mutation_p.D130H	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	130					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGGAAATTGACAAAACTTC	0.358000													6	26					0	0	0.021553	0	0
NAGK	55577	broad.mit.edu	37	2	71305477	71305477	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:71305477G>C	ENST00000418807.3	+	9	885	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	NAGK_ENST00000443872.2_Missense_Mutation_p.E144Q|NAGK_ENST00000455662.2_Missense_Mutation_p.E338Q|NAGK_ENST00000443938.2_Missense_Mutation_p.E288Q|NAGK_ENST00000244204.6_Missense_Mutation_p.E292Q			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	292					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CCAGGGCAGAGAGATCCAGGC	0.582000													15	24					0	0	0.119110	0	0
ZFP90	146198	broad.mit.edu	37	16	68598350	68598350	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:68598350G>C	ENST00000570495.1	+	5	1952	c.1660G>C	c.(1660-1662)Gaa>Caa	p.E554Q	ZFP90_ENST00000398253.2_Missense_Mutation_p.E554Q|ZFP90_ENST00000563169.2_Missense_Mutation_p.E554Q			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	554					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GAAACCCTATGAATGTATTGA	0.433000													21	57					0	0	0.055883	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32930029	32930029	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr15:32930029A>G	ENST00000361627.3	+	12	3777	c.3055A>G	c.(3055-3057)Aaa>Gaa	p.K1019E	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K830E|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K830E	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	1019					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACCAACAAGTAAACCTGTAGA	0.353000													6	9					0	0	0.021553	0	0
CAT	847	broad.mit.edu	37	11	34472552	34472552	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:34472552G>C	ENST00000241052.4	+	3	345	c.256G>C	c.(256-258)Gag>Cag	p.E86Q		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	86					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGGCTACTTTGAGGTCACACA	0.458000													29	83					0	0	0.144211	0	0
CUBN	8029	broad.mit.edu	37	10	16981117	16981117	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:16981117G>C	ENST00000377833.4	-	38	5643	c.5578C>G	c.(5578-5580)Cat>Gat	p.H1860D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1860	CUB 13.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTTCCCATGAGTTCCCACA	0.393000													16	38					0	0	0.175082	0	0
C17orf85	55421	broad.mit.edu	37	17	3724615	3724615	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:3724615G>A	ENST00000158149.3	-	10	983	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	C17orf85_ENST00000389005.4_Missense_Mutation_p.R310W			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	310							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATCACGTCCCGCTGAATACGA	0.453000													16	18					0	0	0.189662	0	0
CAD	790	broad.mit.edu	37	2	27460930	27460930	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:27460930G>A	ENST00000264705.4	+	30	4897	c.4735G>A	c.(4735-4737)Gag>Aag	p.E1579K	CAD_ENST00000403525.1_Missense_Mutation_p.E1516K	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1579	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGCATTTCGAGACATGGCC	0.572000													3	42					0	0	0.115264	0	0
OR8H3	390152	broad.mit.edu	37	11	55890130	55890130	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:55890130C>T	ENST00000313472.3	+	1	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATATTTCCTTCACGGGCTGCT	0.428000													6	321					0	0	0.021553	0	0
DIDO1	11083	broad.mit.edu	37	20	61528239	61528239	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:61528239G>A	ENST00000266070.4	-	7	2023	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	DIDO1_ENST00000395335.2_Silent_p.L566L|DIDO1_ENST00000395343.1_Silent_p.L566L|DIDO1_ENST00000395340.1_Silent_p.L566L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	566					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTTTGGCACGAGGTTTCTAG	0.572000													4	28					0	0	0.184627	0	0
SAP18	10284	broad.mit.edu	37	13	21720984	21720984	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr13:21720984G>C	ENST00000382533.4	+	3	319	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	SAP18_ENST00000607003.1_Missense_Mutation_p.E75Q	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	75					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CTTAGTAAAAGAAGTCTACCC	0.333000													28	42					0	0	0.099896	0	0
WNK1	65125	broad.mit.edu	37	12	862951	862951	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:862951A>G	ENST00000537687.1	+	1	863	c.220A>G	c.(220-222)Acc>Gcc	p.T74A	WNK1_ENST00000530271.2_Missense_Mutation_p.T74A|WNK1_ENST00000447667.2_Missense_Mutation_p.T74A|WNK1_ENST00000535572.1_Missense_Mutation_p.T74A|WNK1_ENST00000315939.6_Missense_Mutation_p.T74A	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	74					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GACCACTACCACCACTGAGCA	0.677000													10	30					0	0	0.105934	0	0
BRCA1	672	broad.mit.edu	37	17	41246489	41246489	+	Missense_Mutation	SNP	C	C	G	rs80356935		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:41246489C>G	ENST00000309486.4	-	9	1198	c.171G>C	c.(169-171)tgG>tgC	p.W57C	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.W353C|BRCA1_ENST00000354071.3_Missense_Mutation_p.W353C|BRCA1_ENST00000357654.3_Missense_Mutation_p.W353C|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.W353C|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.W306C	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	353					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTGCTTATTCCATTCTTTTC	0.413000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			102	131					0	0	0.139131	0	0
DNAH6	1768	broad.mit.edu	37	2	84804494	84804494	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:84804494A>T	ENST00000389394.3	+	13	2175	c.2038A>T	c.(2038-2040)Aga>Tga	p.R680*	DNAH6_ENST00000237449.6_Nonsense_Mutation_p.R680*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.R680*	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	680	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TAGGCTTCTAAGAGAAAAATT	0.343000													7	17					0	0	0.038147	0	0
STRAP	11171	broad.mit.edu	37	12	16048298	16048298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:16048298G>A	ENST00000419869.2	+	6	819	c.506G>A	c.(505-507)tGg>tAg	p.W169*	STRAP_ENST00000025399.6_Nonsense_Mutation_p.W182*|STRAP_ENST00000538352.1_Nonsense_Mutation_p.W75*	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	169					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TGCAGACTTTGGGATCATGCT	0.284000													21	26					0	0	0.091800	0	0
NAP1L5	266812	broad.mit.edu	37	4	89618627	89618627	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:89618627C>G	ENST00000323061.5	-	1	759	c.279G>C	c.(277-279)aaG>aaC	p.K93N	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	93					nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TGGCTTCTATCTTATCGCATC	0.458000													20	55					0	0	0.204396	0	0
SMYD4	114826	broad.mit.edu	37	17	1703675	1703675	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:1703675C>T	ENST00000305513.7	-	5	1180	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	338							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AAGCAGCCCTCCCAGAGGACA	0.517000													22	18					0	0	0.069288	0	0
PNPT1	87178	broad.mit.edu	37	2	55908017	55908017	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:55908017C>T	ENST00000447944.2	-	6	576	c.490G>A	c.(490-492)Gag>Aag	p.E164K		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	164					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATCAGGCTCATTTACACCA	0.313000													21	35					0	0	0.069288	0	0
TTC37	9652	broad.mit.edu	37	5	94878950	94878950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:94878950G>A	ENST00000358746.2	-	5	470	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	58							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTCTGGGCCTGATCAGGTTGT	0.358000													34	28					0	0	0.183431	0	0
XYLT1	64131	broad.mit.edu	37	16	17211624	17211624	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:17211624C>T	ENST00000261381.6	-	11	2520	c.2436G>A	c.(2434-2436)ttG>ttA	p.L812L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	812					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGGCAAGTTCAAAGGGGGCT	0.552000													9	29					0	0	0.058154	0	0
LAMA4	3910	broad.mit.edu	37	6	112463393	112463393	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:112463393C>T	ENST00000230538.7	-	20	2992	c.2595G>A	c.(2593-2595)atG>atA	p.M865I	LAMA4_ENST00000522006.1_Missense_Mutation_p.M858I|LAMA4_ENST00000389463.4_Missense_Mutation_p.M858I|LAMA4_ENST00000424408.2_Missense_Mutation_p.M858I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	865	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGGGGGTTTCATGTACAGGC	0.498000													21	40					0	0	0.204396	0	0
KMT2D	8085	broad.mit.edu	37	12	49415628	49415628	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:49415628C>G	ENST00000301067.7	-	54	16548	c.16549G>C	c.(16549-16551)Gag>Cag	p.E5517Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGATCGTCCTCAAAATCAAAC	0.502000													14	21					0	0	0.132662	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128497	197128497	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:197128497G>C	ENST00000367405.4	-	10	2790	c.2722C>G	c.(2722-2724)Cat>Gat	p.H908D	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	908					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ACTCATGAATGATGCTCATTC	0.353000													21	87					0	0	0.062417	0	0
OVCH1	341350	broad.mit.edu	37	12	29639257	29639257	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:29639257G>C	ENST00000318184.5	-	8	916	c.917C>G	c.(916-918)tCa>tGa	p.S306*	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	306	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCCCACTTTTGAGAGGGGTTG	0.398000													22	22					0	0	0.091800	0	0
DSCR9	257203	broad.mit.edu	37	21	38593804	38593804	+	RNA	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr21:38593804G>C	ENST00000454482.2	+	0	1411				AP001432.14_ENST00000440629.1_lincRNA	NR_026719.2																						CCCAGTTTTTGAAGAAGGTGA	0.527000													29	53					0	0	0.163468	0	0
GPR153	387509	broad.mit.edu	37	1	6313848	6313848	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:6313848G>A	ENST00000377893.2	-	3	975	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	239						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGTCTGCAGAGAGGTTTTGGC	0.672000													12	29					0	0	0.119110	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703924	52703924	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:52703924C>T	ENST00000287727.3	+	4	1007	c.835C>T	c.(835-837)Cct>Tct	p.P279S	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.P279S|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.P279S			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	279					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGATGGATGTCCTGCTGTTAA	0.438000													69	170					0	0	0.139131	0	0
ALMS1	7840	broad.mit.edu	37	2	73717912	73717912	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:73717912G>C	ENST00000264448.6	+	10	8934	c.8823G>C	c.(8821-8823)atG>atC	p.M2941I	ALMS1_ENST00000409009.1_Missense_Mutation_p.M2899I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2941					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATCATCAAATGAGAGAAAACC	0.438000													64	95					0	0	0.139131	0	0
CXorf23	256643	broad.mit.edu	37	X	19983510	19983510	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:19983510C>T	ENST00000379687.3	-	3	959	c.926G>A	c.(925-927)aGa>aAa	p.R309K	CXorf23_ENST00000356980.3_Missense_Mutation_p.R309K|CXorf23_ENST00000379682.4_Missense_Mutation_p.R309K	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	309						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						ACTATATTTTCTATCTTCTTC	0.388000													36	3					0	0	0.173368	0	0
TMC7	79905	broad.mit.edu	37	16	19027867	19027867	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:19027867G>C	ENST00000421369.3	+	3	635	c.77G>C	c.(76-78)cGa>cCa	p.R26P	TMC7_ENST00000569532.1_Missense_Mutation_p.R136P|TMC7_ENST00000304381.5_Missense_Mutation_p.R136P	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	136						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGAAGGCTCGAGAGATGACG	0.542000													6	21					0	0	0.038147	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53675292	53675292	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:53675292T>C	ENST00000262135.4	-	18	2872	c.2779A>G	c.(2779-2781)Ata>Gta	p.I927V	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.I927V|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.I927V|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.I927V	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	927					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCAGTTGTTATTGATCCACTT	0.408000													20	38					0	0	0.055883	0	0
SERPINA6	866	broad.mit.edu	37	14	94770777	94770777	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr14:94770777G>A	ENST00000341584.3	-	5	1342	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	399					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CATAACCCTCGCCAGGAAAAG	0.527000													10	33					0	0	0.069234	0	0
OR56A4	120793	broad.mit.edu	37	11	6023566	6023566	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:6023566G>A	ENST00000330728.4	-	1	858	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAATAGGAGATAACAATAA	0.468000													3	9					0	0	0.115264	0	0
TEX33	339669	broad.mit.edu	37	22	37397977	37397977	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr22:37397977C>G	ENST00000405091.2	-	4	641	c.390G>C	c.(388-390)caG>caC	p.Q130H	TEX33_ENST00000402860.3_Missense_Mutation_p.Q45H|TEX33_ENST00000381821.1_Missense_Mutation_p.Q130H			O43247	EAN57_HUMAN	testis expressed 33	130																	GCGTGCTCCTCTGGTCCTGAG	0.622000													4	3					0	0	0.184627	0	0
SP8	221833	broad.mit.edu	37	7	20825272	20825272	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:20825272G>A	ENST00000361443.4	-	3	347	c.110C>T	c.(109-111)tCg>tTg	p.S37L	SP8_ENST00000418710.2_Missense_Mutation_p.S55L	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	37	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						AGAAGAGGACGAGGAGCGTTT	0.632000													12	8					0	0	0.093190	0	0
FANCM	57697	broad.mit.edu	37	14	45605331	45605331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr14:45605331C>T	ENST00000267430.5	+	1	182	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	FANCM_ENST00000556036.1_Nonsense_Mutation_p.Q33*|FANCM_ENST00000542564.2_Nonsense_Mutation_p.Q33*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	33					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGAGCGACCTCAGAGCCCTGG	0.612000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				17	15					0	0	0.146539	0	0
GHITM	27069	broad.mit.edu	37	10	85908554	85908554	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:85908554G>C	ENST00000372134.3	+	6	745	c.552G>C	c.(550-552)caG>caC	p.Q184H		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	184					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CATATGACCAGAGCCCAGGCC	0.433000													5	7					0	0	0.021553	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111616005	111616005	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:111616005C>T	ENST00000261486.5	-	3	496	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	74	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGGGTTTTTGCAGGATCCAGC	0.338000													4	130					0	0	0.150653	0	0
POLE	5426	broad.mit.edu	37	12	133219267	133219267	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:133219267G>C	ENST00000320574.5	-	37	4820	c.4777C>G	c.(4777-4779)Ctg>Gtg	p.L1593V	POLE_ENST00000535270.1_Missense_Mutation_p.L1566V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1593					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGCCTCTTCAGCTCCCAGCTG	0.572000								DNA polymerases (catalytic subunits)					9	24					0	0	0.058154	0	0
CENPU	79682	broad.mit.edu	37	4	185631326	185631326	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:185631326C>T	ENST00000281453.5	-	8	767	c.697G>A	c.(697-699)Gac>Aac	p.D233N	MLF1IP_ENST00000506535.1_5'UTR|MLF1IP_ENST00000541971.1_Missense_Mutation_p.D233N	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		233					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		TGCACAATGTCAGAAGTATCT	0.378000													7	26					0	0	0.038147	0	0
PKN2	5586	broad.mit.edu	37	1	89290027	89290027	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:89290027G>C	ENST00000370521.3	+	18	2736	c.2377G>C	c.(2377-2379)Gag>Cag	p.E793Q	PKN2_ENST00000370505.3_Missense_Mutation_p.E636Q|PKN2_ENST00000544045.1_Missense_Mutation_p.E467Q|PKN2_ENST00000370513.5_Missense_Mutation_p.E745Q	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	793	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GCTAGATACAGAGGGCTTTGT	0.303000													14	26					0	0	0.132662	0	0
C8A	731	broad.mit.edu	37	1	57333329	57333329	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:57333329G>A	ENST00000361249.3	+	2	221	c.125G>A	c.(124-126)aGc>aAc	p.S42N		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	42	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCCAGCTGAGCAACTGGTCA	0.453000													9	17					0	0	0.058154	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29488970	29488970	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:29488970C>T	ENST00000283351.4	-	7	1204	c.869G>A	c.(868-870)gGc>gAc	p.G290D	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.G290D|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G236D	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	290					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTTGGTAAGCCATCTACTGA	0.373000													7	12					0	0	0.038147	0	0
CTBP2	1488	broad.mit.edu	37	10	126682463	126682463	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:126682463C>G	ENST00000309035.6	-	6	2622	c.2492G>C	c.(2491-2493)cGa>cCa	p.R831P	CTBP2_ENST00000334808.6_Missense_Mutation_p.R359P|CTBP2_ENST00000531469.1_Missense_Mutation_p.R291P|CTBP2_ENST00000337195.5_Missense_Mutation_p.R291P|CTBP2_ENST00000494626.2_Missense_Mutation_p.R291P|CTBP2_ENST00000411419.2_Missense_Mutation_p.R291P	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	291					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGCTGCCCCTCGTATCCTGCC	0.647000													34	69					0	0	0.203993	0	0
IMPG2	50939	broad.mit.edu	37	3	101038479	101038479	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:101038479C>T	ENST00000193391.7	-	2	470	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	95					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCAACACTTTCATCTGGGCAG	0.418000													62	42					0	0	0.139131	0	0
PLK1	5347	broad.mit.edu	37	16	23691520	23691520	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:23691520G>C	ENST00000300093.4	+	2	635	c.524G>C	c.(523-525)cGa>cCa	p.R175P	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	175	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GTTATTCATCGAGACCTCAAG	0.522000													9	31					0	0	0.047766	0	0
KIAA2022	340533	broad.mit.edu	37	X	73965413	73965413	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:73965413C>G	ENST00000055682.6	-	2	684	c.73G>C	c.(73-75)Gaa>Caa	p.E25Q		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTACCATTTTCTTTGACCCCA	0.363000													15	3					0	0	0.132662	0	0
RYR2	6262	broad.mit.edu	37	1	237806719	237806719	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:237806719C>T	ENST00000366574.2	+	48	7631	c.7314C>T	c.(7312-7314)atC>atT	p.I2438I	RYR2_ENST00000542537.1_Silent_p.I2422I|RYR2_ENST00000360064.6_Silent_p.I2436I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2438	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I2436M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTATCAGCATCGCTTTTCAGA	0.438000													12	47					0	0	0.080935	0	0
SCN3A	6328	broad.mit.edu	37	2	166011106	166011106	+	Silent	SNP	T	T	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:166011106T>G	ENST00000360093.3	-	11	1727	c.1236A>C	c.(1234-1236)tcA>tcC	p.S412S	SCN3A_ENST00000283254.7_Silent_p.S412S|SCN3A_ENST00000409101.3_Silent_p.S412S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	412						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCAAATAAAATGAGCCCAAGA	0.433000													4	76					0	0	0.150653	0	0
LRRC6	23639	broad.mit.edu	37	8	133645132	133645132	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr8:133645132G>C	ENST00000519595.1	-	5	605	c.507C>G	c.(505-507)atC>atG	p.I169M	LRRC6_ENST00000250173.1_Missense_Mutation_p.I169M|LRRC6_ENST00000518642.1_Missense_Mutation_p.I169M|LRRC6_ENST00000520446.1_Intron			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	169						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTGCTCTCTGATTTGTGGTT	0.368000													94	16					0	0	0.139131	0	0
SLC9A4	389015	broad.mit.edu	37	2	103124628	103124628	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:103124628G>A	ENST00000295269.4	+	5	1746	c.1289G>A	c.(1288-1290)cGa>cAa	p.R430Q		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	430					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGTGGTGTTCGAGGAGCTGGA	0.408000													12	32					0	0	0.080935	0	0
CYP3A43	64816	broad.mit.edu	37	7	99459391	99459391	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:99459391G>A	ENST00000354829.2	+	11	1285	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Silent_p.V394V|CYP3A43_ENST00000312017.5_Silent_p.V394V|CYP3A43_ENST00000342499.4_Silent_p.V254V|CYP3A43_ENST00000417625.1_Silent_p.V284V|CYP3A43_ENST00000444905.1_Silent_p.V141V|CYP3A43_ENST00000415413.1_Silent_p.V183V	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	394			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GGTTAGCAGTGATGGTTCCAA	0.458000													13	53					0	0	0.093190	0	0
PUS10	150962	broad.mit.edu	37	2	61192574	61192574	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:61192574C>T	ENST00000316752.6	-	7	922	c.661G>A	c.(661-663)Gag>Aag	p.E221K	PUS10_ENST00000407787.1_Missense_Mutation_p.E221K	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	221					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGGCAATCCTCAACTGTTTCT	0.348000													52	98					0	0	0.139131	0	0
MYO3A	53904	broad.mit.edu	37	10	26432477	26432477	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:26432477C>G	ENST00000265944.5	+	21	2529	c.2363C>G	c.(2362-2364)tCc>tGc	p.S788C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	788	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.S788Y(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTTTACTTTCCCTACTTGAT	0.398000													3	45					0	0	0.115264	0	0
CSDC2	27254	broad.mit.edu	37	22	41968114	41968114	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr22:41968114C>T	ENST00000306149.7	+	2	689	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	49					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding			prostate(2)|upper_aerodigestive_tract(1)	3						ACCCAGCCCTCTGCCCACCAA	0.667000													3	4					0	0	0.115264	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322903	61322903	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:61322903G>A	ENST00000283752.5	-	8	1304	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.F335F	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	387					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACGGGGATGAGAATCTGCCAT	0.413000													29	66					0	0	0.153744	0	0
PDHA1	5160	broad.mit.edu	37	X	19375797	19375797	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:19375797T>C	ENST00000379806.5	+	10	1118	c.973T>C	c.(973-975)Tac>Cac	p.Y325H	PDHA1_ENST00000545074.1_Missense_Mutation_p.Y294H|PDHA1_ENST00000422285.2_Missense_Mutation_p.Y287H|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000379804.1_Missense_Mutation_p.Y6H|PDHA1_ENST00000540249.1_Missense_Mutation_p.Y256H	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	287					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GCTGCAGACTTACCGTTACCA	0.532000													5	76					0	0	0.021553	0	0
ASXL3	80816	broad.mit.edu	37	18	31318980	31318980	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:31318980G>C	ENST00000269197.5	+	11	1612	c.1612G>C	c.(1612-1614)Gaa>Caa	p.E538Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGATCAGTTAGAAGTCTGTGA	0.403000													5	4					0	0	0.021553	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166810	180166810	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:180166810G>A	ENST00000307832.2	-	1	289	c.249C>T	c.(247-249)atC>atT	p.I83I		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCAAAGGTTGATCAGGAGCT	0.597000													12	25					0	0	0.080935	0	0
NOS1	4842	broad.mit.edu	37	12	117698415	117698415	+	Splice_Site	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:117698415C>T	ENST00000317775.6	-	14	2908		c.e14-1		NOS1_ENST00000338101.4_Splice_Site|NOS1_ENST00000344089.3_Splice_Site	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)						multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTGACAGCTCTGGAGGGAAG	0.498000													8	14					0	0	0.058154	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864199	144864199	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:144864199C>A	ENST00000369359.4	-	39	6342	c.6304G>T	c.(6304-6306)Gag>Tag	p.E2102*	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E2051*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.E1966*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E1860*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.E1966*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1966					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTGCTTCTCCCTCAAGTCT	0.537000			T	PDGFRB	MPD								39	302					6.33695e-27	6.76553e-27	0.098360	1	0
FEN1	2237	broad.mit.edu	37	11	61563388	61563388	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:61563388C>A	ENST00000305885.2	+	2	968	c.555C>A	c.(553-555)ttC>ttA	p.F185L	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	185	I-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GCCTCACCTTCGGCAGCCCTG	0.587000								Editing and processing nucleases					23	39					4.26978e-12	4.46156e-12	0.083992	1	0
VWF	7450	broad.mit.edu	37	12	6138561	6138561	+	Missense_Mutation	SNP	C	C	T	rs150418484		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:6138561C>T	ENST00000261405.5	-	22	3168	c.2914G>A	c.(2914-2916)Gtg>Atg	p.V972M		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	972	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCCAGACCACGGAGAGGGCT	0.562000													31	37					0	0	0.144211	0	0
ZNF16	7564	broad.mit.edu	37	8	146157836	146157836	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr8:146157836C>T	ENST00000276816.4	-	4	523	c.337G>A	c.(337-339)Gta>Ata	p.V113I	ZNF16_ENST00000394909.2_Missense_Mutation_p.V113I	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTTTCTGATACATCATCACAC	0.532000													4	99					0	0	0.150653	0	0
KMT2D	8085	broad.mit.edu	37	12	49420164	49420164	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:49420164C>T	ENST00000301067.7	-	48	15584	c.15585G>A	c.(15583-15585)caG>caA	p.Q5195Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGTCAGCCATCTGGTGAGGCA	0.587000													11	19					0	0	0.069234	0	0
MACC1	346389	broad.mit.edu	37	7	20198032	20198032	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:20198032G>C	ENST00000400331.5	-	5	2260	c.1952C>G	c.(1951-1953)tCa>tGa	p.S651*	MACC1_ENST00000589011.1_Nonsense_Mutation_p.S651*|MACC1_ENST00000332878.4_Nonsense_Mutation_p.S651*	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	651					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TAATACAACTGAGTAGATATA	0.343000													34	42					0	0	0.173368	0	0
DENND4A	10260	broad.mit.edu	37	15	65962153	65962153	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr15:65962153G>C	ENST00000443035.3	-	27	4963	c.4748C>G	c.(4747-4749)tCt>tGt	p.S1583C	DENND4A_ENST00000431932.2_Missense_Mutation_p.S1540C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGAGAGAGCAGATGTGTCAAG	0.353000													4	11					0	0	0.150653	0	0
TTC39C	125488	broad.mit.edu	37	18	21662956	21662956	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:21662956G>A	ENST00000317571.3	+	6	1131	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Missense_Mutation_p.E238K	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	299							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AGGCCTGGATGAAGCTAAGGA	0.438000													19	71					0	0	0.175082	0	0
FGD3	89846	broad.mit.edu	37	9	95782677	95782677	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr9:95782677G>A	ENST00000375482.3	+	13	1961	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	FGD3_ENST00000337352.6_Missense_Mutation_p.E489K|FGD3_ENST00000416701.2_Missense_Mutation_p.E489K|FGD3_ENST00000538555.1_Missense_Mutation_p.E92K	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	489					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CAGCCAGGATGAGGACCCCAG	0.587000													19	4					0	0	0.175082	0	0
OR10H2	26538	broad.mit.edu	37	19	15839447	15839447	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:15839447G>A	ENST00000305899.3	+	1	614	c.594G>A	c.(592-594)ctG>ctA	p.L198L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTGTGGCCCTGGGCGTGGGCT	0.502000													29	31					0	0	0.125774	0	0
FASLG	356	broad.mit.edu	37	1	172635061	172635061	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:172635061C>T	ENST00000367721.2	+	4	935	c.751C>T	c.(751-753)Ctt>Ttt	p.L251F	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	251					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						AGTGTTCAATCTTACCAGTGC	0.478000													42	49					0	0	0.092188	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													5	54					0	0	0.184627	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612738	79612738	+	RNA	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:79612738C>T	ENST00000328585.4	+	0	764				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			cacagtcactcacacgtacat	0.567000													3	4					0	0	0.115264	0	0
OBSL1	23363	broad.mit.edu	37	2	220419306	220419306	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:220419306G>A	ENST00000404537.1	-	15	4822	c.4766C>T	c.(4765-4767)tCg>tTg	p.S1589L	OBSL1_ENST00000373876.1_Missense_Mutation_p.S1497L|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1589					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTGGCCGTCCGAGTGGATGTG	0.642000													9	10					0	0	0.047766	0	0
PNPT1	87178	broad.mit.edu	37	2	55920907	55920907	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:55920907C>T	ENST00000447944.2	-	1	138	c.52G>A	c.(52-54)Gat>Aat	p.D18N		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	18					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAAGGACCATCGCTCAGGGGC	0.657000													14	43					0	0	0.132662	0	0
KCNH1	3756	broad.mit.edu	37	1	211192478	211192478	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:211192478A>C	ENST00000367007.4	-	6	848	c.679T>G	c.(679-681)Ttg>Gtg	p.L227V	KCNH1_ENST00000271751.4_Missense_Mutation_p.L227V	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	227					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TAGAAGGTCAAGATCAAGATG	0.443000													8	65					0	0	0.038147	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33628221	33628221	+	Silent	SNP	A	A	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:33628221A>G	ENST00000321505.4	+	13	4203	c.4023A>G	c.(4021-4023)ctA>ctG	p.L1341L	KIAA1549L_ENST00000389726.3_Silent_p.L1347L					KIAA1549-like																		GAGCGGTTCTATTTGACAACT	0.517000													4	18					0	0	0.184627	0	0
VEPH1	79674	broad.mit.edu	37	3	157081453	157081453	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:157081453G>C	ENST00000362010.2	-	9	1742	c.1435C>G	c.(1435-1437)Ctt>Gtt	p.L479V	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.L479V|VEPH1_ENST00000392833.2_Missense_Mutation_p.L479V|VEPH1_ENST00000543418.1_Missense_Mutation_p.L479V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	479						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ATTTCTGAAAGAGAGATGCTG	0.473000													9	64					0	0	0.058154	0	0
STARD7	56910	broad.mit.edu	37	2	96874015	96874015	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:96874015G>A	ENST00000337288.5	-	1	541	c.158C>T	c.(157-159)tCa>tTa	p.S53L		NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	53						mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AACGCGGCGTGAGCTCTCGGA	0.706000													9	12					0	0	0.047766	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45506830	45506830	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr21:45506830C>G	ENST00000291574.4	+	16	2703	c.2528C>G	c.(2527-2529)tCc>tGc	p.S843C		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	843					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTGGTCTACTCCAACACGAGA	0.607000													14	39					0	0	0.119110	0	0
HELZ2	85441	broad.mit.edu	37	20	62192537	62192537	+	Silent	SNP	G	G	A	rs140401204		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:62192537G>A	ENST00000467148.1	-	14	7113	c.7044C>T	c.(7042-7044)agC>agT	p.S2348S	HELZ2_ENST00000427522.2_Silent_p.S1779S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGATTTTGAGGCTGGCAGAGG	0.607000													10	37					0	0	0.058154	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			194	33					0	0	0.139131	0	0
TM2D1	83941	broad.mit.edu	37	1	62190664	62190664	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:62190664C>T	ENST00000371177.2	-	1	141	c.129G>A	c.(127-129)gaG>gaA	p.E43E	TM2D1_ENST00000294613.5_Silent_p.E43E|TM2D1_ENST00000371180.2_Silent_p.E105E|TM2D1_ENST00000606498.1_Silent_p.E43E			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	43					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						TAAGCGACTCCTCGCCCCCGG	0.637000													13	25					0	0	0.093190	0	0
ATP9A	10079	broad.mit.edu	37	20	50225113	50225113	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:50225113C>G	ENST00000338821.5	-	25	2953	c.2689G>C	c.(2689-2691)Gat>Cat	p.D897H	ATP9A_ENST00000311637.5_Missense_Mutation_p.D761H|ATP9A_ENST00000402822.1_Missense_Mutation_p.D776H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	897					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GATTTGACATCTTTGTCCAGG	0.478000													20	30					0	0	0.062417	0	0
BAG6	7917	broad.mit.edu	37	6	31615465	31615465	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:31615465C>G	ENST00000404765.2	-	7	980	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q	BAG6_ENST00000211379.5_Missense_Mutation_p.E231Q|BAG6_ENST00000375964.6_Missense_Mutation_p.E237Q|BAG6_ENST00000362049.6_Missense_Mutation_p.E231Q|BAG6_ENST00000375976.4_Missense_Mutation_p.E231Q|BAG6_ENST00000439687.2_Missense_Mutation_p.E231Q			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	237	Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TCCACTTCTTCTGCCTCCATG	0.642000													66	99					0	0	0.139131	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													4	72					0	0	0.021553	0	0
SMARCA2	6595	broad.mit.edu	37	9	2083369	2083369	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr9:2083369G>A	ENST00000382203.1	+	16	2580	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	SMARCA2_ENST00000349721.2_Missense_Mutation_p.E791K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E791K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E791K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	791	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTGGACATATGAATTTGACAA	0.289000													36	13					0	0	0.193644	0	0
TJP2	9414	broad.mit.edu	37	9	71855004	71855004	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr9:71855004C>A	ENST00000377245.4	+	17	2715	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y	TJP2_ENST00000535702.1_Missense_Mutation_p.S840Y|TJP2_ENST00000453658.2_Missense_Mutation_p.S813Y|TJP2_ENST00000348208.4_Missense_Mutation_p.S836Y|TJP2_ENST00000265384.7_Missense_Mutation_p.S836Y|TJP2_ENST00000539225.1_Missense_Mutation_p.S867Y	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	836	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AACAAAAGTTCTCGAAAGTTA	0.378000													9	7					0.000442599	0.000449722	0.058154	1	0
TTN	7273	broad.mit.edu	37	2	179442902	179442902	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:179442902G>C	ENST00000589042.1	-	322	68564	c.68340C>G	c.(68338-68340)ctC>ctG	p.L22780L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.L13715L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.L13840L|TTN_ENST00000342175.6_Silent_p.L13907L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.L20212L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L21139L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21139							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)			CCTTGAACTCGAGATGATACC	0.358000													18	33					0	0	0.189662	0	0
PPM1L	151742	broad.mit.edu	37	3	160786656	160786656	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:160786656G>A	ENST00000498165.1	+	4	895	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	PPM1L_ENST00000464260.1_Missense_Mutation_p.R86Q|PPM1L_ENST00000295839.9_Missense_Mutation_p.R138Q|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	265	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GCCATGTCTCGGTCCCTGGGG	0.512000													10	42					0	0	0.069234	0	0
ZNF292	23036	broad.mit.edu	37	6	87968359	87968359	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:87968359C>T	ENST00000369577.3	+	8	5055	c.5012C>T	c.(5011-5013)tCa>tTa	p.S1671L	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1666L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACCTTCATTCAAATGTAATT	0.343000													3	15					0	0	0.115264	0	0
UNC13D	201294	broad.mit.edu	37	17	73824970	73824970	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:73824970C>T	ENST00000207549.4	-	31	3428	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	UNC13D_ENST00000412096.2_Missense_Mutation_p.E1017K	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1017	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGAAGGCCTCGCCTTCCAGG	0.706000									Familial Hemophagocytic Lymphohistiocytosis				7	7					0	0	0.047766	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886728	45886728	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:45886728G>A	ENST00000007414.3	-	19	2188	c.1997C>T	c.(1996-1998)tCc>tTc	p.S666F	OSBPL7_ENST00000392507.3_Missense_Mutation_p.S666F	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	666					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCAGTGGCAGGAGCTGTCCTG	0.582000													19	13					0	0	0.204396	0	0
DST	667	broad.mit.edu	37	6	56357812	56357812	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:56357812G>C	ENST00000370754.5	-	84	20376	c.20377C>G	c.(20377-20379)Cag>Gag	p.Q6793E	DST_ENST00000446842.2_Missense_Mutation_p.Q6289E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q4418E|DST_ENST00000421834.2_Missense_Mutation_p.Q4527E|DST_ENST00000244364.6_Missense_Mutation_p.Q4201E|DST_ENST00000370769.4_Missense_Mutation_p.Q6615E|DST_ENST00000361203.3_Missense_Mutation_p.Q6504E			Q03001	DYST_HUMAN	dystonin	6613					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTCAGCCTGAGTAAGCCAG	0.428000													8	13					0	0	0.038147	0	0
ARID1A	8289	broad.mit.edu	37	1	27059273	27059273	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:27059273C>G	ENST00000324856.7	+	4	2281	c.1910C>G	c.(1909-1911)tCc>tGc	p.S637C	ARID1A_ENST00000457599.2_Missense_Mutation_p.S637C|ARID1A_ENST00000374152.2_Missense_Mutation_p.S254C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	637					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCAAGACCCTCCAGCTTGCCT	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								16	31					0	0	0.146539	0	0
CST3	1471	broad.mit.edu	37	20	23614619	23614619	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:23614619G>A	ENST00000398411.1	-	3	457	c.375C>T	c.(373-375)ttC>ttT	p.F125F	CST3_ENST00000376925.3_Silent_p.F125F|CST3_ENST00000398409.1_Silent_p.F125F			P01034	CYTC_HUMAN	cystatin C	125					defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CGTAGATCTGGAAAGAGCAGA	0.542000													14	22					0	0	0.105934	0	0
UNK	85451	broad.mit.edu	37	17	73780919	73780919	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:73780919G>C	ENST00000293218.3	+	2	186	c.186G>C	c.(184-186)ctG>ctC	p.L62L	H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCGCAGACTGAATAATAAAA	0.687000													6	8					0	0	0.021553	0	0
SLC25A24	29957	broad.mit.edu	37	1	108679443	108679443	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:108679443G>A	ENST00000565488.1	-	10	1485	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	SLC25A24_ENST00000370041.4_Silent_p.S403S	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	422					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TCAGCTGTGGGGAACCTTCTA	0.363000													3	44					0	0	0.115264	0	0
ZNF532	55205	broad.mit.edu	37	18	56587581	56587581	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:56587581G>A	ENST00000336078.4	+	4	2838	c.2062G>A	c.(2062-2064)Gat>Aat	p.D688N	ZNF532_ENST00000591083.1_Missense_Mutation_p.D688N|ZNF532_ENST00000591808.1_Missense_Mutation_p.D688N|ZNF532_ENST00000591230.1_Missense_Mutation_p.D688N|ZNF532_ENST00000589288.1_Missense_Mutation_p.D688N	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGTCCCAGCAGATCAAATGAT	0.463000													14	41					0	0	0.132662	0	0
RARRES1	5918	broad.mit.edu	37	3	158431619	158431619	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:158431619G>A	ENST00000237696.5	-	2	586	c.306C>T	c.(304-306)caC>caT	p.H102H	RARRES1_ENST00000498640.1_5'UTR|RARRES1_ENST00000479756.1_Silent_p.H102H	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	102					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	TGAAGACCACGTGAACTTTAC	0.403000													5	113					0	0	0.021553	0	0
ATM	472	broad.mit.edu	37	11	108198371	108198371	+	Splice_Site	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:108198371G>C	ENST00000278616.4	+	48	7360		c.e48-1		ATM_ENST00000452508.2_Splice_Site|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated						cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCTTATACAGAACAATCCCA	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			13	3					0	0	0.105934	0	0
ZBTB45	84878	broad.mit.edu	37	19	59027768	59027768	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:59027768G>A	ENST00000594051.1	-	2	1753	c.1273C>T	c.(1273-1275)Cac>Tac	p.H425Y	ZBTB45_ENST00000600990.1_Missense_Mutation_p.H425Y|ZBTB45_ENST00000354590.3_Missense_Mutation_p.H425Y			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCACCCGAGTGGATGAACATG	0.577000													22	30					0	0	0.069288	0	0
DCLK2	166614	broad.mit.edu	37	4	151153947	151153947	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:151153947C>T	ENST00000296550.7	+	10	2287	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	DCLK2_ENST00000302176.8_Silent_p.I528I|DCLK2_ENST00000506325.1_Silent_p.I510I	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	511	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCTCAGCATCGTGCACAGAG	0.458000													21	71					0	0	0.055883	0	0
CXCL9	4283	broad.mit.edu	37	4	76928584	76928584	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:76928584G>C	ENST00000264888.5	-	1	57	c.19C>G	c.(19-21)Ctt>Gtt	p.L7V		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	7					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGAGGAAAAGAACACCACTT	0.398000													55	45					0	0	0.139131	0	0
ITPR3	3710	broad.mit.edu	37	6	33653872	33653872	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:33653872G>A	ENST00000374316.5	+	43	6770	c.5710G>A	c.(5710-5712)Gta>Ata	p.V1904I	ITPR3_ENST00000605930.1_Missense_Mutation_p.V1904I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1904					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTACAACTTGGTATGCGAGAC	0.602000													3	35					0	0	0.150653	0	0
ITGAV	3685	broad.mit.edu	37	2	187455198	187455198	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:187455198G>A	ENST00000261023.3	+	1	407	c.133G>A	c.(133-135)Gag>Aag	p.E45K	ITGAV_ENST00000374907.3_Missense_Mutation_p.E45K	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	45					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTCTGGCCCCGAGGGAAGTTA	0.662000													11	24					0	0	0.105934	0	0
FRG1B	284802	broad.mit.edu	37	20	29623221	29623221	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:29623221G>T	ENST00000278882.3	+	3	413	c.33G>T	c.(31-33)atG>atT	p.M11I	FRG1B_ENST00000439954.2_Missense_Mutation_p.G13C|FRG1B_ENST00000358464.4_Missense_Mutation_p.M11I																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTCGACAATGGTCTTTTTAC	0.413000													12	441					1.02788e-11	1.069e-11	0.160694	1	0
TSPAN10	83882	broad.mit.edu	37	17	79612272	79612272	+	RNA	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:79612272C>T	ENST00000328585.4	+	0	381				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCCTGGCCATCGGGCTCTGGG	0.677000													37	33					0	0	0.092188	0	0
RBM14	10432	broad.mit.edu	37	11	66392422	66392422	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:66392422C>T	ENST00000310137.4	+	2	1214	c.1075C>T	c.(1075-1077)Cgt>Tgt	p.R359C	RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	359	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTATGGGGTTCGTGCAGCTGC	0.607000													28	53					0	0	0.125774	0	0
NEK4	6787	broad.mit.edu	37	3	52786178	52786178	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:52786178C>G	ENST00000233027.5	-	7	1340	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	NEK4_ENST00000383721.4_Missense_Mutation_p.D380H|NEK4_ENST00000535191.1_Missense_Mutation_p.D291H	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	380					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		ACAAAGCCATCACTCACTGAA	0.438000													51	153					0	0	0.139131	0	0
RIC8A	60626	broad.mit.edu	37	11	212627	212627	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:212627C>G	ENST00000526104.1	+	7	2422	c.1078C>G	c.(1078-1080)Ctg>Gtg	p.L360V	RIC8A_ENST00000527696.1_Missense_Mutation_p.L354V|RIC8A_ENST00000325207.5_Missense_Mutation_p.L366V			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	360						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTGCCCCCTCTGCGGGATGT	0.622000													8	7					0	0	0.047766	0	0
ABCC5	10057	broad.mit.edu	37	3	183643450	183643450	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:183643450G>C	ENST00000334444.6	-	29	4345	c.4105C>G	c.(4105-4107)Caa>Gaa	p.Q1369E	ABCC5_ENST00000265586.6_Missense_Mutation_p.Q1326E	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1369	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGGTCTCTTGAATCAATAAG	0.478000													32	47					0	0	0.163468	0	0
APLF	200558	broad.mit.edu	37	2	68765094	68765094	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:68765094G>C	ENST00000303795.4	+	7	1066	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	299					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						ACTTCCAATAGAGGAACTTGG	0.343000													13	22					0	0	0.105934	0	0
ADAT2	134637	broad.mit.edu	37	6	143749800	143749800	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:143749800C>T	ENST00000606514.1	-	5	924	c.340G>A	c.(340-342)Gag>Aag	p.E114K	ADAT2_ENST00000237283.8_Missense_Mutation_p.E161K			Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	161					tRNA processing		hydrolase activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACTGCTTCCTCAGCCCGATAT	0.363000													16	6					0	0	0.160694	0	0
OR6K2	81448	broad.mit.edu	37	1	158669765	158669765	+	Silent	SNP	A	A	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:158669765A>G	ENST00000359610.2	-	1	721	c.678T>C	c.(676-678)atT>atC	p.I226I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GAATACGTAGAATTACAGCCA	0.458000													8	63					0	0	0.038147	0	0
LSS	4047	broad.mit.edu	37	21	47611825	47611825	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr21:47611825C>G	ENST00000397728.3	-	21	2115	c.2037G>C	c.(2035-2037)gaG>gaC	p.E679D	LSS_ENST00000356396.4_Missense_Mutation_p.E679D|LSS_ENST00000457828.2_Missense_Mutation_p.E599D|LSS_ENST00000522411.1_Missense_Mutation_p.E668D	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	679					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGAGCTGTTTCTCAAGTAGAC	0.612000													4	7					0	0	0.184627	0	0
GABRA4	2557	broad.mit.edu	37	4	46930377	46930377	+	Silent	SNP	A	A	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:46930377A>C	ENST00000264318.3	-	9	2512	c.1530T>G	c.(1528-1530)ccT>ccG	p.P510P		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	510					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGATCCAGAAGGTGGTGGAG	0.433000													5	106					0	0	0.021553	0	0
TEX33	339669	broad.mit.edu	37	22	37398085	37398085	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr22:37398085C>T	ENST00000405091.2	-	4	533	c.282G>A	c.(280-282)aaG>aaA	p.K94K	TEX33_ENST00000402860.3_Silent_p.K9K|TEX33_ENST00000381821.1_Silent_p.K94K			O43247	EAN57_HUMAN	testis expressed 33	94																	AGCCCGCATTCTTCAGGGACC	0.652000													4	7					0	0	0.150653	0	0
SPTAN1	6709	broad.mit.edu	37	9	131386709	131386709	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr9:131386709G>A	ENST00000358161.5	+	46	6048	c.5935G>A	c.(5935-5937)Gag>Aag	p.E1979K	SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1979K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1974K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1974					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAAGCTGGATGAGAACTCGGC	0.557000													13	4					0	0	0.093190	0	0
SEC24A	10802	broad.mit.edu	37	5	134041031	134041031	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:134041031C>G	ENST00000398844.2	+	17	2743	c.2455C>G	c.(2455-2457)Cgt>Ggt	p.R819G		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	819					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.R819C(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAAGAATTCGTGTTCATAC	0.368000													23	19					0	0	0.091800	0	0
TIAM2	26230	broad.mit.edu	37	6	155451529	155451529	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:155451529C>T	ENST00000461783.3	+	6	2445	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	TIAM2_ENST00000529824.2_Missense_Mutation_p.S391L|TIAM2_ENST00000360366.4_Missense_Mutation_p.S391L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.S391L|TIAM2_ENST00000318981.5_Missense_Mutation_p.S391L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	391					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGAAGCCTCTCAAGGAAGAAA	0.552000													11	16					0	0	0.080935	0	0
CNGB1	1258	broad.mit.edu	37	16	57965759	57965759	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:57965759C>G	ENST00000564448.1	-	17	1438	c.1378G>C	c.(1378-1380)Gaa>Caa	p.E460Q	CNGB1_ENST00000564654.1_5'UTR|CNGB1_ENST00000251102.8_Missense_Mutation_p.E466Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	466					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ACCTGCACTTCTGGGTGCTGT	0.557000													9	13					0	0	0.069234	0	0
RELT	84957	broad.mit.edu	37	11	73102207	73102207	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:73102207G>A	ENST00000064780.2	+	5	567	c.306G>A	c.(304-306)ggG>ggA	p.G102G	RELT_ENST00000393580.2_Silent_p.G102G	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	102						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGCCTTGGGGGGTTCCCCGCG	0.577000													32	40					0	0	0.193644	0	0
CHN1	1123	broad.mit.edu	37	2	175666440	175666440	+	Silent	SNP	T	T	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:175666440T>C	ENST00000409900.3	-	12	1516	c.1203A>G	c.(1201-1203)ctA>ctG	p.L401L	CHN1_ENST00000295497.7_Silent_p.L276L|CHN1_ENST00000409597.1_Silent_p.L217L|CHN1_ENST00000409156.3_Silent_p.L375L|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	401	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CTTGCCTCTTTAGATGTGCCA	0.408000			T	TAF15	extraskeletal myxoid chondrosarcoma								39	28					0	0	0.092188	0	0
FUT2	2524	broad.mit.edu	37	19	49207042	49207042	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:49207042C>G	ENST00000425340.2	+	2	946	c.829C>G	c.(829-831)Cta>Gta	p.L277V	FUT2_ENST00000391876.4_Missense_Mutation_p.L277V	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	277					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AGATTTTGCTCTACTCACACA	0.547000													36	54					0	0	0.183431	0	0
KTN1	3895	broad.mit.edu	37	14	56078992	56078992	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr14:56078992G>A	ENST00000416613.1	+	1	298	c.226G>A	c.(226-228)Gac>Aac	p.D76N	KTN1_ENST00000395311.1_Missense_Mutation_p.D76N|KTN1_ENST00000413890.2_Missense_Mutation_p.D76N|KTN1_ENST00000395314.3_Missense_Mutation_p.D76N|KTN1_ENST00000395309.3_Missense_Mutation_p.D76N|KTN1_ENST00000395308.1_Missense_Mutation_p.D76N|KTN1_ENST00000438792.2_Missense_Mutation_p.D76N			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	76					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CCATGAATCCGACTCTGAGAG	0.358000			T	RET	papillary thryoid								11	32					0	0	0.080935	0	0
CNOT1	23019	broad.mit.edu	37	16	58621779	58621779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:58621779G>A	ENST00000317147.5	-	4	546	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q72*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q72*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	72					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCAGAAACTGAGTCTTTAAA	0.353000													11	30					0	0	0.069234	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745339	135745339	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:135745339G>A	ENST00000375845.3	-	7	1133	c.1103C>T	c.(1102-1104)tCa>tTa	p.S368L	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S385L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S255L	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CTTTCTTGATGAAAGATATTG	0.383000													18	24					0	0	0.160694	0	0
BAZ1B	9031	broad.mit.edu	37	7	72891240	72891240	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:72891240G>A	ENST00000339594.4	-	7	2889	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*	BAZ1B_ENST00000404251.1_Nonsense_Mutation_p.Q851*	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	851					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTTAGCTTGAATGGCAAGC	0.393000													59	84					0	0	0.139131	0	0
OR10J5	127385	broad.mit.edu	37	1	159505755	159505755	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:159505755A>C	ENST00000334857.2	-	1	87	c.43T>G	c.(43-45)Ttg>Gtg	p.L15V		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GAAAATCCCAAGAAAATGAAT	0.363000													7	94					0	0	0.038147	0	0
C2orf44	80304	broad.mit.edu	37	2	24255804	24255804	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:24255804G>C	ENST00000295148.4	-	3	1888	c.1831C>G	c.(1831-1833)Cta>Gta	p.L611V	C2orf44_ENST00000406895.3_Intron	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	611							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGACCTAGATAATAAGGT	0.338000			T	ALK	NSCLC								26	30					0	0	0.108266	0	0
ACIN1	22985	broad.mit.edu	37	14	23548034	23548034	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr14:23548034C>G	ENST00000262710.1	-	7	2503	c.2176G>C	c.(2176-2178)Gag>Cag	p.E726Q	ACIN1_ENST00000605057.1_Missense_Mutation_p.E668Q|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000457657.1_Missense_Mutation_p.E686Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.E726Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	726					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCTACCCGCTCAGGCTGTAAC	0.493000													8	10					0	0	0.047766	0	0
GNAS	2778	broad.mit.edu	37	20	57466824	57466824	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:57466824G>A	ENST00000354359.7	+	1	467	c.43G>A	c.(43-45)Gag>Aag	p.E15K	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371081.1_Missense_Mutation_p.E15K|GNAS_ENST00000371102.4_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.E15K|GNAS_ENST00000371100.4_Intron|GNAS_ENST00000306090.10_Missense_Mutation_p.E15K|GNAS_ENST00000371095.3_Missense_Mutation_p.E15K|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000265620.7_Missense_Mutation_p.E15K	NM_001077488.2	NP_001070956.1	P63092	GNAS2_HUMAN	GNAS complex locus	15					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCAGCGCAACGAGGAGAAGGC	0.716000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	16					0	0	0.184627	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684212	75684212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:75684212G>A	ENST00000370855.5	-	17	1605	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*	SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.R498*|SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.R368*	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	498						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGTGGATATCGTGGGATGTCA	0.428000													5	117					0	0	0.184627	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123646746	123646746	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:123646746C>T	ENST00000606320.1	-	21	3255	c.3049G>A	c.(3049-3051)Gat>Aat	p.D1017N	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D987N|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D865N|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D865N			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	865					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTATCTAAATCATCCAAAAGT	0.353000													16	26					0	0	0.175082	0	0
CCP110	9738	broad.mit.edu	37	16	19543791	19543791	+	Silent	SNP	T	T	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:19543791T>C	ENST00000396212.2	+	4	631	c.195T>C	c.(193-195)gaT>gaC	p.D65D	CCP110_ENST00000396208.2_Silent_p.D65D|CCP110_ENST00000381396.5_Silent_p.D65D	NM_014711.4	NP_055526	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	65	CEP97 binding.|Calmodulin-binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAGCACTTGATGTAGAAGCAA	0.353000													5	38					0	0	0.184627	0	0
KLRC2	3822	broad.mit.edu	37	12	10584777	10584777	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:10584777G>A	ENST00000381902.2	-	5	518	c.512C>T	c.(511-513)tCa>tTa	p.S171L	KLRC2_ENST00000381901.1_Missense_Mutation_p.S171L|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Missense_Mutation_p.S112L	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	171	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACCAATCCATGAGGAAGGTAA	0.299000													11	22					0	0	0.093190	0	0
C20orf27	54976	broad.mit.edu	37	20	3735142	3735142	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:3735142G>A	ENST00000379772.3	-	5	1136	c.326C>T	c.(325-327)tCg>tTg	p.S109L	C20orf27_ENST00000217195.8_Missense_Mutation_p.S134L	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	109										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TTTGTGCGCCGAGTACTCACA	0.642000													6	70					0	0	0.021553	0	0
DHX57	90957	broad.mit.edu	37	2	39042665	39042665	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:39042665C>G	ENST00000295373.6	-	20	3730	c.3604G>C	c.(3604-3606)Gag>Cag	p.E1202Q		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1202							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTCTTTACCTCTTCTCCTGTG	0.428000													51	67					0	0	0.139131	0	0
CKAP5	9793	broad.mit.edu	37	11	46840016	46840016	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:46840016C>T	ENST00000529230.1	-	3	142	c.96G>A	c.(94-96)ctG>ctA	p.L32L	CKAP5_ENST00000354558.3_Silent_p.L32L|CKAP5_ENST00000415402.1_Silent_p.L32L|CKAP5_ENST00000312055.5_Silent_p.L32L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	32					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGAAGATCTTCAGGGCCTCTT	0.328000													38	83					0	0	0.111260	0	0
KDM6A	7403	broad.mit.edu	37	X	44949083	44949083	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:44949083G>C	ENST00000377967.4	+	25	3685	c.3644G>C	c.(3643-3645)gGa>gCa	p.G1215A	KDM6A_ENST00000543216.1_Missense_Mutation_p.G1136A|KDM6A_ENST00000536777.1_Missense_Mutation_p.G1170A|KDM6A_ENST00000382899.4_Missense_Mutation_p.G1222A	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1215	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAGCGACCTGGAGATTTGGTC	0.403000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								19	0					0	0	0.055883	0	0
RYR1	6261	broad.mit.edu	37	19	39076592	39076592	+	Missense_Mutation	SNP	G	G	T	rs118192158		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:39076592G>T	ENST00000355481.4	+	102	14934	c.14803G>T	c.(14803-14805)Gct>Tct	p.A4935S	RYR1_ENST00000359596.3_Missense_Mutation_p.A4940S|RYR1_ENST00000360985.3_Missense_Mutation_p.A4935S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4940					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATCATCGACGCTTTTGGTGA	0.587000													13	23					0.00010058	0.000102908	0.093190	1	0
ADA	100	broad.mit.edu	37	20	43248998	43248998	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:43248998C>G	ENST00000372874.4	-	11	1154	c.1020G>C	c.(1018-1020)aaG>aaC	p.K340N	ADA_ENST00000537820.1_Missense_Mutation_p.K316N|PKIG_ENST00000372887.1_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372882.3_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	340				K -> R (in Ref. 5; BAD97117).	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GAAGCTCCCTCTTTTCATCTT	0.522000									Adenosine Deaminase Deficiency				13	35					0	0	0.105934	0	0
FGD1	2245	broad.mit.edu	37	X	54491999	54491999	+	Silent	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:54491999C>G	ENST00000375135.3	-	8	2254	c.1521G>C	c.(1519-1521)ctG>ctC	p.L507L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	507	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGCAATGTCAGGTTGCCAC	0.592000													10	1					0	0	0.058154	0	0
TRIM21	6737	broad.mit.edu	37	11	4407483	4407483	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:4407483C>G	ENST00000254436.7	-	6	875	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	TRIM21_ENST00000543625.1_Missense_Mutation_p.E255Q	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	255					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTCCAGGACTCACTCCTGGGG	0.493000													6	5					0	0	0.021553	0	0
MAST1	22983	broad.mit.edu	37	19	12984773	12984773	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:12984773G>A	ENST00000251472.4	+	26	3841	c.3802G>A	c.(3802-3804)Gag>Aag	p.E1268K		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1268					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCAGTCGGCCGAGAAGCTGGG	0.677000													7	10					0	0	0.029380	0	0
DENND4C	55667	broad.mit.edu	37	9	19360356	19360356	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr9:19360356C>T	ENST00000380432.2	+	24	4453	c.4420C>T	c.(4420-4422)Cat>Tat	p.H1474Y	DENND4C_ENST00000602925.1_Missense_Mutation_p.H1710Y|DENND4C_ENST00000434457.2_Missense_Mutation_p.H1759Y			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1474						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCAGGTGATTCATACATCTTC	0.418000													71	19					0	0	0.139131	0	0
ALMS1P	200420	broad.mit.edu	37	2	73899538	73899538	+	RNA	SNP	G	G	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:73899538G>T	ENST00000450720.1	+	0	410					NR_003683.2																						TTCTTGGTCAGAAGAAAAACA	0.418000													10	20					2.52707e-12	2.64683e-12	0.058154	1	0
OLFM3	118427	broad.mit.edu	37	1	102269856	102269856	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:102269856C>T	ENST00000370103.4	-	6	1528	c.1315G>A	c.(1315-1317)Ggc>Agc	p.G439S	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.G459S|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	459	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACCTGGTGGCCATTGTTCCAG	0.413000													27	42					0	0	0.108266	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764479	89764479	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:89764479C>T	ENST00000289805.5	-	3	606	c.538G>A	c.(538-540)Gag>Aag	p.E180K	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	180										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCAGCTCCTCAGCTGGCAGC	0.716000													14	18					0	0	0.105934	0	0
ATR	545	broad.mit.edu	37	3	142234275	142234275	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr3:142234275C>G	ENST00000350721.4	-	25	4586	c.4465G>C	c.(4465-4467)Gaa>Caa	p.E1489Q	ATR_ENST00000383101.3_Missense_Mutation_p.E1425Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1489					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTGACCATTCTGCAAAGTTA	0.348000								Other conserved DNA damage response genes					33	32					0	0	0.203993	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337129	162337129	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:162337129G>C	ENST00000493151.1	+	2	2875	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E460Q|NOS1AP_ENST00000361897.5_Missense_Mutation_p.E465Q|RP11-565P22.6_ENST00000431696.1_Intron	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	465	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CATCGCCTCGGAGTACGAGTC	0.672000													3	19					0	0	0.115264	0	0
PAX2	5076	broad.mit.edu	37	10	102509528	102509528	+	Silent	SNP	C	C	T	rs75462234		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:102509528C>T	ENST00000370296.2	+	2	619	c.69C>T	c.(67-69)ctC>ctT	p.L23L	PAX2_ENST00000361791.3_Silent_p.L23L|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Silent_p.L23L|PAX2_ENST00000556085.1_Silent_p.L22L|PAX2_ENST00000355243.3_Silent_p.L23L			Q02962	PAX2_HUMAN	paired box 2	23	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAACCAGCTCGGGGGGGTGT	0.667000													15	18					0	0	0.160694	0	0
MYO1E	4643	broad.mit.edu	37	15	59465948	59465948	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr15:59465948G>C	ENST00000288235.4	-	21	2730	c.2331C>G	c.(2329-2331)ttC>ttG	p.F777L		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	777					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CACGTACCTTGAACCTCCTGT	0.418000													49	32					0	0	0.139131	0	0
NPC1	4864	broad.mit.edu	37	18	21121272	21121272	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:21121272C>G	ENST00000269228.5	-	15	2925	c.2371G>C	c.(2371-2373)Gag>Cag	p.E791Q	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.E473Q	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	791					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			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)					CAACTTACCTCTTGACGTTTA	0.443000													23	32					0	0	0.076483	0	0
UBE2O	63893	broad.mit.edu	37	17	74392341	74392341	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:74392341C>T	ENST00000319380.7	-	14	2741	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	893							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GACTGCCCCTCGGGCTTGTCC	0.612000													42	57					0	0	0.098360	0	0
DGKE	8526	broad.mit.edu	37	17	54933973	54933973	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:54933973G>C	ENST00000284061.3	+	8	1379	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	400					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTTTCTAGCAGAATTCTTAAT	0.358000													11	11					0	0	0.093190	0	0
ARAP3	64411	broad.mit.edu	37	5	141050914	141050914	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr5:141050914G>C	ENST00000239440.4	-	13	1973	c.1908C>G	c.(1906-1908)ctC>ctG	p.L636L	ARAP3_ENST00000513878.1_Silent_p.L298L|ARAP3_ENST00000508305.1_Silent_p.L558L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	636					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CAACACAGAGGAGCTGGGTCA	0.617000													16	13					0	0	0.132662	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795326	100795326	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr14:100795326C>T	ENST00000361529.3	+	5	669	c.591C>T	c.(589-591)ttC>ttT	p.F197F	SLC25A47_ENST00000557052.1_Silent_p.F51F	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	197					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CCACCTACTTCCTTTCCTACG	0.682000													19	10					0	0	0.204396	0	0
CUL7	9820	broad.mit.edu	37	6	43012601	43012601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:43012601C>A	ENST00000535468.1	-	16	3399	c.3313G>T	c.(3313-3315)Gag>Tag	p.E1105*	CUL7_ENST00000265348.3_Nonsense_Mutation_p.E1021*	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1021					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AAATTCTGCTCCTGGCGCAGA	0.582000													30	29					5.91797e-21	6.25775e-21	0.163468	1	0
LAMA3	3909	broad.mit.edu	37	18	21453023	21453023	+	Silent	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr18:21453023G>A	ENST00000269217.6	+	1	220	c.15G>A	c.(13-15)gtG>gtA	p.V5V	LAMA3_ENST00000587184.1_Silent_p.V5V|LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000313654.9_Intron	NM_000227.3	NP_000218.2	Q16787	LAMA3_HUMAN	laminin, alpha 3	0					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCAGCAGTGAGGCGGTCAG	0.627000													26	41					0	0	0.099896	0	0
SPTA1	6708	broad.mit.edu	37	1	158644181	158644181	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:158644181C>T	ENST00000368147.4	-	10	1468	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGTCTCATCAGCAGATTGA	0.413000													54	79					0	0	0.139131	0	0
UBD	10537	broad.mit.edu	37	6	29523823	29523823	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:29523823G>C	ENST00000377050.4	-	2	555	c.332C>G	c.(331-333)tCa>tGa	p.S111*	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	111	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTGTGCCACTGAGCTGGACCT	0.512000													11	55					0	0	0.080935	0	0
STAT1	6772	broad.mit.edu	37	2	191851594	191851594	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:191851594C>T	ENST00000361099.3	-	14	1594	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	STAT1_ENST00000409465.1_Missense_Mutation_p.E403K|STAT1_ENST00000392322.3_Missense_Mutation_p.E403K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.E405K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	403					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGCCGAAATTCAGCCGCCAGA	0.443000													84	119					0	0	0.139131	0	0
MT1G	4495	broad.mit.edu	37	16	56700828	56700828	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:56700828C>A	ENST00000444837.2	-	3	220	c.149G>T	c.(148-150)tGc>tTc	p.C50F	MT1G_ENST00000568675.1_3'UTR|MT1G_ENST00000569500.1_Missense_Mutation_p.C28F|MT1G_ENST00000379811.3_Missense_Mutation_p.C51F	NM_005950.1	NP_005941.1	P13640	MT1G_HUMAN	metallothionein 1G	51	Alpha.						metal ion binding|protein binding			kidney(2)|large_intestine(1)|lung(2)	5						TGCCCCTTTGCAGATGCAGCC	0.567000													4	105					0.150653	0.151683	0.150653	1	0
OSBPL2	9885	broad.mit.edu	37	20	60868937	60868937	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:60868937C>T	ENST00000439951.2	+	13	1460	c.1037C>T	c.(1036-1038)tCt>tTt	p.S346F	OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000313733.3_Silent_p.I479I|OSBPL2_ENST00000358053.2_Silent_p.I467I			Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	0					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GCCCAGATATCTACTGAGGGC	0.602000													9	14					0	0	0.047766	0	0
RNF126	55658	broad.mit.edu	37	19	651705	651705	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:651705G>A	ENST00000292363.5	-	4	504	c.349C>T	c.(349-351)Ccg>Tcg	p.P117S		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	117							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGGGACGGATGGTCTCTC	0.721000													10	9					0	0	0.058154	0	0
TTN	7273	broad.mit.edu	37	2	179403700	179403700	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:179403700C>T	ENST00000589042.1	-	353	99186	c.98962G>A	c.(98962-98964)Gaa>Aaa	p.E32988K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23923K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24048K|TTN_ENST00000342175.6_Missense_Mutation_p.E24115K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30420K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E31347K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31347							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)			ACAACTGGTTCAGAAGCAGGG	0.448000													18	20					0	0	0.175082	0	0
COLGALT2	23127	broad.mit.edu	37	1	183920172	183920172	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:183920172C>G	ENST00000361927.4	-	8	1476	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q	COLGALT2_ENST00000367520.3_Missense_Mutation_p.E106Q|COLGALT2_ENST00000546159.1_Missense_Mutation_p.E369Q	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		ATCTTGACCTCAATCTCCTGT	0.463000													44	217					0	0	0.139131	0	0
RARS2	57038	broad.mit.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672000											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	22	14					0	0	0.083992	0	0
CENPBD1	92806	broad.mit.edu	37	16	90038126	90038126	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr16:90038126G>C	ENST00000314994.3	-	1	816	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	69					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						GTAGCTATTTGTGAACTCGCT	0.502000													3	6					0	0	0.115264	0	0
OPN3	23596	broad.mit.edu	37	1	241767766	241767766	+	Silent	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr1:241767766G>C	ENST00000366554.2	-	2	595	c.489C>G	c.(487-489)ctC>ctG	p.L163L	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	163					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCAGTGAGTAGAGCCAGATGT	0.557000													10	34					0	0	0.058154	0	0
SLC5A1	6523	broad.mit.edu	37	22	32487639	32487639	+	Silent	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr22:32487639C>T	ENST00000266088.4	+	11	1420	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	SLC5A1_ENST00000543737.1_Silent_p.L263L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	390					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TGGCCTCCCTCATGAGCTCCC	0.517000													19	25					0	0	0.069288	0	0
KDM6A	7403	broad.mit.edu	37	X	44948997	44948997	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:44948997G>C	ENST00000377967.4	+	25	3599	c.3558G>C	c.(3556-3558)ttG>ttC	p.L1186F	KDM6A_ENST00000543216.1_Missense_Mutation_p.L1107F|KDM6A_ENST00000536777.1_Missense_Mutation_p.L1141F|KDM6A_ENST00000382899.4_Missense_Mutation_p.L1193F	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1186	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAATAATTTGAATTTCCTAA	0.328000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								9	0					0	0	0.047766	0	0
PANX1	24145	broad.mit.edu	37	11	93886740	93886740	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr11:93886740C>G	ENST00000227638.3	+	2	650	c.265C>G	c.(265-267)Cag>Gag	p.Q89E	PANX1_ENST00000436171.2_Missense_Mutation_p.Q89E	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	89					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGCGGCTGTTCAGCAGAAGAA	0.463000													26	30					0	0	0.099896	0	0
PAK3	5063	broad.mit.edu	37	X	110391027	110391027	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chrX:110391027G>C	ENST00000372007.5	+	7	730	c.339G>C	c.(337-339)aaG>aaC	p.K113N	PAK3_ENST00000262836.4_Missense_Mutation_p.K128N|PAK3_ENST00000519681.1_Missense_Mutation_p.K134N|PAK3_ENST00000425146.1_Missense_Mutation_p.K113N|PAK3_ENST00000446737.1_Missense_Mutation_p.K113N|PAK3_ENST00000518291.1_Missense_Mutation_p.K149N|PAK3_ENST00000372010.1_Missense_Mutation_p.K128N|PAK3_ENST00000417227.1_Missense_Mutation_p.K134N|PAK3_ENST00000360648.4_Missense_Mutation_p.K149N	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TGGAACAGAAGAAGAACCCAC	0.408000										TSP Lung(19;0.15)			22	20					0	0	0.069288	0	0
TANC2	26115	broad.mit.edu	37	17	61432412	61432412	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:61432412C>G	ENST00000424789.2	+	12	2025	c.2021C>G	c.(2020-2022)tCt>tGt	p.S674C	TANC2_ENST00000389520.4_Missense_Mutation_p.S674C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	674							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTAAAGAGCTCTAGCTACAAA	0.428000													43	46					0	0	0.104719	0	0
MCMBP	79892	broad.mit.edu	37	10	121600424	121600424	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:121600424C>G	ENST00000360003.3	-	11	1348	c.1179G>C	c.(1177-1179)ttG>ttC	p.L393F	MCMBP_ENST00000369077.3_Missense_Mutation_p.L391F|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	393					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GGCAACCACTCAAGTTAACTG	0.338000													11	16					0	0	0.080935	0	0
ZNF587	84914	broad.mit.edu	37	19	58370723	58370723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr19:58370723C>T	ENST00000339656.5	+	3	1125	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q272*|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q314*	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TATTAGCCATCAGCTTGTTCA	0.473000													53	67					0	0	0.139131	0	0
SRMS	6725	broad.mit.edu	37	20	62172233	62172233	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr20:62172233C>T	ENST00000217188.1	-	8	1445	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	469	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GAGGGCCGTTCCTCGGGGCTG	0.692000													54	38					0	0	0.139131	0	0
RTKN	6242	broad.mit.edu	37	2	74655512	74655513	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr2:74655512_74655513insT	ENST00000305557.5	-	10	1514_1515	c.929_930insA	c.(928-930)gagfs	p.E310fs	RTKN_ENST00000272430.5_Frame_Shift_Ins_p.E323fs|RTKN_ENST00000233330.6_Frame_Shift_Ins_p.E273fs	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	323	PH.				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGTTCTGCATCTCCCCAGCTTG	0.535													23	39	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187525004	187525008	+	Frame_Shift_Del	DEL	TATTC	TATTC	-			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr4:187525004_187525008delTATTC	ENST00000441802.2	-	19	10881_10885	c.10672_10676delGAATA	c.(10672-10677)gaatacfs	p.EY3558fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3558	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCACCTGAGTATTCTTCTCCAGAA	0.468										HNSCC(5;0.00058)			12	8	---	---	---	---					
LINC00518	221718	broad.mit.edu	37	6	10430699	10430701	+	RNA	DEL	TTT	TTT	-	rs79230388		TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr6:10430699_10430701delTTT	ENST00000496285.1	-	0	489					NR_027793.1																						CTCTGACTAGttttttttttttt	0.448													3	3	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100371476	100371477	+	RNA	INS	-	-	G	rs148800656	by1000genomes	TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr7:100371476_100371477insG	ENST00000542585.1	+	0	5914				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTCCGTTTCGGGCCTCAG	0.624													5	9	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7191583	7191584	+	RNA	DEL	AC	AC	-			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr8:7191583_7191584delAC	ENST00000606573.1	-	0	703																											acgcacgcaaacacacacacac	0.510													3	5	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													8	76	---	---	---	---					
RP11-1028N23.4	0	broad.mit.edu	37	12	116030327	116030327	+	RNA	DEL	T	T	-			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr12:116030327delT	ENST00000551940.1	-	0	343																											ctccattttcTTTTTTTTTTT	0.473													2	4	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93499758	93499761	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr15:93499758_93499761delTCTT	ENST00000394196.4	+	16	2947_2950	c.1879_1882delTCTT	c.(1879-1884)tctttafs	p.SL627fs	CHD2_ENST00000557381.1_Frame_Shift_Del_p.SL627fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	627	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAATGATGACTCTTTATTGTATAA	0.456													13	55	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													4	8	---	---	---	---					
PPP6R2	9701	broad.mit.edu	37	22	50882376	50882377	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A6ZA-01A-12D-A339-08	TCGA-GV-A6ZA-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b9dfbd-3108-475c-a323-d7b605c9a365	0a3477ea-668a-47b7-a37a-e8bb91eda271	g.chr22:50882376_50882377insC	ENST00000359139.3	+	22	2977_2978	c.2583_2584insC	c.(2584-2586)cccfs	p.P862fs	PPP6R2_ENST00000395744.3_Frame_Shift_Ins_p.P861fs|PPP6R2_ENST00000395741.3_Frame_Shift_Ins_p.P862fs|PPP6R2_ENST00000216061.5_Frame_Shift_Ins_p.P895fs	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	895						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCGTGGCTGTGCCCCCCGAGGC	0.668													6	6	---	---	---	---