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
GNAS	2778	broad.mit.edu	37	20	57415491	57415491	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:57415491G>A	ENST00000313949.7	+	1	719	c.330G>A	c.(328-330)gaG>gaA	p.E110E	GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Silent_p.E110E|GNAS_ENST00000371075.3_Silent_p.E110E|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	123					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCGACTACGAGACCGAGAGCG	0.622000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			11	80					0	0	0.001855	0	0
C1orf173	127254	broad.mit.edu	37	1	75107038	75107038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:75107038C>A	ENST00000326665.5	-	5	639	c.421G>T	c.(421-423)Gga>Tga	p.G141*		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	141										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGGAATGTCCTTCATCAACC	0.423000													18	66					8.00594e-06	8.56389e-06	0.007413	1	0
NBEAL1	65065	broad.mit.edu	37	2	204000719	204000719	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:204000719C>G	ENST00000449802.1	+	27	4379	c.4046C>G	c.(4045-4047)tCt>tGt	p.S1349C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1349							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAAGATAGCTCTGTGGGAGAA	0.408000													18	73					0	0	0.004990	0	0
H1F0	3005	broad.mit.edu	37	22	38201558	38201558	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:38201558G>C	ENST00000340857.2	+	1	445	c.7G>C	c.(7-9)Gag>Cag	p.E3Q		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	3					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CACCATGACCGAGAATTCCAC	0.627000													8	33					0	0	0.003080	0	0
EPX	8288	broad.mit.edu	37	17	56277623	56277623	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:56277623C>T	ENST00000225371.5	+	10	1685	c.1575C>T	c.(1573-1575)acC>acT	p.T525T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	525					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCATGGCCACCCCTGCCAAGC	0.612000											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	55					0	0	0.014410	0	0
FHOD1	29109	broad.mit.edu	37	16	67281227	67281227	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:67281227G>C	ENST00000258201.4	-	1	334	c.87C>G	c.(85-87)ttC>ttG	p.F29L	FHOD1_ENST00000567687.1_Missense_Mutation_p.F29L	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	29					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGCACATGCGAAGGGGTCGG	0.721000													15	18					0	0	0.004990	0	0
PEG3	5178	broad.mit.edu	37	19	57334186	57334186	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:57334186C>A	ENST00000326441.9	-	6	863	c.500G>T	c.(499-501)cGg>cTg	p.R167L	ZIM2_ENST00000593931.1_Missense_Mutation_p.R42L|ZIM2_ENST00000391708.3_Missense_Mutation_p.R42L|ZIM2_ENST00000593711.1_Missense_Mutation_p.R42L|ZIM2_ENST00000601070.1_Missense_Mutation_p.R42L|PEG3_ENST00000593695.1_Missense_Mutation_p.R41L|PEG3_ENST00000423103.2_Missense_Mutation_p.R167L|ZIM2_ENST00000599935.1_Missense_Mutation_p.R42L|ZIM2_ENST00000221722.5_Missense_Mutation_p.R42L|PEG3_ENST00000598410.1_Missense_Mutation_p.R42L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	167					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTGCCCCTCCGGTCCCAGTC	0.542000													7	10					8.12818e-05	8.55598e-05	0.001984	1	0
ARHGDIB	397	broad.mit.edu	37	12	15095518	15095518	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:15095518C>T	ENST00000228945.4	-	6	688	c.544G>A	c.(544-546)Gac>Aac	p.D182N	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.D182N|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.D182N|ARHGDIB_ENST00000539131.1_5'UTR	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	182					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TCTTGCTTGTCATCGTCGGTG	0.562000													20	115					0	0	0.012319	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735853	55735853	+	Silent	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:55735853G>T	ENST00000312345.2	-	1	137	c.87C>A	c.(85-87)atC>atA	p.I29I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGCACATCAGGATCATCAAAT	0.333000													30	34					2.12542e-12	2.4524e-12	0.006320	1	0
ILF2	3608	broad.mit.edu	37	1	153642698	153642698	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:153642698C>G	ENST00000361891.4	-	2	139	c.14G>C	c.(13-15)aGa>aCa	p.R5T	ILF2_ENST00000368681.1_Missense_Mutation_p.R5T	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	5					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCACGGCCTCTGTCACCCCT	0.512000													17	167					0	0	0.010504	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434260	42434260	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:42434260C>T	ENST00000397272.3	-	20	2569	c.2478G>A	c.(2476-2478)ctG>ctA	p.L826L	PLA2G4F_ENST00000382396.4_Silent_p.L824L	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	824	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCACGTTGTTCAGGACGTTGT	0.597000													12	36					0	0	0.013537	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367527	37367527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:37367527C>T	ENST00000361924.2	+	14	4524	c.4150C>T	c.(4150-4152)Caa>Taa	p.Q1384*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.Q1406*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1384	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTTCAGCTTCAAAATAGCAT	0.343000													9	28					0	0	0.004482	0	0
PATE1	160065	broad.mit.edu	37	11	125618573	125618573	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:125618573A>G	ENST00000305738.5	+	5	338	c.326A>G	c.(325-327)tAt>tGt	p.Y109C	PATE1_ENST00000437148.2_Missense_Mutation_p.Y97C	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	109						extracellular region				large_intestine(1)|lung(5)	6						TGGAGTGTCTATTTGGTGAAC	0.468000													28	35					0	0	0.008361	0	0
EFS	10278	broad.mit.edu	37	14	23828666	23828666	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:23828666G>T	ENST00000216733.3	-	4	1628	c.1021C>A	c.(1021-1023)Cca>Aca	p.P341T	EFS_ENST00000429593.2_Missense_Mutation_p.P172T|EFS_ENST00000351354.3_Missense_Mutation_p.P248T	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	341	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGGCGGGGTGGGGGTGGGGGC	0.701000													35	20					6.05902e-23	7.47468e-23	0.003755	1	0
ATF4P4	100127952	broad.mit.edu	37	11	113659993	113659993	+	RNA	SNP	A	A	C	rs906846	by1000genomes	TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:113659993A>C	ENST00000393544.2	+	0	41																											GGCAGCATGTAGGTTGCAGGG	0.657000													3	37					0	0	0.004672	0	0
C11orf16	56673	broad.mit.edu	37	11	8943023	8943023	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:8943023T>C	ENST00000326053.5	-	6	1350	c.1244A>G	c.(1243-1245)cAc>cGc	p.H415R	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	415										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTGCTGTTTGTGATCCTTTTC	0.468000													49	75					0	0	0.014410	0	0
SEPT9	10801	broad.mit.edu	37	17	75478401	75478401	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:75478401C>G	ENST00000329047.8	+	3	1655	c.843C>G	c.(841-843)ttC>ttG	p.F281L	SEPT9_ENST00000592420.1_Missense_Mutation_p.F108L|SEPT9_ENST00000431235.2_Missense_Mutation_p.F135L|SEPT9_ENST00000427674.2_Missense_Mutation_p.F135L|SEPT9_ENST00000585930.1_Missense_Mutation_p.F75L|SEPT9_ENST00000541152.2_Missense_Mutation_p.F48L|SEPT9_ENST00000449803.2_Missense_Mutation_p.F135L|SEPT9_ENST00000427180.1_Missense_Mutation_p.F187L|SEPT9_ENST00000591088.1_Missense_Mutation_p.F48L|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.F299L|SEPT9_ENST00000591198.1_Missense_Mutation_p.F280L|SEPT9_ENST00000423034.2_Missense_Mutation_p.F292L|SEPT9_ENST00000590917.1_Missense_Mutation_p.F48L|SEPT9_ENST00000590294.1_Missense_Mutation_p.F281L|SEPT9_ENST00000592951.1_Missense_Mutation_p.F48L|SEPT9_ENST00000588690.1_Missense_Mutation_p.F135L	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	299					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCTTCGAGTTCAACATCATGG	0.612000													5	48					0	0	0.001168	0	0
FGR	2268	broad.mit.edu	37	1	27942117	27942117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:27942117C>T	ENST00000374005.3	-	9	1134	c.846G>A	c.(844-846)tgG>tgA	p.W282*	FGR_ENST00000374004.1_Nonsense_Mutation_p.W282*|FGR_ENST00000399173.1_Nonsense_Mutation_p.W282*|FGR_ENST00000545953.1_Nonsense_Mutation_p.W216*	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	282	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGCTGCCGTTCCACGTGCCTG	0.687000													5	21					0	0	0.001168	0	0
NCKAP1	10787	broad.mit.edu	37	2	183791550	183791550	+	Silent	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:183791550T>C	ENST00000360982.2	-	31	4040	c.3282A>G	c.(3280-3282)ctA>ctG	p.L1094L	NCKAP1_ENST00000361354.3_Silent_p.L1088L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1088					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTACCATATCTAGCAGTAAAT	0.318000													20	38					0	0	0.010504	0	0
FAM166B	730112	broad.mit.edu	37	9	35563186	35563186	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:35563186G>C	ENST00000399742.2	-	2	333	c.263C>G	c.(262-264)tCc>tGc	p.S88C	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	88										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						GATCATGCTGGAGCTGAGCCT	0.577000													17	96					0	0	0.004007	0	0
COL4A5	1287	broad.mit.edu	37	X	107909764	107909764	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:107909764G>A	ENST00000328300.6	+	39	3737	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K	COL4A5_ENST00000361603.2_Missense_Mutation_p.E1165K	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1165	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCTCCAGGCGAAAAAGGCAA	0.458000									Alport syndrome with Diffuse Leiomyomatosis				3	18					0	0	0.009096	0	0
DMBT1	1755	broad.mit.edu	37	10	124348479	124348479	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:124348479C>G	ENST00000338354.3	+	17	1909	c.1803C>G	c.(1801-1803)gcC>gcG	p.A601A	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Silent_p.A591A|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Silent_p.A601A|DMBT1_ENST00000344338.3_Silent_p.A591A			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	601					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGTTTGGCCCTGAGGCTGG	0.542000													62	227					0	0	0.014410	0	0
ZNF709	163051	broad.mit.edu	37	19	12575365	12575365	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:12575365G>A	ENST00000397732.3	-	4	1542	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	ZNF709_ENST00000428311.1_Silent_p.F457F|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TGGAACAACTGAAGGCTTTAC	0.398000													25	86					0	0	0.007291	0	0
JARID2	3720	broad.mit.edu	37	6	15517468	15517468	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:15517468G>A	ENST00000341776.2	+	17	3771	c.3527G>A	c.(3526-3528)cGa>cAa	p.R1176Q	JARID2_ENST00000397311.3_Missense_Mutation_p.R1004Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1176					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.R1176Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGTCCTGCCGAGGGCTGAAG	0.617000													20	103					0	0	0.012319	0	0
PPOX	5498	broad.mit.edu	37	1	161140875	161140875	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:161140875G>C	ENST00000367999.4	+	13	1609	c.1343G>C	c.(1342-1344)gGa>gCa	p.G448A	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Missense_Mutation_p.G156A|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.G448A|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	448					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACTCTGGCTGGAGCCTCCTAT	0.532000													11	258					0	0	0.010729	0	0
ASB5	140458	broad.mit.edu	37	4	177142365	177142365	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:177142365G>A	ENST00000296525.3	-	5	724	c.611C>T	c.(610-612)cCt>cTt	p.P204L	ASB5_ENST00000512254.1_Missense_Mutation_p.P151L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	204					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TACATAGAGAGGAGTTCCCAA	0.413000													18	19					0	0	0.007413	0	0
RGS20	8601	broad.mit.edu	37	8	54859233	54859233	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:54859233T>A	ENST00000297313.3	+	4	760	c.668T>A	c.(667-669)gTt>gAt	p.V223D	RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.V108D|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Missense_Mutation_p.V76D	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	223					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AGTCTCACTGTTAGAAACCAG	0.408000													7	66					0	0	0.003080	0	0
SRGAP2	23380	broad.mit.edu	37	1	206628307	206628307	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:206628307G>A	ENST00000414007.1	+	17	2024	c.2024G>A	c.(2023-2025)aGa>aAa	p.R675K	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.R120K			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	815	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTGACAGCCAGAGCGGGGGCC	0.537000													19	93					0	0	0.007413	0	0
ABCA6	23460	broad.mit.edu	37	17	67129836	67129836	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:67129836C>G	ENST00000284425.2	-	6	911	c.737G>C	c.(736-738)aGa>aCa	p.R246T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	246					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGACTTTTTTCTCTCTTTTGT	0.294000													7	76					0	0	0.003080	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826426	43826426	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:43826426C>T	ENST00000389420.3	-	20	2908	c.2909G>A	c.(2908-2910)tGg>tAg	p.W970*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.W124*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.W970*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	970	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGAATAATGCCATCTTGTGAA	0.373000													16	21					0	0	0.004990	0	0
CUL5	8065	broad.mit.edu	37	11	107965677	107965677	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:107965677G>T	ENST00000393094.2	+	15	2322	c.1706G>T	c.(1705-1707)aGa>aTa	p.R569I		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	569					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CATAGTGGTAGAAAATTACAT	0.373000													6	66					1.06961e-07	1.16878e-07	0.003080	1	0
HIST1H2BF	8343	broad.mit.edu	37	6	26199818	26199818	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:26199818C>T	ENST00000359985.1	+	1	71	c.32C>T	c.(31-33)cCa>cTa	p.P11L		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GCTCCTGCTCCAAAAAAGGGC	0.488000													44	85					0	0	0.009718	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	18					1.12685e-05	1.20343e-05	0.004482	1	0
RERGL	79785	broad.mit.edu	37	12	18234245	18234245	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:18234245G>A	ENST00000229002.2	-	6	704	c.498C>T	c.(496-498)atC>atT	p.I166I	RERGL_ENST00000538724.1_Silent_p.I165I	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	166	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGATAATTCTGATAAACATCA	0.418000													11	60					0	0	0.010729	0	0
SF3A1	10291	broad.mit.edu	37	22	30740986	30740986	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:30740986T>C	ENST00000439242.1	-	4	523	c.392A>G	c.(391-393)gAc>gGc	p.D131G	SF3A1_ENST00000215793.7_Missense_Mutation_p.D196G	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	151					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCGGAGAAAGTCAAACTGGTA	0.572000													59	61					0	0	0.014410	0	0
CCNF	899	broad.mit.edu	37	16	2481210	2481210	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:2481210C>G	ENST00000397066.4	+	2	184	c.96C>G	c.(94-96)atC>atG	p.I32M		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	32	F-box.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACCTGACCATCTTGAGTCTCC	0.478000													11	81					0	0	0.010729	0	0
CHCHD1	118487	broad.mit.edu	37	10	75542100	75542100	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:75542100G>C	ENST00000372837.3	+	2	173	c.144G>C	c.(142-144)gaG>gaC	p.E48D	CHCHD1_ENST00000372833.5_Missense_Mutation_p.E48D			Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	48	CHCH.					nucleus				breast(1)	1	Prostate(51;0.0112)					GCATCACGGAGATGTCGGTGA	0.602000													16	41					0	0	0.004007	0	0
PTPRO	5800	broad.mit.edu	37	12	15637110	15637110	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:15637110A>T	ENST00000281171.4	+	2	608	c.278A>T	c.(277-279)tAt>tTt	p.Y93F	PTPRO_ENST00000543886.1_Missense_Mutation_p.Y93F|PTPRO_ENST00000348962.2_Missense_Mutation_p.Y93F	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	93	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGCCTTTATTATATAATCACT	0.373000													9	39					0	0	0.006214	0	0
SLIT2	9353	broad.mit.edu	37	4	20533668	20533668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:20533668C>T	ENST00000504154.1	+	17	1927	c.1675C>T	c.(1675-1677)Caa>Taa	p.Q559*	SLIT2_ENST00000503823.1_Nonsense_Mutation_p.Q551*|SLIT2_ENST00000503837.1_Nonsense_Mutation_p.Q555*|SLIT2_ENST00000273739.5_Nonsense_Mutation_p.Q563*	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	559					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAACTTCCTCAATTACGTAA	0.294000													7	14					0	0	0.003080	0	0
KCNK7	10089	broad.mit.edu	37	11	65360568	65360568	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:65360568C>T	ENST00000340313.4	-	3	1055	c.832G>A	c.(832-834)Gag>Aag	p.E278K	KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	278						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						CCTTGGTCCTCAGCAGTCACA	0.627000													4	20					0	0	0.009096	0	0
STAP2	55620	broad.mit.edu	37	19	4325283	4325283	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:4325283G>A	ENST00000600324.1	-	11	1069	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Silent_p.V334V	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	334	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCAGGATGACTGGCCAAC	0.562000													8	8					0	0	0.003080	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3592883	3592883	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:3592883G>A	ENST00000550383.1	-	7	844	c.656C>T	c.(655-657)tCa>tTa	p.S219L	P2RX5_ENST00000552276.1_Missense_Mutation_p.S218L|P2RX5_ENST00000552050.1_Missense_Mutation_p.S159L|P2RX5_ENST00000225328.5_Missense_Mutation_p.S219L|P2RX5_ENST00000551178.1_Missense_Mutation_p.S194L|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000547178.1_Missense_Mutation_p.S218L|P2RX5_ENST00000435558.1_Missense_Mutation_p.S219L|P2RX5_ENST00000345901.3_Missense_Mutation_p.S195L																							AAAGTGGCATGATTTCAGGAA	0.567000													22	86					0	0	0.005443	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47241632	47241632	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:47241632G>A	ENST00000300404.2	+	8	1188	c.1129G>A	c.(1129-1131)Ggg>Agg	p.G377R	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.G317R|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.G291R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	377					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TATGCCCTTTGGGAAGGTATG	0.532000													21	143					0	0	0.014323	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453287	50453287	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:50453287C>T	ENST00000447370.2	-	11	2127	c.2037G>A	c.(2035-2037)ctG>ctA	p.L679L	SIGLEC11_ENST00000426971.2_Silent_p.L583L|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	679					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTGGGCCCCTCAGGGGCTGTC	0.612000													6	19					0	0	0.001168	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559035	129559035	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:129559035G>A	ENST00000422113.2	-	9	3011	c.2685C>T	c.(2683-2685)ccC>ccT	p.P895P	TMEM132D_ENST00000389441.4_Silent_p.P433P	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	895						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CATTGCTTCTGGGGAGGTCCA	0.517000													17	62					0	0	0.007413	0	0
SLC4A2	6522	broad.mit.edu	37	7	150764008	150764008	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:150764008G>C	ENST00000485713.1	+	7	1934	c.894G>C	c.(892-894)caG>caC	p.Q298H	SLC4A2_ENST00000310317.5_Missense_Mutation_p.Q216H|SLC4A2_ENST00000392826.2_Missense_Mutation_p.Q289H|SLC4A2_ENST00000461735.1_Missense_Mutation_p.Q284H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.Q298H	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	298	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTCCACACAGAGTGGCCGAG	0.657000													12	26					0	0	0.001855	0	0
CLEC17A	388512	broad.mit.edu	37	19	14707757	14707757	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:14707757A>G	ENST00000547437.1	+	9	592	c.515A>G	c.(514-516)tAc>tGc	p.Y172C	CLEC17A_ENST00000417570.1_Missense_Mutation_p.Y172C|CLEC17A_ENST00000397439.2_Missense_Mutation_p.Y155C	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	172						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										TGGATGGTGTACCTGTGTCTG	0.587000													4	10					0	0	0.009096	0	0
SYN2	6854	broad.mit.edu	37	3	12046037	12046037	+	RNA	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:12046037C>T	ENST00000432424.2	+	0	158							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGATGAACTTCCTGCGGCGCC	0.687000													6	8					0	0	0.003080	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655967	46655967	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:46655967G>A	ENST00000253255.5	-	1	3252	c.3253C>T	c.(3253-3255)Cgt>Tgt	p.R1085C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1085					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.R1085C(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGACAAAACGAGGTGCCTGC	0.502000													8	31					0	0	0.003080	0	0
CCDC141	285025	broad.mit.edu	37	2	179718348	179718348	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:179718348G>C	ENST00000420890.2	-	20	3181	c.3064C>G	c.(3064-3066)Cat>Gat	p.H1022D	CCDC141_ENST00000295723.5_Missense_Mutation_p.H447D	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	447							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TACCAAAAATGACACTAAATT	0.358000													17	55					0	0	0.006122	0	0
PLIN1	5346	broad.mit.edu	37	15	90213226	90213226	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:90213226C>G	ENST00000300055.5	-	5	748	c.583G>C	c.(583-585)Gac>Cac	p.D195H	PLIN1_ENST00000430628.2_Missense_Mutation_p.D195H	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	195					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TCTTCCTTGTCTGGAGGGAGG	0.602000													8	12					0	0	0.003080	0	0
FSHR	2492	broad.mit.edu	37	2	49190117	49190117	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:49190117G>A	ENST00000406846.2	-	10	1962	c.1843C>T	c.(1843-1845)Cac>Tac	p.H615Y	FSHR_ENST00000304421.4_Missense_Mutation_p.H589Y|FSHR_ENST00000541117.1_Missense_Mutation_p.H351Y|FSHR_ENST00000346173.3_Missense_Mutation_p.H553Y	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	615					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTGATGGGGTGAAACAGAACC	0.483000									Gonadal Dysgenesis, 46 XX				8	59					0	0	0.006214	0	0
TRPS1	7227	broad.mit.edu	37	8	116632009	116632009	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:116632009T>G	ENST00000395715.3	-	3	893	c.316A>C	c.(316-318)Aag>Cag	p.K106Q	TRPS1_ENST00000519674.1_Missense_Mutation_p.K93Q|TRPS1_ENST00000220888.5_Missense_Mutation_p.K93Q|TRPS1_ENST00000520276.1_Missense_Mutation_p.K97Q|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	93					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCCTCCCTTACTGGGGCTT	0.473000									Langer-Giedion syndrome				11	75					0	0	0.010729	0	0
MCFD2	90411	broad.mit.edu	37	2	47136169	47136169	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:47136169C>G	ENST00000409105.1	-	3	321	c.142G>C	c.(142-144)Gac>Cac	p.D48H	MCFD2_ENST00000409800.1_Intron|MCFD2_ENST00000409973.1_Missense_Mutation_p.D48H|MCFD2_ENST00000409207.1_Missense_Mutation_p.D48H|MCFD2_ENST00000409218.1_Missense_Mutation_p.D48H|MCFD2_ENST00000444761.2_Intron|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000319466.4_Missense_Mutation_p.D48H	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	48					post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	TACTCTTGGTCGTGCACTGTG	0.622000													16	78					0	0	0.008871	0	0
PSG2	5670	broad.mit.edu	37	19	43579684	43579684	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:43579684G>T	ENST00000406487.1	-	3	629	c.531C>A	c.(529-531)agC>agA	p.S177R		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	177	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ACCACTGGTAGCTTGTGTCCG	0.502000													59	224					7.41606e-26	9.25255e-26	0.014410	1	0
KIF21B	23046	broad.mit.edu	37	1	200965360	200965360	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:200965360C>T	ENST00000332129.2	-	15	2557	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	KIF21B_ENST00000422435.2_Silent_p.K747K|KIF21B_ENST00000461742.2_Silent_p.K747K|KIF21B_ENST00000360529.5_Silent_p.K747K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	747					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGGCCTGTAGCTTCTTCAGCT	0.607000													16	269					0	0	0.007413	0	0
MUC15	143662	broad.mit.edu	37	11	26582638	26582638	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:26582638T>A	ENST00000436318.2	-	4	1193	c.1060A>T	c.(1060-1062)Ata>Tta	p.I354L	ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.I304L|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.I354L|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.I327L|MUC15_ENST00000527569.1_Missense_Mutation_p.I304L			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	327						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGTGGAGGTATGTCATCCATA	0.388000													16	55					0	0	0.010504	0	0
SLC12A1	6557	broad.mit.edu	37	15	48551426	48551426	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:48551426C>A	ENST00000396577.3	+	17	2287	c.2072C>A	c.(2071-2073)cCc>cAc	p.P691H	SLC12A1_ENST00000380993.3_Missense_Mutation_p.P691H|SLC12A1_ENST00000558405.1_Missense_Mutation_p.P691H	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	691					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACAGGGGGACCCATGACAAGA	0.493000													22	83					4.26978e-12	4.89245e-12	0.003330	1	0
UGT2B28	54490	broad.mit.edu	37	4	70156375	70156375	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:70156375C>A	ENST00000335568.5	+	5	1158	c.1156C>A	c.(1156-1158)Cat>Aat	p.H386N	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	386					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGCAATCTACCATGGGATCCC	0.428000													39	442					8.16904e-11	9.23214e-11	0.007835	1	0
ANKFN1	162282	broad.mit.edu	37	17	54534307	54534307	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:54534307G>A	ENST00000566473.2	+	11	1302	c.1302G>A	c.(1300-1302)gtG>gtA	p.V434V	ANKFN1_ENST00000318698.2_Silent_p.V434V			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	434										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACAAGTTTGTGAAGACCTTAA	0.383000													4	48					0	0	0.001168	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1881965	1881965	+	Splice_Site	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:1881965G>C	ENST00000518288.1	+	27	3314		c.e27-1		ARHGEF10_ENST00000398564.1_Splice_Site|ARHGEF10_ENST00000520359.1_Splice_Site|ARHGEF10_ENST00000349830.3_Splice_Site|ARHGEF10_ENST00000262112.6_Splice_Site			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10						centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTTCTTTTAAGATGGATCCTG	0.418000													21	73					0	0	0.003330	0	0
PRRC2C	23215	broad.mit.edu	37	1	171544252	171544252	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:171544252A>G	ENST00000367742.3	+	25	7182	c.6940A>G	c.(6940-6942)Aca>Gca	p.T2314A	PRRC2C_ENST00000392078.3_Missense_Mutation_p.T2314A|PRRC2C_ENST00000426496.2_Missense_Mutation_p.T2247A|PRRC2C_ENST00000338920.4_Missense_Mutation_p.T2312A			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2312							protein C-terminus binding										AGTCACTCCTACAGCATCACT	0.388000													3	34					0	0	0.009096	0	0
OR10X1	128367	broad.mit.edu	37	1	158548974	158548974	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:158548974G>T	ENST00000368150.1	-	1	715	c.716C>A	c.(715-717)tCt>tAt	p.S239Y		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGGACAGTAGAAATAATGAA	0.468000													71	60					1.48005e-37	1.88942e-37	0.014410	1	0
FHOD3	80206	broad.mit.edu	37	18	34273246	34273246	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr18:34273246G>C	ENST00000257209.4	+	14	1693	c.1571G>C	c.(1570-1572)aGa>aCa	p.R524T	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.R486T|FHOD3_ENST00000590592.1_Missense_Mutation_p.R699T|FHOD3_ENST00000359247.4_Missense_Mutation_p.R507T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	507					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGCCGGGGCAGAGCCGACCTC	0.567000													4	23					0	0	0.000602	0	0
ZHX3	23051	broad.mit.edu	37	20	39832861	39832861	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:39832861G>A	ENST00000309060.3	-	4	1111	c.696C>T	c.(694-696)ttC>ttT	p.F232F	ZHX3_ENST00000432768.2_Silent_p.F232F|ZHX3_ENST00000560361.1_Silent_p.F232F|ZHX3_ENST00000544979.2_Silent_p.F232F|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000540170.1_Silent_p.F232F|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.F232F			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	232					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CCCCATTGATGAAGGAATGGT	0.557000													17	93					0	0	0.004990	0	0
COL9A1	1297	broad.mit.edu	37	6	70964208	70964208	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:70964208G>A	ENST00000357250.6	-	25	1848	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.P321S|COL9A1_ENST00000320755.7_Missense_Mutation_p.P321S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	564	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GCATCACCAGGAGGCCCAGGT	0.388000													17	67					0	0	0.010504	0	0
EFCAB7	84455	broad.mit.edu	37	1	64021097	64021097	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:64021097G>A	ENST00000371088.4	+	9	1371	c.1125G>A	c.(1123-1125)agG>agA	p.R375R	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	375			R -> K (in dbSNP:rs2273367).				calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CTGGCTGTAGGCTGAGGAAAA	0.353000													23	71					0	0	0.003330	0	0
ALKBH1	8846	broad.mit.edu	37	14	78161119	78161119	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:78161119C>G	ENST00000216489.3	-	3	432	c.417G>C	c.(415-417)gaG>gaC	p.E139D	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	139					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GATCTTGGGTCTCTTCTTTAG	0.428000													38	165					0	0	0.007835	0	0
KRT80	144501	broad.mit.edu	37	12	52574327	52574327	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:52574327G>A	ENST00000313234.5	-	4	733	c.636C>T	c.(634-636)ttC>ttT	p.F212F	KRT80_ENST00000394815.2_Silent_p.F212F	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	212	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TCAACTCCACGAAGCTCTCCA	0.547000													26	105					0	0	0.004656	0	0
DHX9	1660	broad.mit.edu	37	1	182850485	182850485	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:182850485A>T	ENST00000367549.3	+	23	2821	c.2711A>T	c.(2710-2712)cAt>cTt	p.H904L	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	904					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GGCTATATCCATCGAAATTTT	0.448000													8	163					0	0	0.004482	0	0
DDX41	51428	broad.mit.edu	37	5	176939118	176939118	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:176939118C>G	ENST00000507955.1	-	16	2234	c.1711G>C	c.(1711-1713)Gag>Cag	p.E571Q		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	571					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGCATGGACTCATCCCCGCAA	0.617000													19	97					0	0	0.012319	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570248	9570248	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr18:9570248G>A	ENST00000400556.3	-	11	1553	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	PPP4R1_ENST00000400555.3_Missense_Mutation_p.P477S	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	494					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GGAGAACTGGGCACAGGGCCC	0.478000													25	41					0	0	0.002780	0	0
TASP1	55617	broad.mit.edu	37	20	13550200	13550200	+	Silent	SNP	T	T	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:13550200T>G	ENST00000337743.4	-	7	642	c.522A>C	c.(520-522)gcA>gcC	p.A174A	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	174					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CATGATCTACTGCCCATCTGT	0.323000													16	53					0	0	0.010504	0	0
GRM1	2911	broad.mit.edu	37	6	146755353	146755353	+	Silent	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:146755353C>A	ENST00000361719.2	+	9	3476	c.3006C>A	c.(3004-3006)ctC>ctA	p.L1002L	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Silent_p.L1002L|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1002					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGACCCCCCTCTTCCTGGCCG	0.687000													50	79					3.19069e-20	3.86395e-20	0.014410	1	0
NRXN1	9378	broad.mit.edu	37	2	50574003	50574003	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:50574003C>A	ENST00000342183.5	-	1	889	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000405472.3_Intron	NM_138735.2	NP_620072.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	0					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCAGGCGCCCCCCTGcgccg	0.756000													5	6					1.23904e-05	1.31898e-05	0.000602	1	0
BRAF	673	broad.mit.edu	37	7	140482954	140482954	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:140482954G>C	ENST00000288602.6	-	10	1241	c.1181C>G	c.(1180-1182)tCa>tGa	p.S394*		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	394					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ACCTGTGGTTGATCCTAAATT	0.408000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				7	33					0	0	0.003080	0	0
GABRR1	2569	broad.mit.edu	37	6	89907945	89907945	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:89907945G>A	ENST00000435811.1	-	4	769	c.315C>T	c.(313-315)ctC>ctT	p.L105L	GABRR1_ENST00000369451.3_Silent_p.L35L|GABRR1_ENST00000454853.2_Silent_p.L122L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	122					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GCCTCAGGTAGAGGGTCATCG	0.557000													45	165					0	0	0.013114	0	0
GTF2H4	2968	broad.mit.edu	37	6	30880223	30880223	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:30880223C>T	ENST00000259895.4	+	11	1300	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	GTF2H4_ENST00000376316.2_Silent_p.I359I	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	359					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CCAGTGGCATCACAGCCCAGC	0.602000								Nucleotide excision repair (NER)					33	72					0	0	0.003755	0	0
NOL4	8715	broad.mit.edu	37	18	31599332	31599332	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr18:31599332G>A	ENST00000261592.5	-	6	1303	c.1006C>T	c.(1006-1008)Cta>Tta	p.L336L	NOL4_ENST00000269185.4_Silent_p.L222L|NOL4_ENST00000535475.1_Silent_p.L181L|NOL4_ENST00000589544.1_Silent_p.L336L|NOL4_ENST00000535384.1_Silent_p.L51L|NOL4_ENST00000538587.1_Silent_p.L262L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	336						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCAGAAATTAGAAGATTCTTA	0.413000													13	33					0	0	0.002450	0	0
RPA4	29935	broad.mit.edu	37	X	96139888	96139888	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:96139888C>T	ENST00000373040.3	+	1	982	c.579C>T	c.(577-579)aaC>aaT	p.N193N	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	193					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CTGGGGATAACGATGAGAGTC	0.502000								Other identified genes with known or suspected DNA repair function					22	65					0	0	0.002780	0	0
GBA	2629	broad.mit.edu	37	1	155210461	155210461	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:155210461G>C	ENST00000327247.5	-	3	307	c.75C>G	c.(73-75)ctC>ctG	p.L25L	GBA_ENST00000536770.1_Silent_p.L25L|GBA_ENST00000427500.2_Silent_p.L25L|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000428024.2_Intron|GBA_ENST00000368373.3_Silent_p.L25L	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	25					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GCAATCCTGTGAGGCTGCCAG	0.542000									Gaucher disease type I				28	352					0	0	0.009535	0	0
RP1L1	94137	broad.mit.edu	37	8	10465806	10465806	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:10465806C>T	ENST00000382483.3	-	4	6025	c.5802G>A	c.(5800-5802)gaG>gaA	p.E1934E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1934					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CACCTTCTGACTCTGGCTCGT	0.602000													46	121					0	0	0.014410	0	0
SPPL2B	56928	broad.mit.edu	37	19	2337592	2337592	+	RNA	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:2337592C>T	ENST00000452401.2	+	0	417				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		CAGCGGAGCACGCGGGCTGCT	0.692000													7	16					0	0	0.001984	0	0
ABCC3	8714	broad.mit.edu	37	17	48736659	48736659	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:48736659G>A	ENST00000285238.8	+	7	816	c.736G>A	c.(736-738)Gag>Aag	p.E246K	ABCC3_ENST00000427699.1_Missense_Mutation_p.E246K	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	246					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTAAAGGAAGAGGACAGATC	0.642000													15	107					0	0	0.004007	0	0
COL25A1	84570	broad.mit.edu	37	4	110222978	110222978	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:110222978G>C	ENST00000399132.1	-	2	728	c.198C>G	c.(196-198)ctC>ctG	p.L66L	COL25A1_ENST00000399127.1_Silent_p.L66L|COL25A1_ENST00000399126.1_Silent_p.L66L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	66						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGGCGGATTCGAGAGCGGCGA	0.602000													10	162					0	0	0.008291	0	0
PIGP	51227	broad.mit.edu	37	21	38444733	38444733	+	Splice_Site	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr21:38444733C>T	ENST00000464265.1	-	1	378		c.e1+1		PIGP_ENST00000399103.1_Splice_Site|PIGP_ENST00000360525.3_Splice_Site|PIGP_ENST00000399102.1_Splice_Site|PIGP_ENST00000399098.1_Splice_Site|PIGP_ENST00000329667.3_Splice_Site	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				AAAGTACTTACTGAAGCCAAA	0.438000													20	100					0	0	0.010504	0	0
OBSCN	84033	broad.mit.edu	37	1	228560439	228560439	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:228560439C>T	ENST00000570156.2	+	105	24905	c.24831C>T	c.(24829-24831)ttC>ttT	p.F8277F	OBSCN_ENST00000366707.4_Silent_p.F4954F|OBSCN_ENST00000422127.1_Silent_p.F7320F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7320					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCTCCCATTCGAGTTTATGA	0.602000													3	24					0	0	0.009096	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921487	159921487	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:159921487C>G	ENST00000368093.3	-	4	950	c.834G>C	c.(832-834)ttG>ttC	p.L278F	SLAMF9_ENST00000368092.3_Missense_Mutation_p.L187F|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	278						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTCCTTCCTCAATTTCATTC	0.512000													19	157					0	0	0.012319	0	0
LAX1	54900	broad.mit.edu	37	1	203740522	203740522	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:203740522T>C	ENST00000442561.2	+	3	617	c.227T>C	c.(226-228)gTc>gCc	p.V76A	LAX1_ENST00000367217.5_Missense_Mutation_p.V60A|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	76					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGAGTTACCGTCATGCCCTTG	0.493000													26	337					0	0	0.005443	0	0
COL7A1	1294	broad.mit.edu	37	3	48607742	48607742	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:48607742C>A	ENST00000328333.8	-	97	7513	c.7406G>T	c.(7405-7407)gGg>gTg	p.G2469V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2437V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2469	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTCGGGGCCCAGGCAGCCC	0.627000													26	39					9.22233e-05	9.69226e-05	0.004656	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58563859	58563859	+	Splice_Site	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:58563859C>T	ENST00000282326.1	+	5	714	c.465_splice	c.e5-1	p.A156_splice		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	156					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A156E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCATTCTAGGCGTCTGAGCTG	0.617000													15	56					0	0	0.006122	0	0
KIAA2026	158358	broad.mit.edu	37	9	5988524	5988524	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:5988524C>T	ENST00000399933.3	-	2	614	c.615G>A	c.(613-615)acG>acA	p.T205T	KIAA2026_ENST00000381461.2_Silent_p.T205T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	205										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAACTGCTATCGTTGTCTTTT	0.443000													4	20					0	0	0.000602	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68273273	68273273	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:68273273C>G	ENST00000347230.4	-	6	1144	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E336Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	336					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAATCTGCTCGAGGAAGTGT	0.498000													15	31					0	0	0.002450	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922201	159922201	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:159922201C>A	ENST00000368093.3	-	3	631	c.515G>T	c.(514-516)cGg>cTg	p.R172L	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	172	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTATCCCCCCGGGAGAGCCA	0.577000													125	116					5.08508e-67	6.5168e-67	0.014410	1	0
MSH3	4437	broad.mit.edu	37	5	80171579	80171579	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:80171579C>G	ENST00000265081.6	+	24	3392	c.3312C>G	c.(3310-3312)ctC>ctG	p.L1104L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1104					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAAAGAGACTCAAGTATTTTG	0.363000								Mismatch excision repair (MMR)					9	45					0	0	0.010729	0	0
MLH1	4292	broad.mit.edu	37	3	37053541	37053541	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:37053541G>A	ENST00000231790.2	+	8	844	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.A112T|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	210					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ACTACCCAATGCCTCAACCGT	0.383000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				14	54					0	0	0.004990	0	0
SIM1	6492	broad.mit.edu	37	6	100838702	100838702	+	Silent	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:100838702G>T	ENST00000369208.3	-	12	2618	c.1836C>A	c.(1834-1836)ccC>ccA	p.P612P	SIM1_ENST00000262901.4_Silent_p.P612P			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	612	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTGTTGGTGGGGGCTGTTGGT	0.498000													37	62					2.42023e-17	2.89376e-17	0.003271	1	0
CASP2	835	broad.mit.edu	37	7	142988758	142988758	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:142988758C>T	ENST00000310447.5	+	2	441	c.200C>T	c.(199-201)aCc>aTc	p.T67I	CASP2_ENST00000392925.2_Missense_Mutation_p.T67I|CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	67	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GACATCATCACCTTGGAAATG	0.438000													21	124					0	0	0.012319	0	0
CDH8	1006	broad.mit.edu	37	16	61761011	61761011	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:61761011C>A	ENST00000577390.1	-	9	2477	c.1523G>T	c.(1522-1524)gGa>gTa	p.G508V	CDH8_ENST00000584337.1_Missense_Mutation_p.G508V|CDH8_ENST00000299345.6_Missense_Mutation_p.G508V|CDH8_ENST00000577730.1_Missense_Mutation_p.G508V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	508	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCCGGGTTTTCCATTTTCACA	0.378000													34	66					3.21399e-22	3.92822e-22	0.004878	1	0
SCG3	29106	broad.mit.edu	37	15	51975452	51975452	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:51975452A>T	ENST00000220478.3	+	4	621	c.218A>T	c.(217-219)gAt>gTt	p.D73V	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	73					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)		TCTTTTGTTGATAACTTGAAC	0.363000													65	102					0	0	0.014410	0	0
EXOG	9941	broad.mit.edu	37	3	38537932	38537932	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:38537932T>C	ENST00000287675.5	+	1	170	c.74T>C	c.(73-75)gTa>gCa	p.V25A	EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.V25A	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	25						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GCTGGGGCTGTAGTGGGCGCT	0.637000											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	25					0	0	0.012319	0	0
FLI1	2313	broad.mit.edu	37	11	128628062	128628062	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:128628062G>A	ENST00000429175.2	+	2	335	c.71G>A	c.(70-72)gGa>gAa	p.G24E	FLI1_ENST00000344954.6_5'UTR|FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000534087.1_5'UTR|FLI1_ENST00000525560.1_5'UTR	NM_002017.3	NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	24					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCAGCGTACGGAGCGGCAGCC	0.627000			T	EWSR1	Ewing sarcoma								4	6					0	0	0.009096	0	0
ABHD16A	7920	broad.mit.edu	37	6	31671053	31671053	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:31671053C>T	ENST00000395952.3	-	1	168	c.6G>A	c.(4-6)gcG>gcA	p.A2A	ABHD16A_ENST00000538874.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	2						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TCAGCAGCTTCGCCATGGCCC	0.692000													6	39					0	0	0.001168	0	0
SCNN1D	6339	broad.mit.edu	37	1	1221509	1221509	+	Silent	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:1221509G>T	ENST00000338555.2	+	4	1414	c.270G>T	c.(268-270)ctG>ctT	p.L90L	SCNN1D_ENST00000325425.8_Silent_p.L156L|SCNN1D_ENST00000379116.5_Silent_p.L254L|SCNN1D_ENST00000400928.3_Silent_p.L90L					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTGGGGGCTGCTGTCCCTGG	0.682000													7	12					0.00198382	0.00204581	0.001984	1	0
GRIN2B	2904	broad.mit.edu	37	12	13720004	13720004	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:13720004C>A	ENST00000279593.3	-	12	2762	c.2553G>T	c.(2551-2553)atG>atT	p.M851I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	851					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AACAGACACCCATAAAGCAAT	0.498000													19	42					1.67942e-08	1.85354e-08	0.006122	1	0
CDH10	1008	broad.mit.edu	37	5	24509699	24509699	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:24509699G>T	ENST00000264463.4	-	7	1739	c.1232C>A	c.(1231-1233)cCa>cAa	p.P411Q		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	411	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATAGAATCTGGGTCCCTTGC	0.473000										HNSCC(23;0.051)			13	88					8.60227e-14	1.00309e-13	0.004007	1	0
AMFR	267	broad.mit.edu	37	16	56423102	56423102	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:56423102A>C	ENST00000290649.5	-	9	1481	c.1271T>G	c.(1270-1272)tTc>tGc	p.F424C		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	424					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CTAACCATCGAAATGGAAGAA	0.418000													9	52					0	0	0.008291	0	0
RYR3	6263	broad.mit.edu	37	15	34018589	34018589	+	Silent	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:34018589C>A	ENST00000389232.4	+	46	6985	c.6915C>A	c.(6913-6915)ctC>ctA	p.L2305L	RYR3_ENST00000415757.3_Silent_p.L2305L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2305	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTTCCAGCTCATCCAGACAG	0.547000													6	12					0.00198382	0.00204581	0.001984	1	0
PHF1	5252	broad.mit.edu	37	6	33382112	33382112	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:33382112C>G	ENST00000374516.3	+	9	1116	c.845C>G	c.(844-846)tCt>tGt	p.S282C	PHF1_ENST00000374512.3_Missense_Mutation_p.S282C	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	282					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)				CCCTTCACTTCTGAGAATTGG	0.493000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	88					0	0	0.000602	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734961	12734961	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:12734961G>T	ENST00000380682.1	+	15	2889	c.2383G>T	c.(2383-2385)Gag>Tag	p.E795*		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	795					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGATGACAATGAGGATGACTT	0.562000													36	123					1.30015e-28	1.63137e-28	0.004878	1	0
TAF1L	138474	broad.mit.edu	37	9	32632473	32632473	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:32632473C>T	ENST00000242310.4	-	1	3194	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1035					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTTTTTAATCTCTTCCTCAG	0.483000													40	204					0	0	0.007835	0	0
RYR2	6262	broad.mit.edu	37	1	237801676	237801676	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:237801676G>T	ENST00000366574.2	+	45	7129	c.6812G>T	c.(6811-6813)gGt>gTt	p.G2271V	RYR2_ENST00000360064.6_Missense_Mutation_p.G2269V|RYR2_ENST00000542537.1_Missense_Mutation_p.G2255V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2271	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATTTGGCTGGTTGTGGACTG	0.403000													36	101					4.3181e-19	5.20063e-19	0.013726	1	0
NUP43	348995	broad.mit.edu	37	6	150048227	150048227	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:150048227C>G	ENST00000340413.2	-	8	1097	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.E245Q|NUP43_ENST00000460354.2_Missense_Mutation_p.E341Q	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	341					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CTTGTGATTTCAATTCGGTCT	0.418000													10	68					0	0	0.008291	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211210	107211210	+	RNA	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:107211210C>T	ENST00000390636.2	-	0	158																											AAGCCTCCCCCGGACTCCACC	0.597000													11	130					0	0	0.001855	0	0
MRPS30	10884	broad.mit.edu	37	5	44809664	44809664	+	Splice_Site	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:44809664C>T	ENST00000507110.1	+	1	638	c.601_splice	c.e1+1	p.L200_splice		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	200					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					CTGCCGCCCTCGGTGAGCCTT	0.607000													10	61					0	0	0.013537	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482539	152482539	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:152482539C>G	ENST00000356661.5	-	3	690	c.472G>C	c.(472-474)Gac>Cac	p.D158H		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	158	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTTCACGTCAATGCCAAAG	0.502000													38	105					0	0	0.005524	0	0
SLIT3	6586	broad.mit.edu	37	5	168233492	168233492	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:168233492C>G	ENST00000519560.1	-	9	1313	c.894G>C	c.(892-894)ttG>ttC	p.L298F	SLIT3_ENST00000332966.8_Missense_Mutation_p.L298F|SLIT3_ENST00000404867.3_Missense_Mutation_p.L298F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	298	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAATCTCCATCAAGCCCTTTC	0.587000													17	68					0	0	0.007413	0	0
FREM1	158326	broad.mit.edu	37	9	14740193	14740193	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:14740193G>T	ENST00000380881.4	-	37	7112	c.6297C>A	c.(6295-6297)caC>caA	p.H2099Q	FREM1_ENST00000380894.1_Missense_Mutation_p.H634Q|FREM1_ENST00000422223.2_Missense_Mutation_p.H2098Q|FREM1_ENST00000380880.3_Missense_Mutation_p.H2098Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2098	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCACCGCATGTGCTGCCTGG	0.473000													36	49					2.26627e-22	2.78019e-22	0.007835	1	0
AHCYL2	23382	broad.mit.edu	37	7	129046264	129046264	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:129046264G>C	ENST00000325006.3	+	10	1306	c.1252G>C	c.(1252-1254)Gtg>Ctg	p.V418L	AHCYL2_ENST00000531335.2_Missense_Mutation_p.V337L|AHCYL2_ENST00000474594.1_Missense_Mutation_p.V315L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.V417L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.V315L|AHCYL2_ENST00000446212.1_Missense_Mutation_p.V316L	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	418					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGGCTCCATTGTGTATGTAAC	0.502000													16	80					0	0	0.007413	0	0
ACTG1	71	broad.mit.edu	37	17	79478006	79478006	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:79478006C>T	ENST00000575842.1	-	4	1357	c.931G>A	c.(931-933)Gac>Aac	p.D311N	ACTG1_ENST00000575087.1_Missense_Mutation_p.D311N|ACTG1_ENST00000573283.1_Missense_Mutation_p.D311N|ACTG1_ENST00000331925.2_Missense_Mutation_p.D311N			P63261	ACTG_HUMAN	actin, gamma 1	311					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TGCATCCTGTCGGCAATGCCC	0.612000													15	85					0	0	0.003163	0	0
DSP	1832	broad.mit.edu	37	6	7583579	7583579	+	Silent	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:7583579A>G	ENST00000379802.3	+	24	6425	c.6084A>G	c.(6082-6084)aaA>aaG	p.K2028K	DSP_ENST00000418664.2_Silent_p.K1429K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2028	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTAAGGAAAAATACTCTTTGG	0.483000													28	38					0	0	0.005443	0	0
TULP4	56995	broad.mit.edu	37	6	158914615	158914615	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:158914615G>C	ENST00000367097.3	+	10	2999	c.1642G>C	c.(1642-1644)Gag>Cag	p.E548Q	TULP4_ENST00000367094.2_Missense_Mutation_p.E548Q	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	548					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GATCAGCATTGAGGCCCGCAA	0.657000													12	70					0	0	0.010729	0	0
CCDC158	339965	broad.mit.edu	37	4	77292610	77292610	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:77292610T>A	ENST00000388914.3	-	9	1261	c.1109A>T	c.(1108-1110)cAg>cTg	p.Q370L		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	370										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGATTCCTGACTGAATTG	0.373000													55	16					0	0	0.014410	0	0
AMER1	139285	broad.mit.edu	37	X	63411898	63411898	+	Silent	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:63411898C>A	ENST00000330258.3	-	2	1541	c.1269G>T	c.(1267-1269)ctG>ctT	p.L423L	AMER1_ENST00000403336.1_Silent_p.L423L|AMER1_ENST00000374869.3_Silent_p.L423L	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.L423L(4)									GATGGTAGCCCAGGTTCATAT	0.522000													22	57					1.39806e-14	1.64477e-14	0.008361	1	0
SYNPO	11346	broad.mit.edu	37	5	150028936	150028936	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:150028936C>T	ENST00000394243.1	+	3	2205	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	SYNPO_ENST00000519664.1_Silent_p.L367L|SYNPO_ENST00000522122.1_Silent_p.L611L|SYNPO_ENST00000307662.4_Silent_p.L367L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	611					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGGCATTCTGGAGGAGTC	0.582000													13	75					0	0	0.004007	0	0
SRMS	6725	broad.mit.edu	37	20	62178612	62178612	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:62178612C>T	ENST00000217188.1	-	1	245	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	69	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACACTCAGCTCCCCGCCACAC	0.697000													4	14					0	0	0.001168	0	0
SULF1	23213	broad.mit.edu	37	8	70550826	70550826	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:70550826G>C	ENST00000260128.4	+	20	3091	c.2374G>C	c.(2374-2376)Gag>Cag	p.E792Q	SULF1_ENST00000419716.3_Missense_Mutation_p.E792Q|SULF1_ENST00000458141.2_Missense_Mutation_p.E792Q|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E792Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	792					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCTTTTCTGTGAGTTTGCTAC	0.353000													13	62					0	0	0.013537	0	0
PLCH2	9651	broad.mit.edu	37	1	2436043	2436043	+	Silent	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:2436043C>A	ENST00000419816.2	+	22	3916	c.3642C>A	c.(3640-3642)ccC>ccA	p.P1214P	PLCH2_ENST00000378488.3_Silent_p.P1178P|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Silent_p.P1214P|PLCH2_ENST00000449969.1_3'UTR			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1214					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGCGGCCTCCCATACCTGACG	0.687000													22	46					7.41877e-09	8.21542e-09	0.012319	1	0
MORF4L2	9643	broad.mit.edu	37	X	102931253	102931253	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:102931253T>A	ENST00000423833.2	-	3	1928	c.703A>T	c.(703-705)Att>Ttt	p.I235F	MORF4L2_ENST00000433176.2_Missense_Mutation_p.I235F|MORF4L2_ENST00000451301.1_Missense_Mutation_p.I235F|MORF4L2_ENST00000360458.1_Missense_Mutation_p.I235F|MORF4L2_ENST00000372620.1_Missense_Mutation_p.I117F|MORF4L2_ENST00000422154.2_Missense_Mutation_p.I235F|MORF4L2_ENST00000441076.2_Missense_Mutation_p.I235F			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	235					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						ATTGCTCCAATTCTTACAAAT	0.438000													8	42					0	0	0.003080	0	0
FAM178A	55719	broad.mit.edu	37	10	102719322	102719322	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:102719322G>C	ENST00000370269.3	+	19	3687	c.3555G>C	c.(3553-3555)ttG>ttC	p.L1185F	FAM178A_ENST00000238961.3_Intron	NM_001136123.1	NP_001129595.1	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	0																	CATACTGTTTGAAATAAAATA	0.318000													8	26					0	0	0.003080	0	0
SULT1E1	6783	broad.mit.edu	37	4	70707720	70707720	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:70707720C>T	ENST00000226444.3	-	8	989	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	293					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCTTAGATCTCAGTTCGAAAC	0.303000													10	84					0	0	0.008291	0	0
BBOX1	8424	broad.mit.edu	37	11	27141314	27141314	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:27141314C>A	ENST00000263182.3	+	7	1126	c.758C>A	c.(757-759)tCc>tAc	p.S253Y	BBOX1_ENST00000525090.1_Missense_Mutation_p.S253Y|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.S253Y|BBOX1_ENST00000528583.1_Missense_Mutation_p.S253Y|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	253					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CAGATTTTGTCCTCTACCTTT	0.328000													13	42					4.93089e-13	5.72956e-13	0.002450	1	0
RSC1A1	6248	broad.mit.edu	37	1	15987288	15987288	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:15987288G>C	ENST00000345034.1	+	1	925	c.925G>C	c.(925-927)Gat>Cat	p.D309H	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	309					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCACTCAGGATTTACAGCC	0.393000													12	51					0	0	0.010729	0	0
KIN	22944	broad.mit.edu	37	10	7822262	7822262	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:7822262C>T	ENST00000379562.3	-	3	265	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	KIN_ENST00000535925.1_Missense_Mutation_p.R73Q|KIN_ENST00000543003.1_5'UTR			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	73					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAAGTCATTTCGGAATTCCCT	0.299000													6	54					0	0	0.001984	0	0
OR2G3	81469	broad.mit.edu	37	1	247768923	247768923	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:247768923C>T	ENST00000320002.2	+	1	68	c.36C>T	c.(34-36)ttC>ttT	p.F12F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAATGGATTTCATCCTTCTAG	0.468000													12	76					0	0	0.001855	0	0
RELN	5649	broad.mit.edu	37	7	103341380	103341380	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:103341380G>A	ENST00000428762.1	-	9	1038	c.879C>T	c.(877-879)gaC>gaT	p.D293D	RELN_ENST00000424685.2_Silent_p.D293D|RELN_ENST00000343529.5_Silent_p.D293D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	293					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCTGAATCCAGTCCGCAGAGT	0.363000													40	61					0	0	0.009718	0	0
ADD1	118	broad.mit.edu	37	4	2916722	2916722	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:2916722G>C	ENST00000355842.3	+	15	2673	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	ADD1_ENST00000398125.1_Missense_Mutation_p.E604Q|ADD1_ENST00000264758.7_Missense_Mutation_p.E604Q|ADD1_ENST00000398129.1_Missense_Mutation_p.E573Q|ADD1_ENST00000398123.2_Missense_Mutation_p.E604Q|ADD1_ENST00000503455.2_Missense_Mutation_p.E604Q|ADD1_ENST00000446856.1_Missense_Mutation_p.E573Q|ADD1_ENST00000513328.2_Missense_Mutation_p.E573Q			P35611	ADDA_HUMAN	adducin 1 (alpha)	573					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCGTGAGCTGGAGGAGTACCG	0.602000													6	28					0	0	0.001168	0	0
ZNF92	168374	broad.mit.edu	37	7	64864225	64864225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:64864225G>T	ENST00000328747.7	+	4	1397	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	ZNF92_ENST00000357512.2_Nonsense_Mutation_p.E368*|ZNF92_ENST00000431504.1_Nonsense_Mutation_p.E324*|ZNF92_ENST00000450302.2_Nonsense_Mutation_p.E331*	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	400						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				CTACAAATGTGAAGAATGTGG	0.383000													7	38					0.00198382	0.00204581	0.001984	1	0
RAG2	5897	broad.mit.edu	37	11	36614707	36614707	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:36614707C>A	ENST00000311485.3	-	2	1173	c.1012G>T	c.(1012-1014)Gtt>Ttt	p.V338F		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	338					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TCTGAAACAACTTGTTTATTG	0.383000									Familial Hemophagocytic Lymphohistiocytosis				34	149					1.99505e-19	2.4116e-19	0.012213	1	0
AGFG2	3268	broad.mit.edu	37	7	100151083	100151083	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:100151083C>T	ENST00000300176.4	+	4	667	c.545C>T	c.(544-546)cCt>cTt	p.P182L	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	182					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGGGTGATCCTGCACCGTCT	0.557000													13	76					0	0	0.013537	0	0
TNN	63923	broad.mit.edu	37	1	175046812	175046812	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:175046812C>T	ENST00000239462.4	+	2	371	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	86					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACATCATCTTCAGGCACAACA	0.612000													9	41					0	0	0.004482	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917428	89917428	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:89917428C>G	ENST00000548729.1	-	3	1192	c.890G>C	c.(889-891)aGa>aCa	p.R297T	POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_Missense_Mutation_p.K41N|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.R128T|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.R300T|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					GGGGTCAATTCTTGATATCCG	0.468000													18	73					0	0	0.007413	0	0
ACADVL	37	broad.mit.edu	37	17	7126511	7126511	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:7126511C>G	ENST00000356839.5	+	11	1316	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	ACADVL_ENST00000350303.5_Missense_Mutation_p.I357M|ACADVL_ENST00000543245.2_Missense_Mutation_p.I402M	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	379	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TTGGGCTGATCCAGGAGAAGC	0.557000													4	67					0	0	0.000602	0	0
TG	7038	broad.mit.edu	37	8	134030239	134030239	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:134030239C>T	ENST00000220616.4	+	38	6819	c.6779C>T	c.(6778-6780)cCa>cTa	p.P2260L	TG_ENST00000377869.1_Missense_Mutation_p.P2203L|TG_ENST00000519543.1_Missense_Mutation_p.P393L|TG_ENST00000542445.1_Missense_Mutation_p.P630L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2260					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCAGCAAGCCAAGGTATGGG	0.532000													15	20					0	0	0.002450	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136944	40136944	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:40136944T>A	ENST00000278198.2	-	2	2862	c.899A>T	c.(898-900)cAc>cTc	p.H300L	LRRC4C_ENST00000527150.1_Missense_Mutation_p.H300L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.H300L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H300L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	300					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCAAGGGTTGTGATGTAAATG	0.478000													31	53					0	0	0.010818	0	0
C6orf89	221477	broad.mit.edu	37	6	36867275	36867275	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:36867275G>T	ENST00000480824.2	+	3	349	c.55G>T	c.(55-57)Gat>Tat	p.D19Y	C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.D26Y|C6orf89_ENST00000373685.1_Missense_Mutation_p.D19Y|C6orf89_ENST00000510325.2_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	19						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AGAGACTGTTGATTTGGTGAG	0.433000													22	111					5.45024e-15	6.44652e-15	0.003330	1	0
ZFP30	22835	broad.mit.edu	37	19	38135626	38135626	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:38135626C>T	ENST00000351218.2	-	4	578	c.21G>A	c.(19-21)atG>atA	p.M7I	ZFP30_ENST00000392144.1_Missense_Mutation_p.M7I|ZFP30_ENST00000514101.2_Missense_Mutation_p.M7I|ZFP30_ENST00000589018.1_Missense_Mutation_p.M7I	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	7	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCTCTGAACATCACCAAAT	0.373000													10	41					0	0	0.010729	0	0
CELSR1	9620	broad.mit.edu	37	22	46806436	46806436	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:46806436G>C	ENST00000262738.3	-	7	4791	c.4792C>G	c.(4792-4794)Cta>Gta	p.L1598V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1598	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCCAGGAGTAGAGGGCCGGTC	0.637000													15	39					0	0	0.003163	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909582	156909582	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:156909582G>A	ENST00000368194.3	-	37	4893	c.3854C>T	c.(3853-3855)tCt>tTt	p.S1285F	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S661F|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S1245F|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1245					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGGGGTGAGAGGTGACGCT	0.652000													8	98					0	0	0.003080	0	0
USP34	9736	broad.mit.edu	37	2	61522325	61522325	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:61522325C>G	ENST00000398571.2	-	31	4431	c.4355G>C	c.(4354-4356)aGa>aCa	p.R1452T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1452					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTTATTCTTCTATTAGGTTT	0.333000													24	91					0	0	0.005443	0	0
SUPT3H	8464	broad.mit.edu	37	6	44900479	44900479	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:44900479C>G	ENST00000371460.1	-	12	1173	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	SUPT3H_ENST00000306867.5_Missense_Mutation_p.E275Q|SUPT3H_ENST00000371458.1_Missense_Mutation_p.E58Q|SUPT3H_ENST00000371459.1_Missense_Mutation_p.E275Q|SUPT3H_ENST00000371461.2_Missense_Mutation_p.E286Q	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	357					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CTGTGAGCCTCAACACCACAG	0.453000													5	35					0	0	0.000602	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C	rs146982767	by1000genomes	TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							GATTTGTTCATGCCTTCCCTT	0.448000													8	61					0	0	0.003080	0	0
FBXO18	84893	broad.mit.edu	37	10	5948241	5948241	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:5948241G>T	ENST00000379999.5	+	4	656	c.552G>T	c.(550-552)caG>caT	p.Q184H	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.Q133H	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	133	F-box.				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGAGTAACCAGGCTACCGGGA	0.622000													9	26					2.74318e-10	3.09487e-10	0.006214	1	0
SMOC2	64094	broad.mit.edu	37	6	168927058	168927058	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:168927058A>T	ENST00000354536.5	+	3	509	c.289A>T	c.(289-291)Acc>Tcc	p.T97S	SMOC2_ENST00000356284.2_Missense_Mutation_p.T97S	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	97	Thyroglobulin type-1 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AAGGAAGTATACCCAGGAGCA	0.512000													25	55					0	0	0.010818	0	0
RBAK	57786	broad.mit.edu	37	7	5103989	5103989	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:5103989A>G	ENST00000396912.1	+	5	1421	c.902A>G	c.(901-903)aAg>aGg	p.K301R	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.K301R|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	301					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)		TTCAGCCAAAAGGGAACCCTC	0.408000													25	28					0	0	0.003330	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175984	140175984	+	Missense_Mutation	SNP	G	G	T	rs17844250		TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:140175984G>T	ENST00000526136.1	+	1	1435	c.1435G>T	c.(1435-1437)Gcg>Tcg	p.A479S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A479S|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A479S	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGTCAGCGTGGGATGC	0.657000													41	69					7.05121e-23	8.68246e-23	0.010771	1	0
RANBP2	5903	broad.mit.edu	37	2	109382771	109382771	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:109382771G>T	ENST00000283195.6	+	20	5902	c.5776G>T	c.(5776-5778)Gat>Tat	p.D1926Y		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1926					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAGGCTCAGGATATTAGTGG	0.408000													96	203					2.57667e-78	3.30857e-78	0.014410	1	0
SLC2A11	66035	broad.mit.edu	37	22	24226953	24226953	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:24226953G>A	ENST00000345044.6	+	12	1676	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	SLC2A11_ENST00000398356.2_Missense_Mutation_p.E477K|SLC2A11_ENST00000316185.8_Missense_Mutation_p.E473K|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	470						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GATCTCCAAGGAATTACACAG	0.562000													21	59					0	0	0.008871	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173357	207173357	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:207173357G>A	ENST00000374423.3	+	5	4491	c.4105G>A	c.(4105-4107)Gat>Aat	p.D1369N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1369							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGAAAGTTCTGATTCCAATGA	0.398000													7	58					0	0	0.001984	0	0
CCIN	881	broad.mit.edu	37	9	36170550	36170550	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:36170550G>T	ENST00000335119.2	+	1	1162	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	351					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GTATGACATGGATGACAACTC	0.572000													16	67					6.31663e-08	6.91372e-08	0.003163	1	0
OMA1	115209	broad.mit.edu	37	1	59004832	59004832	+	Silent	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:59004832A>G	ENST00000371226.3	-	2	248	c.135T>C	c.(133-135)caT>caC	p.H45H	OMA1_ENST00000358603.2_Silent_p.H45H|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	45					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TATTTACTATATGGTTAACTT	0.368000													40	72					0	0	0.014410	0	0
FCER1A	2205	broad.mit.edu	37	1	159273941	159273941	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:159273941G>C	ENST00000368115.1	+	4	399	c.300G>C	c.(298-300)gaG>gaC	p.E100D	FCER1A_ENST00000368114.1_Missense_Mutation_p.E67D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	100	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AAGTTAATGAGAGTGAACCTG	0.403000													7	151					0	0	0.010729	0	0
INTS6	26512	broad.mit.edu	37	13	51963515	51963515	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr13:51963515C>A	ENST00000311234.4	-	6	1151	c.679G>T	c.(679-681)Gta>Tta	p.V227L	INTS6_ENST00000398119.2_Missense_Mutation_p.V214L|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.V49L|INTS6_ENST00000420668.2_Missense_Mutation_p.K165N|INTS6_ENST00000463928.1_Missense_Mutation_p.V227L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	227	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CCACTTTGTACTTTCTGCACC	0.383000													39	111					1.97e-11	2.25338e-11	0.010771	1	0
BRCA2	675	broad.mit.edu	37	13	32968918	32968918	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr13:32968918C>A	ENST00000544455.1	+	25	9576	c.9349C>A	c.(9349-9351)Cat>Aat	p.H3117N	BRCA2_ENST00000380152.3_Missense_Mutation_p.H3117N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3117					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATTAAGCCTCATATGTTAAT	0.398000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			7	28					2.7689e-08	3.04579e-08	0.001984	1	0
IRF8	3394	broad.mit.edu	37	16	85936694	85936694	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:85936694G>T	ENST00000268638.5	+	2	495	c.73G>T	c.(73-75)Gga>Tga	p.G25*	IRF8_ENST00000563180.1_Nonsense_Mutation_p.G25*	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	25					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CATGTATCCAGGACTGATTTG	0.488000													33	66					1.22384e-17	1.46594e-17	0.013726	1	0
PKD1L1	168507	broad.mit.edu	37	7	47882650	47882650	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:47882650G>C	ENST00000289672.2	-	34	5405	c.5355C>G	c.(5353-5355)atC>atG	p.I1785M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1785					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTTGCAGAAAGATGTAACCAG	0.448000													12	39					0	0	0.013537	0	0
KDM5A	5927	broad.mit.edu	37	12	427406	427406	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:427406G>A	ENST00000399788.2	-	19	3125	c.2763C>T	c.(2761-2763)gtC>gtT	p.V921V	KDM5A_ENST00000382815.4_Silent_p.V921V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	921					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCTTCTTCATGACATCCAAAG	0.498000			T	NUP98	AML								21	125					0	0	0.014323	0	0
ZNF112	7665	broad.mit.edu	37	19	44833574	44833574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:44833574G>A	ENST00000354340.4	-	4	787	c.736C>T	c.(736-738)Caa>Taa	p.Q246*	ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q269*|ZNF112_ENST00000337401.4_Nonsense_Mutation_p.Q252*	NM_013380.3	NP_037512.3			zinc finger protein 112																		TCCTCTGTTTGAATTGACTCC	0.423000													19	63					0	0	0.007413	0	0
ACSF3	197322	broad.mit.edu	37	16	89180750	89180750	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:89180750G>A	ENST00000317447.4	+	6	1358	c.981G>A	c.(979-981)ctG>ctA	p.L327L	CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000406948.3_Silent_p.L327L|ACSF3_ENST00000378345.4_Silent_p.L62L	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	327					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CGCGTAGGCTGATGGTCTCAG	0.627000													16	51					0	0	0.004990	0	0
CNKSR1	10256	broad.mit.edu	37	1	26514740	26514740	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:26514740C>G	ENST00000531191.1	+	16	1703	c.696C>G	c.(694-696)ctC>ctG	p.L232L	CNKSR1_ENST00000361530.6_Silent_p.L490L|CNKSR1_ENST00000374253.5_Silent_p.L497L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	497	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.L490L(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGTCATCTCATTACCTGCA	0.582000													6	46					0	0	0.001984	0	0
PTGER4	5734	broad.mit.edu	37	5	40692198	40692198	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:40692198C>T	ENST00000302472.3	+	3	2209	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	395					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTCAGACCCTCCTGCCAGACC	0.567000													21	49					0	0	0.003330	0	0
PRRC2C	23215	broad.mit.edu	37	1	171544259	171544259	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:171544259C>G	ENST00000367742.3	+	25	7189	c.6947C>G	c.(6946-6948)tCa>tGa	p.S2316*	PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.S2316*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.S2249*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.S2314*			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2314							protein C-terminus binding										CCTACAGCATCACTATCAGGT	0.388000													3	33					0	0	0.009096	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964676	7964676	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:7964676C>G	ENST00000539278.1	-	1	3751	c.591G>C	c.(589-591)caG>caC	p.Q197H	LRRC8E_ENST00000306708.6_Silent_p.L423L																							AGCTGGCCCTCTGCATGCTGC	0.627000													5	32					0	0	0.001168	0	0
SDK1	221935	broad.mit.edu	37	7	4277383	4277383	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:4277383G>T	ENST00000404826.2	+	42	6236	c.6097G>T	c.(6097-6099)Ggg>Tgg	p.G2033W	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Missense_Mutation_p.G2013W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2033					cell adhesion	integral to membrane		p.G2033W(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGTCCTGCACGGGCAGAATAA	0.572000													41	36					3.4345e-17	4.09904e-17	0.011902	1	0
CSPG4	1464	broad.mit.edu	37	15	75968709	75968709	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:75968709C>A	ENST00000308508.5	-	10	6243	c.6151G>T	c.(6151-6153)Gca>Tca	p.A2051S	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2051	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGCCCACCTGCCCACACATGC	0.647000													6	26					0.00116845	0.00121254	0.001168	1	0
FRMD1	79981	broad.mit.edu	37	6	168468049	168468049	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:168468049C>G	ENST00000283309.6	-	3	446	c.382G>C	c.(382-384)Gaa>Caa	p.E128Q	FRMD1_ENST00000440994.2_Missense_Mutation_p.E60Q|FRMD1_ENST00000537786.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	128	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		ACACTTACTTCATTTCTTTCT	0.512000													8	47					0	0	0.003080	0	0
DSCAM	1826	broad.mit.edu	37	21	41725430	41725430	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr21:41725430T>A	ENST00000400454.1	-	5	1373	c.896A>T	c.(895-897)tAc>tTc	p.Y299F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	299	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCAGTTCCGTATCTGTTGGA	0.512000													19	130					0	0	0.014323	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144866706	144866706	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:144866706C>G	ENST00000369359.4	-	37	5982	c.5944G>C	c.(5944-5946)Gag>Cag	p.E1982Q	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1846Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1846Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1740Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1931Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1846					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCAAGATGCTCTTCCAGCAGG	0.597000			T	PDGFRB	MPD								5	108					0	0	0.000602	0	0
FAM47C	442444	broad.mit.edu	37	X	37028224	37028224	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:37028224C>A	ENST00000358047.3	+	1	1793	c.1741C>A	c.(1741-1743)Cat>Aat	p.H581N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	581										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGTGTCCCATCTCTGCCC	0.657000													57	115					3.00063e-23	3.7156e-23	0.014410	1	0
MOV10L1	54456	broad.mit.edu	37	22	50591507	50591507	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:50591507G>A	ENST00000262794.5	+	22	3009	c.2926G>A	c.(2926-2928)Gag>Aag	p.E976K	MOV10L1_ENST00000395852.1_Missense_Mutation_p.E103K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E956K|MOV10L1_ENST00000354853.2_Missense_Mutation_p.E19K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E976K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E976K|MOV10L1_ENST00000395843.1_Missense_Mutation_p.E19K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	976					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCGGTCCCACGAGGCCCTGCT	0.587000													21	73					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179424766	179424766	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:179424766C>A	ENST00000589042.1	-	326	86317	c.86093G>T	c.(86092-86094)tGg>tTg	p.W28698L	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W19758L|TTN_ENST00000342992.6_Missense_Mutation_p.W26130L|TTN_ENST00000342175.6_Missense_Mutation_p.W19825L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W27057L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W19633L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27057	Fibronectin type-III 109.						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)			GGAAGTTTTCCAGTCAGTGTC	0.398000													13	37					1.49906e-05	1.5932e-05	0.002450	1	0
RFPL1	5988	broad.mit.edu	37	22	29837589	29837589	+	Silent	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:29837589C>A	ENST00000354373.2	+	2	641	c.432C>A	c.(430-432)ctC>ctA	p.L144L	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	144	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTGACGACCTCAGGAGCGTCC	0.502000													23	90					1.17739e-12	1.36091e-12	0.005443	1	0
EML2	24139	broad.mit.edu	37	19	46124873	46124873	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:46124873C>T	ENST00000536630.1	-	13	1443	c.1305G>A	c.(1303-1305)gcG>gcA	p.A435A	EML2_ENST00000586902.1_5'UTR|EML2_ENST00000245925.3_Silent_p.A288A|EML2_ENST00000589876.1_Silent_p.A288A|EML2_ENST00000587152.1_Silent_p.A489A	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	288					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CGCCCAGCACCGCCTGTGTGA	0.672000													4	29					0	0	0.001168	0	0
GYPA	2993	broad.mit.edu	37	4	145061855	145061855	+	Translation_Start_Site	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:145061855G>T	ENST00000360771.4	-	0	49					NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)						interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GCAAGTGTCAGTGTCTGACCT	0.433000													6	15					2.7689e-08	3.04579e-08	0.001984	1	0
SCYL1	57410	broad.mit.edu	37	11	65293487	65293487	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:65293487G>C	ENST00000524944.1	+	3	381	c.348G>C	c.(346-348)gaG>gaC	p.E116D	SCYL1_ENST00000533862.1_Missense_Mutation_p.E116D|SCYL1_ENST00000525364.1_Missense_Mutation_p.E116D|SCYL1_ENST00000527009.1_5'UTR|SCYL1_ENST00000270176.5_Missense_Mutation_p.E116D|SCYL1_ENST00000420247.2_Missense_Mutation_p.E116D|SCYL1_ENST00000279270.6_Missense_Mutation_p.E116D|SCYL1_ENST00000527630.1_Missense_Mutation_p.E116D			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	116	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						AGGAGCTGGAGATCTCCTGGG	0.607000													9	91					0	0	0.006214	0	0
PIH1D1	55011	broad.mit.edu	37	19	49950617	49950617	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:49950617C>T	ENST00000262265.5	-	6	824	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	PIH1D1_ENST00000596049.1_Missense_Mutation_p.A197T	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	197					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CTCCCGGGGGCGGGCGTGTAC	0.627000													14	59					0	0	0.004007	0	0
VPS37B	79720	broad.mit.edu	37	12	123380591	123380591	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:123380591C>T	ENST00000267202.2	-	1	400	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	7					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		AACCGGGCTTCGCTCCCGGCG	0.736000													4	51					0	0	0.009096	0	0
TOP2A	7153	broad.mit.edu	37	17	38556186	38556186	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:38556186G>A	ENST00000423485.1	-	24	3292	c.3134C>T	c.(3133-3135)tCt>tTt	p.S1045F		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1045					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CAGTTTAGCAGATTCAGCACC	0.333000													4	31					0	0	0.009096	0	0
PCDH9	5101	broad.mit.edu	37	13	67802282	67802282	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr13:67802282G>C	ENST00000544246.1	-	2	982	c.291C>G	c.(289-291)ctC>ctG	p.L97L	PCDH9_ENST00000456367.1_Silent_p.L97L|PCDH9_ENST00000377865.2_Silent_p.L97L|PCDH9_ENST00000328454.5_Silent_p.L97L|PCDH9_ENST00000377861.3_Silent_p.L97L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	97	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGCCAGCACAGAGTTTTTCTC	0.438000													12	44					0	0	0.001855	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs3831361	by1000genomes	TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							ATTTGTTCATGCCTTCCCTTT	0.453000													8	60					0	0	0.003080	0	0
TRIO	7204	broad.mit.edu	37	5	14291313	14291313	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:14291313G>A	ENST00000344204.4	+	5	1053	c.1029G>A	c.(1027-1029)agG>agA	p.R343R	TRIO_ENST00000537187.1_Silent_p.R343R|TRIO_ENST00000509967.2_Silent_p.R294R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	343					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCAGCTGAGGCTGTTTGAAC	0.587000													26	63					0	0	0.003330	0	0
CCDC141	285025	broad.mit.edu	37	2	179718180	179718180	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:179718180G>C	ENST00000420890.2	-	20	3349	c.3232C>G	c.(3232-3234)Cag>Gag	p.Q1078E	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q503E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	503							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TATAAGTGCTGAGCAAGGTCA	0.433000													23	151					0	0	0.005443	0	0
KDM4C	23081	broad.mit.edu	37	9	6986486	6986486	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:6986486A>T	ENST00000381309.3	+	11	2062	c.1497A>T	c.(1495-1497)aaA>aaT	p.K499N	KDM4C_ENST00000536108.1_Missense_Mutation_p.K318N|KDM4C_ENST00000381306.3_Missense_Mutation_p.K499N|KDM4C_ENST00000428870.2_Missense_Mutation_p.K186N|KDM4C_ENST00000543771.1_Missense_Mutation_p.K499N|KDM4C_ENST00000535193.1_Missense_Mutation_p.K521N|KDM4C_ENST00000442236.2_Missense_Mutation_p.K318N	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	499					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCCCGAGAAATCAGACCCAT	0.463000													10	59					0	0	0.008291	0	0
PTPN23	25930	broad.mit.edu	37	3	47453061	47453061	+	Missense_Mutation	SNP	C	C	T	rs146178681	byFrequency	TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:47453061C>T	ENST00000265562.4	+	20	3850	c.3773C>T	c.(3772-3774)cCg>cTg	p.P1258L	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1132L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1258	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.P1258L(2)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACTGCCCCCCGCTAGTGGCA	0.577000													6	54					0	0	0.001984	0	0
IL7	3574	broad.mit.edu	37	8	79652305	79652305	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:79652305C>G	ENST00000263851.4	-	3	760	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Missense_Mutation_p.E54Q|IL7_ENST00000541183.1_Missense_Mutation_p.E3Q	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	54					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						CTACCAATTTCTTTCATGCTG	0.229000													9	36					0	0	0.006214	0	0
ABCC10	89845	broad.mit.edu	37	6	43411937	43411937	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:43411937G>T	ENST00000244533.3	+	10	2810	c.2451G>T	c.(2449-2451)gaG>gaT	p.E817D	ABCC10_ENST00000372530.4_Missense_Mutation_p.E845D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	845	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AAACAAAGGAGGGGCTGGAGG	0.552000													10	23					7.48243e-07	8.09574e-07	0.006214	1	0
GPR52	9293	broad.mit.edu	37	1	174418080	174418080	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:174418080G>C	ENST00000367685.2	+	1	869	c.831G>C	c.(829-831)ctG>ctC	p.L277L	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	277						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTTATATGCTGTGGCTCCCCT	0.438000													16	127					0	0	0.004007	0	0
PIWIL1	9271	broad.mit.edu	37	12	130842061	130842061	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:130842061G>A	ENST00000245255.3	+	14	1900	c.1628G>A	c.(1627-1629)aGa>aAa	p.R543K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	543	RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCCTACTTAAGAGTCTTACAG	0.423000													18	62					0	0	0.014323	0	0
PHF2	5253	broad.mit.edu	37	9	96439907	96439907	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:96439907G>A	ENST00000359246.4	+	22	3607	c.3240G>A	c.(3238-3240)caG>caA	p.Q1080Q	PHF2_ENST00000375376.4_Silent_p.Q311Q	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	1080					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCGCCAAGCAGAGGCTTGGGA	0.537000													36	121					0	0	0.003755	0	0
PDLIM5	10611	broad.mit.edu	37	4	95445019	95445019	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:95445019C>G	ENST00000317968.4	+	3	377	c.241C>G	c.(241-243)Ctg>Gtg	p.L81V	PDLIM5_ENST00000514743.1_Missense_Mutation_p.L81V|PDLIM5_ENST00000508216.1_Missense_Mutation_p.L81V|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L81V|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L81V|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L81V|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L81V|PDLIM5_ENST00000538141.1_Missense_Mutation_p.L81V	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	81	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GAATATGACTCTGCAAAGGTA	0.393000													6	37					0	0	0.001168	0	0
OR5J2	282775	broad.mit.edu	37	11	55944604	55944604	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:55944604C>A	ENST00000312298.1	+	1	511	c.511C>A	c.(511-513)Cta>Ata	p.L171I		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTTTTGTAGGCTAAATGCTGT	0.438000													17	41					1.45105e-14	1.70408e-14	0.006122	1	0
LAMA1	284217	broad.mit.edu	37	18	7044805	7044805	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr18:7044805C>A	ENST00000389658.3	-	7	985	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	298	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTCTCCCCGCAAGTATTA	0.448000													43	106					9.58827e-17	1.14023e-16	0.014410	1	0
POM121L12	285877	broad.mit.edu	37	7	53103733	53103733	+	Silent	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:53103733G>T	ENST00000408890.4	+	1	385	c.369G>T	c.(367-369)ggG>ggT	p.G123G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	123										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGAAAGGGGGGCTGTGTCGTG	0.697000													9	32					2.17888e-05	2.31199e-05	0.006214	1	0
ITGAE	3682	broad.mit.edu	37	17	3661042	3661042	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:3661042G>C	ENST00000263087.4	-	9	1076	c.978C>G	c.(976-978)atC>atG	p.I326M		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	326	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGGGGGAGTTGATGACTGTCG	0.582000													45	153					0	0	0.014410	0	0
ROS1	6098	broad.mit.edu	37	6	117632184	117632184	+	Splice_Site	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:117632184T>A	ENST00000368508.3	-	39	6430	c.6233_splice	c.e39+1	p.R2078_splice	ROS1_ENST00000368507.3_Splice_Site_p.R2072_splice	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2078	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAATTGTACCTGTGAATGAAA	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								31	42					0	0	0.010818	0	0
TRIM44	54765	broad.mit.edu	37	11	35827924	35827924	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:35827924G>A	ENST00000299413.5	+	5	1331	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	342						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				CAGTGAAGAAGAGGACACATG	0.473000													19	83					0	0	0.010504	0	0
ACSBG1	23205	broad.mit.edu	37	15	78526821	78526821	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:78526821C>T	ENST00000258873.4	-	1	228	c.23G>A	c.(22-24)gGa>gAa	p.G8E	ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	8					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCAGCCGTATCCAGCTCCAGA	0.597000													69	118					0	0	0.014410	0	0
APOBR	55911	broad.mit.edu	37	16	28507384	28507384	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:28507384C>T	ENST00000564831.1	+	2	1055	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	APOBR_ENST00000328423.5_Missense_Mutation_p.S341L|APOBR_ENST00000431282.1_Missense_Mutation_p.S341L	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	341	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGGATAGCCTCAGGCGGGGAG	0.721000													3	15					0	0	0.004672	0	0
WDR66	144406	broad.mit.edu	37	12	122396299	122396299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:122396299C>T	ENST00000288912.4	+	12	2706	c.1852C>T	c.(1852-1854)Caa>Taa	p.Q618*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.Q618*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	618							calcium ion binding	p.Q618*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCACCCATATCAACCCCTCAT	0.463000													30	122					0	0	0.008361	0	0
RASAL1	8437	broad.mit.edu	37	12	113565663	113565663	+	Silent	SNP	G	G	A	rs61759864	byFrequency	TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:113565663G>A	ENST00000546530.1	-	5	537	c.252C>T	c.(250-252)atC>atT	p.I84I	RASAL1_ENST00000261729.5_Silent_p.I84I|RASAL1_ENST00000548055.1_Silent_p.I84I|RASAL1_ENST00000446861.3_Silent_p.I84I|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	84	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGATCTTGCCGATGATGTCGT	0.662000													7	77					0	0	0.001984	0	0
ZNF223	7766	broad.mit.edu	37	19	44570526	44570526	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:44570526G>T	ENST00000591793.1	+	7	958	c.875G>T	c.(874-876)gGa>gTa	p.G292V	ZNF223_ENST00000434772.3_Missense_Mutation_p.G182V			Q9UK11	ZN223_HUMAN	zinc finger protein 223	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GATGAGTGTGGAAAAAGCTTC	0.428000													45	117					3.77171e-38	4.82428e-38	0.014410	1	0
SEPT2	4735	broad.mit.edu	37	2	242283227	242283227	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:242283227G>T	ENST00000391973.2	+	9	1285	c.757G>T	c.(757-759)Gtc>Ttc	p.V253F	SEPT2_ENST00000360051.3_Missense_Mutation_p.V253F|SEPT2_ENST00000402092.2_Missense_Mutation_p.V253F|SEPT2_ENST00000401990.1_Missense_Mutation_p.V263F|SEPT2_ENST00000407971.1_Missense_Mutation_p.V213F|SEPT2_ENST00000391971.2_Missense_Mutation_p.V253F	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	253					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		AGGAAAGAAGGTCAGAGGCCG	0.502000													11	264					0.00010058	0.000105537	0.013537	1	0
FEZ1	9638	broad.mit.edu	37	11	125359520	125359520	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:125359520C>T	ENST00000278919.3	-	2	388	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	FEZ1_ENST00000366139.3_Missense_Mutation_p.E52K|FEZ1_ENST00000524435.1_Missense_Mutation_p.E52K	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	52					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTGATTATTTCGGAAGAAAAA	0.507000													5	58					0	0	0.000602	0	0
KLHL20	27252	broad.mit.edu	37	1	173703142	173703142	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:173703142G>T	ENST00000209884.4	+	3	450	c.314G>T	c.(313-315)cGt>cTt	p.R105L	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	105	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCAGAGAGCCGTCAGACAGAA	0.468000													9	84					7.03913e-09	7.80811e-09	0.013537	1	0
MAGOHB	55110	broad.mit.edu	37	12	10766091	10766091	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:10766091C>A	ENST00000320756.2	-	1	131	c.41G>T	c.(40-42)gGg>gTg	p.G14V	MAGOHB_ENST00000539554.1_Intron|MAGOHB_ENST00000381881.2_Missense_Mutation_p.G14V	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	14					mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding			breast(2)|large_intestine(2)	4						GCCCTTGTGCCCTACGTAGTA	0.612000													45	67					1.61863e-15	1.92139e-15	0.014410	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160244634	160244634	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:160244634C>T	ENST00000264431.4	+	5	950	c.531C>T	c.(529-531)ctC>ctT	p.L177L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	177					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAGTGATTCTCAATGGATCTG	0.398000													6	106					0	0	0.003080	0	0
PRDM10	56980	broad.mit.edu	37	11	129814802	129814802	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:129814802G>A	ENST00000358825.5	-	6	857	c.626C>T	c.(625-627)cCc>cTc	p.P209L	PRDM10_ENST00000423662.2_Missense_Mutation_p.P123L|PRDM10_ENST00000528746.1_Missense_Mutation_p.P183L|PRDM10_ENST00000304538.6_Missense_Mutation_p.P123L|PRDM10_ENST00000360871.3_Missense_Mutation_p.P209L|PRDM10_ENST00000526082.1_Missense_Mutation_p.P123L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	209	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GAGCACCAGGGGGAGGCTCGC	0.667000													17	20					0	0	0.007413	0	0
SRD5A3	79644	broad.mit.edu	37	4	56236183	56236183	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:56236183C>G	ENST00000264228.4	+	5	1110	c.882C>G	c.(880-882)ctC>ctG	p.L294L	SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	294					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			CTGCCTTTCTCAGCCACCAAT	0.423000													5	101					0	0	0.001984	0	0
PTPRU	10076	broad.mit.edu	37	1	29639188	29639188	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:29639188C>G	ENST00000373779.3	+	22	3326	c.3197C>G	c.(3196-3198)cCt>cGt	p.P1066R	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Missense_Mutation_p.P1072R|PTPRU_ENST00000345512.3_Missense_Mutation_p.P1076R|PTPRU_ENST00000323874.8_Missense_Mutation_p.P1072R|PTPRU_ENST00000460170.2_Missense_Mutation_p.P1072R|PTPRU_ENST00000428026.2_Missense_Mutation_p.P1063R	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1076	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCCACCCCACCTGATGCCGGG	0.642000													3	28					0	0	0.004672	0	0
ARVCF	421	broad.mit.edu	37	22	19961246	19961246	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:19961246G>C	ENST00000263207.3	-	13	2450	c.2159C>G	c.(2158-2160)tCt>tGt	p.S720C	ARVCF_ENST00000406259.1_Missense_Mutation_p.S714C|ARVCF_ENST00000406522.1_Missense_Mutation_p.S651C|ARVCF_ENST00000344269.3_Missense_Mutation_p.S657C|ARVCF_ENST00000401994.1_Missense_Mutation_p.S657C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	720					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GTCGGTCTCAGACTGCAGCAG	0.662000													5	71					0	0	0.001168	0	0
KRT75	9119	broad.mit.edu	37	12	52824329	52824329	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:52824329G>C	ENST00000252245.5	-	5	1251	c.1031C>G	c.(1030-1032)aCc>aGc	p.T344S		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	344	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCTCACCTTGGTCTGGTACCA	0.542000													51	71					0	0	0.014410	0	0
BBOX1	8424	broad.mit.edu	37	11	27114762	27114762	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:27114762G>A	ENST00000263182.3	+	5	750	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	BBOX1_ENST00000525090.1_Missense_Mutation_p.E128K|BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.E128K|BBOX1_ENST00000528583.1_Missense_Mutation_p.E128K|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	128					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TTTGGATTTTGAAGATGTTTT	0.408000													9	40					0	0	0.004482	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997621	146997621	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:146997621G>C	ENST00000265272.5	-	19	2666	c.2199C>G	c.(2197-2199)atC>atG	p.I733M	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.I712M|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.I691M	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	733						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAAACTTGATAACAGTTT	0.403000													33	54					0	0	0.006230	0	0
GRSF1	2926	broad.mit.edu	37	4	71690060	71690060	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:71690060C>T	ENST00000254799.6	-	9	1536	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Silent_p.L311L|GRSF1_ENST00000545193.1_Silent_p.L355L|GRSF1_ENST00000439371.1_Silent_p.L311L	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	473	RRM 3.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GACATGAATTCAGGAACAGTT	0.358000													3	15					0	0	0.004672	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007521	93007521	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:93007521C>A	ENST00000268164.3	+	6	1271	c.1034C>A	c.(1033-1035)cCg>cAg	p.P345Q	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.P324Q	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	345					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CAGGCCAGCCCGCATACCATG	0.572000													30	60					0.00209593	0.00215805	0.010818	1	0
RPS6KA3	6197	broad.mit.edu	37	X	20187547	20187547	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:20187547C>G	ENST00000379565.3	-	16	1623	c.1416G>C	c.(1414-1416)caG>caC	p.Q472H	RPS6KA3_ENST00000544447.1_Missense_Mutation_p.Q444H|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.Q443H|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.Q442H	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	472	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TGTTTGGATGCTGTCCATAAC	0.308000													24	104					0	0	0.005443	0	0
NETO1	81832	broad.mit.edu	37	18	70451117	70451117	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr18:70451117C>T	ENST00000327305.6	-	7	1321	c.664G>A	c.(664-666)Gag>Aag	p.E222K	NETO1_ENST00000299430.2_Missense_Mutation_p.E221K|NETO1_ENST00000583169.1_Missense_Mutation_p.E222K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	222	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TTCTGCATCTCATAGTCCAAG	0.348000													23	79					0	0	0.012319	0	0
PRSS1	5644	broad.mit.edu	37	7	142460304	142460304	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:142460304G>T	ENST00000486171.1	+	5	536	c.519G>T	c.(517-519)caG>caT	p.Q173H	PRSS1_ENST00000311737.7_Missense_Mutation_p.Q159H			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	159	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			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)			ACGAGCTGCAGTGCCTGGATG	0.522000													17	264					3.32936e-07	3.62006e-07	0.006122	1	0
ZNF709	163051	broad.mit.edu	37	19	12575934	12575934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:12575934G>A	ENST00000397732.3	-	4	973	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	ZNF709_ENST00000428311.1_Nonsense_Mutation_p.Q268*|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGTATTTGAAAAGTTTGG	0.383000													9	27					0	0	0.004482	0	0
CLPTM1	1209	broad.mit.edu	37	19	45493695	45493695	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:45493695C>G	ENST00000541297.2	+	10	1598	c.1133C>G	c.(1132-1134)tCc>tGc	p.S378C	CLPTM1_ENST00000546079.1_Missense_Mutation_p.S290C|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S392C			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	392					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAGGGCCTGTCCGTGCGCTCC	0.597000													38	157					0	0	0.007835	0	0
COL9A1	1297	broad.mit.edu	37	6	70935635	70935635	+	Splice_Site	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:70935635C>A	ENST00000357250.6	-	37	2739	c.2581_splice	c.e37+1	p.G861_splice	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Splice_Site_p.G618_splice|COL9A1_ENST00000320755.7_Splice_Site_p.G618_splice	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	861	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACACACTTACCTGGGAGACCT	0.433000													37	54					6.68952e-21	8.13091e-21	0.013114	1	0
TGFBR2	7048	broad.mit.edu	37	3	30713446	30713446	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:30713446G>C	ENST00000295754.5	+	4	1153	c.771G>C	c.(769-771)gaG>gaC	p.E257D	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E282D	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	257	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GCTTTGCTGAGGTCTATAAGG	0.517000													8	53					0	0	0.004482	0	0
HECA	51696	broad.mit.edu	37	6	139488428	139488428	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:139488428G>A	ENST00000367658.2	+	2	1564	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	427					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GAGACATGATGAGATCGAATA	0.463000													16	57					0	0	0.003163	0	0
PLIN5	440503	broad.mit.edu	37	19	4523664	4523664	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:4523664T>G	ENST00000381848.3	-	8	1348	c.1268A>C	c.(1267-1269)cAc>cCc	p.H423P		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	423						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCCGTCCCTGTGCTCTGCCTC	0.706000											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	105					0	0	0.006999	0	0
SON	6651	broad.mit.edu	37	21	34922480	34922480	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr21:34922480G>A	ENST00000356577.4	+	3	1418	c.943G>A	c.(943-945)Gag>Aag	p.E315K	SON_ENST00000300278.4_Missense_Mutation_p.E315K|SON_ENST00000381679.4_Missense_Mutation_p.E315K|SON_ENST00000290239.6_Missense_Mutation_p.E315K|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	315					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GACACCTACTGAGGTGTACCC	0.478000											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	62					0	0	0.004482	0	0
MFSD5	84975	broad.mit.edu	37	12	53647661	53647661	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:53647661C>T	ENST00000534842.1	+	2	1510	c.1363C>T	c.(1363-1365)Cta>Tta	p.L455L	MFSD5_ENST00000329548.4_Silent_p.L348L	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	348					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CATAGCCTTTCTACTTATTGA	0.507000													18	83					0	0	0.007413	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118236285	118236285	+	Silent	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:118236285T>C	ENST00000369230.3	+	11	1440	c.1294T>C	c.(1294-1296)Ttg>Ctg	p.L432L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	432	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCAGAATAAGTTGGGAGCAGA	0.308000													27	33					0	0	0.005443	0	0
PACRG	135138	broad.mit.edu	37	6	163235198	163235198	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:163235198C>A	ENST00000337019.3	+	3	400	c.176C>A	c.(175-177)gCa>gAa	p.A59E	PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Missense_Mutation_p.A59E|PACRG_ENST00000366889.2_Missense_Mutation_p.A59E	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	59										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CCTCCAGCTGCAGGGGCATTT	0.378000													27	93					4.22769e-11	4.82747e-11	0.006320	1	0
ROM1	6094	broad.mit.edu	37	11	62381824	62381824	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:62381824C>A	ENST00000278833.3	+	2	1226	c.685C>A	c.(685-687)Cgt>Agt	p.R229S	ROM1_ENST00000534093.1_Silent_p.T19T	NM_000327.3	NP_000318.1	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	229			R -> H.		cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CCTGCAAAACCGTCTTTCAGA	0.587000													19	69					7.07596e-05	7.46028e-05	0.006122	1	0
MPP3	4356	broad.mit.edu	37	17	41891569	41891569	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:41891569C>G	ENST00000398393.1	-	13	1505	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398389.4_Silent_p.L390L			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	390	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	p.L390L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ACCTACCGATCAGAACCACCA	0.612000													40	176					0	0	0.006999	0	0
GHR	2690	broad.mit.edu	37	5	42718993	42718993	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:42718993G>A	ENST00000230882.4	+	10	1574	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	GHR_ENST00000537449.1_Missense_Mutation_p.E275K|GHR_ENST00000357703.3_Missense_Mutation_p.E440K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	462					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACTTCCTACTGAAGGAGCTGA	0.453000													18	75					0	0	0.006122	0	0
OR7D4	125958	broad.mit.edu	37	19	9324997	9324997	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:9324997C>T	ENST00000308682.2	-	1	545	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E173K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGCGGAATCTCAGTGCCTGTG	0.507000													15	58					0	0	0.003163	0	0
BRCA1	672	broad.mit.edu	37	17	41258529	41258529	+	Silent	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:41258529G>T	ENST00000357654.3	-	4	274	c.156C>A	c.(154-156)ctC>ctA	p.L52L	BRCA1_ENST00000351666.3_Silent_p.L52L|BRCA1_ENST00000471181.2_Silent_p.L52L|BRCA1_ENST00000346315.3_Silent_p.L52L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Silent_p.L52L|BRCA1_ENST00000468300.1_Silent_p.L52L|BRCA1_ENST00000354071.3_Silent_p.L52L|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000493795.1_Silent_p.L5L|BRCA1_ENST00000352993.3_Silent_p.L52L	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	52					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTTCTGGTTGAGAAGTTTCA	0.323000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			5	46					2.0095e-06	2.16711e-06	0.001984	1	0
CSPP1	79848	broad.mit.edu	37	8	68007596	68007596	+	Silent	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:68007596A>T	ENST00000262210.5	+	6	610	c.579A>T	c.(577-579)acA>acT	p.T193T	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	228						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATACAGACATCTTGTGAAA	0.363000													13	69					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9064992	9064992	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:9064992G>T	ENST00000397910.4	-	3	22657	c.22454C>A	c.(22453-22455)tCc>tAc	p.S7485Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7487	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAGAACTGGAAGTTCCAAC	0.478000													23	52					7.87624e-14	9.21688e-14	0.002780	1	0
GPR116	221395	broad.mit.edu	37	6	46851846	46851846	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:46851846C>A	ENST00000283296.7	-	5	779	c.491G>T	c.(490-492)tGc>tTc	p.C164F	GPR116_ENST00000265417.7_Missense_Mutation_p.C164F|GPR116_ENST00000456426.2_Missense_Mutation_p.C164F|GPR116_ENST00000362015.4_Missense_Mutation_p.C164F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	164	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTGAAGCAGGCAAAAAGGTCC	0.478000													40	91					1.22674e-20	1.48833e-20	0.008740	1	0
C1orf85	112770	broad.mit.edu	37	1	156264242	156264242	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:156264242C>G	ENST00000362007.1	-	3	519	c.493G>C	c.(493-495)Gat>Cat	p.D165H	C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_Missense_Mutation_p.D79H	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	165					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GTGGCAGGATCCAATGAATCA	0.532000													11	96					0	0	0.010729	0	0
NUP205	23165	broad.mit.edu	37	7	135304260	135304260	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:135304260C>G	ENST00000285968.6	+	29	4079	c.4053C>G	c.(4051-4053)ctC>ctG	p.L1351L		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1351					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGGCCGTCCTCACTGAACAGA	0.512000													25	35					0	0	0.003954	0	0
GLRB	2743	broad.mit.edu	37	4	158091631	158091631	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:158091631G>A	ENST00000264428.4	+	10	1515	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	GLRB_ENST00000509282.1_Silent_p.L415L|GLRB_ENST00000512619.1_Silent_p.*57*|GLRB_ENST00000541722.1_3'UTR	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	415					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AGTCTGATCTGAGATCTAATG	0.338000													48	38					0	0	0.014410	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526048	68526048	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:68526048G>A	ENST00000433211.1	-	9	1429	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	CTNNA3_ENST00000373744.4_Missense_Mutation_p.H419Y|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	419					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTGTGTTCATGAAATATCGCA	0.433000													12	116					0	0	0.002450	0	0
KCNT2	343450	broad.mit.edu	37	1	196395074	196395074	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:196395074C>A	ENST00000367433.5	-	11	1130	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H	KCNT2_ENST00000294725.8_Missense_Mutation_p.Q343H|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q343H|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	343						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.Q343H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCCTTCGAACCTGTACATCCA	0.373000													16	73					6.49762e-13	7.53678e-13	0.006122	1	0
PARP6	56965	broad.mit.edu	37	15	72554009	72554009	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:72554009C>G	ENST00000569795.1	-	9	1122	c.435G>C	c.(433-435)ctG>ctC	p.L145L	PARP6_ENST00000260376.7_Silent_p.L145L|PARP6_ENST00000287196.9_Silent_p.L145L|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	145							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						AATCATTGCTCAGATGTTTCC	0.458000													51	224					0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152763354	152763354	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:152763354C>G	ENST00000367255.5	-	31	4465	c.3864G>C	c.(3862-3864)aaG>aaC	p.K1288N	SYNE1_ENST00000423061.1_Missense_Mutation_p.K1295N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1288N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1288N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1288N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1295N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1278N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1354N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1288					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCTCTCTTCTTTGCTGAGA	0.532000										HNSCC(10;0.0054)			11	76					0	0	0.010729	0	0
FXN	2395	broad.mit.edu	37	9	71687670	71687670	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:71687670G>C	ENST00000377270.3	+	5	1149	c.625G>C	c.(625-627)Gat>Cat	p.D209H	FXN_ENST00000396366.2_3'UTR|FXN_ENST00000498653.1_Missense_Mutation_p.D134H|FXN_ENST00000396364.3_Intron	NM_000144.4	NP_000135.2	Q16595	FRDA_HUMAN	frataxin	209					cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding	p.D209H(1)		large_intestine(1)|lung(1)	2						TTCCGGAAAAGATGCTTGATG	0.498000													15	62					0	0	0.003163	0	0
ZNF547	284306	broad.mit.edu	37	19	57888907	57888907	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:57888907A>G	ENST00000282282.3	+	4	713	c.563A>G	c.(562-564)aAa>aGa	p.K188R	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGTGCAGCAAATGTGGGATA	0.413000													22	58					0	0	0.003330	0	0
IQSEC2	23096	broad.mit.edu	37	X	53284025	53284025	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:53284025A>T	ENST00000396435.3	-	4	1288	c.1088T>A	c.(1087-1089)aTg>aAg	p.M363K	IQSEC2_ENST00000375368.5_Missense_Mutation_p.M353K|IQSEC2_ENST00000375365.2_Missense_Mutation_p.M158K	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	353	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTTCTTGTTCATGCGGTACTG	0.587000													5	19					0	0	0.001984	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32917434	32917434	+	Silent	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:32917434A>T	ENST00000361627.3	+	5	1427	c.705A>T	c.(703-705)gcA>gcT	p.A235A	ARHGAP11A_ENST00000543522.1_Silent_p.A46A|ARHGAP11A_ENST00000563864.1_Silent_p.A235A|ARHGAP11A_ENST00000565905.1_Silent_p.A46A|ARHGAP11A_ENST00000567348.1_Silent_p.A235A	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	235	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TCGATTATGCATCAGATATTG	0.343000													8	19					0	0	0.003080	0	0
KIF1B	23095	broad.mit.edu	37	1	10327466	10327466	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:10327466G>C	ENST00000377086.1	+	6	660	c.458G>C	c.(457-459)aGa>aCa	p.R153T	KIF1B_ENST00000263934.6_Missense_Mutation_p.R153T|KIF1B_ENST00000377083.1_Missense_Mutation_p.R153T|KIF1B_ENST00000377081.1_Missense_Mutation_p.R153T|KIF1B_ENST00000377093.4_Missense_Mutation_p.R153T			O60333	KIF1B_HUMAN	kinesin family member 1B	153	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TACTGTGAAAGAGTACGAGAT	0.433000													4	50					0	0	0.001168	0	0
STAG2	10735	broad.mit.edu	37	X	123190075	123190075	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:123190075C>G	ENST00000371160.1	+	14	1584	c.1294C>G	c.(1294-1296)Ctc>Gtc	p.L432V	STAG2_ENST00000218089.9_Missense_Mutation_p.L432V|STAG2_ENST00000371144.3_Missense_Mutation_p.L432V|STAG2_ENST00000371145.3_Missense_Mutation_p.L432V|STAG2_ENST00000371157.3_Missense_Mutation_p.L432V|STAG2_ENST00000354548.5_Missense_Mutation_p.L363V|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	432					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGGAGAATTTCTCTACAAAAA	0.328000													19	40					0	0	0.008871	0	0
OR7C2	26658	broad.mit.edu	37	19	15052879	15052879	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:15052879C>A	ENST00000248072.3	+	1	579	c.579C>A	c.(577-579)ttC>ttA	p.F193L		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CTGACACCTTCATCAATAACA	0.428000													21	53					2.4624e-09	2.74988e-09	0.008871	1	0
PMPCA	23203	broad.mit.edu	37	9	139311650	139311650	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:139311650C>T	ENST00000371717.3	+	7	890	c.881C>T	c.(880-882)aCt>aTt	p.T294I	PMPCA_ENST00000399219.3_Missense_Mutation_p.T163I|PMPCA_ENST00000462616.1_3'UTR	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	294					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCCCAGTACACTGGGGGGATT	0.612000													11	23					0	0	0.008291	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22280100	22280100	+	RNA	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:22280100G>C	ENST00000390431.3	+	0	289																											CTTGGAGAAAGACTCAGTTCA	0.498000													4	43					0	0	0.009096	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427483	25427483	+	RNA	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:25427483C>T	ENST00000424208.1	+	0	272					NR_003305.1																						GTGGTGAGCACATCCGGATCC	0.577000													14	90					0	0	0.001855	0	0
KLHL20	27252	broad.mit.edu	37	1	173703135	173703135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:173703135G>T	ENST00000209884.4	+	3	443	c.307G>T	c.(307-309)Gag>Tag	p.E103*	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	103	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AGAATTGGCAGAGAGCCGTCA	0.478000													8	77					4.68919e-08	5.14953e-08	0.008291	1	0
TCHH	7062	broad.mit.edu	37	1	152080014	152080014	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:152080014C>G	ENST00000368804.1	-	2	5678	c.5679G>C	c.(5677-5679)caG>caC	p.Q1893H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1893	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGGTGCCTCTGTTCCTCCT	0.567000													7	170					0	0	0.003080	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	532599	532599	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:532599G>A	ENST00000262305.4	+	4	1366	c.978G>A	c.(976-978)gaG>gaA	p.E326E	RAB11FIP3_ENST00000457159.1_Silent_p.E326E|RAB11FIP3_ENST00000450428.1_Silent_p.E30E	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	326					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				TCACGGACGAGGACACCAGCA	0.652000													8	47					0	0	0.003080	0	0
PANK3	79646	broad.mit.edu	37	5	167993025	167993025	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:167993025C>A	ENST00000239231.6	-	3	944	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	210					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TACCTTGTCCCAGTCACTCGT	0.368000													46	80					8.72198e-27	1.09025e-26	0.014410	1	0
RBFOX1	54715	broad.mit.edu	37	16	7645563	7645563	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:7645563G>A	ENST00000340209.4	+	5	793	c.496G>A	c.(496-498)Gta>Ata	p.V166I	RBFOX1_ENST00000436368.2_Missense_Mutation_p.V181I|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V181I|RBFOX1_ENST00000550418.1_Missense_Mutation_p.V161I|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V181I|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V161I|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V204I|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V204I|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V161I|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V178I			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	161	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ATTTGGTTTCGTAACTTTCGA	0.443000													30	163					0	0	0.010818	0	0
GANAB	23193	broad.mit.edu	37	11	62397071	62397071	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:62397071G>A	ENST00000346178.4	-	16	1904	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	GANAB_ENST00000534779.1_Missense_Mutation_p.S516F|GANAB_ENST00000356638.3_Missense_Mutation_p.S608F|GANAB_ENST00000540933.1_Missense_Mutation_p.S511F	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	608					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						AAAGCGCTGGGAGCCAGCGAA	0.602000													7	26					0	0	0.004482	0	0
EXPH5	23086	broad.mit.edu	37	11	108385075	108385075	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:108385075C>G	ENST00000265843.4	-	6	1269	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	EXPH5_ENST00000443411.1_Missense_Mutation_p.E199Q|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.E380Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.E311Q	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	387					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCAGGAACTCTTCCTGGTTC	0.453000													12	244					0	0	0.002450	0	0
TSEN2	80746	broad.mit.edu	37	3	12531405	12531405	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:12531405G>C	ENST00000444864.1	+	2	493	c.106G>C	c.(106-108)Gaa>Caa	p.E36Q	TSEN2_ENST00000454502.2_Missense_Mutation_p.E36Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.E36Q|TSEN2_ENST00000402228.3_Missense_Mutation_p.E36Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.E36Q|TSEN2_ENST00000284995.6_Missense_Mutation_p.E36Q|TSEN2_ENST00000314571.7_Missense_Mutation_p.E36Q	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	36					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TCCTCTGAAAGAATTCAAGAT	0.448000													13	64					0	0	0.001855	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711819	155711819	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:155711819C>T	ENST00000295101.2	+	3	1977	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	500					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTGATCGCTTCACATAACAAA	0.398000													7	17					0	0	0.001984	0	0
TXNDC2	84203	broad.mit.edu	37	18	9888081	9888081	+	Silent	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr18:9888081T>C	ENST00000306084.6	+	2	1804	c.1605T>C	c.(1603-1605)gaT>gaC	p.D535D	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.D468D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	535	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAAAGGTGGATGAACTTTGCG	0.433000													11	27					0	0	0.001855	0	0
AGXT2	64902	broad.mit.edu	37	5	35037091	35037091	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:35037091C>G	ENST00000231420.6	-	4	642	c.442G>C	c.(442-444)Gaa>Caa	p.E148Q		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	148					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TCTGCATATTCATGCATTGGA	0.488000													8	75					0	0	0.008291	0	0
SMC3	9126	broad.mit.edu	37	10	112341740	112341740	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:112341740C>G	ENST00000361804.4	+	9	733	c.607C>G	c.(607-609)Cta>Gta	p.L203V	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	203					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATTACATACTCTAGAGGAAGA	0.378000													22	96					0	0	0.014323	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151214946	151214946	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:151214946C>G	ENST00000409426.1	+	13	1952	c.1507C>G	c.(1507-1509)Cag>Gag	p.Q503E	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.Q453E|PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.Q515E|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.Q475E			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	515					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTTTACCTCAGACTCCACC	0.453000													10	132					0	0	0.006214	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184802	130184802	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:130184802C>T	ENST00000422113.2	-	2	847	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	174						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCGGGTCTCTCGGAAAGCAAA	0.682000													4	19					0	0	0.009096	0	0
SYNE1	23345	broad.mit.edu	37	6	152668219	152668219	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:152668219G>A	ENST00000367255.5	-	73	12654	c.12053C>T	c.(12052-12054)tCa>tTa	p.S4018L	SYNE1_ENST00000423061.1_Missense_Mutation_p.S3947L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4018L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S3947L|SYNE1_ENST00000341594.5_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4018					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGATCGCTGAGTAGCTGTC	0.488000										HNSCC(10;0.0054)			8	52					0	0	0.003080	0	0
MTR	4548	broad.mit.edu	37	1	237057700	237057700	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:237057700C>G	ENST00000366577.5	+	30	3642	c.3248C>G	c.(3247-3249)tCa>tGa	p.S1083*	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Nonsense_Mutation_p.S1032*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1083	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TACTGCCTCTCAGACTTCATC	0.572000													8	77					0	0	0.006214	0	0
BTBD9	114781	broad.mit.edu	37	6	38545402	38545402	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:38545402T>A	ENST00000481247.1	-	6	1279	c.1128A>T	c.(1126-1128)aaA>aaT	p.K376N	BTBD9_ENST00000314100.6_Missense_Mutation_p.K308N|BTBD9_ENST00000403056.1_Missense_Mutation_p.K376N|BTBD9_ENST00000419706.2_Missense_Mutation_p.K317N|BTBD9_ENST00000408958.1_Missense_Mutation_p.K308N	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	376					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GAAAATATAATTTCTGCCAAG	0.368000													18	79					0	0	0.008871	0	0
CST1	1469	broad.mit.edu	37	20	23729677	23729677	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:23729677G>A	ENST00000304749.2	-	2	388	c.318C>T	c.(316-318)ttC>ttT	p.F106F	CST1_ENST00000398402.1_Silent_p.F106F	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	106						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GCTGTTCATGGAAGGCACAGG	0.577000													53	60					0	0	0.014410	0	0
ITGA2	3673	broad.mit.edu	37	5	52362956	52362956	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:52362956G>C	ENST00000296585.5	+	16	2095	c.1952G>C	c.(1951-1953)aGt>aCt	p.S651T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	651					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGGTCACAAAGTATTGCTGAT	0.373000													9	46					0	0	0.006214	0	0
OTOGL	283310	broad.mit.edu	37	12	80655772	80655772	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:80655772G>C	ENST00000458043.2	+	18	1892	c.1886G>C	c.(1885-1887)gGt>gCt	p.G629A	OTOGL_ENST00000547103.1_Missense_Mutation_p.G629A	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGATAGAAGGTACACCACAA	0.403000													26	29					0	0	0.006320	0	0
CCDC181	57821	broad.mit.edu	37	1	169394108	169394108	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:169394108C>G	ENST00000545005.1	-	3	565	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E20Q|CCDC181_ENST00000367806.3_Missense_Mutation_p.E20Q					coiled-coil domain containing 181																		AGGTCCTTTTCAAAGTCATCT	0.279000													9	75					0	0	0.006214	0	0
FAM179B	23116	broad.mit.edu	37	14	45431916	45431916	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:45431916C>G	ENST00000361462.2	+	1	475	c.292C>G	c.(292-294)Cgg>Ggg	p.R98G	FAM179B_ENST00000382233.2_Missense_Mutation_p.R98G|FAM179B_ENST00000361577.3_Missense_Mutation_p.R98G			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	98							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGAGGACACTCGGCTCCTTCA	0.642000													7	116					0	0	0.001984	0	0
ZNF223	7766	broad.mit.edu	37	19	44570525	44570525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:44570525G>T	ENST00000591793.1	+	7	957	c.874G>T	c.(874-876)Gga>Tga	p.G292*	ZNF223_ENST00000434772.3_Nonsense_Mutation_p.G182*			Q9UK11	ZN223_HUMAN	zinc finger protein 223	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G182*(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGATGAGTGTGGAAAAAGCTT	0.428000													44	117					1.67753e-36	2.13739e-36	0.014410	1	0
LIFR	3977	broad.mit.edu	37	5	38510737	38510737	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:38510737G>C	ENST00000263409.4	-	7	982	c.820C>G	c.(820-822)Caa>Gaa	p.Q274E	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.Q274E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	274					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACTTTTTCTTGACTCACACAA	0.378000			T	PLAG1	salivary adenoma								10	54					0	0	0.008291	0	0
SPECC1	92521	broad.mit.edu	37	17	20108581	20108581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:20108581G>T	ENST00000395530.2	+	2	1184	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	SPECC1_ENST00000395525.3_Nonsense_Mutation_p.E326*|SPECC1_ENST00000261503.5_Nonsense_Mutation_p.E407*|SPECC1_ENST00000395522.2_Nonsense_Mutation_p.E326*|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Nonsense_Mutation_p.E407*|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Nonsense_Mutation_p.E407*|SPECC1_ENST00000472876.1_Intron	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	407	Ser-rich.					nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AATGGTACAGGAATTGACAGC	0.418000													14	53					0.00244969	0.00251838	0.002450	1	0
CCBL1	883	broad.mit.edu	37	9	131600361	131600361	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:131600361C>A	ENST00000436267.2	-	7	838	c.689G>T	c.(688-690)gGg>gTg	p.G230V	CCBL1_ENST00000320665.6_Missense_Mutation_p.G86V|CCBL1_ENST00000302586.3_Missense_Mutation_p.G136V|CCBL1_ENST00000483599.1_5'UTR			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	136					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	AGGACGACCCCCTGCCATCAT	0.547000													68	117					1.7488e-33	2.21112e-33	0.014410	1	0
CUL7	9820	broad.mit.edu	37	6	43019473	43019473	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:43019473C>G	ENST00000535468.1	-	3	947	c.861G>C	c.(859-861)ctG>ctC	p.L287L	CUL7_ENST00000265348.3_Silent_p.L203L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	203					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTGTTGGCTCAGTGACAGAA	0.512000													12	164					0	0	0.001855	0	0
SBF2	81846	broad.mit.edu	37	11	9810801	9810801	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:9810801C>G	ENST00000256190.8	-	35	4924	c.4787G>C	c.(4786-4788)tGg>tCg	p.W1596S	SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1596					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)		TAGCATCATCCAGTCATAGGA	0.517000													11	90					0	0	0.013537	0	0
CAST	831	broad.mit.edu	37	5	96093323	96093323	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:96093323G>A	ENST00000395813.1	+	24	1984	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	CAST_ENST00000359176.4_Missense_Mutation_p.E581K|CAST_ENST00000511782.1_Missense_Mutation_p.E503K|CAST_ENST00000515663.1_Missense_Mutation_p.E240K|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000511049.1_Missense_Mutation_p.E503K|CAST_ENST00000309190.5_Missense_Mutation_p.E495K|CAST_ENST00000508608.1_Missense_Mutation_p.E563K|CAST_ENST00000509903.1_Missense_Mutation_p.E482K|CAST_ENST00000508830.1_Missense_Mutation_p.E600K|CAST_ENST00000338252.3_Missense_Mutation_p.E504K|CAST_ENST00000341926.3_Missense_Mutation_p.E517K|CAST_ENST00000395812.2_Missense_Mutation_p.E559K|CAST_ENST00000508579.1_Missense_Mutation_p.E232K|CAST_ENST00000504465.1_Missense_Mutation_p.E445K|CAST_ENST00000510756.1_Missense_Mutation_p.E578K|CAST_ENST00000325674.7_Missense_Mutation_p.E565K			P20810	ICAL_HUMAN	calpastatin	517							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGCTTTGTCTGAGGACTTCTC	0.383000													12	59					0	0	0.001855	0	0
EMR2	30817	broad.mit.edu	37	19	14876338	14876338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:14876338G>A	ENST00000315576.3	-	9	1277	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	EMR2_ENST00000594076.1_Nonsense_Mutation_p.Q183*|EMR2_ENST00000353005.1_Nonsense_Mutation_p.Q134*|EMR2_ENST00000595839.1_Nonsense_Mutation_p.Q134*|EMR2_ENST00000596991.2_Nonsense_Mutation_p.Q276*|EMR2_ENST00000594294.1_Nonsense_Mutation_p.Q227*|EMR2_ENST00000601345.1_Nonsense_Mutation_p.Q276*|EMR2_ENST00000392965.3_Nonsense_Mutation_p.Q276*|EMR2_ENST00000392967.2_Nonsense_Mutation_p.Q276*|EMR2_ENST00000392964.3_Nonsense_Mutation_p.Q15*|EMR2_ENST00000353876.1_Nonsense_Mutation_p.Q183*|EMR2_ENST00000346057.1_Nonsense_Mutation_p.Q227*	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	276					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCACTCACCTGGCTGTGGACT	0.612000													4	22					0	0	0.001168	0	0
RYR2	6262	broad.mit.edu	37	1	237660045	237660045	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:237660045C>G	ENST00000366574.2	+	20	2513	c.2196C>G	c.(2194-2196)ctC>ctG	p.L732L	RYR2_ENST00000360064.6_Silent_p.L730L|RYR2_ENST00000542537.1_Silent_p.L716L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	732	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCTTCATCTCTGGTCAGGTA	0.473000													25	155					0	0	0.005443	0	0
ZNF562	54811	broad.mit.edu	37	19	9763741	9763741	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:9763741G>C	ENST00000448622.1	-	6	1327	c.1165C>G	c.(1165-1167)Caa>Gaa	p.Q389E	ZNF562_ENST00000453792.2_Missense_Mutation_p.Q320E|ZNF562_ENST00000453372.2_Missense_Mutation_p.Q389E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q273E|ZNF562_ENST00000293648.4_Missense_Mutation_p.Q317E|ZNF562_ENST00000541032.1_Missense_Mutation_p.Q352E|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q388E	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTCTATGTTGAGTAAGCGTT	0.408000													13	45					0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179433143	179433143	+	Missense_Mutation	SNP	C	C	T	rs56341835		TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:179433143C>T	ENST00000589042.1	-	326	77940	c.77716G>A	c.(77716-77718)Gaa>Aaa	p.E25906K	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16966K|TTN_ENST00000342992.6_Missense_Mutation_p.E23338K|TTN_ENST00000342175.6_Missense_Mutation_p.E17033K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24265K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16841K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24265	Fibronectin type-III 88.						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)			GTAATACTTTCAGCACTGACG	0.408000													4	21					0	0	0.000602	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340366	100340366	+	RNA	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:100340366G>T	ENST00000341853.1	-	0	560					NR_003260.1																						TCGTCGCGCCGCTGTGCCTAC	0.607000													7	12					0.000157383	0.000164878	0.003080	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736861	140736861	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:140736861C>T	ENST00000571252.1	+	1	2094	c.2094C>T	c.(2092-2094)gcC>gcT	p.A698A	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAGTGGCCGCTGTCTCCT	0.607000													16	29					0	0	0.007413	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826425	43826425	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:43826425C>A	ENST00000389420.3	-	20	2909	c.2910G>T	c.(2908-2910)tgG>tgT	p.W970C	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.W124C|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W970C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	970	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGAATAATGCCATCTTGTGA	0.368000													16	21					9.16793e-09	1.01354e-08	0.004990	1	0
YY2	404281	broad.mit.edu	37	X	21875591	21875591	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:21875591C>G	ENST00000429584.2	+	1	1487	c.989C>G	c.(988-990)aCa>aGa	p.T330R	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	330	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	p.T330I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AATTTGCGCACACACTTGCGC	0.527000													54	263					0	0	0.014410	0	0
TENC1	23371	broad.mit.edu	37	12	53457028	53457028	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:53457028G>A	ENST00000314250.6	+	26	4269	c.3979G>A	c.(3979-3981)Gac>Aac	p.D1327N	TENC1_ENST00000549700.1_Missense_Mutation_p.D1262N|TENC1_ENST00000546602.1_Missense_Mutation_p.D1230N|TENC1_ENST00000379902.3_Missense_Mutation_p.D1203N|TENC1_ENST00000552570.1_Missense_Mutation_p.D1325N|TENC1_ENST00000314276.3_Missense_Mutation_p.D1337N|TENC1_ENST00000451358.1_Missense_Mutation_p.D1317N	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1327					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TACACTGACGGACAACCAAAG	0.582000													18	55					0	0	0.008871	0	0
RPS4X	6191	broad.mit.edu	37	X	71496038	71496038	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:71496038T>C	ENST00000316084.6	-	2	154	c.50A>G	c.(49-51)cAt>cGt	p.H17R	RPS4X_ENST00000373626.3_Missense_Mutation_p.H17R|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	17					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					CAGCATCCAATGCTTTGGAGC	0.428000													3	36					0	0	0.000602	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42321413	42321413	+	Silent	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:42321413A>G	ENST00000291232.3	-	3	557	c.513T>C	c.(511-513)acT>acC	p.T171T		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	171						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						TCACCAGTTCAGTGGAGCCCA	0.677000													19	24					0	0	0.014323	0	0
SPAG4	6676	broad.mit.edu	37	20	34207574	34207574	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:34207574G>A	ENST00000374273.3	+	10	1095	c.983G>A	c.(982-984)cGa>cAa	p.R328Q		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	328	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTGCCGGGCCGAGTGCAGCTG	0.652000													16	50					0	0	0.004007	0	0
LRP12	29967	broad.mit.edu	37	8	105510107	105510107	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:105510107G>A	ENST00000276654.5	-	5	781	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	LRP12_ENST00000424843.2_Missense_Mutation_p.R206C	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	225	LDL-receptor class A 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.R225S(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGTAAAACGGGATAAACAC	0.448000													45	96					0	0	0.014410	0	0
MDGA1	266727	broad.mit.edu	37	6	37622594	37622594	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:37622594G>A	ENST00000434837.2	-	5	1872	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	MDGA1_ENST00000505425.1_Missense_Mutation_p.R232W|MDGA1_ENST00000297153.7_Missense_Mutation_p.R232W	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	232					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TTGGTGAGCCGGAAGGTGATG	0.592000													58	153					0	0	0.014410	0	0
KLF5	688	broad.mit.edu	37	13	73636220	73636220	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr13:73636220C>G	ENST00000377687.4	+	2	1019	c.483C>G	c.(481-483)atC>atG	p.I161M	KLF5_ENST00000539231.1_Missense_Mutation_p.I70M|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	161					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TAACACACATCAAGACAGAAC	0.527000													8	91					0	0	0.003080	0	0
KIFC1	3833	broad.mit.edu	37	6	33373380	33373380	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:33373380G>A	ENST00000428849.2	+	7	1958	c.1508G>A	c.(1507-1509)cGa>cAa	p.R503Q		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	503	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						ACCAATGCTCGATATGTCCCT	0.612000													6	26					0	0	0.001168	0	0
MYB	4602	broad.mit.edu	37	6	135511330	135511330	+	Silent	SNP	G	G	T	rs139729764		TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:135511330G>T	ENST00000341911.5	+	5	571	c.372G>T	c.(370-372)ggG>ggT	p.G124G	MYB_ENST00000367814.4_Silent_p.G124G|MYB_ENST00000525369.1_Silent_p.G124G|MYB_ENST00000534044.1_Silent_p.G124G|MYB_ENST00000528774.1_Silent_p.G124G|MYB_ENST00000442647.2_Silent_p.G124G|MYB_ENST00000533624.1_Silent_p.G124G|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Silent_p.G124G|MYB_ENST00000420123.2_Silent_p.G100G|MYB_ENST00000316528.8_Silent_p.G124G|MYB_ENST00000527615.1_Silent_p.G124G	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	124	HTH myb-type 2.|Interaction with HIPK2 and NLK (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		ACTTAAAGGGGAGAATTGGAA	0.398000			T	NFIB	adenoid cystic carcinoma								7	92					5.18039e-06	5.55944e-06	0.003080	1	0
TGFB1I1	7041	broad.mit.edu	37	16	31488304	31488304	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:31488304C>G	ENST00000394863.3	+	10	1222	c.1092C>G	c.(1090-1092)ctC>ctG	p.L364L	TGFB1I1_ENST00000567607.1_Silent_p.L347L|TGFB1I1_ENST00000394858.2_Silent_p.L347L|TGFB1I1_ENST00000361773.3_Silent_p.L347L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	364	LIM zinc-binding 3.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						TCAGCGCGCTCTGGCACCCGG	0.716000													3	8					0	0	0.004672	0	0
GATA5	140628	broad.mit.edu	37	20	61048574	61048574	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:61048574A>C	ENST00000252997.2	-	3	645	c.584T>G	c.(583-585)cTg>cGg	p.L195R		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	195					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CGGTGTGGACAGGGCCCCGCA	0.672000													3	5					0	0	0.009096	0	0
TPX2	22974	broad.mit.edu	37	20	30345357	30345357	+	Silent	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:30345357A>T	ENST00000340513.4	+	3	606	c.78A>T	c.(76-78)ggA>ggT	p.G26G	TPX2_ENST00000300403.6_Silent_p.G26G			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	26					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATGATGAAGGAGATACTCAAA	0.393000													27	41					0	0	0.006320	0	0
NEGR1	257194	broad.mit.edu	37	1	71873215	71873215	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:71873215C>T	ENST00000357731.4	-	7	1218	c.979G>A	c.(979-981)Gat>Aat	p.D327N	NEGR1_ENST00000434200.1_Missense_Mutation_p.D281N|NEGR1_ENST00000306821.3_Missense_Mutation_p.D199N|ZRANB2-AS2_ENST00000430605.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	327					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AAAAGAACATCAGCGCTCCCG	0.403000													10	36					0	0	0.010729	0	0
VAX2	25806	broad.mit.edu	37	2	71160154	71160154	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:71160154G>A	ENST00000234392.2	+	3	725	c.693G>A	c.(691-693)ccG>ccA	p.P231P		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	231					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GCCTCAACCCGCTGTCCTCGG	0.692000													16	41					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179456184	179456184	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:179456184C>A	ENST00000589042.1	-	304	60492	c.60268G>T	c.(60268-60270)Gta>Tta	p.V20090L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V11150L|TTN_ENST00000342992.6_Missense_Mutation_p.V17522L|TTN_ENST00000342175.6_Missense_Mutation_p.V11217L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V18449L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V11025L|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18449	Fibronectin type-III 45.						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)			CCAGCCTTTACCACAAGACCT	0.393000													81	174					7.3878e-23	9.07998e-23	0.014410	1	0
MAP3K7	6885	broad.mit.edu	37	6	91281451	91281451	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:91281451C>G	ENST00000369329.3	-	2	357	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	MAP3K7_ENST00000369332.3_Missense_Mutation_p.E66Q|MAP3K7_ENST00000369325.3_Missense_Mutation_p.E66Q|MAP3K7_ENST00000369327.3_Missense_Mutation_p.E66Q	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	66	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GATTCACTTTCTATTTGTTTA	0.333000													8	57					0	0	0.008291	0	0
PTX3	5806	broad.mit.edu	37	3	157160592	157160592	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:157160592G>C	ENST00000295927.3	+	3	1115	c.970G>C	c.(970-972)Gat>Cat	p.D324H	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	324	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGGTGGCTTTGATGAAACATT	0.493000													10	88					0	0	0.008291	0	0
CDS2	8760	broad.mit.edu	37	20	5170746	5170746	+	Splice_Site	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:5170746A>G	ENST00000460006.1	+	13	1512		c.e13-1		CDS2_ENST00000379062.4_Splice_Site|CDS2_ENST00000535100.1_Splice_Site|CDS2_ENST00000379070.3_Splice_Site	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2						phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ATTCTGTTCCAGAGGCCCTAA	0.512000													22	28					0	0	0.014323	0	0
NELL1	4745	broad.mit.edu	37	11	21594939	21594939	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:21594939C>A	ENST00000298925.5	+	20	2603	c.2450C>A	c.(2449-2451)aCa>aAa	p.T817K	NELL1_ENST00000357134.5_Missense_Mutation_p.T789K|NELL1_ENST00000325319.5_Missense_Mutation_p.T732K|NELL1_ENST00000532434.1_Missense_Mutation_p.T742K|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	789					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCTCCCTGCACAACCTGTAAA	0.468000													29	71					3.73148e-12	4.29055e-12	0.007291	1	0
FIBP	9158	broad.mit.edu	37	11	65655442	65655442	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:65655442G>T	ENST00000338369.2	-	2	359	c.247C>A	c.(247-249)Cag>Aag	p.Q83K	FIBP_ENST00000533045.1_Missense_Mutation_p.Q80K|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Missense_Mutation_p.Q83K	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	83					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		GGCGGAATCTGGAAGATGAGC	0.597000													7	25					0.000442599	0.000461478	0.006214	1	0
GLI1	2735	broad.mit.edu	37	12	57863408	57863408	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:57863408C>G	ENST00000228682.2	+	11	1594	c.1503C>G	c.(1501-1503)ctC>ctG	p.L501L	GLI1_ENST00000543426.1_Silent_p.L373L|GLI1_ENST00000546141.1_Silent_p.L460L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	501					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.L501L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TTGAGAACCTCAGGCTGGACC	0.617000													19	58					0	0	0.008871	0	0
LRRC2	79442	broad.mit.edu	37	3	46574379	46574379	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:46574379C>G	ENST00000395905.3	-	5	903	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	LRRC2_ENST00000296144.3_Missense_Mutation_p.E171Q	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	171								p.E171*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ACATTGAGTTCTTTCAGGTTC	0.348000													17	78					0	0	0.008871	0	0
ORAI1	84876	broad.mit.edu	37	12	122064796	122064796	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:122064796C>G	ENST00000330079.7	+	1	342	c.149C>G	c.(148-150)tCc>tGc	p.S50C		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	48					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		ccgccgccgtccgccgtcacc	0.741000													5	16					0	0	0.000602	0	0
STK25	10494	broad.mit.edu	37	2	242438131	242438131	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:242438131G>C	ENST00000316586.4	-	8	1189	c.840C>G	c.(838-840)ctC>ctG	p.L280L	STK25_ENST00000403346.3_Silent_p.L280L|STK25_ENST00000543554.1_Silent_p.L186L|STK25_ENST00000535007.1_Silent_p.L186L|STK25_ENST00000405585.1_Silent_p.L203L|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405883.3_Silent_p.L203L|STK25_ENST00000401869.1_Silent_p.L280L	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	280					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TGAGCTCCGTGAGGAAGGAGG	0.577000													15	59					0	0	0.006122	0	0
SI	6476	broad.mit.edu	37	3	164793764	164793764	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:164793764G>A	ENST00000264382.3	-	2	99	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	13					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGGACAATCAGAGAGATTTCC	0.279000										HNSCC(35;0.089)			12	72					0	0	0.013537	0	0
KIF2A	3796	broad.mit.edu	37	5	61651013	61651013	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:61651013G>A	ENST00000381103.2	+	8	1011	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	KIF2A_ENST00000506857.1_Missense_Mutation_p.E150K|KIF2A_ENST00000401507.3_Missense_Mutation_p.E196K|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.E196K	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	196	Globular (Potential).				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CCCAAATTATGAAATTATGTG	0.299000													17	54					0	0	0.008871	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518384	84518384	+	RNA	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:84518384G>C	ENST00000331369.5	+	0	578																											CTTTCTGCTTGGCATGGCATC	0.468000													45	102					0	0	0.014410	0	0
ZNF483	158399	broad.mit.edu	37	9	114304757	114304757	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:114304757G>C	ENST00000309235.5	+	6	1700	c.1542G>C	c.(1540-1542)caG>caC	p.Q514H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	514					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TTAAACATCAGAGAATTCATA	0.408000													16	55					0	0	0.004007	0	0
MLXIP	22877	broad.mit.edu	37	12	122623049	122623049	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:122623049G>A	ENST00000319080.6	+	14	2467	c.2335G>A	c.(2335-2337)Gag>Aag	p.E779K	MLXIP_ENST00000538698.1_Missense_Mutation_p.E386K			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	779	Leucine-zipper.				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)		GATGCAGGAGGAGGCCCGGCG	0.627000													8	21					0	0	0.003080	0	0
BBOX1	8424	broad.mit.edu	37	11	27141315	27141315	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:27141315C>T	ENST00000263182.3	+	7	1127	c.759C>T	c.(757-759)tcC>tcT	p.S253S	BBOX1_ENST00000525090.1_Silent_p.S253S|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000529202.1_Silent_p.S253S|BBOX1_ENST00000528583.1_Silent_p.S253S|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	253					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	AGATTTTGTCCTCTACCTTTG	0.333000													13	42					0	0	0.002450	0	0
NEB	4703	broad.mit.edu	37	2	152500536	152500536	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:152500536C>T	ENST00000397345.3	-	57	7954	c.7752G>A	c.(7750-7752)caG>caA	p.Q2584Q	NEB_ENST00000409198.1_Silent_p.Q2584Q|NEB_ENST00000172853.10_Silent_p.Q2584Q|NEB_ENST00000603639.1_Silent_p.Q2584Q|NEB_ENST00000604864.1_Silent_p.Q2584Q|NEB_ENST00000427231.2_Silent_p.Q2584Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2584					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCTGTCACTCTGGATCTTGG	0.542000													140	292					0	0	0.014410	0	0
STT3A	3703	broad.mit.edu	37	11	125483032	125483032	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:125483032T>A	ENST00000392708.4	+	13	1673	c.1514T>A	c.(1513-1515)tTc>tAc	p.F505Y	STT3A_ENST00000529196.1_Missense_Mutation_p.F505Y|STT3A_ENST00000531491.1_Missense_Mutation_p.F413Y	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	505					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTTGATGACTTCCGAGAAGCA	0.483000													39	33					0	0	0.011902	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901621	160901621	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:160901621G>C	ENST00000283243.7	-	2	363	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E	PLA2R1_ENST00000392771.1_Missense_Mutation_p.Q53E	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	53	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTACCTGCTTGAATGCATTTC	0.378000													7	49					0	0	0.003080	0	0
PACSIN2	11252	broad.mit.edu	37	22	43287087	43287087	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:43287087C>T	ENST00000263246.3	-	4	520	c.319G>A	c.(319-321)Gat>Aat	p.D107N	PACSIN2_ENST00000402229.1_Missense_Mutation_p.D107N|PACSIN2_ENST00000403744.3_Missense_Mutation_p.D107N|PACSIN2_ENST00000337959.4_Missense_Mutation_p.D107N|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000407585.1_Missense_Mutation_p.D107N	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	107					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TCGAAGTCATCGTTCATCAGT	0.572000													11	41					0	0	0.013537	0	0
LPHN3	23284	broad.mit.edu	37	4	62845391	62845391	+	Silent	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:62845391G>T	ENST00000512091.1	+	17	3459	c.2712G>T	c.(2710-2712)ggG>ggT	p.G904G	LPHN3_ENST00000506720.1_Silent_p.G972G|LPHN3_ENST00000506700.1_Silent_p.G904G|LPHN3_ENST00000509896.1_Silent_p.G972G|LPHN3_ENST00000506746.1_Silent_p.G972G|LPHN3_ENST00000508693.1_Silent_p.G972G|LPHN3_ENST00000507164.1_Silent_p.G972G|LPHN3_ENST00000545650.1_Silent_p.G904G|LPHN3_ENST00000511324.1_Silent_p.G972G|LPHN3_ENST00000514996.1_Silent_p.G904G|LPHN3_ENST00000514591.1_Silent_p.G904G|LPHN3_ENST00000508946.1_Silent_p.G904G|LPHN3_ENST00000504896.1_Silent_p.G904G|LPHN3_ENST00000514157.1_Silent_p.G904G|LPHN3_ENST00000507625.1_Silent_p.G972G			Q9HAR2	LPHN3_HUMAN	latrophilin 3	891					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTTCCGGGGGCTCCAGAGTG	0.498000													72	85					3.41413e-29	4.29205e-29	0.014410	1	0
HBD	3045	broad.mit.edu	37	11	5254244	5254244	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:5254244G>C	ENST00000380299.3	-	3	608	c.394C>G	c.(394-396)Cag>Gag	p.Q132E	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	132					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCACCTTCTGATAGGCAGCC	0.522000													16	79					0	0	0.003163	0	0
GPR112	139378	broad.mit.edu	37	X	135429886	135429886	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:135429886C>T	ENST00000394143.1	+	6	4312	c.4021C>T	c.(4021-4023)Cca>Tca	p.P1341S	GPR112_ENST00000412101.1_Missense_Mutation_p.P1136S|GPR112_ENST00000394141.1_Missense_Mutation_p.P1136S|GPR112_ENST00000287534.4_Missense_Mutation_p.P1278S|GPR112_ENST00000370652.1_Missense_Mutation_p.P1341S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1341					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAGATTACACCAACCTTGAC	0.473000													38	45					0	0	0.005524	0	0
MS4A6A	64231	broad.mit.edu	37	11	59940556	59940556	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:59940556A>G	ENST00000528851.1	-	6	736	c.596T>C	c.(595-597)cTa>cCa	p.L199P	MS4A6A_ENST00000412309.2_Missense_Mutation_p.L227P|MS4A6A_ENST00000529054.1_Missense_Mutation_p.L227P|MS4A6A_ENST00000323961.3_Missense_Mutation_p.L199P|MS4A6A_ENST00000426738.2_Missense_Mutation_p.L154P|MS4A6A_ENST00000420732.2_Silent_p.P164P|MS4A6A_ENST00000530839.1_Missense_Mutation_p.L199P|MS4A6A_ENST00000533023.1_Silent_p.P100P			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	199						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGCACAGCTAGGCAGAATTC	0.488000													26	80					0	0	0.009535	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400759	11400759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:11400759C>A	ENST00000002596.5	-	2	2045	c.871G>T	c.(871-873)Gag>Tag	p.E291*		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	291						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TTATTTGGCTCATGAAAATAT	0.488000													41	105					8.01111e-26	9.9761e-26	0.010771	1	0
KRT16P6	353194	broad.mit.edu	37	17	16723374	16723374	+	RNA	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:16723374G>A	ENST00000417510.1	-	0	745																											CATTGATGTCGGCCCCCACAC	0.567000													5	68					0	0	0.001168	0	0
EGR2	1959	broad.mit.edu	37	10	64573000	64573000	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:64573000G>A	ENST00000242480.3	-	2	1723	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	EGR2_ENST00000411732.1_Silent_p.L416L|EGR2_ENST00000439032.1_Silent_p.L466L	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	466					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCAAGGGGCGAGCGGCCCTC	0.652000													17	73					0	0	0.004990	0	0
C1orf192	257177	broad.mit.edu	37	1	161334856	161334856	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:161334856G>C	ENST00000367974.1	-	5	438	c.433C>G	c.(433-435)Cca>Gca	p.P145A		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	145										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGGGAGCTTGGAATTATGGTT	0.488000													21	140					0	0	0.008871	0	0
KLHL34	257240	broad.mit.edu	37	X	21674331	21674331	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:21674331C>A	ENST00000379499.2	-	1	2117	c.1576G>T	c.(1576-1578)Ggc>Tgc	p.G526C		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	526										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AACACAGCGCCGCGCAGCACT	0.647000													3	5					6.4e-05	6.7584e-05	0.004672	1	0
OR11G2	390439	broad.mit.edu	37	14	20665870	20665870	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:20665870G>C	ENST00000357366.3	+	1	376	c.376G>C	c.(376-378)Gac>Cac	p.D126H		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTCCTCTCTGACACCAAGAT	0.498000													12	49					0	0	0.010729	0	0
CD1D	912	broad.mit.edu	37	1	158151368	158151368	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:158151368C>T	ENST00000368171.3	+	3	684	c.185C>T	c.(184-186)tCg>tTg	p.S62L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	62					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCAACGACTCGGACACCGTC	0.622000													21	232					0	0	0.014323	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212565	26212565	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:26212565C>A	ENST00000379034.1	+	2	751	c.602C>A	c.(601-603)aCg>aAg	p.T201K		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	201	MAGE.							p.T201M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGGCGTGCACGTTGGCGCAA	0.483000													39	100					1.49673e-21	1.82259e-21	0.006230	1	0
AKR1B10	57016	broad.mit.edu	37	7	134222405	134222405	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:134222405G>A	ENST00000359579.4	+	7	1053	c.733G>A	c.(733-735)Gca>Aca	p.A245T		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	245					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CAAAAAAACCGCAGCCCAGGT	0.448000													14	60					0	0	0.003163	0	0
YBX3	8531	broad.mit.edu	37	12	10865907	10865907	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:10865907C>T	ENST00000228251.4	-	5	676	c.476G>A	c.(475-477)gGc>gAc	p.G159D	YBX3_ENST00000279550.7_Missense_Mutation_p.G159D	NM_003651.4	NP_003642.3			Y box binding protein 3																		TCCATCCGGGCCAGTCACATT	0.502000													50	77					0	0	0.014410	0	0
IER2	9592	broad.mit.edu	37	19	13264100	13264100	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:13264100C>T	ENST00000588173.1	+	1	1312	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Silent_p.L34L|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Silent_p.L34L			Q9BTL4	IER2_HUMAN	immediate early response 2	34										kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GCACCGGAGTCTGCAGCTGTC	0.667000											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	0.001168	0	0
TIGD3	220359	broad.mit.edu	37	11	65124468	65124468	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:65124468G>A	ENST00000309880.5	+	2	1396	c.1189G>A	c.(1189-1191)Gac>Aac	p.D397N		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	397					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCGCTTTGTGGACCTGGAGGG	0.622000													19	71					0	0	0.007413	0	0
CHCHD7	79145	broad.mit.edu	37	8	57128978	57128978	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:57128978C>G	ENST00000518801.1	+	4	269	c.121C>G	c.(121-123)Ctt>Gtt	p.L41V	CHCHD7_ENST00000303759.3_Intron|CHCHD7_ENST00000521831.1_Missense_Mutation_p.L29V|CHCHD7_ENST00000523975.1_Intron|CHCHD7_ENST00000523061.1_Intron|CHCHD7_ENST00000521524.1_Missense_Mutation_p.L41V|CHCHD7_ENST00000519367.1_Missense_Mutation_p.L29V|CHCHD7_ENST00000396723.5_Intron|CHCHD7_ENST00000517933.1_Intron|CHCHD7_ENST00000355315.3_Intron			Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	0	CHCH.								CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			TGATGCCTCTCTTATATCTGT	0.368000			T	PLAG1	salivary adenoma								16	54					0	0	0.003163	0	0
HECW2	57520	broad.mit.edu	37	2	197105193	197105193	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:197105193G>A	ENST00000260983.2	-	21	3926	c.3744C>T	c.(3742-3744)gtC>gtT	p.V1248V	HECW2_ENST00000409111.1_Silent_p.V892V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1248	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CAACGAAGGTGACATATAGCT	0.473000													37	55					0	0	0.006999	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921577	78921577	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:78921577G>T	ENST00000261751.3	-	5	1181	c.1070C>A	c.(1069-1071)gCc>gAc	p.A357D	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	357					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GAAGGCTCTGGCCGGGCTGCT	0.637000													15	20					1.15088e-07	1.2555e-07	0.004007	1	0
AMPD2	271	broad.mit.edu	37	1	110168300	110168300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:110168300C>A	ENST00000256578.3	+	3	761	c.401C>A	c.(400-402)tCa>tAa	p.S134*	AMPD2_ENST00000342115.4_Nonsense_Mutation_p.S53*|AMPD2_ENST00000528667.1_Nonsense_Mutation_p.S134*|AMPD2_ENST00000528454.1_Nonsense_Mutation_p.S16*|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Nonsense_Mutation_p.S15*|AMPD2_ENST00000358729.4_Nonsense_Mutation_p.S59*	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	134					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTCACCCGCTCACTGGCTGAG	0.667000													5	38					0.000602214	0.000626911	0.000602	1	0
PIGA	5277	broad.mit.edu	37	X	15339736	15339736	+	Silent	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:15339736A>G	ENST00000333590.4	-	6	1431	c.1347T>C	c.(1345-1347)tcT>tcC	p.S449S	PIGA_ENST00000428964.1_Silent_p.S134S|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Silent_p.S215S	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	449					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CATCAATGATAGAATCTGGAG	0.428000													27	102					0	0	0.010818	0	0
ATRNL1	26033	broad.mit.edu	37	10	116889092	116889092	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:116889092C>G	ENST00000355044.3	+	5	750	c.624C>G	c.(622-624)atC>atG	p.I208M	ATRNL1_ENST00000527407.1_Missense_Mutation_p.I208M|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	208	CUB.|EGF-like 2.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTTACAGAATCAATTCTTGTC	0.303000													6	48					0	0	0.003080	0	0
PAX9	5083	broad.mit.edu	37	14	37132112	37132112	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:37132112C>A	ENST00000361487.6	+	2	240	c.15C>A	c.(13-15)ttC>ttA	p.F5L	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.F5L			P55771	PAX9_HUMAN	paired box 9	5	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.F5F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		AGCCAGCCTTCGGGGAGGTGA	0.662000													20	127					1.55795e-14	1.82637e-14	0.012319	1	0
PRKRIP1	79706	broad.mit.edu	37	7	102036862	102036862	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:102036862G>A	ENST00000496391.1	+	5	1314	c.4G>A	c.(4-6)Gct>Act	p.A2T	PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.A2T|PRKRIP1_ENST00000482465.1_Intron			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	2	Interaction with EIF2AK2 (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						GGCTGCCATGGCTAGCCCAGC	0.667000													8	4					0	0	0.003080	0	0
FCHSD2	9873	broad.mit.edu	37	11	72554227	72554227	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:72554227G>C	ENST00000409314.1	-	17	1914	c.1746C>G	c.(1744-1746)ctC>ctG	p.L582L	FCHSD2_ENST00000311172.7_Silent_p.L502L|FCHSD2_ENST00000409418.4_Silent_p.L558L|FCHSD2_ENST00000409263.1_5'UTR|FCHSD2_ENST00000458644.2_Silent_p.L422L|FCHSD2_ENST00000409853.1_Silent_p.L502L|ATG16L2_ENST00000534905.1_3'UTR			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	558	SH3 2.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TGCCTGAAACGAGTTCTGCTT	0.522000													6	46					0	0	0.001168	0	0
MMP16	4325	broad.mit.edu	37	8	89198707	89198707	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:89198707G>T	ENST00000286614.6	-	3	683	c.402C>A	c.(400-402)taC>taA	p.Y134*	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	134					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCTTATACCTGTAAGTGATGT	0.403000													69	139					3.89499e-28	4.87797e-28	0.014410	1	0
DUSP22	56940	broad.mit.edu	37	6	348125	348125	+	Missense_Mutation	SNP	G	G	A	rs138056339	byFrequency	TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:348125G>A	ENST00000419235.2	+	6	364	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.V96M|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	96	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V96M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CTCCAGGAGCGTGACACTGGT	0.612000													22	192					0	0	0.012319	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751042	140751042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:140751042G>T	ENST00000576222.1	+	1	1212	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGATGCTGAGCTGGGGAC	0.403000													8	15					5.18039e-06	5.55944e-06	0.003080	1	0
ZNF786	136051	broad.mit.edu	37	7	148768612	148768612	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:148768612C>T	ENST00000316286.9	-	3	1266	c.994G>A	c.(994-996)Gcg>Acg	p.A332T	ZNF786_ENST00000451334.3_Missense_Mutation_p.A381T|ZNF786_ENST00000491431.1_Missense_Mutation_p.A418T			Q8N393	ZN786_HUMAN	zinc finger protein 786	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACCGTGCGCGTGCTGGTGG	0.632000													4	24					0	0	0.000602	0	0
SYT11	23208	broad.mit.edu	37	1	155851236	155851236	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:155851236G>A	ENST00000368324.4	+	4	1486	c.1233G>A	c.(1231-1233)tgG>tgA	p.W411*	SYT11_ENST00000539162.1_Nonsense_Mutation_p.W104*	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	411						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CTGAACACTGGAGAGAGGTCT	0.587000													8	192					0	0	0.003080	0	0
FANCB	2187	broad.mit.edu	37	X	14883041	14883041	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:14883041G>C	ENST00000398334.1	-	3	859	c.592C>G	c.(592-594)Caa>Gaa	p.Q198E	FANCB_ENST00000324138.3_Missense_Mutation_p.Q198E	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	198					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GAAGGCTCTTGAGTACATTCT	0.333000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	131					0	0	0.008361	0	0
CD300E	342510	broad.mit.edu	37	17	72613371	72613371	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:72613371G>T	ENST00000392619.1	-	2	390	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	CD300E_ENST00000426295.2_Missense_Mutation_p.Q133K|CD300E_ENST00000328630.3_Missense_Mutation_p.Q92K	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	92	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TTGAGGTTCTGCATGGTCACA	0.542000													21	150					5.35356e-11	6.09198e-11	0.002780	1	0
PTPRD	5789	broad.mit.edu	37	9	8436648	8436648	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:8436648C>T	ENST00000381196.4	-	32	4573	c.4030G>A	c.(4030-4032)Gac>Aac	p.D1344N	PTPRD_ENST00000486161.1_Missense_Mutation_p.D937N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1344N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D938N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D937N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D937N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D934N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1344N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1331N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D934N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1322N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1344					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCAATGTGGTCTGCAAGTTCC	0.338000										TSP Lung(15;0.13)			10	48					0	0	0.010729	0	0
BTBD7	55727	broad.mit.edu	37	14	93720129	93720129	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:93720129C>G	ENST00000334746.5	-	7	1923	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T	BTBD7_ENST00000393170.2_Missense_Mutation_p.R113T|BTBD7_ENST00000554565.1_Missense_Mutation_p.R188T	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	539										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AATCAAGCCTCTTTTCATCta	0.289000													8	41					0	0	0.003080	0	0
RDH14	57665	broad.mit.edu	37	2	18736478	18736478	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:18736478C>T	ENST00000381249.3	-	2	1097	c.990G>A	c.(988-990)gtG>gtA	p.V330V	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					GGCCAACCATCACTTCACTGA	0.398000													19	104					0	0	0.010504	0	0
ESRRB	2103	broad.mit.edu	37	14	76906018	76906018	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:76906018G>T	ENST00000380887.2	+	2	394	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	ESRRB_ENST00000261532.7_Missense_Mutation_p.D108Y|ESRRB_ENST00000509242.1_Missense_Mutation_p.D108Y|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.D108Y			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGTGTGCGGGGACATTGCCTC	0.617000													25	9					1.64293e-13	1.91241e-13	0.003330	1	0
TNNI1	7135	broad.mit.edu	37	1	201383732	201383732	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:201383732C>T	ENST00000361379.4	-	5	195	c.103G>A	c.(103-105)Gag>Aag	p.E35K	TNNI1_ENST00000367312.1_Missense_Mutation_p.E35K|TNNI1_ENST00000555948.1_Missense_Mutation_p.E35K|TNNI1_ENST00000336092.4_Missense_Mutation_p.E35K	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	35	Involved in binding TNC.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						TCGCGCTCCTCGTGCTCCTGC	0.662000													13	46					0	0	0.001855	0	0
APOB	338	broad.mit.edu	37	2	21225915	21225915	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:21225915C>T	ENST00000233242.1	-	29	12506	c.12379G>A	c.(12379-12381)Gac>Aac	p.D4127N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4127					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AACCTCACGTCGATATCATCA	0.502000													12	135					0	0	0.001855	0	0
PTPRO	5800	broad.mit.edu	37	12	15637097	15637097	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:15637097C>T	ENST00000281171.4	+	2	595	c.265C>T	c.(265-267)Cat>Tat	p.H89Y	PTPRO_ENST00000543886.1_Missense_Mutation_p.H89Y|PTPRO_ENST00000348962.2_Missense_Mutation_p.H89Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	89	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGCCAGTTATCATGGCCTTTA	0.373000													9	50					0	0	0.006214	0	0
ZNF479	90827	broad.mit.edu	37	7	57187738	57187738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:57187738C>A	ENST00000331162.4	-	5	1654	c.1384G>T	c.(1384-1386)Gag>Tag	p.E462*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TAGGGTCTCTCTCCAGTATGA	0.423000													47	88					1.67211e-32	2.11012e-32	0.014410	1	0
BICD1	636	broad.mit.edu	37	12	32481160	32481160	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:32481160G>A	ENST00000548411.1	+	5	1952	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	BICD1_ENST00000281474.5_Missense_Mutation_p.E591K	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	591					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGCCAGCAAAGAACCAAGTCC	0.498000													11	76					0	0	0.008291	0	0
CNN1	1264	broad.mit.edu	37	19	11657493	11657493	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:11657493C>T	ENST00000592923.1	+	4	616	c.39C>T	c.(37-39)ttC>ttT	p.F13F	CNN1_ENST00000544952.1_Silent_p.F43F|CNN1_ENST00000535659.2_Silent_p.F13F|CNN1_ENST00000252456.2_Silent_p.F63F			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	63					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TTCTCAGATTCATCAATAAGC	0.562000													14	52					0	0	0.003163	0	0
KIAA0556	23247	broad.mit.edu	37	16	27772844	27772844	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:27772844A>G	ENST00000261588.4	+	19	3761	c.3742A>G	c.(3742-3744)Atc>Gtc	p.I1248V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1248										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCTGCACCAGATCTCTGCTTC	0.577000													17	35					0	0	0.006122	0	0
WBP2NL	164684	broad.mit.edu	37	22	42418274	42418274	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:42418274G>C	ENST00000328823.9	+	5	459	c.428G>C	c.(427-429)aGa>aCa	p.R143T	WBP2NL_ENST00000543212.1_Missense_Mutation_p.R69T	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	143					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TTTCCACTTAGAACCTTAAAT	0.383000													20	84					0	0	0.012319	0	0
GIF	2694	broad.mit.edu	37	11	59604819	59604819	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:59604819G>C	ENST00000541311.1	-	6	858	c.624C>G	c.(622-624)ctC>ctG	p.L208L	GIF_ENST00000257248.2_Silent_p.L233L			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	233					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						GTGTTACAGAGAGAGCCTGGG	0.413000													5	16					0	0	0.000602	0	0
OR52N5	390075	broad.mit.edu	37	11	5799669	5799669	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:5799669G>A	ENST00000317093.2	-	1	228	c.196C>T	c.(196-198)Ccg>Tcg	p.P66S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAATACATCGGATGATGTAAG	0.453000													13	83					0	0	0.001855	0	0
OR2A12	346525	broad.mit.edu	37	7	143792833	143792833	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:143792833C>T	ENST00000408949.2	+	1	693	c.633C>T	c.(631-633)tgC>tgT	p.C211C		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GGCCGCTCTGCCTGGTGCTGG	0.562000													60	120					0	0	0.014410	0	0
TPTE	7179	broad.mit.edu	37	21	10906930	10906930	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr21:10906930C>A	ENST00000298232.7	-	23	1944	c.1577G>T	c.(1576-1578)aGt>aTt	p.S526I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S544I|TPTE_ENST00000342420.5_Missense_Mutation_p.S506I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	544	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TACAACATCACTGGAAGTCAT	0.388000													19	47					1.87028e-06	2.02027e-06	0.012319	1	0
ME3	10873	broad.mit.edu	37	11	86270746	86270746	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:86270746C>G	ENST00000543262.1	-	3	629	c.303G>C	c.(301-303)caG>caC	p.Q101H	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.Q101H|ME3_ENST00000323418.6_Missense_Mutation_p.Q39H|ME3_ENST00000359636.2_Missense_Mutation_p.Q101H	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	101					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	CCAGGTCACTCTGCTGCCGCT	0.532000													32	145					0	0	0.003271	0	0
BMP2K	55589	broad.mit.edu	37	4	79831813	79831813	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:79831813C>G	ENST00000335016.5	+	16	2278	c.2112C>G	c.(2110-2112)ggC>ggG	p.G704G	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	704						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAGAAAATGGCACTGCAAACC	0.388000													29	21					0	0	0.005443	0	0
COL6A2	1292	broad.mit.edu	37	21	47545457	47545457	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr21:47545457C>T	ENST00000300527.4	+	25	1999	c.1895C>T	c.(1894-1896)aCa>aTa	p.T632I	COL6A2_ENST00000310645.5_Missense_Mutation_p.T632I|COL6A2_ENST00000357838.4_Missense_Mutation_p.T632I|COL6A2_ENST00000409416.1_Missense_Mutation_p.T632I|COL6A2_ENST00000397763.1_Missense_Mutation_p.T632I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	632	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCAACTTCACACTGGAGAAG	0.617000													29	34					0	0	0.007291	0	0
NINL	22981	broad.mit.edu	37	20	25477351	25477351	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:25477351C>G	ENST00000278886.6	-	10	1331	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	NINL_ENST00000422516.1_Missense_Mutation_p.E420Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	420					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCGTCCATCTCTTTCACAAAC	0.602000													11	62					0	0	0.008291	0	0
TP53BP1	7158	broad.mit.edu	37	15	43701917	43701917	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:43701917G>C	ENST00000263801.3	-	25	5565	c.5313C>G	c.(5311-5313)ttC>ttG	p.F1771L	TP53BP1_ENST00000382039.3_Missense_Mutation_p.F1726L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.F1776L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.F1774L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1771	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACTGCTTGTTGAAAGGAGGAA	0.363000								Other conserved DNA damage response genes					4	11					0	0	0.009096	0	0
FBXO5	26271	broad.mit.edu	37	6	153296150	153296150	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:153296150C>G	ENST00000367241.3	-	2	952	c.572G>C	c.(571-573)aGa>aCa	p.R191T	FBXO5_ENST00000229758.3_Missense_Mutation_p.R237T	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	237	Interaction with EVI5.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GCCCATTTTTCTGCCAATTAT	0.383000													7	102					0	0	0.003080	0	0
MYH13	8735	broad.mit.edu	37	17	10265786	10265786	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:10265786A>T	ENST00000418404.3	-	3	402	c.239T>A	c.(238-240)aTg>aAg	p.M80K	MYH13_ENST00000252172.4_Missense_Mutation_p.M80K|MYH13_ENST00000570743.1_Missense_Mutation_p.M80K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	80	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGGAGGGTTCATGGGGAAGAC	0.488000													23	87					0	0	0.005443	0	0
FAM83C	128876	broad.mit.edu	37	20	33875148	33875148	+	Silent	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:33875148G>T	ENST00000374408.3	-	4	1530	c.1434C>A	c.(1432-1434)ccC>ccA	p.P478P		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	478										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACCCCGCAGGGGGCTGGGCT	0.642000													17	47					1.99824e-07	2.1763e-07	0.004990	1	0
OTOF	9381	broad.mit.edu	37	2	26750699	26750699	+	Splice_Site	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:26750699C>A	ENST00000272371.2	-	3	354		c.e3+1		OTOF_ENST00000403946.3_Splice_Site	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACACTTACTTGTTGCTGA	0.562000													8	69					0.000442599	0.000461478	0.006214	1	0
DNAH9	1770	broad.mit.edu	37	17	11757715	11757715	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:11757715G>T	ENST00000262442.3	+	50	9971	c.9903G>T	c.(9901-9903)gaG>gaT	p.E3301D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3301D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3301	Stalk (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)		CTGCCCAGGAGAAGCTGGCTG	0.547000													14	18					6.72482e-11	7.62609e-11	0.003163	1	0
BARHL1	56751	broad.mit.edu	37	9	135464746	135464746	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr9:135464746G>A	ENST00000263610.2	+	3	1434	c.821G>A	c.(820-822)gGc>gAc	p.G274D	BARHL1_ENST00000542090.1_Missense_Mutation_p.G274D	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	274						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CTGGACCCCGGCGCGGCGCTC	0.672000													23	55					0	0	0.014323	0	0
HPSE2	60495	broad.mit.edu	37	10	100481571	100481571	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:100481571G>A	ENST00000370552.3	-	5	858	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	HPSE2_ENST00000370546.1_Missense_Mutation_p.R267W|HPSE2_ENST00000370549.1_Missense_Mutation_p.R209W|HPSE2_ENST00000404542.1_Missense_Mutation_p.R155W	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	267					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	p.R267W(4)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TGCATGGTCCGATAGTTATTT	0.473000													24	67					0	0	0.004656	0	0
ITGBL1	9358	broad.mit.edu	37	13	102250648	102250648	+	Splice_Site	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr13:102250648G>T	ENST00000376180.3	+	7	1233	c.1015_splice	c.e7+1	p.R338_splice	ITGBL1_ENST00000376162.3_Splice_Site_p.R245_splice|ITGBL1_ENST00000545560.2_Splice_Site_p.R197_splice	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	338	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCTGGGAGGGGTAAGTGAG	0.498000													14	15					4.3838e-07	4.75873e-07	0.001855	1	0
BNIP3P1	319138	broad.mit.edu	37	14	28733949	28733949	+	RNA	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:28733949T>A	ENST00000550043.1	+	0	354																											GAGTTCTCACTGTGACAGCCC	0.478000													40	29					0	0	0.011902	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123906	12123906	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:12123906C>G	ENST00000379388.2	+	4	4210	c.3878C>G	c.(3877-3879)tCa>tGa	p.S1293*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1293					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAACATTCCTCAACAGAATCG	0.458000													9	90					0	0	0.006214	0	0
MUC6	4588	broad.mit.edu	37	11	1025347	1025347	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:1025347C>T	ENST00000421673.2	-	23	2870	c.2820G>A	c.(2818-2820)gcG>gcA	p.A940A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	940	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTTCTGTCCGCCAGCACCA	0.682000													12	43					0	0	0.010729	0	0
RAD54L	8438	broad.mit.edu	37	1	46736385	46736385	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:46736385A>T	ENST00000371975.4	+	10	1771	c.1097A>T	c.(1096-1098)gAc>gTc	p.D366V	RAD54L_ENST00000442598.1_Missense_Mutation_p.D366V	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	366					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGGGTCGAGACGCTGCTGCT	0.473000								Direct reversal of damage;Homologous recombination					9	43					0	0	0.004482	0	0
POLR1B	84172	broad.mit.edu	37	2	113331367	113331367	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:113331367G>T	ENST00000263331.5	+	14	3080	c.2500G>T	c.(2500-2502)Ggg>Tgg	p.G834W	POLR1B_ENST00000409894.3_Missense_Mutation_p.G651W|POLR1B_ENST00000541869.1_Missense_Mutation_p.G872W|POLR1B_ENST00000537335.1_Missense_Mutation_p.G623W|POLR1B_ENST00000417433.2_Missense_Mutation_p.G778W	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	834					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.G834R(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCTCAACACCGGGGAAAGTTT	0.438000													40	93					1.62957e-23	2.02165e-23	0.008740	1	0
CPQ	10404	broad.mit.edu	37	8	98041644	98041644	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:98041644G>A	ENST00000220763.5	+	6	1185	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	325					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										TGCGTCCAAAGAGGACTCTGC	0.428000													4	11					0	0	0.009096	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203212	140203212	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:140203212C>T	ENST00000529859.1	+	1	1852	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618C|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618C	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAGTGCGCGCATCCCGTT	0.652000													31	54					0	0	0.003271	0	0
DECR1	1666	broad.mit.edu	37	8	91013744	91013744	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:91013744C>G	ENST00000220764.2	+	1	112	c.24C>G	c.(22-24)ttC>ttG	p.F8L	DECR1_ENST00000522161.1_5'UTR|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	8					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCAGGGTTTTCTTTACTCTGG	0.667000											OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	31					0	0	0.004672	0	0
TCEANC	170082	broad.mit.edu	37	X	13681425	13681425	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:13681425G>A	ENST00000380600.1	+	2	885	c.798G>A	c.(796-798)ctG>ctA	p.L266L	TCEANC_ENST00000545566.1_Silent_p.L266L|TCEANC_ENST00000314720.4_Silent_p.L296L|TCEANC_ENST00000544987.1_Silent_p.L266L|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	266	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						ATAAGGAACTGAAGCAGTTGA	0.428000													4	10					0	0	0.009096	0	0
SPPL2B	56928	broad.mit.edu	37	19	2337594	2337594	+	RNA	SNP	C	C	G	rs35767987		TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:2337594C>G	ENST00000452401.2	+	0	419				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	p.R113R(2)					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)		GCGGAGCACGCGGGCTGCTCA	0.692000													7	15					0	0	0.001984	0	0
CCDC6	8030	broad.mit.edu	37	10	61666021	61666021	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:61666021G>A	ENST00000263102.6	-	1	393	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	54						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCTCCAGGCGGAACGGCGAGA	0.667000			T	RET	NSCLC								45	62					0	0	0.014410	0	0
WDR96	80217	broad.mit.edu	37	10	105947204	105947204	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:105947204G>C	ENST00000357060.3	-	14	1849	c.1734C>G	c.(1732-1734)atC>atG	p.I578M	WDR96_ENST00000428666.1_Missense_Mutation_p.I579M|WDR96_ENST00000278064.2_Missense_Mutation_p.I509M	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	578										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACTTATGAATGATTTCATCTT	0.373000													11	48					0	0	0.013537	0	0
PRKAG3	53632	broad.mit.edu	37	2	219688556	219688556	+	Missense_Mutation	SNP	C	C	A	rs144562493	by1000genomes	TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:219688556C>A	ENST00000439262.2	-	13	1419	c.1324G>T	c.(1324-1326)Gtg>Ttg	p.V442L	PRKAG3_ENST00000545803.1_Missense_Mutation_p.V283L|PRKAG3_ENST00000529249.1_Missense_Mutation_p.V467L	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	467	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGAGACCACGCCCAAGAGA	0.612000													29	47					7.26314e-15	8.56013e-15	0.007291	1	0
KLHL20	27252	broad.mit.edu	37	1	173703134	173703134	+	Silent	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:173703134A>T	ENST00000209884.4	+	3	442	c.306A>T	c.(304-306)gcA>gcT	p.A102A	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	102	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GAGAATTGGCAGAGAGCCGTC	0.473000													8	77					0	0	0.008291	0	0
URB2	9816	broad.mit.edu	37	1	229773396	229773396	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:229773396C>G	ENST00000258243.2	+	4	3172	c.3036C>G	c.(3034-3036)ctC>ctG	p.L1012L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1012						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCAGATGCTCATCCAAATGA	0.448000													11	60					0	0	0.010729	0	0
ATP2B4	493	broad.mit.edu	37	1	203682343	203682343	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:203682343G>A	ENST00000357681.5	+	14	3385	c.2262G>A	c.(2260-2262)gcG>gcA	p.A754A	ATP2B4_ENST00000341360.2_Silent_p.A754A|ATP2B4_ENST00000367218.3_Silent_p.A754A|ATP2B4_ENST00000391954.2_Silent_p.A754A|ATP2B4_ENST00000367219.3_Silent_p.A742A	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	754					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGTCCTGGCGCGATCTTCTC	0.542000													20	158					0	0	0.010504	0	0
DPY19L1	23333	broad.mit.edu	37	7	34971311	34971311	+	Silent	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:34971311A>G	ENST00000310974.4	-	22	2046	c.1902T>C	c.(1900-1902)gaT>gaC	p.D634D		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	634						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GATCTTCTACATCCCAAATTT	0.398000													3	36					0	0	0.004672	0	0
FOXA1	3169	broad.mit.edu	37	14	38060627	38060627	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:38060627G>A	ENST00000250448.2	-	2	1423	c.1362C>T	c.(1360-1362)gcC>gcT	p.A454A	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.A421A	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	454					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGGCTCCAGGGCTGAGGGCT	0.617000													14	128					0	0	0.003163	0	0
SPECC1	92521	broad.mit.edu	37	17	20108588	20108588	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:20108588C>T	ENST00000395530.2	+	2	1191	c.983C>T	c.(982-984)aCa>aTa	p.T328I	SPECC1_ENST00000395525.3_Missense_Mutation_p.T328I|SPECC1_ENST00000261503.5_Missense_Mutation_p.T409I|SPECC1_ENST00000395522.2_Missense_Mutation_p.T328I|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.T409I|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.T409I|SPECC1_ENST00000472876.1_Intron	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	409	Ser-rich.					nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CAGGAATTGACAGCTGAAAAT	0.413000													14	54					0	0	0.002450	0	0
MED1	5469	broad.mit.edu	37	17	37563895	37563895	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:37563895T>C	ENST00000300651.6	-	17	4802	c.4579A>G	c.(4579-4581)Agc>Ggc	p.S1527G	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1527	Lys-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGCTTGATGCTATGAGATTTT	0.428000										HNSCC(31;0.082)			30	70					0	0	0.010818	0	0
INPP5D	3635	broad.mit.edu	37	2	234104107	234104107	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:234104107C>T	ENST00000359570.5	+	26	2623	c.2623C>T	c.(2623-2625)Cac>Tac	p.H875Y	INPP5D_ENST00000455936.2_Missense_Mutation_p.H639Y|INPP5D_ENST00000450745.1_Missense_Mutation_p.H639Y			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	887					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCTCACCAGCCACGACCCCAT	0.567000													24	52					0	0	0.002780	0	0
ANKAR	150709	broad.mit.edu	37	2	190611111	190611111	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:190611111G>A	ENST00000520309.1	+	23	4151	c.4063G>A	c.(4063-4065)Gag>Aag	p.E1355K	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.E1284K|ANKAR_ENST00000313581.4_Missense_Mutation_p.E1355K|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1355						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTTAGGGAAGGAGCACCGAAG	0.333000													13	173					0	0	0.002450	0	0
SH3D21	79729	broad.mit.edu	37	1	36785389	36785389	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:36785389G>A	ENST00000453908.2	+	14	1153	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	SH3D21_ENST00000312808.4_Silent_p.K21K|SH3D21_ENST00000505871.1_Silent_p.K264K|SH3D21_ENST00000426732.2_Silent_p.K259K	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	259										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCAGCTCCAAGAAGATCCCGG	0.632000													7	32					0	0	0.001984	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863005	10863005	+	RNA	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr21:10863005G>C	ENST00000559480.1	+	0	301																		p.E101*(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						AGCCTACATGGAGCTAAGCAG	0.507000													22	410					0	0	0.014323	0	0
STRIP2	57464	broad.mit.edu	37	7	129091575	129091575	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:129091575C>G	ENST00000249344.2	+	4	436	c.396C>G	c.(394-396)ctC>ctG	p.L132L	STRIP2_ENST00000435494.2_Silent_p.L132L	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GGGCTGTTCTCTACCTGGCCC	0.567000													9	26					0	0	0.004482	0	0
NCKAP1	10787	broad.mit.edu	37	2	183791552	183791552	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:183791552G>A	ENST00000360982.2	-	31	4038	c.3280C>T	c.(3280-3282)Cta>Tta	p.L1094L	NCKAP1_ENST00000361354.3_Silent_p.L1088L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1088					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACCATATCTAGCAGTAAATAA	0.318000													20	37					0	0	0.010504	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727915	20727915	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:20727915C>T	ENST00000427401.4	-	4	1188	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	365					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GGGTTTCTCTCCACTATGAAT	0.393000													11	35					0	0	0.010729	0	0
CTXN3	613212	broad.mit.edu	37	5	126993409	126993409	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:126993409G>C	ENST00000379445.3	+	3	747	c.196G>C	c.(196-198)Gat>Cat	p.D66H	CTXN3_ENST00000395322.3_Missense_Mutation_p.D66H|CTC-548H10.2_ENST00000512352.1_RNA	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	66						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TACCTGGGCTGATGGACTTGA	0.488000													9	70					0	0	0.008291	0	0
GPX5	2880	broad.mit.edu	37	6	28500165	28500165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:28500165G>T	ENST00000412168.2	+	4	516	c.427G>T	c.(427-429)Gaa>Taa	p.E143*	GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	143					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGTGAATGGTGAAAAAGAACA	0.443000													52	57					4.45325e-31	5.60906e-31	0.014410	1	0
PDE4A	5141	broad.mit.edu	37	19	10570163	10570163	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:10570163A>G	ENST00000380702.2	+	10	1123	c.1123A>G	c.(1123-1125)Atg>Gtg	p.M375V	PDE4A_ENST00000440014.2_Missense_Mutation_p.M336V|PDE4A_ENST00000293683.5_Missense_Mutation_p.M371V|PDE4A_ENST00000352831.6_Missense_Mutation_p.M397V|PDE4A_ENST00000344979.3_Missense_Mutation_p.M158V|PDE4A_ENST00000592685.1_Missense_Mutation_p.M375V			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	397	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CATCATGTACATGATATTCCA	0.622000													6	20					0	0	0.001984	0	0
ICAM5	7087	broad.mit.edu	37	19	10406079	10406079	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:10406079G>A	ENST00000221980.4	+	10	2351	c.2288G>A	c.(2287-2289)gGa>gAa	p.G763E		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	763	Ig-like C2-type 9.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCCCAGGAGGAAACTTCACG	0.697000													4	15					0	0	0.009096	0	0
SEC22B	9554	broad.mit.edu	37	1	145109656	145109656	+	RNA	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:145109656G>T	ENST00000453618.1	+	0	645							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TGCCCACTGTGTCCCGACCCT	0.418000													32	773					2.75727e-19	3.32687e-19	0.004878	1	0
CELSR1	9620	broad.mit.edu	37	22	46787649	46787649	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:46787649G>C	ENST00000262738.3	-	15	6028	c.6029C>G	c.(6028-6030)tCc>tGc	p.S2010C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2010	EGF-like 8; calcium-binding.|Laminin EGF-like.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCGGCTGTGGGAGCCATGGGG	0.632000													4	20					0	0	0.009096	0	0
SYCE1	93426	broad.mit.edu	37	10	135369180	135369180	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:135369180C>T	ENST00000368517.3	-	11	781	c.643G>A	c.(643-645)Gag>Aag	p.E215K	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.E251K|SYCE1_ENST00000432597.2_Missense_Mutation_p.E215K	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	251					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGGAGCTCCTCAGCCTTCCTG	0.652000													8	48					0	0	0.003080	0	0
ZC4H2	55906	broad.mit.edu	37	X	64137684	64137684	+	Missense_Mutation	SNP	C	C	T	rs149235340	byFrequency	TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:64137684C>T	ENST00000447788.2	-	4	646	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	ZC4H2_ENST00000545618.1_Silent_p.P213P|ZC4H2_ENST00000337990.2_Silent_p.P195P|ZC4H2_ENST00000374839.3_Silent_p.P218P|ZC4H2_ENST00000488608.1_5'UTR	NM_001178033.2	NP_001171504.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	83							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GCTTCCGTTTCGGCTTTTTGG	0.488000													4	20					0	0	0.009096	0	0
MXRA8	54587	broad.mit.edu	37	1	1290159	1290159	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:1290159G>C	ENST00000309212.6	-	5	882	c.852C>G	c.(850-852)cgC>cgG	p.R284R	MXRA8_ENST00000445648.2_Silent_p.R284R|MXRA8_ENST00000342753.4_Silent_p.R183R	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	284	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAAGACGCGGCGTTCGTGCA	0.711000													4	24					0	0	0.009096	0	0
SSX9	280660	broad.mit.edu	37	X	48164277	48164277	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:48164277G>A	ENST00000376909.1	-	2	68	c.6C>T	c.(4-6)aaC>aaT	p.N2N	SSX9_ENST00000407081.2_Silent_p.N2N																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						CATCGTCTCCGTTCATGGCAC	0.552000													51	180					0	0	0.014410	0	0
SIN3A	25942	broad.mit.edu	37	15	75687143	75687143	+	Missense_Mutation	SNP	C	C	T	rs151089140		TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:75687143C>T	ENST00000394947.3	-	14	2469	c.2155G>A	c.(2155-2157)Gaa>Aaa	p.E719K	SIN3A_ENST00000394949.4_Missense_Mutation_p.E719K|SIN3A_ENST00000360439.4_Missense_Mutation_p.E719K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	719	Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCATTTTGTTCTCGCCATACT	0.438000													19	123					0	0	0.010504	0	0
SELP	6403	broad.mit.edu	37	1	169581480	169581480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:169581480C>T	ENST00000263686.6	-	6	973	c.936G>A	c.(934-936)tgG>tgA	p.W312*	SELP_ENST00000367788.2_Intron|SELP_ENST00000367786.2_Nonsense_Mutation_p.W312*|SELP_ENST00000367793.2_Intron|SELP_ENST00000367792.2_Nonsense_Mutation_p.W312*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W312*|SELP_ENST00000367791.2_Nonsense_Mutation_p.W312*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W312*	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	312	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CTGGGGCTGTCCATACCCCCG	0.488000													13	108					0	0	0.004007	0	0
SPATC1	375686	broad.mit.edu	37	8	145095676	145095676	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:145095676C>G	ENST00000377470.3	+	3	1076	c.974C>G	c.(973-975)tCc>tGc	p.S325C	SPATC1_ENST00000447830.2_Missense_Mutation_p.S325C	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	325										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			gtccccacctcccccaccacc	0.662000													5	6					0	0	0.000602	0	0
NAV3	89795	broad.mit.edu	37	12	78452786	78452786	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:78452786G>C	ENST00000397909.2	+	12	2700	c.2527G>C	c.(2527-2529)Gat>Cat	p.D843H	NAV3_ENST00000266692.7_Missense_Mutation_p.D843H|NAV3_ENST00000228327.6_Missense_Mutation_p.D843H|NAV3_ENST00000536525.2_Missense_Mutation_p.D843H|RP11-136F16.1_ENST00000549103.1_RNA			Q8IVL0	NAV3_HUMAN	neuron navigator 3	843						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTACATGACAGATGGAGGACT	0.388000										HNSCC(70;0.22)			15	34					0	0	0.004990	0	0
OR2T12	127064	broad.mit.edu	37	1	248458293	248458293	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:248458293G>A	ENST00000317996.1	-	1	587	c.588C>T	c.(586-588)gcC>gcT	p.A196A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGATGTACATGGCGTTTTCGA	0.537000													14	95					0	0	0.001855	0	0
CABYR	26256	broad.mit.edu	37	18	21735667	21735667	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr18:21735667G>A	ENST00000399496.3	+	4	367	c.202G>A	c.(202-204)Gag>Aag	p.E68K	CABYR_ENST00000399481.2_5'UTR|CABYR_ENST00000399499.1_Missense_Mutation_p.E68K|CABYR_ENST00000415309.2_Missense_Mutation_p.E68K|CABYR_ENST00000327201.6_5'UTR|CABYR_ENST00000581397.1_Missense_Mutation_p.E68K	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	68					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TTTTTCAGTAGAGAAATGGTC	0.333000													12	35					0	0	0.013537	0	0
LYRM2	57226	broad.mit.edu	37	6	90348409	90348409	+	Silent	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:90348409C>A	ENST00000523377.1	-	1	63	c.27G>T	c.(25-27)gcG>gcT	p.A9A	LYRM2_ENST00000520441.1_Silent_p.A9A|LYRM2_ENST00000520318.1_Silent_p.A9A	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN	LYR motif containing 2	9										kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		ACGTTAGCGTCGCTGGGGGTA	0.637000													29	139					4.31634e-10	4.85312e-10	0.012213	1	0
MAPK13	5603	broad.mit.edu	37	6	36099123	36099123	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:36099123C>T	ENST00000211287.4	+	2	457	c.195C>T	c.(193-195)ttC>ttT	p.F65F	MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373759.1_5'UTR|MAPK13_ENST00000373761.6_Silent_p.F65F|MAPK13_ENST00000373766.5_Silent_p.F65F	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	65	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CCGAGATCTTCGCCAAGCGCG	0.662000													14	92					0	0	0.004990	0	0
BMS1	9790	broad.mit.edu	37	10	43326498	43326498	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:43326498G>C	ENST00000374518.4	+	23	3866	c.3803G>C	c.(3802-3804)aGa>aCa	p.R1268T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1268					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAGGAAAGAAGAAACCAGAAG	0.537000													3	12					0	0	0.009096	0	0
TRIM9	114088	broad.mit.edu	37	14	51467560	51467560	+	Splice_Site	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:51467560T>C	ENST00000298355.3	-	6	2428		c.e6-2		TRIM9_ENST00000360392.4_Splice_Site|TRIM9_ENST00000338969.5_Intron	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9						proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GAGAGGAAGCTAAACAGAAAT	0.473000													7	56					0	0	0.004482	0	0
SLIT2	9353	broad.mit.edu	37	4	20530616	20530616	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:20530616G>A	ENST00000504154.1	+	16	1759	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	SLIT2_ENST00000503823.1_Missense_Mutation_p.D495N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D499N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D507N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	503	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGCTTTGCGGATCTGGCTTG	0.398000													20	93					0	0	0.003330	0	0
TIGD3	220359	broad.mit.edu	37	11	65124466	65124466	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:65124466T>A	ENST00000309880.5	+	2	1394	c.1187T>A	c.(1186-1188)gTg>gAg	p.V396E		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	396					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCCCGCTTTGTGGACCTGGAG	0.622000													18	71					0	0	0.007413	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880471	42880471	+	Silent	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:42880471A>G	ENST00000431473.3	+	5	1131	c.1002A>G	c.(1000-1002)ggA>ggG	p.G334G		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	334					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CAGCTCAGGGAGTTGCAGAGA	0.552000													13	41					0	0	0.001855	0	0
IRF8	3394	broad.mit.edu	37	16	85936695	85936695	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:85936695G>T	ENST00000268638.5	+	2	496	c.74G>T	c.(73-75)gGa>gTa	p.G25V	IRF8_ENST00000563180.1_Missense_Mutation_p.G25V	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	25					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ATGTATCCAGGACTGATTTGG	0.488000													34	66					4.65686e-17	5.54789e-17	0.003755	1	0
PLCB2	5330	broad.mit.edu	37	15	40589781	40589781	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:40589781C>G	ENST00000260402.3	-	13	1513	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	PLCB2_ENST00000557821.1_Missense_Mutation_p.E422Q|PLCB2_ENST00000456256.2_Missense_Mutation_p.E422Q	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	422	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CGGCAATACTCAGCCATCTTA	0.577000													10	26					0	0	0.006214	0	0
NAV3	89795	broad.mit.edu	37	12	78562540	78562540	+	Silent	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:78562540T>A	ENST00000397909.2	+	24	5048	c.4875T>A	c.(4873-4875)tcT>tcA	p.S1625S	NAV3_ENST00000266692.7_Silent_p.S1448S|NAV3_ENST00000228327.6_Silent_p.S1625S|NAV3_ENST00000536525.2_Silent_p.S1625S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1625						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACAGGAATCTGAACTTATAG	0.403000										HNSCC(70;0.22)			21	47					0	0	0.012319	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6428049	6428049	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:6428049T>C	ENST00000536531.1	+	12	1593	c.1414T>C	c.(1414-1416)Tcc>Ccc	p.S472P	PLEKHG6_ENST00000396988.3_Intron|PLEKHG6_ENST00000011684.7_Intron|PLEKHG6_ENST00000449001.2_Intron			Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	472	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCCCAGTACGTCCTTCCTTCA	0.582000													12	40					0	0	0.013537	0	0
HECTD1	25831	broad.mit.edu	37	14	31597041	31597041	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:31597041G>C	ENST00000399332.1	-	26	5419	c.4931C>G	c.(4930-4932)tCa>tGa	p.S1644*	HECTD1_ENST00000553700.1_Nonsense_Mutation_p.S1644*	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1644	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACTGGAAGTTGATGTGAGGCT	0.363000													34	146					0	0	0.006999	0	0
NR3C1	2908	broad.mit.edu	37	5	142779799	142779799	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:142779799C>T	ENST00000343796.2	-	2	1599	c.606G>A	c.(604-606)ggG>ggA	p.G202G	NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Silent_p.G202G|NR3C1_ENST00000394464.2_Silent_p.G202G|NR3C1_ENST00000504572.1_Silent_p.G202G|NR3C1_ENST00000394466.2_Silent_p.G202G|NR3C1_ENST00000503201.1_Silent_p.G202G|NR3C1_ENST00000424646.2_Silent_p.G202G|NR3C1_ENST00000231509.3_Silent_p.G202G	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	202	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TACCTGGGGACCCAGAAGAAA	0.463000													9	42					0	0	0.006214	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86351130	86351130	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:86351130C>T	ENST00000355238.6	-	2	234	c.28G>A	c.(28-30)Ggt>Agt	p.G10S	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G10S	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	10					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCTTCAGTACCATTTCCATTA	0.358000													12	47					0	0	0.003163	0	0
ACAD10	80724	broad.mit.edu	37	12	112153654	112153654	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:112153654G>A	ENST00000455480.2	+	8	1150	c.973G>A	c.(973-975)Ggg>Agg	p.G325R	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.G294R|ACAD10_ENST00000313698.4_Missense_Mutation_p.G294R	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	294							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GTTTGATCACGGGCAGTCAAA	0.473000													38	103					0	0	0.006999	0	0
COL12A1	1303	broad.mit.edu	37	6	75804895	75804895	+	Splice_Site	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:75804895C>A	ENST00000322507.8	-	60	8887	c.8577_splice	c.e60-1	p.G2860_splice	COL12A1_ENST00000345356.6_Splice_Site_p.G1696_splice|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000483888.2_Intron|COL12A1_ENST00000416123.2_Splice_Site_p.G2784_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2860	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCTGGGCTTCCCTACAACACA	0.473000													17	32					2.4624e-09	2.74988e-09	0.008871	1	0
SMARCA5	8467	broad.mit.edu	37	4	144467174	144467174	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:144467174G>C	ENST00000283131.3	+	19	2956	c.2494G>C	c.(2494-2496)Gag>Cag	p.E832Q		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	832					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGAAGAGTTAGAGGAAAAAGA	0.383000													16	45					0	0	0.004007	0	0
TRIM3	10612	broad.mit.edu	37	11	6472225	6472225	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:6472225G>C	ENST00000525074.1	-	9	2161	c.1767C>G	c.(1765-1767)atC>atG	p.I589M	TRIM3_ENST00000345851.3_Missense_Mutation_p.I589M|TRIM3_ENST00000359518.3_Missense_Mutation_p.I589M|TRIM3_ENST00000537602.1_Missense_Mutation_p.I511M|TRIM3_ENST00000536344.1_Missense_Mutation_p.I470M	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	589					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGACCACAATGATATGTCCAT	0.552000													4	54					0	0	0.000602	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111896952	111896952	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:111896952C>G	ENST00000368761.5	-	4	1573	c.1095G>C	c.(1093-1095)ctG>ctC	p.L365L	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Silent_p.L374L|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000359831.4_Silent_p.L365L|TRAF3IP2-AS1_ENST00000440395.1_RNA	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	374					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCTGTGGTCTCAGCTCTGCAG	0.547000													10	54					0	0	0.010729	0	0
AKAP1	8165	broad.mit.edu	37	17	55194219	55194219	+	Splice_Site	SNP	A	A	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:55194219A>C	ENST00000337714.3	+	8	2665		c.e8-1		AKAP1_ENST00000539273.1_Splice_Site|AKAP1_ENST00000571629.1_Splice_Site|AKAP1_ENST00000572557.1_Splice_Site	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1						blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TTGCCTTCCCAGGTCTGACTT	0.517000													20	124					0	0	0.010504	0	0
FAM47A	158724	broad.mit.edu	37	X	34148133	34148133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:34148133G>A	ENST00000346193.3	-	1	2314	c.2263C>T	c.(2263-2265)Caa>Taa	p.Q755*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	755										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AACAGCCTTTGAATGATGCCA	0.408000													25	104					0	0	0.008361	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505151	37505151	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:37505151G>T	ENST00000374660.1	+	38	3200	c.3101G>T	c.(3100-3102)tGt>tTt	p.C1034F	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.C915F|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.C915F			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1037						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTTCATTCTTGTGAAAGAGCA	0.333000													22	37					5.35356e-11	6.09198e-11	0.002780	1	0
MICAL2	9645	broad.mit.edu	37	11	12247773	12247773	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:12247773G>C	ENST00000256194.4	+	14	2032	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	MICAL2_ENST00000527546.1_Missense_Mutation_p.D582H|MICAL2_ENST00000342902.5_Missense_Mutation_p.D582H|MICAL2_ENST00000537344.1_Missense_Mutation_p.D582H|MICAL2_ENST00000379612.3_Missense_Mutation_p.D582H	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	582	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCTCGCATTTGATGTGGCCGA	0.507000													10	68					0	0	0.008291	0	0
C2	717	broad.mit.edu	37	6	31902163	31902163	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:31902163C>G	ENST00000418949.2	+	6	986	c.936C>G	c.(934-936)ctC>ctG	p.L312L	CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Intron					complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GAACCCCACTCACAGCCCACC	0.468000													6	59					0	0	0.001168	0	0
HSPG2	3339	broad.mit.edu	37	1	22205522	22205522	+	Silent	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:22205522C>A	ENST00000374695.3	-	18	2515	c.2436G>T	c.(2434-2436)cgG>cgT	p.R812R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	812	Laminin EGF-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AAGGGCAGGGCCGGCAGGAAG	0.617000													14	13					6.72482e-11	7.62609e-11	0.003163	1	0
ANK2	287	broad.mit.edu	37	4	114278095	114278095	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:114278095G>T	ENST00000357077.4	+	38	8374	c.8321G>T	c.(8320-8322)gGc>gTc	p.G2774V	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2741V|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2741					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTGTGATGGCCATGGATGT	0.488000													14	102					6.31663e-08	6.91372e-08	0.003163	1	0
AHSP	51327	broad.mit.edu	37	16	31539514	31539514	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:31539514C>G	ENST00000302312.4	+	2	157	c.54C>G	c.(52-54)ttC>ttG	p.F18L	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	18					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						TGAAGGAGTTCAGCGTTCTGC	0.498000													12	73					0	0	0.010729	0	0
CELSR2	1952	broad.mit.edu	37	1	109812675	109812675	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:109812675G>A	ENST00000271332.3	+	23	7289	c.7228G>A	c.(7228-7230)Ggc>Agc	p.G2410S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2410					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAACCAACACGGCATCCGACG	0.577000													18	64					0	0	0.004990	0	0
RHOT1	55288	broad.mit.edu	37	17	30526552	30526552	+	Silent	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:30526552A>G	ENST00000358365.3	+	13	1310	c.1083A>G	c.(1081-1083)ggA>ggG	p.G361G	RHOT1_ENST00000354266.3_Silent_p.G340G|RHOT1_ENST00000333942.6_Silent_p.G361G|RHOT1_ENST00000581094.1_Silent_p.G361G|RHOT1_ENST00000394692.2_Silent_p.G361G|RHOT1_ENST00000545287.2_Silent_p.G361G|RHOT1_ENST00000583994.1_Silent_p.G234G	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	361					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CCTACCAGGGATTCCTTTCCC	0.378000													25	70					0	0	0.007291	0	0
TDRD1	56165	broad.mit.edu	37	10	115970636	115970636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:115970636C>T	ENST00000251864.2	+	13	1723	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	TDRD1_ENST00000369282.1_Nonsense_Mutation_p.Q524*|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.Q185*|TDRD1_ENST00000369281.2_Nonsense_Mutation_p.Q524*|TDRD1_ENST00000369280.1_Nonsense_Mutation_p.Q524*	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	524					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGCTGAACTTCAGGCATCCCT	0.393000													12	55					0	0	0.001855	0	0
PRKAA1	5562	broad.mit.edu	37	5	40765169	40765169	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:40765169C>G	ENST00000397128.2	-	7	1001	c.993G>C	c.(991-993)ttG>ttC	p.L331F	PRKAA1_ENST00000354209.3_Missense_Mutation_p.L346F	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	331					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AGGCAACTGCCAAAGGATCCT	0.388000													16	122					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179464429	179464429	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:179464429G>C	ENST00000589042.1	-	289	56423	c.56199C>G	c.(56197-56199)ctC>ctG	p.L18733L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.L9793L|TTN_ENST00000342992.6_Silent_p.L16165L|TTN_ENST00000342175.6_Silent_p.L9860L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.L17092L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L9668L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17092	Fibronectin type-III 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L9860L(1)|p.L16163L(1)|p.L16165L(1)|p.L9793L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTGTCATAGAGAACAGGTT	0.438000													27	112					0	0	0.006320	0	0
SLC22A3	6581	broad.mit.edu	37	6	160819028	160819028	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:160819028C>G	ENST00000392145.1	+	2	474	c.447C>G	c.(445-447)gtC>gtG	p.V149V	SLC22A3_ENST00000275300.2_Silent_p.V149V			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	149						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TTGTCTGTGTCAATGCGTGGA	0.453000													22	139					0	0	0.003954	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202352615	202352615	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:202352615T>A	ENST00000439140.1	-	16	5227	c.5183A>T	c.(5182-5184)gAt>gTt	p.D1728V	ALS2CR11_ENST00000286195.3_Missense_Mutation_p.D531V|ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'UTR	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	531										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CTCAAATTTATCTGAACAATC	0.294000													10	75					0	0	0.006214	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528839	65528839	+	Splice_Site	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:65528839C>T	ENST00000310193.3	-	3	433		c.e3-1			NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1						bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATGTACTTTCCTAGAAAAAAA	0.264000													3	12					0	0	0.001168	0	0
SEMA3A	10371	broad.mit.edu	37	7	83640603	83640603	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:83640603C>A	ENST00000265362.3	-	8	1135	c.821G>T	c.(820-822)gGa>gTa	p.G274V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G274V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	274	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTGTGCCCTCCAAAGTCATT	0.378000													6	23					3.59834e-05	3.81204e-05	0.001168	1	0
ZNF610	162963	broad.mit.edu	37	19	52869486	52869486	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:52869486G>T	ENST00000601151.1	+	5	1178	c.726G>T	c.(724-726)gaG>gaT	p.E242D	ZNF610_ENST00000321287.8_Missense_Mutation_p.E285D|ZNF610_ENST00000327920.8_Missense_Mutation_p.E285D|ZNF610_ENST00000403906.3_Missense_Mutation_p.E285D	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATACTGGAGAGAAGCCTCACA	0.393000													11	35					2.80697e-09	3.12412e-09	0.010729	1	0
OTUD7A	161725	broad.mit.edu	37	15	31776389	31776389	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:31776389T>A	ENST00000382902.1	-	11	2002	c.1910A>T	c.(1909-1911)cAg>cTg	p.Q637L	OTUD7A_ENST00000307050.4_Missense_Mutation_p.Q630L			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	630						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCGCTCCCCCTGCATGGCGGC	0.682000													4	10					0	0	0.009096	0	0
SMPD4	55627	broad.mit.edu	37	2	130930378	130930378	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:130930378C>A	ENST00000409031.1	-	6	1701	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	SMPD4_ENST00000351288.6_Missense_Mutation_p.G185C|SMPD4_ENST00000431183.2_Missense_Mutation_p.G112C|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.G72C|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000426662.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	146					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AAGTTCAGACCAAGGCCCCCA	0.607000													27	30					6.36457e-07	6.89757e-07	0.003954	1	0
KIAA0947	23379	broad.mit.edu	37	5	5473764	5473764	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:5473764G>A	ENST00000296564.7	+	16	6538	c.6316G>A	c.(6316-6318)Ggt>Agt	p.G2106S		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2106								p.G2106R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGAAAAATTTGGTGAAGACCT	0.398000													7	40					0	0	0.001984	0	0
FNBP4	23360	broad.mit.edu	37	11	47746106	47746106	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:47746106C>T	ENST00000263773.5	-	13	2245	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	745										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCACTTCCCTCATCCTCCATC	0.567000													21	103					0	0	0.012319	0	0
DNAH1	25981	broad.mit.edu	37	3	52398911	52398911	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:52398911C>G	ENST00000420323.2	+	34	5655	c.5394C>G	c.(5392-5394)ctC>ctG	p.L1798L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1798					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGAGGACCTCAAGCTCTTCT	0.627000													13	51					0	0	0.013537	0	0
C2orf73	129852	broad.mit.edu	37	2	54587462	54587462	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:54587462G>C	ENST00000398634.2	+	5	669	c.627G>C	c.(625-627)gaG>gaC	p.E209D	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	209										breast(2)	2						AAAAAACAGAGAAAGGAAACT	0.448000													3	24					0	0	0.004672	0	0
GCAT	23464	broad.mit.edu	37	22	38211274	38211274	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:38211274G>T	ENST00000323205.6	+	5	859	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	GCAT_ENST00000248924.6_Missense_Mutation_p.G240W	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	240					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGCTTCCTGGGGCCCACAGG	0.617000													4	24					1.23904e-05	1.31898e-05	0.000602	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77913593	77913593	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:77913593G>T	ENST00000321110.1	-	2	620	c.325C>A	c.(325-327)Cca>Aca	p.P109T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	109	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGGGCTGCTGGGGCCTCCTGG	0.642000													11	12					2.80697e-09	3.12412e-09	0.010729	1	0
BMP5	653	broad.mit.edu	37	6	55638877	55638877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:55638877G>A	ENST00000370830.3	-	4	1695	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	BMP5_ENST00000446683.2_Nonsense_Mutation_p.Q333*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	333					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGGAGTCCTGATGAGAGCTG	0.468000													11	70					0	0	0.010729	0	0
AMY2A	279	broad.mit.edu	37	1	104160583	104160583	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:104160583C>A	ENST00000414303.2	+	2	240	c.176C>A	c.(175-177)cCa>cAa	p.P59Q		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	59					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	TAGGTCTCTCCACCAAATGAA	0.328000													28	104					1.7881e-09	2.00365e-09	0.008361	1	0
OR12D3	81797	broad.mit.edu	37	6	29342268	29342268	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:29342268G>C	ENST00000396806.3	-	1	800	c.797C>G	c.(796-798)tCc>tGc	p.S266C	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CTGAATCATGGAGGTGGCTGA	0.483000													8	69					0	0	0.004482	0	0
INTS2	57508	broad.mit.edu	37	17	59958421	59958421	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:59958421C>T	ENST00000444766.3	-	17	2300	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	INTS2_ENST00000251334.6_Missense_Mutation_p.R734Q	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	742					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CAGGAGCATTCGCCGTAGCAG	0.398000													15	87					0	0	0.003163	0	0
KCNH2	3757	broad.mit.edu	37	7	150648011	150648011	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:150648011C>G	ENST00000392968.2	-	6	2975	c.1855G>C	c.(1855-1857)Gcg>Ccg	p.A619P	KCNH2_ENST00000330883.4_Missense_Mutation_p.A375P|KCNH2_ENST00000262186.5_Missense_Mutation_p.A715P|KCNH2_ENST00000430723.3_Missense_Mutation_p.A715P			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	715					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGCCTCACCGCGTTCATGTCG	0.632000													16	27					0	0	0.004007	0	0
DNAH10	196385	broad.mit.edu	37	12	124330325	124330325	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:124330325C>T	ENST00000409039.3	+	30	5210	c.5185C>T	c.(5185-5187)Ccg>Tcg	p.P1729S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1729	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATCACCATGCCGCTAAGCAA	0.463000													23	42					0	0	0.002780	0	0
GMPPB	29925	broad.mit.edu	37	3	49759191	49759191	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:49759191G>A	ENST00000480687.1	-	10	1193	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	GMPPB_ENST00000308388.6_Silent_p.I359I|GMPPB_ENST00000308375.6_Silent_p.I386I|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	359					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCCTCACATGATGATACGAG	0.557000													5	31					0	0	0.001984	0	0
FBXO34	55030	broad.mit.edu	37	14	55817174	55817174	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:55817174G>A	ENST00000313833.4	+	2	311	c.66G>A	c.(64-66)acG>acA	p.T22T	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Silent_p.T22T	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	22										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GCAGGGAAACGCAGAGAACTC	0.448000													6	64					0	0	0.001168	0	0
AGRN	375790	broad.mit.edu	37	1	978663	978663	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:978663G>C	ENST00000379370.2	+	8	1479	c.1429G>C	c.(1429-1431)Gcg>Ccg	p.A477P		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	477					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCATTTGGGGCGACGTGTGC	0.662000													4	14					0	0	0.009096	0	0
NES	10763	broad.mit.edu	37	1	156640601	156640601	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:156640601C>T	ENST00000368223.3	-	4	3511	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1127	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCAAACTCTCCTCTTCCAGG	0.642000													13	119					0	0	0.002450	0	0
TMEM86A	144110	broad.mit.edu	37	11	18723357	18723357	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:18723357C>T	ENST00000280734.2	+	3	620	c.524C>T	c.(523-525)aCa>aTa	p.T175I		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	175						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TGGCGCTGGACAGAGCTGGCA	0.602000													13	24					0	0	0.001855	0	0
GPR125	166647	broad.mit.edu	37	4	22389690	22389690	+	Missense_Mutation	SNP	C	C	A	rs141222776		TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:22389690C>A	ENST00000334304.5	-	19	3873	c.3604G>T	c.(3604-3606)Gtg>Ttg	p.V1202L	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1202					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCGTTCTGCACGCTTCCTTCC	0.527000													27	68					2.85442e-18	3.43154e-18	0.010818	1	0
POLDIP3	84271	broad.mit.edu	37	22	42991591	42991591	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr22:42991591C>T	ENST00000252115.5	-	6	947	c.843G>A	c.(841-843)aaG>aaA	p.K281K	POLDIP3_ENST00000348657.2_Silent_p.K252K|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Silent_p.K125K|POLDIP3_ENST00000491021.1_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	281	RRM.				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TCACAGTCATCTTGGTGCCTT	0.468000													6	48					0	0	0.001168	0	0
BTRC	8945	broad.mit.edu	37	10	103292112	103292112	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:103292112G>C	ENST00000370187.3	+	8	1019	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	BTRC_ENST00000408038.2_Missense_Mutation_p.E265Q|BTRC_ENST00000393441.4_Missense_Mutation_p.E260Q	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	301					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)		CTGCCGAAGTGAAACAAGCAA	0.393000													15	98					0	0	0.003163	0	0
IFI44	10561	broad.mit.edu	37	1	79115896	79115896	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:79115896C>T	ENST00000370747.4	+	2	101	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	6					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGTGACAACTCGTTTGACATG	0.348000													17	51					0	0	0.004990	0	0
POC1A	25886	broad.mit.edu	37	3	52172224	52172224	+	Silent	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:52172224C>G	ENST00000394970.2	-	7	1091	c.774G>C	c.(772-774)ctG>ctC	p.L258L	POC1A_ENST00000296484.2_Silent_p.L258L|POC1A_ENST00000474012.1_Silent_p.L220L	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	258						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GGCCCTCCATCAGGTCCAGGA	0.602000													8	37					0	0	0.004482	0	0
TRBV27	28560	broad.mit.edu	37	7	142423437	142423437	+	RNA	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:142423437C>G	ENST00000506718.1	+	0	445				TRBV27_ENST00000390399.3_RNA																							GATACCTCATCACAGTGACTG	0.498000													4	50					0	0	0.009096	0	0
ACTN1	87	broad.mit.edu	37	14	69345241	69345241	+	Splice_Site	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:69345241C>T	ENST00000394419.4	-	20	2544		c.e20-1		ACTN1_ENST00000538545.2_Splice_Site|ACTN1_ENST00000438964.2_Splice_Site|ACTN1_ENST00000376839.3_Splice_Site|ACTN1_ENST00000193403.6_Intron	NM_001130004.1	NP_001123476.1	P12814	ACTN1_HUMAN	actinin, alpha 1						focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGTCTTCTTCTGTGGGGGGC	0.597000													5	28					0	0	0.000602	0	0
OR14A16	284532	broad.mit.edu	37	1	247979009	247979009	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:247979009G>T	ENST00000357627.1	-	1	22	c.23C>A	c.(22-24)aCt>aAt	p.T8N		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GATAAATTCAGTCACGATTGT	0.338000													4	42					0.00024832	0.000259732	0.009096	1	0
TRIM50	135892	broad.mit.edu	37	7	72738498	72738498	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:72738498G>C	ENST00000333149.2	-	2	488	c.288C>G	c.(286-288)ctC>ctG	p.L96L	TRIM50_ENST00000453152.1_Silent_p.L96L|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	96						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGAAAAGGCTGAGCGGGTTCC	0.667000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	71					0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9058315	9058315	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:9058315C>T	ENST00000397910.4	-	3	29334	c.29131G>A	c.(29131-29133)Gaa>Aaa	p.E9711K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9713	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGACTTTCAGGACCCCTG	0.488000													7	26					0	0	0.003080	0	0
MEST	4232	broad.mit.edu	37	7	130140669	130140669	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:130140669G>C	ENST00000223215.4	+	9	908	c.687G>C	c.(685-687)gaG>gaC	p.E229D	MEST_ENST00000416162.2_Intron|MEST_ENST00000341441.4_Missense_Mutation_p.E220D|MEST_ENST00000437945.1_Missense_Mutation_p.E229D|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000393187.1_Missense_Mutation_p.E220D|MEST_ENST00000378576.4_Intron	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	229					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GGCCCTCTGAGAGTGAGCTGT	0.498000													3	38					0	0	0.009096	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857373	68857373	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:68857373T>A	ENST00000361320.4	+	3	2143	c.1565T>A	c.(1564-1566)tTt>tAt	p.F522Y	LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	522						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GTGTCAACCTTTCTGGCATAC	0.398000													5	68					0	0	0.000602	0	0
PALLD	23022	broad.mit.edu	37	4	169433199	169433199	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:169433199A>G	ENST00000261509.6	+	2	755	c.544A>G	c.(544-546)Ata>Gta	p.I182V	PALLD_ENST00000505667.1_Missense_Mutation_p.I182V|PALLD_ENST00000333488.4_Missense_Mutation_p.I59V|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	182					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCTAACATCCATATTTAAAGC	0.502000									Pancreatic Cancer, Familial Clustering of				24	79					0	0	0.005443	0	0
GP1BA	2811	broad.mit.edu	37	17	4835987	4835987	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:4835987G>C	ENST00000329125.5	+	2	163	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	30										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CAGCCACCTAGAAGTGAACTG	0.577000													22	92					0	0	0.003330	0	0
CFHR4	10877	broad.mit.edu	37	1	196881996	196881996	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:196881996C>G	ENST00000367416.2	+	7	1258	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	CFHR4_ENST00000251424.4_Missense_Mutation_p.S128C|CFHR4_ENST00000367418.1_Missense_Mutation_p.S128C|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GATGGAAATTCTTCAGGTTCA	0.303000													21	141					0	0	0.002780	0	0
SZT2	23334	broad.mit.edu	37	1	43906216	43906216	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:43906216C>G	ENST00000562955.1	+	51	7132	c.7132C>G	c.(7132-7134)Cca>Gca	p.P2378A	SZT2_ENST00000372442.1_Missense_Mutation_p.P1536A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2435						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCCTGTGACTCCACCCAGCAA	0.592000													21	66					0	0	0.010504	0	0
HAL	3034	broad.mit.edu	37	12	96389479	96389479	+	Silent	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:96389479G>C	ENST00000261208.3	-	2	578	c.210C>G	c.(208-210)ctC>ctG	p.L70L	HAL_ENST00000538703.1_Silent_p.L70L|HAL_ENST00000541929.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	70					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGGCCACCTCGAGCCGGTCCT	0.622000													22	27					0	0	0.003330	0	0
TYR	7299	broad.mit.edu	37	11	88911360	88911360	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:88911360G>T	ENST00000263321.5	+	1	741	c.239G>T	c.(238-240)tGg>tTg	p.W80L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	80			W -> R (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CGGGAGTCGTGGCCTTCCGTC	0.517000													36	11					6.84511e-11	7.74918e-11	0.003271	1	0
LGR4	55366	broad.mit.edu	37	11	27393196	27393196	+	Silent	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:27393196A>G	ENST00000379214.4	-	17	1988	c.1545T>C	c.(1543-1545)caT>caC	p.H515H	LGR4_ENST00000389858.4_Silent_p.H491H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	515						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TTATTTGACTATGTTCTTCAT	0.333000													11	72					0	0	0.010729	0	0
SYT14	255928	broad.mit.edu	37	1	210267810	210267810	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:210267810A>T	ENST00000537238.1	+	6	863	c.472A>T	c.(472-474)Aac>Tac	p.N158Y	SYT14_ENST00000534859.1_Missense_Mutation_p.N196Y|SYT14_ENST00000422431.1_Missense_Mutation_p.N241Y|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000472886.1_Missense_Mutation_p.N196Y|SYT14_ENST00000367015.1_Missense_Mutation_p.N158Y|SYT14_ENST00000367019.1_Missense_Mutation_p.N196Y|SYT14_ENST00000399639.2_Missense_Mutation_p.N196Y	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	196						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CCACTGCAGCAACAGTCCAAG	0.423000													15	67					0	0	0.004990	0	0
NFE2L1	4779	broad.mit.edu	37	17	46128846	46128846	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:46128846C>T	ENST00000362042.3	+	2	982	c.366C>T	c.(364-366)ctC>ctT	p.L122L	NFE2L1_ENST00000585291.1_Silent_p.L122L|NFE2L1_ENST00000357480.5_Silent_p.L122L|NFE2L1_ENST00000361665.3_Silent_p.L122L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	122					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTCAGGCCTCGCCCTCGAGA	0.592000													6	116					0	0	0.001168	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018245	1018245	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:1018245G>A	ENST00000398484.2	+	7	1445	c.865G>A	c.(865-867)Gag>Aag	p.E289K	FGFRL1_ENST00000504138.1_Missense_Mutation_p.E289K|FGFRL1_ENST00000510644.1_Missense_Mutation_p.E289K|FGFRL1_ENST00000264748.6_Missense_Mutation_p.E289K			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	289	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTACGGCGCCGAGGGCCGCCA	0.657000													10	39					0	0	0.008291	0	0
DAW1	164781	broad.mit.edu	37	2	228756020	228756020	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:228756020C>T	ENST00000373666.2	+	4	944	c.308C>T	c.(307-309)tCg>tTg	p.S103L	DAW1_ENST00000309931.2_Missense_Mutation_p.S103L|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.S88L					dynein assembly factor with WDR repeat domains 1																		CTTAACAAATCGGGCTCATGG	0.299000													17	60					0	0	0.010504	0	0
OTC	5009	broad.mit.edu	37	X	38262962	38262962	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:38262962T>A	ENST00000039007.4	+	6	784	c.632T>A	c.(631-633)tTc>tAc	p.F211Y	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	211					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GCAGCGAAATTCGGAATGCAC	0.473000													16	55					0	0	0.003163	0	0
PPM1B	5495	broad.mit.edu	37	2	44428516	44428516	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:44428516G>C	ENST00000378551.2	+	2	590	c.178G>C	c.(178-180)Gat>Cat	p.D60H	PPM1B_ENST00000282412.4_Missense_Mutation_p.D60H|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.D60H|PPM1B_ENST00000409895.4_Missense_Mutation_p.D60H	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	60					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCAGTTTATGATGGTCATGC	0.448000													37	144					0	0	0.004878	0	0
AFF2	2334	broad.mit.edu	37	X	148037480	148037480	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:148037480G>C	ENST00000370460.2	+	11	2384	c.1905G>C	c.(1903-1905)gaG>gaC	p.E635D	AFF2_ENST00000342251.3_Missense_Mutation_p.E602D|AFF2_ENST00000286437.5_Missense_Mutation_p.E276D|AFF2_ENST00000370457.5_Missense_Mutation_p.E602D	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	635					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAAGTTGAGAAGAACACCA	0.423000													34	96					0	0	0.012213	0	0
FER1L6	654463	broad.mit.edu	37	8	125052198	125052198	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr8:125052198C>G	ENST00000522917.1	+	20	2746	c.2540C>G	c.(2539-2541)tCa>tGa	p.S847*	FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.S847*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	847	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AATGGACTTTCAGACCCTTTT	0.522000													6	86					0	0	0.001168	0	0
ARHGAP5	394	broad.mit.edu	37	14	32624150	32624150	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:32624150T>C	ENST00000345122.3	+	7	4820	c.4505T>C	c.(4504-4506)aTa>aCa	p.I1502T	ARHGAP5_ENST00000396582.2_Missense_Mutation_p.I237T|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I1501T|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I1502T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I1501T|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.I241T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1502					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTTGGTATTATATGAGTAGGA	0.433000													61	52					0	0	0.014410	0	0
AKAP13	11214	broad.mit.edu	37	15	86122855	86122855	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr15:86122855C>G	ENST00000394518.2	+	7	1651	c.1556C>G	c.(1555-1557)tCt>tGt	p.S519C	AKAP13_ENST00000361243.2_Missense_Mutation_p.S519C|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	519					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCTGGAGCCTCTGACGTGCAC	0.483000													9	54					0	0	0.004482	0	0
WNK1	65125	broad.mit.edu	37	12	989170	989170	+	Silent	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:989170A>G	ENST00000315939.6	+	11	3448	c.2805A>G	c.(2803-2805)ccA>ccG	p.P935P	WNK1_ENST00000530271.2_Silent_p.P1433P|WNK1_ENST00000340908.4_Silent_p.P528P|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	935					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTGAGGTTCCACTTTCCTCTG	0.478000													13	47					0	0	0.002450	0	0
RYR1	6261	broad.mit.edu	37	19	39001185	39001185	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:39001185G>C	ENST00000355481.4	+	59	9111	c.8980G>C	c.(8980-8982)Gag>Cag	p.E2994Q	RYR1_ENST00000359596.3_Missense_Mutation_p.E2994Q|RYR1_ENST00000360985.3_Missense_Mutation_p.E2994Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2994					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACATGAACAGGAGATTAAATT	0.567000													21	73					0	0	0.010504	0	0
AIPL1	23746	broad.mit.edu	37	17	6329120	6329120	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:6329120C>G	ENST00000381129.3	-	6	895	c.815G>C	c.(814-816)cGg>cCg	p.R272P	AIPL1_ENST00000574506.1_Missense_Mutation_p.R260P|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000570466.1_Missense_Mutation_p.R250P|AIPL1_ENST00000576776.1_Missense_Mutation_p.R248P|AIPL1_ENST00000576307.1_Missense_Mutation_p.R212P|AIPL1_ENST00000250087.5_Missense_Mutation_p.R209P	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	272					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TGCGTGAGCCCGGGCACGCAC	0.667000													4	19					0	0	0.000602	0	0
SIM1	6492	broad.mit.edu	37	6	100841691	100841691	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:100841691C>T	ENST00000369208.3	-	11	2024	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	SIM1_ENST00000262901.4_Silent_p.T414T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	414	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGGAGAGGCCGTGTCGGTCA	0.577000													18	36					0	0	0.006122	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369855	20369855	+	RNA	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:20369855C>G	ENST00000593655.1	-	0	199																											CTCACTTGATCAATGTTGAAG	0.398000													7	19					0	0	0.001984	0	0
MAGEA4	4103	broad.mit.edu	37	X	151093032	151093032	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:151093032G>A	ENST00000360243.2	+	3	1163	c.896G>A	c.(895-897)cGc>cAc	p.R299H	MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299H|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299H|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299H|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299H|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299H|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R299H	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	299	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGAGTTCGCATTGCCTAC	0.572000													43	103					0	0	0.009718	0	0
OTOGL	283310	broad.mit.edu	37	12	80658968	80658968	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:80658968C>T	ENST00000458043.2	+	19	2181	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	OTOGL_ENST00000547103.1_Silent_p.F725F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCATTGATTTCAGAACTCAGA	0.453000													10	25					0	0	0.006214	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576567	158576567	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:158576567C>T	ENST00000361284.1	+	1	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTAACTGCTTCCTTCTGGCTG	0.557000													28	215					0	0	0.007291	0	0
CPE	1363	broad.mit.edu	37	4	166405735	166405735	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:166405735G>T	ENST00000402744.4	+	5	1232	c.952G>T	c.(952-954)Gct>Tct	p.A318S		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	318					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAACGGTGGTGCTTGGTACAG	0.453000													49	135					1.19451e-25	1.4847e-25	0.014410	1	0
SLC22A4	6583	broad.mit.edu	37	5	131630476	131630476	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:131630476C>G	ENST00000200652.3	+	1	341	c.167C>G	c.(166-168)gCg>gGg	p.A56G	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	56					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CCGGACGCCGCGAACCTGAGC	0.682000													13	43					0	0	0.001855	0	0
MAP3K5	4217	broad.mit.edu	37	6	136977581	136977581	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:136977581A>G	ENST00000359015.4	-	10	1904	c.1544T>C	c.(1543-1545)gTa>gCa	p.V515A	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	515					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AATTGTCTCTACAATAGACTT	0.383000													35	98					0	0	0.013726	0	0
DGKZ	8525	broad.mit.edu	37	11	46397681	46397681	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:46397681G>C	ENST00000454345.1	+	23	2766	c.2641G>C	c.(2641-2643)Gag>Cag	p.E881Q	DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Missense_Mutation_p.E471Q|DGKZ_ENST00000527911.1_Missense_Mutation_p.E693Q|DGKZ_ENST00000343674.6_Missense_Mutation_p.E709Q|DGKZ_ENST00000532868.2_Missense_Mutation_p.E697Q|DGKZ_ENST00000318201.8_Missense_Mutation_p.E670Q|DGKZ_ENST00000421244.2_Missense_Mutation_p.E693Q|DGKZ_ENST00000395574.3_Missense_Mutation_p.E659Q|DGKZ_ENST00000456247.2_Missense_Mutation_p.E692Q	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	881					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCCCACATTGAGAGACTCCA	0.657000													11	61					0	0	0.010729	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764134	140764134	+	Silent	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:140764134T>C	ENST00000518325.1	+	1	1668	c.1668T>C	c.(1666-1668)aaT>aaC	p.N556N	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAATGACAACCCGC	0.602000													34	111					0	0	0.004878	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392695	22392695	+	RNA	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:22392695C>G	ENST00000390440.2	+	0	293																											TATCAGGGGTCTTATGACGAG	0.453000													23	77					0	0	0.014323	0	0
VCAN	1462	broad.mit.edu	37	5	82786003	82786003	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:82786003C>A	ENST00000265077.3	+	3	722	c.157C>A	c.(157-159)Cca>Aca	p.P53T	VCAN_ENST00000512590.2_Missense_Mutation_p.P5T|VCAN_ENST00000343200.5_Missense_Mutation_p.P53T|VCAN_ENST00000342785.4_Missense_Mutation_p.P53T|VCAN_ENST00000513984.1_Missense_Mutation_p.P53T|VCAN_ENST00000502527.2_Missense_Mutation_p.P53T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	53	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCCTACTTTGCCACCCAGTTA	0.453000													39	65					4.92203e-23	6.0834e-23	0.006230	1	0
KCNH1	3756	broad.mit.edu	37	1	211192440	211192440	+	Silent	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:211192440G>A	ENST00000367007.4	-	6	886	c.717C>T	c.(715-717)gtC>gtT	p.V239V	KCNH1_ENST00000271751.4_Silent_p.V239V	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	239					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTTTGAAGGAGACATTATAAG	0.418000													11	63					0	0	0.010729	0	0
ZNF846	162993	broad.mit.edu	37	19	9872820	9872820	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:9872820C>A	ENST00000397902.2	-	4	580	c.167G>T	c.(166-168)aGt>aTt	p.S56I	ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_Missense_Mutation_p.S56I	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AGACATGAGACTACGTTTGAA	0.458000													22	78					6.44725e-10	7.23671e-10	0.014323	1	0
GOLGA3	2802	broad.mit.edu	37	12	133365817	133365817	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:133365817C>T	ENST00000204726.3	-	13	3165	c.2607G>A	c.(2605-2607)ctG>ctA	p.L869L	GOLGA3_ENST00000450791.2_Silent_p.L869L|GOLGA3_ENST00000537452.1_Silent_p.L869L|GOLGA3_ENST00000545875.1_Silent_p.L869L|GOLGA3_ENST00000456883.2_Silent_p.L869L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	869					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGGTGGCTTTCAGCTCACTGA	0.657000													11	42					0	0	0.010729	0	0
PRLR	5618	broad.mit.edu	37	5	35065601	35065601	+	Missense_Mutation	SNP	C	C	T	rs139147779		TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:35065601C>T	ENST00000382002.5	-	10	1885	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.D386N|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.D386N|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	487					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTATCCTGGTCAGTCTCAGAA	0.493000													19	120					0	0	0.008871	0	0
RYR2	6262	broad.mit.edu	37	1	237711840	237711840	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:237711840G>T	ENST00000366574.2	+	26	3333	c.3016G>T	c.(3016-3018)Gtg>Ttg	p.V1006L	RYR2_ENST00000360064.6_Missense_Mutation_p.V1004L|RYR2_ENST00000542537.1_Missense_Mutation_p.V990L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1006	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCACATAATGTGTGGGCGCG	0.488000													12	30					5.50884e-06	5.90233e-06	0.013537	1	0
ENGASE	64772	broad.mit.edu	37	17	77082418	77082418	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:77082418C>G	ENST00000579016.1	+	14	2219	c.2219C>G	c.(2218-2220)tCa>tGa	p.S740*		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	740						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTGCTTTATTCAGCCCCTGCA	0.652000													7	59					0	0	0.001984	0	0
SLC47A1	55244	broad.mit.edu	37	17	19470431	19470431	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:19470431G>A	ENST00000270570.4	+	14	1285	c.1199G>A	c.(1198-1200)aGg>aAg	p.R400K	SLC47A1_ENST00000395585.1_Missense_Mutation_p.R400K|SLC47A1_ENST00000457293.1_Missense_Mutation_p.R400K|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Missense_Mutation_p.R205K|SLC47A1_ENST00000436810.2_Missense_Mutation_p.R377K	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	400						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GGTGTTCTGAGGGGGAGTGGA	0.527000													8	196					0	0	0.004482	0	0
ICAM5	7087	broad.mit.edu	37	19	10406060	10406060	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:10406060G>A	ENST00000221980.4	+	10	2332	c.2269G>A	c.(2269-2271)Gga>Aga	p.G757R		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	757	Ig-like C2-type 9.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CTCGCCCCCTGGAGGCGTGCG	0.687000													5	18					0	0	0.001168	0	0
SLC30A10	55532	broad.mit.edu	37	1	220101607	220101607	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:220101607T>C	ENST00000366926.3	-	1	337	c.176A>G	c.(175-177)tAc>tGc	p.Y59C	SLC30A10_ENST00000536992.1_Missense_Mutation_p.Y59C|SLC30A10_ENST00000536446.1_Intron	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	59					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CCGGGCGATGTAGCCGGCGCT	0.701000													3	6					0	0	0.004672	0	0
INPP5F	22876	broad.mit.edu	37	10	121541266	121541266	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:121541266C>G	ENST00000361976.2	+	3	464	c.298C>G	c.(298-300)Cag>Gag	p.Q100E	INPP5F_ENST00000369081.1_Missense_Mutation_p.Q4E|INPP5F_ENST00000369083.3_Missense_Mutation_p.Q100E	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	100							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AATGGAACCTCAGGATCTTGA	0.398000													14	40					0	0	0.002450	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55049204	55049204	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:55049204C>T	ENST00000335056.3	+	6	1007	c.969C>T	c.(967-969)ctC>ctT	p.L323L	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GAGTACTCCTCTGTCATTCAC	0.453000													24	81					0	0	0.005443	0	0
DCHS2	54798	broad.mit.edu	37	4	155312413	155312413	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:155312413C>G	ENST00000357232.3	-	1	36	c.37G>C	c.(37-39)Gac>Cac	p.D13H	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	13					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ttttctccgtcttcattctct	0.373000													6	35					0	0	0.001168	0	0
NIF3L1	60491	broad.mit.edu	37	2	201760030	201760030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:201760030C>T	ENST00000409020.1	+	4	937	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	NIF3L1_ENST00000359683.4_Nonsense_Mutation_p.Q188*|NIF3L1_ENST00000409357.1_Nonsense_Mutation_p.Q215*|NIF3L1_ENST00000416651.1_Nonsense_Mutation_p.Q215*|NIF3L1_ENST00000409588.1_Nonsense_Mutation_p.Q215*			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	215					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GAATTGTACTCAGAAGGCTTT	0.368000													51	118					0	0	0.014410	0	0
NOS3	4846	broad.mit.edu	37	7	150696133	150696133	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr7:150696133C>A	ENST00000297494.3	+	8	1273	c.916C>A	c.(916-918)Ccc>Acc	p.P306T	NOS3_ENST00000484524.1_Missense_Mutation_p.P306T|NOS3_ENST00000467517.1_Missense_Mutation_p.P306T|NOS3_ENST00000461406.1_Missense_Mutation_p.P100T	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	306	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CTTCCTTCTGCCCCCCGAGCT	0.642000													68	84					1.37693e-34	1.74765e-34	0.014410	1	0
SLC9C2	284525	broad.mit.edu	37	1	173526632	173526632	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:173526632C>A	ENST00000367714.3	-	10	1484	c.1062G>T	c.(1060-1062)ttG>ttT	p.L354F	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.L252F|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	354					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GGCTCACTAACAAAATAGTAA	0.308000													23	157					2.39556e-15	2.83855e-15	0.002780	1	0
ALDH7A1	501	broad.mit.edu	37	5	125896781	125896781	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:125896781T>C	ENST00000409134.3	-	10	1126	c.907A>G	c.(907-909)Att>Gtt	p.I303V	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.I303V|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.I330V	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	303					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TTACCAATAATGGCATTGTTT	0.363000													17	100					0	0	0.006122	0	0
CCDC170	80129	broad.mit.edu	37	6	151907150	151907150	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:151907150C>G	ENST00000367290.5	+	7	1308	c.1219C>G	c.(1219-1221)Cag>Gag	p.Q407E	CCDC170_ENST00000239374.7_Missense_Mutation_p.Q407E			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	407																	TCTTCAGGGTCAGCTGACACA	0.483000													10	40					0	0	0.001855	0	0
CD3EAP	10849	broad.mit.edu	37	19	45912504	45912504	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:45912504G>C	ENST00000309424.3	+	3	1766	c.1278G>C	c.(1276-1278)aaG>aaC	p.K426N	CD3EAP_ENST00000589804.1_Missense_Mutation_p.K428N|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	426	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		agaagaagaagaagaaagaga	0.577000													13	27					0	0	0.013537	0	0
DIO2	1734	broad.mit.edu	37	14	80669079	80669079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:80669079C>A	ENST00000557010.1	-	4	1160	c.775G>T	c.(775-777)Gag>Tag	p.E259*	DIO2_ENST00000555750.1_Nonsense_Mutation_p.E295*|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Nonsense_Mutation_p.E259*	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	259					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAATTCTTCTCCAGCCAATGC	0.398000													15	10					8.60227e-14	1.00309e-13	0.004007	1	0
PRKACB	5567	broad.mit.edu	37	1	84700929	84700929	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:84700929G>C	ENST00000370689.2	+	10	1261	c.997G>C	c.(997-999)Gaa>Caa	p.E333Q	PRKACB_ENST00000394838.2_Missense_Mutation_p.E340Q|PRKACB_ENST00000370682.3_Missense_Mutation_p.E337Q|PRKACB_ENST00000394839.2_Missense_Mutation_p.E303Q|PRKACB_ENST00000370685.3_Missense_Mutation_p.E380Q	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	333	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	p.E340K(1)|p.E333K(1)|p.E380K(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TGACTATGAAGAAGAAGATAT	0.368000													15	55					0	0	0.007413	0	0
SF3B3	23450	broad.mit.edu	37	16	70566441	70566441	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:70566441C>G	ENST00000302516.5	+	5	841	c.630C>G	c.(628-630)ttC>ttG	p.F210L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	210					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CACTTACTTTCTATGAGCTAG	0.413000													10	92					0	0	0.008291	0	0
CHD3	1107	broad.mit.edu	37	17	7794291	7794291	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:7794291C>G	ENST00000380358.4	+	4	596	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	CHD3_ENST00000358181.4_Missense_Mutation_p.L140V|CHD3_ENST00000330494.7_Missense_Mutation_p.L140V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	140					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AACTCTGCTTCTGACCTGGGG	0.562000													27	91					0	0	0.009535	0	0
RXRB	6257	broad.mit.edu	37	6	33164323	33164323	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr6:33164323C>G	ENST00000374680.3	-	5	1092	c.881G>C	c.(880-882)gGa>gCa	p.G294A	RXRB_ENST00000374685.4_Missense_Mutation_p.G294A|RXRB_ENST00000413614.2_Missense_Mutation_p.G198A|RXRB_ENST00000544186.1_Missense_Mutation_p.G104A	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	294	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CTCGGGGGCTCCCCCAGCCCC	0.632000													18	105					0	0	0.007413	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912946	170912946	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr4:170912946C>T	ENST00000361618.3	-	3	1120	c.813G>A	c.(811-813)gtG>gtA	p.V271V	MFAP3L_ENST00000393704.3_Silent_p.V168V|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	271						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAGTATGCCTCACAAAATTCT	0.592000													23	47					0	0	0.005443	0	0
OTOA	146183	broad.mit.edu	37	16	21709155	21709155	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:21709155C>T	ENST00000388958.3	+	9	800	c.799C>T	c.(799-801)Cac>Tac	p.H267Y	OTOA_ENST00000388956.4_Missense_Mutation_p.H188Y|OTOA_ENST00000286149.4_Missense_Mutation_p.H267Y	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	267					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ATACATGGTTCACCTATCGTT	0.343000													12	78					0	0	0.010729	0	0
NINL	22981	broad.mit.edu	37	20	25457142	25457142	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr20:25457142T>A	ENST00000278886.6	-	17	2858	c.2785A>T	c.(2785-2787)Agc>Tgc	p.S929C	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	929					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCCGCTGCGCTCGCGCCGAAA	0.672000													5	14					0	0	0.000602	0	0
USB1	79650	broad.mit.edu	37	16	58051280	58051280	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr16:58051280C>G	ENST00000219281.3	+	5	657	c.546C>G	c.(544-546)ttC>ttG	p.F182L	USB1_ENST00000539737.2_Missense_Mutation_p.F164L|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Missense_Mutation_p.F131L	NM_024598.3	NP_078874.2			U6 snRNA biogenesis 1																		ATGCCCAGTTCCTGGACCTGG	0.522000													5	66					0	0	0.000602	0	0
PRUNE	58497	broad.mit.edu	37	1	151006440	151006440	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:151006440C>T	ENST00000271620.3	+	8	1248	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	PRUNE_ENST00000368935.1_Silent_p.D79D|PRUNE_ENST00000368936.1_Silent_p.D182D|PRUNE_ENST00000368937.1_Silent_p.D129D|PRUNE_ENST00000368934.1_Silent_p.D129D|PRUNE_ENST00000271619.8_Silent_p.D152D	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	364						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATATTTTGACTCCATGAAGA	0.527000													11	157					0	0	0.008291	0	0
AHNAK	79026	broad.mit.edu	37	11	62299280	62299280	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:62299280C>A	ENST00000378024.4	-	5	2883	c.2609G>T	c.(2608-2610)gGc>gTc	p.G870V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	870					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCAGTCTGGGCCTTGAACCTC	0.478000													64	174					2.36135e-34	2.99135e-34	0.014410	1	0
RNF103	7844	broad.mit.edu	37	2	86849937	86849937	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr2:86849937T>C	ENST00000237455.4	-	1	1041	c.73A>G	c.(73-75)Att>Gtt	p.I25V	RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	25					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TACCACACAATGGCCTCAAAA	0.522000													10	34					0	0	0.006214	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102980339	102980339	+	Silent	SNP	C	C	T			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:102980339C>T	ENST00000375735.2	+	1	180	c.36C>T	c.(34-36)ttC>ttT	p.F12F	DYNC2H1_ENST00000398093.3_Silent_p.F12F|DYNC2H1_ENST00000334267.7_Silent_p.F12F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	12	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGAAGCTCTTCATCTTCACTA	0.517000													7	49					0	0	0.004482	0	0
TPRG1L	127262	broad.mit.edu	37	1	3544203	3544204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:3544203_3544204insC	ENST00000378344.2	+	4	681_682	c.610_611insC	c.(610-612)atcfs	p.I204fs	TPRG1L_ENST00000344579.5_Frame_Shift_Ins_p.I145fs	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	204						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		TGAGAAGACAGCATCTCTGTGT	0.545													23	97	---	---	---	---					
EYA3	2140	broad.mit.edu	37	1	28330898	28330898	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:28330898delG	ENST00000373871.3	-	11	1182	c.942delC	c.(940-942)atfs	p.I316fs	EYA3_ENST00000545175.1_Frame_Shift_Del_p.I263fs|EYA3_ENST00000540618.1_Frame_Shift_Del_p.I270fs|EYA3_ENST00000436342.2_Frame_Shift_Del_p.I190fs|EYA3_ENST00000373863.3_Frame_Shift_Del_p.I270fs|EYA3_ENST00000373864.1_Frame_Shift_Del_p.I159fs|EYA3_ENST00000471498.1_5'UTR			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	316					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GGAAGATGATGATGGTTTCAT	0.353													16	84	---	---	---	---					
JUN	3725	broad.mit.edu	37	1	59247894	59247894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:59247894delT	ENST00000371222.2	-	1	1891	c.849delA	c.(847-849)aafs	p.K283fs		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	283	Leucine-zipper.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	AGGTTTTCACTTTTTCCTCCA	0.547			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	75	---	---	---	---					
C1orf116	79098	broad.mit.edu	37	1	207198231	207198231	+	Splice_Site	DEL	C	C	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:207198231delC	ENST00000359470.5	-	3	533		c.e3+1		C1orf116_ENST00000461135.2_Splice_Site	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116							cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GTCTGCCTTACCCCGGGGAGT	0.602													35	105	---	---	---	---					
HIST3H3	8290	broad.mit.edu	37	1	228612837	228612837	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr1:228612837delG	ENST00000366696.1	-	1	189	c.190delC	c.(190-192)gcfs	p.R64fs		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	64					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				GGCAACTTGCGGATTAGCAGC	0.657													8	183	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	6	---	---	---	---					
VTRNA2-1	100126299	broad.mit.edu	37	5	135416240	135416241	+	RNA	INS	-	-	AG			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr5:135416240_135416241insAG	ENST00000602301.1	-	0	45_46					NR_030583.2																						GATGGACAGATAGAAAGTCCGG	0.485													8	62	---	---	---	---					
RGR	5995	broad.mit.edu	37	10	86017689	86017689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr10:86017689delG	ENST00000359452.4	+	6	721	c.683delG	c.(682-684)tgfs	p.W228fs	RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	224					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGCTCGGCTGGGGCCCCTAT	0.537													12	61	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108143265	108143265	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr11:108143265delA	ENST00000278616.4	+	21	3469	c.3084delA	c.(3082-3084)ctfs	p.L1028fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.L1028fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1028					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGGCATCTAACAAAGGAGA	0.313			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			59	33	---	---	---	---					
RAPGEF3	10411	broad.mit.edu	37	12	48151827	48151830	+	Frame_Shift_Del	DEL	CCCA	CCCA	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:48151827_48151830delCCCA	ENST00000395358.3	-	2	126_129	c.38_41delTGGG	c.(37-42)gcfs	p.VG13fs	RAPGEF3_ENST00000449771.2_Frame_Shift_Del_p.VG13fs|RAPGEF3_ENST00000549151.1_5'UTR|RAPGEF3_ENST00000548919.1_5'UTR|RAPGEF3_ENST00000549347.1_5'UTR|RAPGEF3_ENST00000405493.2_5'UTR|RAPGEF3_ENST00000171000.4_5'UTR|RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.VG13fs			A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	0					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CACAGCCAGGCCCACCTGCCAGCA	0.657													2	4	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	RNA	INS	-	-	T	rs141632958		TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401																											cattctTTTTCTTTTTTTTTTT	0.361													4	5	---	---	---	---					
MYH7	4625	broad.mit.edu	37	14	23889251	23889251	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:23889251delC	ENST00000355349.3	-	27	3691	c.3529delG	c.(3529-3531)acfs	p.D1177fs		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1177					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTCCAGGTCCCGCCGCATC	0.682													9	3	---	---	---	---					
SERPINA1	5265	broad.mit.edu	37	14	94849053	94849053	+	Frame_Shift_Del	DEL	G	G	-	rs72552402	byFrequency	TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr14:94849053delG	ENST00000448921.1	-	4	1094	c.522delC	c.(520-522)acfs	p.T174fs	SERPINA1_ENST00000449399.3_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000404814.4_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000402629.1_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000437397.1_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000355814.4_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000393088.4_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000440909.1_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000393087.4_Frame_Shift_Del_p.T174fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	174				T -> H (in Ref. 4; AAA51546).	acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TGGCCTCTTCGGTGTCCCCGA	0.473													89	46	---	---	---	---					
RP11-160E2.17	0	broad.mit.edu	37	17	18988444	18988444	+	RNA	DEL	A	A	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:18988444delA	ENST00000442355.2	+	0	272																											ccctgtctccaaaaaaaaaaa	0.423													2	4	---	---	---	---					
ULK2	9706	broad.mit.edu	37	17	19705093	19705107	+	In_Frame_Del	DEL	AAGGGGAAGGTGAGT	AAGGGGAAGGTGAGT	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr17:19705093_19705107delAAGGGGAAGGTGAGT	ENST00000395544.4	-	16	1923_1937	c.1424_1438delACTCACCTTCCCCTT	c.(1423-1440)ttg>t	p.YSPSPL475del	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_In_Frame_Del_p.YSPSPL475del	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	475					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TACTTACCCAAAGGGGAAGGTGAGTAAGGCCTAGA	0.479													41	103	---	---	---	---					
REXO1	57455	broad.mit.edu	37	19	1827408	1827409	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chr19:1827408_1827409insA	ENST00000170168.4	-	2	1473_1474	c.1379_1380insT	c.(1378-1380)cacfs	p.H460fs		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	460						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CCCCGCTTGTGGGGCTCGGCCG	0.723													4	4	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135432460	135432460	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7539-01A-11D-2063-08	TCGA-78-7539-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda8bdf1-626a-417c-8c57-998b4a79872e	7385c065-1d06-4525-b66b-cdcecedcb6b9	g.chrX:135432460delG	ENST00000394143.1	+	6	6886	c.6595delG	c.(6595-6597)ggfs	p.G2199fs	GPR112_ENST00000394141.1_Frame_Shift_Del_p.G1994fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.G2199fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.G2136fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.G1994fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2199					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATATCCACTGGGGTGACATA	0.428													60	58	---	---	---	---					
