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
ACTR3C	653857	broad.mit.edu	37	7	149981866	149981866	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:149981866G>A	ENST00000539352.1	-	6	791	c.540C>T	c.(538-540)atC>atT	p.I180I	ACTR3C_ENST00000252071.4_Silent_p.I180I	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	180					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										GCCGCACATCGATGGGGCAGT	0.398000													4	20					0	0	1	0	0
STX10	8677	broad.mit.edu	37	19	13260628	13260628	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:13260628C>A	ENST00000589083.1	-	2	171	c.119G>T	c.(118-120)cGc>cTc	p.R40L	STX10_ENST00000242770.5_Missense_Mutation_p.R40L|STX10_ENST00000587230.1_Missense_Mutation_p.R40L|STX10_ENST00000343587.5_Missense_Mutation_p.R40L	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	syntaxin 10	40					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CAGCTCCTCGCGTCCGACCGC	0.672000											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	18					0.0381472	0.0384894	1	1	0
TAF6	6878	broad.mit.edu	37	7	99705619	99705619	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:99705619G>A	ENST00000344095.4	-	14	2111	c.1586C>T	c.(1585-1587)cCa>cTa	p.P529L	TAF6_ENST00000452041.1_Missense_Mutation_p.P529L|TAF6_ENST00000453269.2_Missense_Mutation_p.P529L|TAF6_ENST00000418432.2_Missense_Mutation_p.P453L|TAF6_ENST00000472509.1_Missense_Mutation_p.P586L|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000437822.2_Missense_Mutation_p.P566L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	529					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAAGGCTGTGGTGGGGCAGC	0.617000													6	20					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64540963	64540963	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:64540963C>G	ENST00000377390.3	-	3	512	c.175G>C	c.(175-177)Gaa>Caa	p.E59Q	SF1_ENST00000334944.5_Missense_Mutation_p.E59Q|SF1_ENST00000433274.2_Missense_Mutation_p.E33Q|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Missense_Mutation_p.E184Q|SF1_ENST00000377394.3_Missense_Mutation_p.E59Q|SF1_ENST00000227503.9_Missense_Mutation_p.E59Q	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	59					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GTCAGGTCTTCTATCTGCAGT	0.438000													13	22					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74422193	74422193	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr14:74422193G>C	ENST00000334571.2	+	3	378	c.338G>C	c.(337-339)aGa>aCa	p.R113T	COQ6_ENST00000238709.4_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.R88T|COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000554920.1_Missense_Mutation_p.R113T	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	113					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ATGAGATACAGAGCCTTTCGG	0.463000													17	25					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108128285	108128285	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:108128285T>C	ENST00000228437.5	-	12	2567	c.2108A>G	c.(2107-2109)aAg>aGg	p.K703R		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	703					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CTTGGGACACTTGATCTGGCG	0.383000													96	168					0	0	1	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	100					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122614580	122614580	+	Silent	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:122614580C>T	ENST00000319080.7	+	6	963	c.831C>T	c.(829-831)ctC>ctT	p.L277L				Q9HAP2	MLXIP_HUMAN	MLX interacting protein		Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAGACATGCTCATGTCGGAAT	0.572000													4	44					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186136070	186136070	+	Silent	SNP	T	T	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:186136070T>C	ENST00000271588.4	+	100	15799	c.15570T>C	c.(15568-15570)tgT>tgC	p.C5190C	HMCN1_ENST00000367492.2_Silent_p.C5190C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5190	EGF-like 2; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCTGAGTTGTCAAGGTATAA	0.453000													29	74					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724205	140724205	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr5:140724205G>T	ENST00000253812.6	+	1	605	c.605G>T	c.(604-606)cGt>cTt	p.R202L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.R202H(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGTGAGAAAAAA	0.537000													20	32					3.51602e-12	3.73162e-12	1	1	0
KIRREL	55243	broad.mit.edu	37	1	158047906	158047906	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:158047906C>T	ENST00000368173.3	+	3	732	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	KIRREL_ENST00000392272.2_Missense_Mutation_p.R110W|KIRREL_ENST00000359209.6_Missense_Mutation_p.R110W|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Missense_Mutation_p.R49W	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	110	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTGCGCTCTCGGCGGGCCAA	0.607000													26	86					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197526	44197526	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:44197526G>A	ENST00000393841.1	+	5	803	c.312G>A	c.(310-312)caG>caA	p.Q104Q	SLC29A1_ENST00000371713.1_Silent_p.Q104Q|SLC29A1_ENST00000371731.1_Silent_p.Q104Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000393844.1_Silent_p.Q104Q|SLC29A1_ENST00000371740.5_Silent_p.Q104Q|SLC29A1_ENST00000313248.7_Silent_p.Q183Q|SLC29A1_ENST00000371755.3_Silent_p.Q104Q|SLC29A1_ENST00000371724.1_Silent_p.Q104Q|SLC29A1_ENST00000371708.1_Silent_p.Q104Q|SLC29A1_ENST00000427851.2_Silent_p.Q104Q	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	104					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TCCTGCATCAGAGGTGAGTGC	0.597000													11	27					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9000768	9000768	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:9000768T>C	ENST00000305997.3	-	12	1510	c.1312A>G	c.(1312-1314)Ata>Gta	p.I438V		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	438					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATGGTTTTATAGAAAGAAGC	0.323000													13	53					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433394	49433394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:49433394G>A	ENST00000301067.7	-	32	8052	c.8053C>T	c.(8053-8055)Cga>Tga	p.R2685*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R2415*(2)|p.R2685*(2)									TCTCGTAGTCGCTGGCGCTAT	0.572000													3	9					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													6	62					0	0	1	0	0
C2orf76	130355	broad.mit.edu	37	2	120097412	120097412	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:120097412G>A	ENST00000409466.2	-	3	645	c.124C>T	c.(124-126)Cta>Tta	p.L42L	C2orf76_ENST00000409523.1_Silent_p.L42L|C2orf76_ENST00000409877.1_Silent_p.L42L|C2orf76_ENST00000498049.1_5'UTR|C2orf76_ENST00000334816.7_Silent_p.L42L			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	42										large_intestine(1)|lung(3)|pancreas(1)	5						CCTTGCTTTAGAAATACGATA	0.333000													10	46					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529629	57529629	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:57529629G>A	ENST00000420713.1	+	4	1574	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TATGCATACTGGAGAGAAACC	0.348000													3	19					0	0	1	0	0
CDCA3	83461	broad.mit.edu	37	12	6958797	6958797	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:6958797G>T	ENST00000422785.3	-	4	580	c.476C>A	c.(475-477)aCa>aAa	p.T159K	CDCA3_ENST00000229265.6_Missense_Mutation_p.T134K|CDCA3_ENST00000540683.1_Missense_Mutation_p.T159K|CDCA3_ENST00000535406.1_Missense_Mutation_p.T159K|CDCA3_ENST00000538862.2_Missense_Mutation_p.T159K			Q99618	CDCA3_HUMAN	cell division cycle associated 3	159					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						AGGGGTTTCTGTGGGCTGTCT	0.537000													80	54					1.43161e-34	1.57128e-34	1	1	0
PREX1	57580	broad.mit.edu	37	20	47267544	47267544	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr20:47267544C>T	ENST00000396220.1	-	23	2727	c.2705G>A	c.(2704-2706)aGg>aAg	p.R902K	PREX1_ENST00000371941.3_Missense_Mutation_p.R902K			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	902					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CATGAGCCGCCTGCAGTTCTC	0.562000													20	72					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2678483	2678483	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:2678483G>A	ENST00000274643.7	-	10	1353	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	MYLK4_ENST00000268446.5_Silent_p.F337F	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	337	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				GCTTAGAGATGAACTCCTTGG	0.532000													29	109					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776757	77776757	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr8:77776757G>C	ENST00000521891.2	+	11	11255	c.10807G>C	c.(10807-10809)Gat>Cat	p.D3603H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3554H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3577H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3558H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3554						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCTGGCCTAGATGGTAATTT	0.373000										HNSCC(33;0.089)			7	18					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35229738	35229738	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:35229738C>G	ENST00000428726.2	+	12	1624	c.1501C>G	c.(1501-1503)Ctt>Gtt	p.L501V	CD44_ENST00000415148.2_Missense_Mutation_p.L458V|CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Missense_Mutation_p.L252V|CD44_ENST00000263398.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.L501V|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.L458V|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Missense_Mutation_p.L252V|CD44_ENST00000433354.2_Missense_Mutation_p.L502V|CD44_ENST00000352818.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	501	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GACAGGACCTCTTTCAATGAC	0.433000													22	62					0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155094081	155094081	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:155094081C>G	ENST00000340368.4	+	4	869	c.658C>G	c.(658-660)Cta>Gta	p.L220V	INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Missense_Mutation_p.L68V	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	220					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.L220V(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATAGCTTTTCTAGCTACGCT	0.438000													9	55					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039397	11039397	+	RNA	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr21:11039397C>T	ENST00000470054.1	-	0	806									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATCAGCCTCATTAGAAATC	0.303000													14	162					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55441913	55441913	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:55441913G>A	ENST00000588756.1	-	11	3250	c.2764C>T	c.(2764-2766)Ctc>Ttc	p.L922F	NLRP7_ENST00000340844.2_Missense_Mutation_p.L922F|NLRP7_ENST00000328092.5_Missense_Mutation_p.L894F|NLRP7_ENST00000448121.2_Missense_Mutation_p.L894F|NLRP7_ENST00000590030.1_Missense_Mutation_p.L922F|NLRP7_ENST00000446217.1_Missense_Mutation_p.L950F|NLRP7_ENST00000592784.1_Missense_Mutation_p.L922F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	922							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCTGACAGAGAATCCACAAT	0.448000													57	139					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	19					6.4e-05	6.54545e-05	1	1	0
ANKDD1A	348094	broad.mit.edu	37	15	65208072	65208072	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr15:65208072G>A	ENST00000380230.3	+	2	140	c.111G>A	c.(109-111)agG>agA	p.R37R	ANKDD1A_ENST00000496660.1_Intron|ANKDD1A_ENST00000395720.1_Silent_p.R37R|ANKDD1A_ENST00000319580.8_Intron|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000357698.3_Silent_p.R37R|ANKDD1A_ENST00000491145.1_3'UTR	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	37					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGATTGGGAGGAGGGTTAACA	0.572000													3	27					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103898488	103898488	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr10:103898488C>T	ENST00000278070.2	+	3	494	c.455C>T	c.(454-456)tCg>tTg	p.S152L	PPRC1_ENST00000413464.2_Missense_Mutation_p.S152L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATTCCTGATTCGGAGCTGCTT	0.532000													13	57					0	0	1	0	0
RNF182	221687	broad.mit.edu	37	6	13977520	13977520	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:13977520C>T	ENST00000488300.1	+	3	693	c.170C>T	c.(169-171)tCc>tTc	p.S57F	RNF182_ENST00000537663.1_Missense_Mutation_p.S57F|RNF182_ENST00000544682.1_Missense_Mutation_p.S57F|RNF182_ENST00000537388.1_Missense_Mutation_p.S57F	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	57						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TTTGGGGACTCCCCACAAGGT	0.463000													13	73					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256478	34256478	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr9:34256478C>G	ENST00000379166.2	-	11	3246	c.3127G>C	c.(3127-3129)Gaa>Caa	p.E1043Q	KIF24_ENST00000345050.2_Missense_Mutation_p.E909Q|KIF24_ENST00000379174.3_Missense_Mutation_p.E909Q|KIF24_ENST00000402558.2_Missense_Mutation_p.E1043Q	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1043					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GAAGCATATTCAGCATGCGTG	0.582000													29	25					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017327	200017327	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:200017327G>A	ENST00000367362.3	+	5	737	c.491G>A	c.(490-492)gGa>gAa	p.G164E	NR5A2_ENST00000544748.1_Missense_Mutation_p.G92E|NR5A2_ENST00000236914.3_Missense_Mutation_p.G118E	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	164					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ATGCGTGGAGGAAGGAATAAG	0.483000													11	64					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135797295	135797295	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr9:135797295A>G	ENST00000298552.3	-	7	795	c.574T>C	c.(574-576)Tat>Cat	p.Y192H	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.Y192H|TSC1_ENST00000545250.1_Missense_Mutation_p.Y141H|TSC1_ENST00000403810.1_Missense_Mutation_p.Y192H	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	192					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TACATTCCATAAAGGCGATGA	0.448000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				32	33					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67703780	67703780	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:67703780G>C	ENST00000545606.1	+	12	3562	c.3125G>C	c.(3124-3126)aGg>aCg	p.R1042T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1042					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCATTAATAAGGGATCTATTG	0.358000													13	63					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493000													4	92					0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140080134	140080134	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:140080134G>A	ENST00000326232.9	-	3	349	c.146C>T	c.(145-147)tCt>tTt	p.S49F	SLC37A3_ENST00000447932.2_Missense_Mutation_p.S49F|SLC37A3_ENST00000429996.2_Missense_Mutation_p.S49F|SLC37A3_ENST00000461089.1_Intron|SLC37A3_ENST00000340308.3_Missense_Mutation_p.S49F	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	49					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CCACTGCTCAGAGATACTGAC	0.443000													9	28					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372750	74372750	+	RNA	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:74372750G>C	ENST00000429810.2	-	0	1446																											CTGCCTACCGGTCTGGAAGTC	0.498000													12	61					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710947	140710947	+	Silent	SNP	G	G	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr5:140710947G>T	ENST00000517417.1	+	1	696	c.696G>T	c.(694-696)gtG>gtT	p.V232V	PCDHGA1_ENST00000378105.3_Silent_p.V232V	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATTCAGGTGGTGGATGCAA	0.493000													10	32					1.58986e-06	1.66381e-06	1	1	0
TSR1	55720	broad.mit.edu	37	17	2239710	2239710	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:2239710G>C	ENST00000301364.5	-	1	1091	c.12C>G	c.(10-12)caC>caG	p.H4Q	TSR1_ENST00000576112.2_Missense_Mutation_p.H4Q	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)						ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGCCGGGGCGGTGGGCCGCCA	0.677000													46	65					0	0	1	0	0
MAPRE2	10982	broad.mit.edu	37	18	32682099	32682099	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr18:32682099C>T	ENST00000436190.2	+	5	824	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	MAPRE2_ENST00000300249.5_Missense_Mutation_p.H196Y|MAPRE2_ENST00000538170.2_Missense_Mutation_p.H143Y|MAPRE2_ENST00000589699.1_Missense_Mutation_p.H153Y|MAPRE2_ENST00000413393.1_Missense_Mutation_p.H153Y|MAPRE2_ENST00000588910.1_Missense_Mutation_p.H196Y	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	196					cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						AAAAAAGTCTCACCATGCAAA	0.478000													15	19					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005842	187005842	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr4:187005842C>A	ENST00000296795.3	+	5	2634	c.2530C>A	c.(2530-2532)Ctg>Atg	p.L844M	TLR3_ENST00000504367.1_Missense_Mutation_p.L567M	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3		TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGAACAAAATCTGGATTCCAT	0.333000													20	41					1.55795e-14	1.67721e-14	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42048050	42048050	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:42048050C>T	ENST00000372584.1	-	3	3433	c.2419G>A	c.(2419-2421)Gag>Aag	p.E807K	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E807K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E807K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E807K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	807	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCAGATTTCTCAAAGGAGCTG	0.567000													11	40					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289395	160289395	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:160289395G>C	ENST00000392783.2	-	9	2268	c.1773C>G	c.(1771-1773)ttC>ttG	p.F591L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.F589L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.F589L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.F591L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTGTTCCTCTGAATTGTTCCA	0.388000													18	106					0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190167578	190167578	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr3:190167578G>C	ENST00000354905.2	-	1	87	c.21C>G	c.(19-21)ttC>ttG	p.F7L		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	7						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGGTGACACTGAAAAGTCTGG	0.418000													21	24					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205022373	205022373	+	Silent	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:205022373C>G	ENST00000331830.4	+	2	344	c.60C>G	c.(58-60)gtC>gtG	p.V20V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	20					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGCCCTTGTCTCCTCTTCAG	0.537000													22	44					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74519764	74519764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:74519764G>A	ENST00000422840.2	-	9	1500	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.R501*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.R490*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	501						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCAAAGCTCGATCAATGCGG	0.388000													88	64					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704736	41704736	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:41704736G>A	ENST00000310054.4	+	5	993	c.777G>A	c.(775-777)ctG>ctA	p.L259L	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	259					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						AGGGGAACCTGGATGCTTCGG	0.652000													19	36					0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104871090	104871090	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:104871090C>T	ENST00000393141.2	-	6	920	c.889G>A	c.(889-891)Gat>Aat	p.D297N	CASP5_ENST00000260315.3_Missense_Mutation_p.D284N|CASP5_ENST00000531367.1_Missense_Mutation_p.D142N|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Missense_Mutation_p.D142N|CASP5_ENST00000444749.2_Missense_Mutation_p.D226N|CASP5_ENST00000526056.1_Missense_Mutation_p.D297N	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	284					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AGCAGCACATCCGGTTTTTTC	0.488000													38	64					0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20927799	20927799	+	Silent	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr14:20927799C>T	ENST00000250489.4	-	4	820	c.534G>A	c.(532-534)aaG>aaA	p.K178K	TMEM55B_ENST00000554028.1_Silent_p.K11K|TMEM55B_ENST00000398020.4_Silent_p.K185K			Q86T03	TM55B_HUMAN	transmembrane protein 55B	178						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GAAAAGTATTCTTGCAATGTC	0.478000													13	54					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133780796	133780796	+	Silent	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr9:133780796G>C	ENST00000372338.4	-	6	1193	c.951C>G	c.(949-951)ctC>ctG	p.L317L	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Silent_p.L317L|FIBCD1_ENST00000372337.2_Silent_p.L159L	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	317	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGATCCTCTTGAGCCCTGAAG	0.587000													3	5					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128263003	128263003	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:128263003G>A	ENST00000295321.4	-	3	735	c.476C>T	c.(475-477)tCt>tTt	p.S159F	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.S166F|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	159	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCAATCTCAGAATCACTGGC	0.463000													45	101					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11833358	11833358	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:11833358C>T	ENST00000262442.4	+	63	12121	c.12053C>T	c.(12052-12054)cCc>cTc	p.P4018L	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000608377.1_Missense_Mutation_p.P330L|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCAATGAGCCCCCCACGGGC	0.597000													4	13					0	0	1	0	0
MEX3D	399664	broad.mit.edu	37	19	1556581	1556581	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:1556581C>T	ENST00000402693.4	-	2	936	c.937G>A	c.(937-939)Gac>Aac	p.D313N	MEX3D_ENST00000388824.6_Missense_Mutation_p.D313N	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	313	KH 2.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCCTTGTCGCGCCCGGGC	0.701000													9	20					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152190966	152190966	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:152190966A>T	ENST00000368801.2	-	3	3214	c.3139T>A	c.(3139-3141)Tct>Act	p.S1047T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1047					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCCAGAAGAGTGACCGGAG	0.572000													5	226					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440302	99440302	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr8:99440302C>T	ENST00000287042.4	+	2	445	c.95C>T	c.(94-96)tCg>tTg	p.S32L	KCNS2_ENST00000521839.1_Missense_Mutation_p.S32L	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	32						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGGCTGCGCTCGCACACGCTG	0.662000													5	19					0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38373954	38373954	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr8:38373954G>A	ENST00000358138.1	-	2	416	c.392C>T	c.(391-393)tCt>tTt	p.S131F	C8orf86_ENST00000437935.2_Intron	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	131										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GGAAGAATGAGAGATCACTGT	0.408000													22	129					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828646	59828646	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:59828646G>A	ENST00000278865.3	+	2	86	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	MS4A3_ENST00000358152.2_Missense_Mutation_p.E5K|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Missense_Mutation_p.E5K|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	5						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGCCTCCCACGAAGTTGATAA	0.483000													12	45					0	0	1	0	0
KHK	3795	broad.mit.edu	37	2	27317761	27317761	+	Silent	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:27317761C>T	ENST00000260598.5	+	3	781	c.303C>T	c.(301-303)atC>atT	p.I101I	KHK_ENST00000260599.6_Intron|KHK_ENST00000490823.1_Intron	NM_006488.2	NP_006479.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	101					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCATCATCAACAACTCCA	0.617000													7	20					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31038924	31038924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:31038924C>T	ENST00000355537.3	+	4	2545	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCACTTAGAGCGACACCATCG	0.502000													26	62					0	0	1	0	0
DPM1	8813	broad.mit.edu	37	20	49574904	49574904	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr20:49574904C>G	ENST00000371582.4	-	1	188	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	DPM1_ENST00000371588.5_Missense_Mutation_p.E53Q|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Missense_Mutation_p.E53Q			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	53					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CGCTACCTCTCGGAGAAGCTT	0.617000													11	39					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22925812	22925812	+	Silent	SNP	G	G	A	rs34148834	byFrequency	TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr15:22925812G>A	ENST00000313077.7	+	2	155	c.30G>A	c.(28-30)gcG>gcA	p.A10A	CYFIP1_ENST00000560848.1_Silent_p.A10A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	10					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGAGGACGCGCTGTCCAACG	0.652000													9	37					0	0	1	0	0
SMARCD1	6602	broad.mit.edu	37	12	50492581	50492581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:50492581C>T	ENST00000394963.4	+	12	1875	c.1477C>T	c.(1477-1479)Cga>Tga	p.R493*	SMARCD1_ENST00000381513.4_Nonsense_Mutation_p.R452*|SMARCD1_ENST00000548573.1_Nonsense_Mutation_p.R291*	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	493	Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	p.R454*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GGCTGTGTGCCGATACTTCTA	0.547000													10	37					0	0	1	0	0
YPEL3	83719	broad.mit.edu	37	16	30106200	30106200	+	Silent	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:30106200C>T	ENST00000562641.1	-	3	823	c.294G>A	c.(292-294)ggG>ggA	p.G98G	YPEL3_ENST00000566595.1_Silent_p.G60G|YPEL3_ENST00000563788.1_Silent_p.G60G|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000566134.1_Intron|YPEL3_ENST00000398838.4_Silent_p.G60G|YPEL3_ENST00000398841.1_Silent_p.G98G			P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	60						nucleolus				endometrium(1)|lung(2)	3						CCTCGGCTGGCCCGCAGCCCA	0.632000													3	59					0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103190166	103190166	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr10:103190166G>A	ENST00000370187.3	+	2	231	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.R23Q	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	38					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCTTCGCTGCGATGCCTGTAT	0.532000													15	35					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846908	123846908	+	Silent	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr10:123846908G>C	ENST00000369005.1	+	4	5233	c.4893G>C	c.(4891-4893)acG>acC	p.T1631T	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.T1631T|TACC2_ENST00000515603.1_Silent_p.T1631T|TACC2_ENST00000515273.1_Silent_p.T1631T|TACC2_ENST00000453444.2_Silent_p.T1631T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1631						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAAGGTCCACGTGTGCCCCTT	0.592000													11	33					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154278781	154278781	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr5:154278781C>G	ENST00000285873.7	-	22	3179	c.3104G>C	c.(3103-3105)aGa>aCa	p.R1035T		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1035					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGGCCATCTCTTTCTAGGAC	0.557000													19	71					0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512939	68512939	+	Silent	SNP	C	C	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:68512939C>A	ENST00000370981.1	-	4	678	c.42G>T	c.(40-42)ctG>ctT	p.L14L	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.L14L|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	14					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCAACCGCTTCAGCAGCTTCT	0.597000													7	13					8.12818e-05	8.2753e-05	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73678881	73678881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:73678881C>T	ENST00000264448.6	+	8	5335	c.5224C>T	c.(5224-5226)Caa>Taa	p.Q1742*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q1742*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q1700*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1742	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.Q1742*(1)		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						AGCTGTTCCTCAACCAGCTGA	0.428000													25	111					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918298	15918298	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:15918298G>A	ENST00000334920.2	-	1	638	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AACTTCAACAGAGGTGGCACA	0.572000													32	67					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461589	11461589	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:11461589A>G	ENST00000279575.1	-	3	361	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PRB4_ENST00000445719.2_Missense_Mutation_p.S110P|PRB4_ENST00000535904.1_Missense_Mutation_p.S110P	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	152	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTACCTTGGGACTGGTTTCCT	0.602000										HNSCC(22;0.051)			7	246					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242170	126242170	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr4:126242170T>G	ENST00000394329.3	+	1	4617	c.4604T>G	c.(4603-4605)cTt>cGt	p.L1535R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1535	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAAACGCCCTTGCTGCAGAC	0.438000													28	115					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376606	113376606	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr3:113376606G>C	ENST00000316407.4	-	7	4333	c.3923C>G	c.(3922-3924)cCa>cGa	p.P1308R	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1308R	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1308					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTGTGAATTTGGTATGGTACT	0.443000													12	89					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2140152	2140152	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:2140152G>C	ENST00000262304.4	-	46	12696	c.12488C>G	c.(12487-12489)tCt>tGt	p.S4163C	PKD1_ENST00000423118.1_Missense_Mutation_p.S4162C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4163					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGAGGAGCGAGAGGGCAGCGG	0.697000													12	33					0	0	1	0	0
NUDT16	131870	broad.mit.edu	37	3	131100998	131100998	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr3:131100998G>A	ENST00000359850.3	+	2	287	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	NUDT16_ENST00000521288.1_Missense_Mutation_p.E83K|NUDT16_ENST00000502852.1_Missense_Mutation_p.E83K|NUDT16_ENST00000537561.1_Missense_Mutation_p.E37K	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	83	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						GGAGCTGGGCGAAGCGGCTGC	0.677000													10	29					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171482214	171482214	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:171482214C>G	ENST00000367742.3	+	3	435	c.193C>G	c.(193-195)Ctt>Gtt	p.L65V	PRRC2C_ENST00000338920.4_Missense_Mutation_p.L63V|PRRC2C_ENST00000426496.2_Missense_Mutation_p.L63V|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Missense_Mutation_p.L65V			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	63							protein C-terminus binding										CCTCCCAAGTCTTAAAGCAGA	0.418000													11	30					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101520629	101520629	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr3:101520629G>A	ENST00000422132.1	+	2	841	c.644G>A	c.(643-645)cGt>cAt	p.R215H	NXPE3_ENST00000491511.2_Missense_Mutation_p.R215H|NXPE3_ENST00000273347.5_Missense_Mutation_p.R215H|NXPE3_ENST00000477909.1_Missense_Mutation_p.R215H					neurexophilin and PC-esterase domain family, member 3																		AGTCTCTTCCGTTCAGGAAGA	0.483000													27	51					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74422544	74422544	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr14:74422544G>C	ENST00000334571.2	+	4	434	c.394G>C	c.(394-396)Gat>Cat	p.D132H	COQ6_ENST00000238709.4_Missense_Mutation_p.D57H|COQ6_ENST00000394026.4_Missense_Mutation_p.D107H|COQ6_ENST00000555552.1_3'UTR|COQ6_ENST00000554920.1_Missense_Mutation_p.D132H	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	132					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GATAATGTTTGATAAGGATAA	0.458000													47	56					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179543552	179543552	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:179543552C>T	ENST00000589042.1	-	143	33972	c.33748G>A	c.(33748-33750)Gaa>Aaa	p.E11250K	TTN_ENST00000342992.6_Missense_Mutation_p.E10006K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E10933K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10933	Glu-rich.|Pro-rich.						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)			TTGGGCACTTCAGGAACTTCA	0.423000													16	34					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71410828	71410828	+	Silent	SNP	G	G	A	rs148179574		TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:71410828G>A	ENST00000392650.3	-	18	2439	c.2439C>T	c.(2437-2439)aaC>aaT	p.N813N	SDK2_ENST00000388726.3_Silent_p.N813N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	813	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCTGGGGGCGTTCCAGGTGA	0.602000													22	44					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57545626	57545626	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr15:57545626G>C	ENST00000267811.5	+	15	1659	c.1355G>C	c.(1354-1356)gGa>gCa	p.G452A	TCF12_ENST00000452095.2_Missense_Mutation_p.G472A|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000559703.1_Missense_Mutation_p.G110A|TCF12_ENST00000438423.2_Missense_Mutation_p.G476A|TCF12_ENST00000559710.1_Missense_Mutation_p.G86A|TCF12_ENST00000557843.1_Missense_Mutation_p.G452A|TCF12_ENST00000343827.3_Missense_Mutation_p.G282A|TCF12_ENST00000543579.1_Missense_Mutation_p.G306A|TCF12_ENST00000537840.1_Missense_Mutation_p.G216A|TCF12_ENST00000333725.5_Missense_Mutation_p.G476A	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	452					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCAAACTATGGAGGATCAAGC	0.413000			T	TEC	extraskeletal myxoid chondrosarcoma								17	47					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75168777	75168777	+	Silent	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:75168777C>T	ENST00000336898.3	-	5	1113	c.276G>A	c.(274-276)gtG>gtA	p.V92V	GDPD5_ENST00000529721.1_Silent_p.V92V|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000443276.2_Silent_p.V92V|GDPD5_ENST00000533784.1_Intron	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	92					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CAGCTGTGGTCACAAGGATGG	0.637000													3	29					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33381015	33381015	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:33381015G>C	ENST00000374516.3	+	5	651	c.380G>C	c.(379-381)gGa>gCa	p.G127A	PHF1_ENST00000374512.3_Missense_Mutation_p.G127A	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	127					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCAGCCCCTGGAGAGGGAGAG	0.552000													6	38					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125526490	125526490	+	Splice_Site	SNP	G	G	A	rs143241838		TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr10:125526490G>A	ENST00000241305.3	-	10	1632	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	493					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTGACTCACCGTGGCATTTTC	0.463000													14	38					0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111213777	111213777	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr13:111213777G>T	ENST00000267328.3	-	1	303	c.90C>A	c.(88-90)ttC>ttA	p.F30L		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	30					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCGTGTCCGGGAAGCGCCGCT	0.637000													7	17					2.0095e-06	2.09323e-06	1	1	0
AARS	16	broad.mit.edu	37	16	70316654	70316654	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:70316654G>C	ENST00000261772.8	-	2	156	c.13C>G	c.(13-15)Cta>Gta	p.L5V		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	5					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CTTGCTGTTAGAGTAGAGTCC	0.398000													29	183					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226026400	226026400	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:226026400C>T	ENST00000366837.4	+	4	606	c.410C>T	c.(409-411)gCa>gTa	p.A137V	EPHX1_ENST00000272167.5_Missense_Mutation_p.A137V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	137					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CAGCTGCCCGCAGGCCATACC	0.602000													11	112					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20944709	20944709	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr14:20944709G>C	ENST00000361505.5	+	6	965	c.819G>C	c.(817-819)caG>caC	p.Q273H	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	273					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	AATTGGAACAGTTTGTCTCCA	0.488000													9	39					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578239	7578239	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:7578239C>A	ENST00000420246.2	-	6	742	c.610G>T	c.(610-612)Gag>Tag	p.E204*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E204*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	204	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCAAATACTCCACACGCAAA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	21					0.0215528	0.021844	1	1	0
ZNF788	388507	broad.mit.edu	37	19	12221212	12221212	+	Translation_Start_Site	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:12221212G>A	ENST00000339302.4	+	0	301				ZNF788_ENST00000596883.1_Silent_p.V52V|ZNF788_ENST00000430298.2_Silent_p.V32V|ZNF20_ENST00000600335.1_Intron					zinc finger family member 788											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						ACCGAGAAGTGATGCAAGAAA	0.458000													5	30					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853728	35853728	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr9:35853728C>T	ENST00000377988.2	+	13	2598	c.1310C>T	c.(1309-1311)tCt>tTt	p.S437F	TMEM8B_ENST00000377991.4_Missense_Mutation_p.S437F	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	437					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GGGGTCCCATCTGGAGCCCGG	0.617000													28	19					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	163032438	163032438	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr4:163032438C>G	ENST00000306100.5	-	2	547	c.111G>C	c.(109-111)atG>atC	p.M37I	FSTL5_ENST00000536695.1_Missense_Mutation_p.M37I|FSTL5_ENST00000427802.2_Missense_Mutation_p.M37I|FSTL5_ENST00000379164.4_Missense_Mutation_p.M37I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	37						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTCGCAATCTCATTAGAGGCT	0.403000													13	79					0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112323737	112323737	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:112323737C>T	ENST00000550735.2	+	10	1622	c.866C>T	c.(865-867)cCg>cTg	p.P289L	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.P289L	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	289	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						AAGGTCAAACCGGAGGAGAGA	0.562000													14	30					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133197918	133197918	+	Missense_Mutation	SNP	T	T	C	rs139357505	by1000genomes	TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:133197918T>C	ENST00000389110.3	+	9	1020	c.983T>C	c.(982-984)aTt>aCt	p.I328T	P2RX2_ENST00000350048.5_Missense_Mutation_p.I304T|P2RX2_ENST00000352418.4_Missense_Mutation_p.I256T|P2RX2_ENST00000449132.2_Missense_Mutation_p.I294T|P2RX2_ENST00000351222.4_Missense_Mutation_p.I236T|P2RX2_ENST00000343948.4_Missense_Mutation_p.I328T|P2RX2_ENST00000348800.5_Missense_Mutation_p.I328T	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	328	Pore-forming motif (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		ATTGACGTCATTGTGCATGGA	0.612000													11	209					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16274863	16274863	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:16274863G>A	ENST00000375733.2	-	3	366	c.128C>T	c.(127-129)gCg>gTg	p.A43V	ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A43V|ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A43V			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	43	BTB.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGCAGGCCGCCAGCACTGC	0.587000													3	36					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229567777	229567777	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:229567777G>A	ENST00000366684.3	-	5	874	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	ACTA1_ENST00000366683.2_Missense_Mutation_p.R170C	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	258			R -> H (in NEM3; severe).|R -> L (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TCCGGGCAGCGGAAGCGCTCG	0.711000													6	25					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103639	168103639	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:168103639C>A	ENST00000409195.1	+	9	5826	c.5737C>A	c.(5737-5739)Ctg>Atg	p.L1913M	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1913M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1691M|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1738					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						GACAGAAATTCTGAAAAAGGA	0.363000													4	40					2.56e-06	2.65438e-06	1	1	0
HOOK1	51361	broad.mit.edu	37	1	60312757	60312757	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:60312757G>A	ENST00000371208.3	+	10	1086	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	HOOK1_ENST00000395561.2_Missense_Mutation_p.E235K|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	277	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TCACTGTGAAGAACTTGAAAA	0.323000													16	126					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73462367	73462367	+	Silent	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr10:73462367C>G	ENST00000224721.6	+	23	2669	c.2664C>G	c.(2662-2664)ctC>ctG	p.L888L	CDH23_ENST00000299366.7_Silent_p.L928L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	883	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTTGGATCTCAATGACAATG	0.572000													35	66					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42129708	42129708	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr8:42129708C>G	ENST00000520810.1	+	2	276	c.90C>G	c.(88-90)atC>atG	p.I30M	IKBKB_ENST00000518983.1_Missense_Mutation_p.I30M|IKBKB_ENST00000379708.3_Missense_Mutation_p.S3C|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.S3C|IKBKB_ENST00000519735.1_Missense_Mutation_p.I30M|IKBKB_ENST00000522147.1_Missense_Mutation_p.I30M	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	30	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GAAATGTCATCCGATGGCACA	0.592000													21	44					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26026180	26026180	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr15:26026180C>A	ENST00000356865.6	-	2	751	c.640G>T	c.(640-642)Ggc>Tgc	p.G214C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	214					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCGAGAAGCCGCGGACCACC	0.617000													11	57					7.03913e-09	7.4357e-09	1	1	0
ATL2	64225	broad.mit.edu	37	2	38542449	38542449	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:38542449C>G	ENST00000378954.4	-	5	632	c.631G>C	c.(631-633)Gaa>Caa	p.E211Q	ATL2_ENST00000406122.1_Missense_Mutation_p.E40Q|ATL2_ENST00000419554.2_Missense_Mutation_p.E211Q|ATL2_ENST00000452935.2_Missense_Mutation_p.E193Q|ATL2_ENST00000332337.4_Missense_Mutation_p.E193Q|ATL2_ENST00000402054.1_Missense_Mutation_p.E40Q|ATL2_ENST00000546051.1_Missense_Mutation_p.E40Q|ATL2_ENST00000539122.1_Missense_Mutation_p.E40Q	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	211					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AGATCATCTTCTTGAATATTC	0.308000													13	41					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569404	30569404	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:30569404G>C	ENST00000376511.2	-	20	3297	c.2745C>G	c.(2743-2745)ttC>ttG	p.F915L		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	915					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCTTCATCATGAAATGTCGGC	0.562000													5	23					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130649121	130649121	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:130649121G>A	ENST00000229030.4	+	1	2118	c.1634G>A	c.(1633-1635)aGa>aAa	p.R545K	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	545					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AAGAGCCGGAGAAAACCGGCC	0.567000													5	56					0	0	1	0	0
HNMT	3176	broad.mit.edu	37	2	138738934	138738934	+	Silent	SNP	A	A	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:138738934A>G	ENST00000329366.4	+	3	521	c.339A>G	c.(337-339)aaA>aaG	p.K113K	HNMT_ENST00000485653.1_Intron|HNMT_ENST00000280097.3_Intron|HNMT_ENST00000410115.1_Intron	NM_001024075.1	NP_001019246.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	0					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TAGAAAGCAAatctgcatttc	0.433000													26	80					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33424513	33424513	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:33424513T>C	ENST00000305768.5	-	8	818	c.730A>G	c.(730-732)Aaa>Gaa	p.K244E	CEP89_ENST00000590597.2_Missense_Mutation_p.K244E	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTTTCTTCTTTTAATGCCTCA	0.328000													45	81					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65489366	65489366	+	Silent	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr15:65489366C>T	ENST00000261883.4	-	9	3424	c.3258G>A	c.(3256-3258)acG>acA	p.T1086T		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1086					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCTCCTTGGCCGTGCGAGGGT	0.572000													6	17					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51980540	51980540	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr15:51980540G>C	ENST00000220478.3	+	5	884	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	161					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CAGGATTTATGAAGAAAATGA	0.413000													11	43					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841978	27841978	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:27841978A>G	ENST00000318304.8	+	26	2828	c.2545A>G	c.(2545-2547)Atg>Gtg	p.M849V	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.M843V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.M696V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.M818V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	849	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CGTAGAAACAATGGCTCAGTT	0.393000													19	151					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	125032420	125032420	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr3:125032420G>C	ENST00000360647.4	-	4	550	c.65C>G	c.(64-66)tCt>tGt	p.S22C	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.S22C|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.S22C|ZNF148_ENST00000484491.1_Missense_Mutation_p.S22C	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	22					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGTCCTGGAAGACTGCATTTC	0.448000													19	72					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131803046	131803046	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:131803046C>T	ENST00000392953.3	+	13	2467	c.1948C>T	c.(1948-1950)Cgg>Tgg	p.R650W	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.R650W|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000326016.5_Intron|ARHGEF4_ENST00000355771.3_Intron	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	655					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCCACCTCCTCGGCTGCCCGG	0.612000													11	40					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	66					0.150653	0.150653	1	1	0
RNF141	50862	broad.mit.edu	37	11	10555657	10555657	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:10555657G>A	ENST00000265981.2	-	2	191	c.49C>T	c.(49-51)Cca>Tca	p.P17S	RNF141_ENST00000528665.1_Missense_Mutation_p.P17S	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	17							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		ACTTTTTCTGGTAACTTGTTA	0.388000													18	65					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48352894	48352894	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr8:48352894C>G	ENST00000297423.4	+	8	1271	c.887C>G	c.(886-888)tCt>tGt	p.S296C	SPIDR_ENST00000518074.1_Missense_Mutation_p.S236C|SPIDR_ENST00000541342.1_Missense_Mutation_p.S226C|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		GGTAGAAAATCTGGTGTATTA	0.398000													21	37					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3008457	3008457	+	Silent	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr20:3008457G>C	ENST00000216877.6	+	19	2263	c.1863G>C	c.(1861-1863)gtG>gtC	p.V621V	PTPRA_ENST00000399903.2_Silent_p.V630V|PTPRA_ENST00000318266.5_Silent_p.V621V|PTPRA_ENST00000356147.3_Silent_p.V621V|PTPRA_ENST00000380393.3_Silent_p.V630V|PTPRA_ENST00000425918.2_Silent_p.V641V|PTPRA_ENST00000358719.4_Silent_p.V486V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	630	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTCTATCGTGATGCTAACAG	0.522000													8	37					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149148129	149148129	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:149148129C>G	ENST00000247930.4	-	4	1371	c.1048G>C	c.(1048-1050)Gac>Cac	p.D350H		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	350	Glu-rich.|KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCCTCAGAGTCTTCCTGCTCC	0.532000													28	52					0	0	1	0	0
LOC100134368	100134368	broad.mit.edu	37	16	437277	437277	+	RNA	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:437277C>G	ENST00000412293.1	+	0	521					NR_024453.2																						ATATATATatcttgtcaccat	0.428000													3	10					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171399459	171399459	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:171399459G>A	ENST00000334231.6	+	31	3646	c.3646G>A	c.(3646-3648)Gca>Aca	p.A1216T	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A1207T|MYO3B_ENST00000409044.3_Missense_Mutation_p.A1180T			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1207					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CGATATCTTCGCAGGACATGC	0.368000													12	104					0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10626925	10626925	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:10626925G>C	ENST00000359543.3	-	5	550	c.341C>G	c.(340-342)tCc>tGc	p.S114C	EMP2_ENST00000536829.1_Missense_Mutation_p.S114C	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	114					cell proliferation	integral to membrane		p.S114Y(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						TGTATAAATGGAGGCCGCAAT	0.512000													12	64					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006001	74006001	+	Silent	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:74006001C>G	ENST00000301607.3	-	22	3538	c.3285G>C	c.(3283-3285)ctG>ctC	p.L1095L	EVPL_ENST00000586740.1_Silent_p.L1117L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1095	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTGCAGCCTCAGAGCCTGGG	0.592000													9	41					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861513	55861513	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:55861513C>T	ENST00000302124.2	+	1	761	c.730C>T	c.(730-732)Ctc>Ttc	p.L244F		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CGCATCCCACCTCATGGCTGT	0.488000													11	54					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145757708	145757708	+	Silent	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr8:145757708C>T	ENST00000276826.5	-	8	3069	c.2868G>A	c.(2866-2868)ctG>ctA	p.L956L	ARHGAP39_ENST00000540274.1_Silent_p.L956L|ARHGAP39_ENST00000377307.2_Silent_p.L987L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	956	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGGTCTTCCAGGCCTGTGG	0.672000													3	21					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													12	22					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407300	9407300	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:9407300G>A	ENST00000591998.1	-	6	1008	c.780C>T	c.(778-780)ttC>ttT	p.F260F	ZNF699_ENST00000308650.3_Silent_p.F260F			Q32M78	ZN699_HUMAN	zinc finger protein 699	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAACAGCTGAAGGCTTTGG	0.408000													17	73					0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226496865	226496865	+	Silent	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:226496865C>T	ENST00000328205.5	-	1	569	c.24G>A	c.(22-24)ttG>ttA	p.L8L	LIN9_ENST00000366801.1_5'UTR|LIN9_ENST00000481685.1_Silent_p.L8L	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	0	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCCGCTTTTTCAAAGGCTGCC	0.662000													19	61					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11193838	11193838	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:11193838G>A	ENST00000379446.5	-	3	713	c.547C>T	c.(547-549)Cat>Tat	p.H183Y	NEDD9_ENST00000504387.1_Missense_Mutation_p.H183Y|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	183	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGAGTGGTATGAGAAGGAGGG	0.502000													13	26					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50720992	50720992	+	Missense_Mutation	SNP	G	G	A	rs138001307	by1000genomes	TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:50720992G>A	ENST00000440075.2	+	3	573	c.526G>A	c.(526-528)Gca>Aca	p.A176T	MYH14_ENST00000596571.1_Missense_Mutation_p.A176T|MYH14_ENST00000601313.1_Missense_Mutation_p.A176T|MYH14_ENST00000425460.1_Missense_Mutation_p.A176T|MYH14_ENST00000262269.8_Missense_Mutation_p.A176T|MYH14_ENST00000376970.2_Missense_Mutation_p.A176T|MYH14_ENST00000598205.1_Missense_Mutation_p.A176T			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	176	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCACGTGTACGCAGTGACCGA	0.632000													34	79					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	114987	114987	+	Silent	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:114987C>T	ENST00000262316.6	-	2	169	c.27G>A	c.(25-27)acG>acA	p.T9T	RHBDF1_ENST00000454039.2_Silent_p.T9T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	9					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCAGGCTGCTCGTGCTGTCCC	0.597000													7	33					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62234019	62234019	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr15:62234019G>C	ENST00000261517.5	-	46	5469	c.5396C>G	c.(5395-5397)tCt>tGt	p.S1799C	VPS13C_ENST00000249837.3_Missense_Mutation_p.S1756C|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1799C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1756C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1799					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGGAGGAAGAGAATAATGTTC	0.343000													9	27					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14834400	14834400	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:14834400G>A	ENST00000261170.3	-	5	759	c.623C>T	c.(622-624)gCt>gTt	p.A208V	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	208					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGCCTCCAGAGCATTAAGGTA	0.428000													25	18					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105420847	105420847	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr10:105420847C>T	ENST00000369774.4	-	8	774	c.498G>A	c.(496-498)atG>atA	p.M166I	SH3PXD2A_ENST00000538130.1_Start_Codon_SNP_p.M1I|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.M28I|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.M33I|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.M166I			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	166	SH3 1.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GTTCCAGGATCATGGGCTCGG	0.662000													51	99					0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75884198	75884198	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:75884198G>T	ENST00000266659.3	+	3	634	c.433G>T	c.(433-435)Gat>Tat	p.D145Y		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	145					cellular lipid metabolic process	extracellular region|integral to membrane		p.D145Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TGTTTGGGCAGATAGTTACAA	0.388000													12	13					9.31168e-06	9.56679e-06	1	1	0
RINT1	60561	broad.mit.edu	37	7	105205877	105205877	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:105205877G>A	ENST00000257700.2	+	13	2271	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E	EFCAB10_ENST00000485614.1_3'UTR|EFCAB10_ENST00000480514.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	680	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGCTTGTAGAGAAGCTGGATG	0.378000													27	49					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460325	142460325	+	Silent	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:142460325G>C	ENST00000486171.1	+	5	557	c.540G>C	c.(538-540)ctG>ctC	p.L180L	PRSS1_ENST00000311737.7_Silent_p.L166L			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	166	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.L166L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTCCTGTGCTGAGCCAGGCTA	0.527000													27	233					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33131495	33131495	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:33131495C>T	ENST00000341947.2	-	66	5398	c.5171G>A	c.(5170-5172)cGg>cAg	p.R1724Q	COL11A2_ENST00000357486.1_Missense_Mutation_p.R1703Q|COL11A2_ENST00000374712.1_Missense_Mutation_p.R1643Q|COL11A2_ENST00000374708.4_Missense_Mutation_p.R1638Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.R1617Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.R1664Q|COL11A2_ENST00000374714.1_Missense_Mutation_p.R1698Q|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374713.1_Missense_Mutation_p.R1677Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1724	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACCCCTCCCCGCCTCGGTGG	0.637000													14	34					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110366476	110366476	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chrX:110366476C>T	ENST00000372007.5	+	5	536	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	PAK3_ENST00000360648.4_Missense_Mutation_p.R49C|PAK3_ENST00000417227.1_Missense_Mutation_p.R49C|PAK3_ENST00000519681.1_Missense_Mutation_p.R49C|PAK3_ENST00000518291.1_Missense_Mutation_p.R49C|PAK3_ENST00000262836.4_Missense_Mutation_p.R49C|PAK3_ENST00000425146.1_Missense_Mutation_p.R49C|PAK3_ENST00000446737.1_Missense_Mutation_p.R49C|PAK3_ENST00000372010.1_Missense_Mutation_p.R49C	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3						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						AGCCAGGCTTCGCTCTATCTT	0.448000										TSP Lung(19;0.15)			18	42					0	0	1	0	0
PIRT	644139	broad.mit.edu	37	17	10728777	10728777	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:10728777G>A	ENST00000580256.2	-	2	824	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels							integral to membrane		p.G62G(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GGATGGCACCGCCCACTGACA	0.567000													17	15					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59599270	59599270	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:59599270C>G	ENST00000541311.1	-	8	1233		c.e8-1		GIF_ENST00000257248.2_Splice_Site			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)						cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTTTCAAATCTAAAAAAAAG	0.338000													14	37					0	0	1	0	0
TIGD7	91151	broad.mit.edu	37	16	3350606	3350606	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:3350606C>G	ENST00000396862.1	-	2	1837	c.9G>C	c.(7-9)aaG>aaC	p.K3N	TIGD7_ENST00000268674.2_Missense_Mutation_p.K3N	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	3	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATTTCCCTCTCTTATTCATAC	0.328000													9	51					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432260	10432260	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:10432260G>A	ENST00000245503.5	-	27	3875	c.3491C>T	c.(3490-3492)tCa>tTa	p.S1164L	MYH2_ENST00000397183.2_Missense_Mutation_p.S1164L|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1164					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATCTGGGCTGAAGTGGCCCC	0.632000													54	68					0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30522657	30522657	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:30522657C>G	ENST00000376621.3	-	4	1382	c.412G>C	c.(412-414)Gag>Cag	p.E138Q		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	138					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	p.E138K(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTGGACATCTCATAGCTCCAA	0.473000													27	36					0	0	1	0	0
RAB1B	81876	broad.mit.edu	37	11	66039643	66039643	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:66039643G>T	ENST00000311481.6	+	3	250	c.103G>T	c.(103-105)Gag>Tag	p.E35*	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Nonsense_Mutation_p.E35*	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	35					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CACGTACACAGAGAGCTACAT	0.527000													22	119					3.8784e-16	4.19539e-16	1	1	0
TEFM	79736	broad.mit.edu	37	17	29226501	29226501	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:29226501G>C	ENST00000581216.1	-	4	1390	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	257					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										AAGGCATACAGCATGGCTTCC	0.403000													15	105					0	0	1	0	0
UBE2D1	7321	broad.mit.edu	37	10	60123418	60123418	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr10:60123418C>G	ENST00000373910.4	+	4	397	c.170C>G	c.(169-171)cCg>cGg	p.P57R		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						GTACATTTTCCGACAGATTAT	0.308000													13	46					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													5	74					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215037	105215037	+	Silent	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr10:105215037G>C	ENST00000329905.5	-	2	1159	c.1023C>G	c.(1021-1023)acC>acG	p.T341T	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	341						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGCTGAAGTAGGTGGCCACCT	0.652000													5	9					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451431	38451431	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr5:38451431G>C	ENST00000322350.5	+	19	2904	c.2558G>C	c.(2557-2559)aGa>aCa	p.R853T	EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R861T|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R219T|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R619T|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000514476.1_5'UTR	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	861	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCAGGATCAAGATCAAATGTG	0.473000													16	160					0	0	1	0	0
TMED4	222068	broad.mit.edu	37	7	44621076	44621076	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:44621076C>A	ENST00000457408.2	-	3	411	c.359G>T	c.(358-360)aGg>aTg	p.R120M	TMED4_ENST00000481238.1_Missense_Mutation_p.R120M|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000289577.5_Missense_Mutation_p.R120M	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	120	GOLD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GAGAGCCATCCTGGTAGAATT	0.507000													36	78					7.53189e-24	8.18684e-24	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123145733	123145733	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr4:123145733C>G	ENST00000264501.4	+	23	3067	c.2694C>G	c.(2692-2694)ttC>ttG	p.F898L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.F898L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.F898L|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	898					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACGCTATGTTCTCAGCAGAAG	0.483000													9	25					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108642051	108642051	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:108642051C>G	ENST00000332082.4	+	10	2447	c.1629C>G	c.(1627-1629)atC>atG	p.I543M	WSCD2_ENST00000549903.1_Missense_Mutation_p.I563M|WSCD2_ENST00000261400.3_Missense_Mutation_p.I563M|WSCD2_ENST00000547525.1_Missense_Mutation_p.I543M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	543						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGCCTACATCAAGATGGTGG	0.567000													11	30					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008181	41008181	+	Silent	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:41008181C>T	ENST00000352632.3	+	9	1130	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	SPTBN4_ENST00000595535.1_Silent_p.L348L|SPTBN4_ENST00000338932.3_Silent_p.L348L|SPTBN4_ENST00000598249.1_Silent_p.L348L|SPTBN4_ENST00000344104.3_Silent_p.L348L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	348					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCAGCAACTCCAGGCTTTCA	0.622000													18	52					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27614352	27614352	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:27614352G>A	ENST00000319394.3	+	6	1014	c.479G>A	c.(478-480)cGc>cAc	p.R160H	WDTC1_ENST00000361771.3_Splice_Site_p.R160H	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	160							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGGCTTATCCGGTAAGAGTCT	0.557000													3	3					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													6	101					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177037064	177037064	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr4:177037064G>A	ENST00000393643.2	+	3	493	c.241G>A	c.(241-243)Gat>Aat	p.D81N	WDR17_ENST00000508596.1_Missense_Mutation_p.D81N|WDR17_ENST00000280190.4_Missense_Mutation_p.D105N|WDR17_ENST00000507824.2_Missense_Mutation_p.D105N	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	105										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGCAGTACTGATAATTTAGT	0.328000													11	22					0	0	1	0	0
CYB5R1	51706	broad.mit.edu	37	1	202932290	202932290	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:202932290C>T	ENST00000367249.4	-	8	723	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	217					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			ATATCCTTTTCTGTCTGAAAT	0.433000													18	41					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40817778	40817778	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:40817778C>T	ENST00000251412.7	+	8	975	c.776C>T	c.(775-777)tCg>tTg	p.S259L		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	259					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CTCATCGCCTCGCTCATTCCC	0.622000													19	81					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39201111	39201111	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr4:39201111G>C	ENST00000399820.3	+	6	574	c.420G>C	c.(418-420)aaG>aaC	p.K140N	WDR19_ENST00000288634.7_5'UTR|WDR19_ENST00000506503.1_Missense_Mutation_p.K140N	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	140					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AACATACTAAGAGAATCACTT	0.328000													3	14					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101095297	101095297	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:101095297C>T	ENST00000369162.2	-	21	3627	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1095	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGAGCAATTTCAAAAAGAGCA	0.398000													7	44					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65154550	65154550	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:65154550G>A	ENST00000317568.5	+	2	206	c.43G>A	c.(43-45)Gag>Aag	p.E15K	FRMD8_ENST00000355991.5_Missense_Mutation_p.E15K|FRMD8_ENST00000531296.1_Missense_Mutation_p.E15K|FRMD8_ENST00000416776.2_Missense_Mutation_p.E15K	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	15						cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CGGCCCCGCTGAGCGATCCCA	0.672000													23	49					0	0	1	0	0
C5orf22	55322	broad.mit.edu	37	5	31538746	31538746	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr5:31538746G>C	ENST00000325366.9	+	4	884	c.757G>C	c.(757-759)Gac>Cac	p.D253H	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	253										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						TTTAGATATTGACTTGGATTT	0.348000													10	62					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724206	140724206	+	Silent	SNP	T	T	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr5:140724206T>G	ENST00000253812.6	+	1	606	c.606T>G	c.(604-606)cgT>cgG	p.R202R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGGACCGTGAGAAAAAAG	0.537000													22	31					0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81791204	81791204	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr4:81791204G>T	ENST00000358105.3	+	4	440	c.391G>T	c.(391-393)Gac>Tac	p.D131Y	C4orf22_ENST00000508675.1_Missense_Mutation_p.D148Y	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	131										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AGGATACATCGACTATGCCCA	0.368000													30	46					4.74835e-14	5.06341e-14	1	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													4	44					0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1594935	1594935	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:1594935G>A	ENST00000297477.5	-	2	502	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	62						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CAGTCCACACGAAGATCCCCG	0.682000													4	11					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66703945	66703945	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:66703945G>C	ENST00000247815.4	+	4	1296	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	413					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGTAAGATTAGAAAATCCTGT	0.398000													21	107					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15894505	15894505	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:15894505G>A	ENST00000375847.3	+	15	2346	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N	DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	728					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GTCGTGCAGTGATGTTGACTC	0.502000													9	38					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380902	380902	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:380902G>A	ENST00000329962.6	+	19	2947	c.2947G>A	c.(2947-2949)Gag>Aag	p.E983K		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	983						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATGAACACGGAGGAGTTCCG	0.622000													5	23					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157256609	157256609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:157256609C>T	ENST00000346085.5	+	5	1937	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q633*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q633*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q575*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	633					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGACATGTCTCAGGAAGGCTA	0.378000													20	62					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193044814	193044814	+	Silent	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr3:193044814G>C	ENST00000342358.4	-	13	1611	c.1494C>G	c.(1492-1494)ctC>ctG	p.L498L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	498					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGTCCCCCAGAGGTCCAGCC	0.383000													5	27					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104408	5104408	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:5104408G>A	ENST00000396912.1	+	5	1840	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.V441M	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	441	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CTTTTCTCGGGTGTCATACCT	0.393000													30	47					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52517693	52517693	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr15:52517693G>C	ENST00000261839.7	-	26	3405	c.3244C>G	c.(3244-3246)Cag>Gag	p.Q1082E		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1082						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCTGTGCCTGAAGTAGTTCT	0.373000													20	80					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9861227	9861227	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:9861227C>G	ENST00000256190.8	-	26	3410	c.3273G>C	c.(3271-3273)gaG>gaC	p.E1091D	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1091					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTGTGGGGAGCTCACTCTCAT	0.458000													16	62					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647544	20647544	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr2:20647544C>A	ENST00000272233.4	+	1	710	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	106					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		TGAAGCACTTCTGTCCCAATG	0.607000													40	106					2.59497e-14	2.78033e-14	1	1	0
DCDC1	341019	broad.mit.edu	37	11	31312247	31312247	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:31312247C>T	ENST00000597505.1	-	5	906	c.907G>A	c.(907-909)Ggc>Agc	p.G303S	DCDC1_ENST00000452803.1_Missense_Mutation_p.G303S			P59894	DCDC1_HUMAN	doublecortin domain containing 1	303					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)					TGCCCCATGCCATTCTTAAAG	0.338000													15	67					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180661962	180661962	+	Nonsense_Mutation	SNP	C	C	T	rs151121296		TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr5:180661962C>T	ENST00000351937.5	+	7	2208	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	TRIM41_ENST00000315073.5_3'UTR	NM_201627.2	NP_963921.1	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	176	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTCCAGCTCAGCCTTCTCT	0.572000													17	27					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43945416	43945416	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr20:43945416G>A	ENST00000343694.3	+	12	1443	c.1371G>A	c.(1369-1371)atG>atA	p.M457I	RBPJL_ENST00000372743.1_Missense_Mutation_p.M456I|RBPJL_ENST00000372741.3_Missense_Mutation_p.E461K|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	457	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CAATCCCCATGAGCCTGGTGC	0.706000													23	50					0	0	1	0	0
PKIG	11142	broad.mit.edu	37	20	43246970	43246970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr20:43246970C>T	ENST00000372889.1	+	6	781	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	PKIG_ENST00000372894.3_Nonsense_Mutation_p.Q66*|PKIG_ENST00000349959.3_Nonsense_Mutation_p.Q66*|PKIG_ENST00000372887.1_Intron|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372891.3_Nonsense_Mutation_p.Q66*|PKIG_ENST00000372886.1_Nonsense_Mutation_p.Q66*|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372892.3_Nonsense_Mutation_p.Q66*	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	66							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			AGCTGGCAACCAGCCCCAGAG	0.562000													32	146					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78163292	78163292	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr13:78163292C>A	ENST00000535157.1	+	9	663	c.493C>A	c.(493-495)Cac>Aac	p.H165N	SCEL_ENST00000349847.3_Missense_Mutation_p.H187N|SCEL_ENST00000377246.3_Missense_Mutation_p.H187N	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	187					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACCAGGTGTTCACCCTCCAAT	0.393000													58	48					4.45325e-31	4.86399e-31	1	1	0
OR4D11	219986	broad.mit.edu	37	11	59271312	59271312	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:59271312G>A	ENST00000313253.1	+	1	264	c.264G>A	c.(262-264)aaG>aaA	p.K88K		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTGTCAAAGAAAAAGACCA	0.468000													13	101					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95690439	95690439	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr8:95690439C>T	ENST00000433389.2	+	13	1850	c.1660C>T	c.(1660-1662)Cct>Tct	p.P554S	ESRP1_ENST00000454170.2_Missense_Mutation_p.P554S|ESRP1_ENST00000423620.2_Missense_Mutation_p.P550S|ESRP1_ENST00000358397.5_Missense_Mutation_p.P550S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	554					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGGCCTGTCTCCTCCCTCCTA	0.463000													14	24					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423751	56423751	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:56423751C>G	ENST00000588751.1	-	5	1456	c.1432G>C	c.(1432-1434)Gga>Cga	p.G478R	NLRP13_ENST00000342929.3_Missense_Mutation_p.G478R			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	478	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCCATTGTCCTGGCCAGCTG	0.502000													7	105					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020801	90020801	+	Silent	SNP	G	G	A	rs146417060	byFrequency	TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr15:90020801G>A	ENST00000268122.4	-	7	1127	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	RHCG_ENST00000544600.1_Silent_p.I353I	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	353					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.I353I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CAGCACCCACGATGCCGCCTA	0.577000													7	15					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70549495	70549495	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr10:70549495G>A	ENST00000265872.6	+	24	3335	c.3216G>A	c.(3214-3216)ttG>ttA	p.L1072L	CCAR1_ENST00000535016.1_Silent_p.L1057L|CCAR1_ENST00000543719.1_Silent_p.L1057L	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	1072					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TATTAAATTTGGAGAATTCCA	0.269000													15	39					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472475	23472475	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr20:23472475C>G	ENST00000246012.1	+	2	528	c.171C>G	c.(169-171)aaC>aaG	p.N57K		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	57						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AAGAATACAACAAAGAGAGCG	0.458000													18	56					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													4	69					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144891738	144891738	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr8:144891738C>T	ENST00000356994.2	-	14	1687	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	SCRIB_ENST00000377533.3_Missense_Mutation_p.E480K|SCRIB_ENST00000320476.3_Missense_Mutation_p.E561K	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	561	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				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)			TAGTCCTCTTCGGCGTCTTCC	0.692000													22	52					0	0	1	0	0
SNHG1	23642	broad.mit.edu	37	11	62621156	62621156	+	RNA	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:62621156C>G	ENST00000384693.1	-	0	48					NR_002561.1																						TTCAGAGTCTCAACAGCAAGT	0.438000													5	80					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45204507	45204507	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr11:45204507G>A	ENST00000263765.4	+	5	670	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PRDM11_ENST00000530656.1_Missense_Mutation_p.D141N|PRDM11_ENST00000424263.2_Missense_Mutation_p.D107N|PRDM11_ENST00000528980.1_3'UTR			Q9NQV5	PRD11_HUMAN	PR domain containing 11	141										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GGGCATCCCAGACCGGGCGGC	0.607000													13	17					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30492809	30492809	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr16:30492809C>G	ENST00000356798.6	+	7	806	c.626C>G	c.(625-627)tCa>tGa	p.S209*	ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000358164.5_Nonsense_Mutation_p.S126*|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	209	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTTGATTTCTCAGATTATGTT	0.393000													19	44					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48538160	48538160	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr17:48538160G>A	ENST00000427954.2	+	3	369	c.326G>A	c.(325-327)aGg>aAg	p.R109K	ACSF2_ENST00000502667.1_Missense_Mutation_p.R84K|ACSF2_ENST00000504392.1_Missense_Mutation_p.R84K|ACSF2_ENST00000300441.4_Missense_Mutation_p.R84K|ACSF2_ENST00000541920.1_Intron			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	84					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			ACAGCACAGAGGGTCCCAGAA	0.577000													5	26					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19226822	19226822	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr22:19226822C>G	ENST00000263200.10	-	5	843	c.771G>C	c.(769-771)caG>caC	p.Q257H	CLTCL1_ENST00000353891.5_Missense_Mutation_p.Q257H|CLTCL1_ENST00000427926.1_Missense_Mutation_p.Q257H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	257	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAAAATCATTCTGTGCCTCTG	0.453000			T	?	ALCL								32	100					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86142945	86142945	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:86142945delA	ENST00000431532.2	-	9	1252	c.1104delT	c.(1102-1104)attfs	p.I368fs	ZNHIT6_ENST00000370574.3_Frame_Shift_Del_p.I407fs	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	407					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GCATATATTCAATCTTCATTA	0.299													22	43	---	---	---	---					
CENPF	1063	broad.mit.edu	37	1	214814820	214814820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr1:214814820delC	ENST00000366955.3	+	12	3307	c.3139delC	c.(3139-3141)cagfs	p.Q1047fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1047					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAAGCAGCACAGGAAAAGAA	0.328													12	48	---	---	---	---					
CC2D2A	57545	broad.mit.edu	37	4	15513005	15513007	+	In_Frame_Del	DEL	GAA	GAA	-	rs112367037		TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr4:15513005_15513007delGAA	ENST00000424120.1	+	8	930_932	c.676_678delGAA	c.(676-678)gaadel	p.E229del	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000503292.1_In_Frame_Del_p.E229del|CC2D2A_ENST00000389652.5_In_Frame_Del_p.E180del			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	229	Poly-Glu.				cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GGAGGAAGGGGAAGAAGAAGAAC	0.443													2	4	---	---	---	---					
STK38	11329	broad.mit.edu	37	6	36466216	36466224	+	In_Frame_Del	DEL	CCTTCTTAT	CCTTCTTAT	-			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr6:36466216_36466224delCCTTCTTAT	ENST00000229812.7	-	11	1277_1285	c.992_1000delATAAGAAGG	c.(991-1002)tataagaaggtg>ttg	p.331_334YKKV>L		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	331	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	p.K332T(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGTTCATCACCTTCTTATATGTCTCTTG	0.416													15	86	---	---	---	---					
TRBV6-5	28602	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115																											CCTGCAGAGAAGGAGAACAAAGC	0.557													8	104	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	2384	---	---	---	---					
ASCL1	429	broad.mit.edu	37	12	103352172	103352174	+	In_Frame_Del	DEL	GCA	GCA	-	rs72405287		TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:103352172_103352174delGCA	ENST00000266744.3	+	1	709_711	c.150_152delGCA	c.(148-153)gcgcag>gcg	p.Q62del		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						cgcagagcgcgcagcagcagcag	0.754													2	4	---	---	---	---					
RP11-897M7.1	0	broad.mit.edu	37	12	131962147	131962148	+	RNA	INS	-	-	TGA	rs149149753	by1000genomes	TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr12:131962147_131962148insTGA	ENST00000535133.1	-	0	195																											gatggtaatggtggtgatgatg	0.450													3	6	---	---	---	---					
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	-	CCG	rs141478862	by1000genomes	TCGA-XF-A9SK-01A-11D-A42E-08	TCGA-XF-A9SK-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81256b76-1f99-43b4-a726-a32258f160e6	44ed8f12-a1e4-4a81-bb59-f8a327cf3572	g.chr19:56089908_56089909insCCG	ENST00000325421.4	-	2	1125_1126	c.1097_1098insCGG	c.(1096-1098)ggg>ggCGGg	p.366_366G>GG		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	366	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G366_Q367insG(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748													3	4	---	---	---	---					
