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
PLEC	5339	broad.mit.edu	37	8	144994473	144994473	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:144994473C>T	ENST00000322810.4	-	32	10096	c.9927G>A	c.(9925-9927)tcG>tcA	p.S3309S	PLEC_ENST00000354958.2_Silent_p.S3150S|PLEC_ENST00000356346.3_Silent_p.S3158S|PLEC_ENST00000357649.2_Silent_p.S3176S|PLEC_ENST00000345136.3_Silent_p.S3172S|PLEC_ENST00000436759.2_Silent_p.S3199S|PLEC_ENST00000354589.3_Silent_p.S3172S|PLEC_ENST00000527096.1_Silent_p.S3195S|PLEC_ENST00000398774.2_Silent_p.S3140S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3309	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCTTGGTGCCGACAGGGCCC	0.726000													7	27					0	0	1	0	0
PSMD12	5718	broad.mit.edu	37	17	65344755	65344755	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:65344755C>T	ENST00000356126.3	-	5	528	c.421G>A	c.(421-423)Gag>Aag	p.E141K	PSMD12_ENST00000357146.4_Missense_Mutation_p.E121K	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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 apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					CGCGCACGCTCAATTTCAACA	0.363000													10	63					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41025959	41025959	+	Silent	SNP	C	C	G	rs74764137	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:41025959C>G	ENST00000352632.3	+	16	3641	c.3555C>G	c.(3553-3555)ctC>ctG	p.L1185L	SPTBN4_ENST00000344104.3_Silent_p.L1185L|SPTBN4_ENST00000338932.3_Silent_p.L1185L|SPTBN4_ENST00000595535.1_Silent_p.L1185L|SPTBN4_ENST00000598249.1_Silent_p.L1185L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1185					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATAAACTGCTCGGCTTGTGGG	0.687000													9	43					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67271185	67271185	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:67271185G>A	ENST00000258201.4	-	9	1197	c.950C>T	c.(949-951)gCg>gTg	p.A317V	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	317	GBD/FH3.				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)		GTCAGTGCCCGCAGTGCCCAG	0.652000													4	98					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98235320	98235320	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:98235320G>C	ENST00000284049.3	-	7	1098	c.949C>G	c.(949-951)Cag>Gag	p.Q317E		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	317	Chromo 1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTAAATACTGAATCTCTCCT	0.398000													33	133					0	0	1	0	0
IL17B	27190	broad.mit.edu	37	5	148754117	148754117	+	Missense_Mutation	SNP	G	G	A	rs140917979	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:148754117G>A	ENST00000261796.3	-	3	408	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	120					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCACCGTGCCTCCGGC	0.642000													23	38					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577000			T	ETV4	prostate								7	416					0	0	1	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265581	22265581	+	RNA	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr14:22265581C>T	ENST00000390430.2	+	0	123																											AGTGTTTCCACAGCTCAGCCA	0.507000													3	24					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110862242	110862242	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:110862242T>G	ENST00000265171.5	+	2	713	c.268T>G	c.(268-270)Tgg>Ggg	p.W90G	EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.W90G|EGF_ENST00000509793.1_Missense_Mutation_p.W90G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	90					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAGAATCTATTGGGTGGATTT	0.378000													26	46					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17586805	17586805	+	Missense_Mutation	SNP	G	G	A	rs138404135		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:17586805G>A	ENST00000319363.6	+	11	1139	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	336					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGTGGGCTCCGTCATCCTGCT	0.607000													42	24					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15287140	15287140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:15287140C>T	ENST00000253693.2	+	17	2225	c.1972C>T	c.(1972-1974)Caa>Taa	p.Q658*		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	658	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGTGGTTTCTCAATATGAAAA	0.368000													72	98					0	0	1	0	0
IGHV3-35	28432	broad.mit.edu	37	14	106845433	106845433	+	RNA	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr14:106845433C>A	ENST00000390617.2	-	0	255																											TTCACAGAGTCTGCATAGTGC	0.522000													50	377					3.50607e-19	3.99736e-19	1	1	0
ALLC	55821	broad.mit.edu	37	2	3727534	3727534	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:3727534C>G	ENST00000252505.3	+	5	410	c.248C>G	c.(247-249)aCg>aGg	p.T83R		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	102							allantoicase activity	p.T83M(2)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCTTACTTCACGGGAGATTAC	0.532000										HNSCC(21;0.051)			38	96					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880851	153880851	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:153880851G>C	ENST00000247306.4	-	2	387	c.324C>G	c.(322-324)atC>atG	p.I108M	CTAG2_ENST00000369585.3_Missense_Mutation_p.I108M	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	108						centrosome		p.I108I(3)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGGGACAGGATCCTGCGGA	0.612000													31	78					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28636117	28636117	+	Silent	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr13:28636117T>A	ENST00000380982.4	-	3	336	c.255A>T	c.(253-255)gtA>gtT	p.V85V	FLT3_ENST00000241453.7_Silent_p.V85V|FLT3_ENST00000537084.1_Silent_p.V85V			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	85					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAAGCAGATACATCCACTT	0.552000			"""Mis, O"""		"""AML, ALL"""								65	10					0	0	1	0	0
HOOK3	84376	broad.mit.edu	37	8	42828466	42828466	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:42828466C>T	ENST00000307602.4	+	12	1357	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	386					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TCCGAAGAATCAAAGAAAGCA	0.294000			T	RET	papillary thyroid								200	68					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr14:106110177G>C	ENST00000390545.2	-	0	440																											CGGGGTCTTCGTGGCTCACGT	0.602000													5	272					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750																											ACAGCTTGACACTTGCCATTG	0.373000													4	59					0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56536340	56536340	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:56536340C>T	ENST00000245157.5	-	9	1389	c.969G>A	c.(967-969)gaG>gaA	p.E323E	BBS2_ENST00000568104.1_Silent_p.E323E|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	323					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGCCCCTCATCTCAGCCGTGC	0.498000									Bardet-Biedl syndrome				29	73					0	0	1	0	0
AP2M1	1173	broad.mit.edu	37	3	183896750	183896750	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:183896750G>A	ENST00000382456.3	+	3	494	c.180G>A	c.(178-180)cgG>cgA	p.R60R	AP2M1_ENST00000411763.2_Silent_p.R85R|AP2M1_ENST00000439647.1_Silent_p.R60R|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000292807.5_Silent_p.R60R	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	60					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTTAAGCGGTCCAACATTT	0.542000													65	108					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73803466	73803466	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:73803466G>C	ENST00000334126.7	-	19	3738	c.3512C>G	c.(3511-3513)tCa>tGa	p.S1171*	C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S1171*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1171	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATTACCTGATGACTGGTTCCT	0.408000													25	351					0	0	1	0	0
FTO	79068	broad.mit.edu	37	16	53922747	53922747	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:53922747G>C	ENST00000471389.1	+	7	1345	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	FTO_ENST00000460382.1_5'UTR|FTO_ENST00000431610.2_5'UTR|FTO_ENST00000394647.3_Missense_Mutation_p.E79Q	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	375					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TCCACAGGTCGAGTTTGAGTG	0.458000													52	148					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55240688	55240688	+	Silent	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:55240688G>C	ENST00000275493.2	+	17	2109	c.1932G>C	c.(1930-1932)ccG>ccC	p.P644P	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.P591P|EGFR_ENST00000455089.1_Silent_p.P599P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	644					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTAAGATCCCGTCCATCGCCA	0.607000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			29	770					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23401887	23401887	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:23401887G>A	ENST00000216036.4	-	7	996	c.800C>T	c.(799-801)gCg>gTg	p.A267V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	267							binding	p.A267V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCCAGGGCCGCATACTTCCC	0.632000													4	131					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43292587	43292587	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:43292587A>G	ENST00000374518.4	+	10	1958	c.1895A>G	c.(1894-1896)cAg>cGg	p.Q632R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	632					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						CTGGGGCCACAGAACTTCATT	0.388000													27	36					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8172074	8172074	+	Silent	SNP	C	C	T	rs150119860		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:8172074C>T	ENST00000314666.6	+	27	3739	c.3606C>T	c.(3604-3606)taC>taT	p.Y1202Y	PFAS_ENST00000545834.1_Silent_p.Y778Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1202	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGGCGCTACGAGTCTCGCT	0.701000													39	76					0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3899375	3899375	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr20:3899375C>T	ENST00000497424.1	+	6	1032	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	PANK2_ENST00000316562.4_Missense_Mutation_p.R532W|PANK2_ENST00000336066.3_3'UTR	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	532	Poly-Glu.				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GATCGCCATGCGGCTTTTGGC	0.388000													5	363					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62582206	62582206	+	Silent	SNP	G	G	A	rs149849389		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:62582206G>A	ENST00000262435.9	-	6	670	c.483C>T	c.(481-483)gaC>gaT	p.D161D	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	161	WW 1.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TAGCTTACCCGTCTGGTAAAT	0.333000													24	129					0	0	1	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455427	62455427	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:62455427C>T	ENST00000317449.4	-	2	1031	c.554G>A	c.(553-555)cGc>cAc	p.R185H		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	185						integral to membrane				cervix(1)|kidney(1)	2						CACCGCAAGGCGGCTGCAAGG	0.736000													10	11					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152018844	152018844	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:152018844C>T	ENST00000370274.3	+	3	338	c.144C>T	c.(142-144)ttC>ttT	p.F48F	NSDHL_ENST00000440023.1_Silent_p.F48F	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	48					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCTCTGGATTCCTGGGGCAGC	0.527000													87	214					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8387166	8387166	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr18:8387166A>G	ENST00000332175.8	+	29	5139	c.4102A>G	c.(4102-4104)Att>Gtt	p.I1368V	PTPRM_ENST00000580170.1_Missense_Mutation_p.I1381V|PTPRM_ENST00000444013.1_Missense_Mutation_p.I1155V|PTPRM_ENST00000400053.4_Missense_Mutation_p.I1306V|PTPRM_ENST00000400060.4_Missense_Mutation_p.I1382V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1368	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTTGAAGCTCATTCGCCAGGT	0.542000													54	36					0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63637739	63637739	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:63637739C>G	ENST00000178638.3	-	4	806	c.366G>C	c.(364-366)tgG>tgC	p.W122C	CA12_ENST00000344366.3_Missense_Mutation_p.W122C|CA12_ENST00000422263.2_Missense_Mutation_p.W62C	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	122					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TCGGGTTCCCCCAGTGCAGGT	0.652000													3	31					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17087129	17087129	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:17087129C>A	ENST00000377833.4	-	25	3614	c.3549G>T	c.(3547-3549)atG>atT	p.M1183I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1183	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTAATAGGGCATCGGGTAGT	0.488000													23	59					3.08376e-08	3.36581e-08	1	1	0
PIH1D1	55011	broad.mit.edu	37	19	49952900	49952900	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:49952900T>A	ENST00000262265.5	-	3	404	c.169A>T	c.(169-171)Aag>Tag	p.K57*	PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.K57*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	57					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)		GAGTTGGTCTTTATGCAGAAA	0.527000													6	53					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153592635	153592635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:153592635G>A	ENST00000422373.1	-	14	2376	c.2128C>T	c.(2128-2130)Caa>Taa	p.Q710*	FLNA_ENST00000360319.4_Nonsense_Mutation_p.Q710*|FLNA_ENST00000369850.3_Nonsense_Mutation_p.Q710*|FLNA_ENST00000344736.4_Nonsense_Mutation_p.Q710*	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	710					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTGGACTTGGACCCGAAGT	0.642000													66	206					0	0	1	0	0
PLA2G1B	5319	broad.mit.edu	37	12	120759996	120759996	+	Nonstop_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:120759996T>G	ENST00000308366.4	-	4	482	c.447A>C	c.(445-447)tgA>tgC	p.*149C	PLA2G1B_ENST00000423423.3_3'UTR|PLA2G1B_ENST00000549767.1_Nonstop_Mutation_p.*120C	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	0					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGGTGATATTCAACTCTGAC	0.423000													82	228					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104115399	104115399	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:104115399T>G	ENST00000265148.3	-	8	769	c.680A>C	c.(679-681)aAg>aCg	p.K227T	CENPE_ENST00000380026.3_Missense_Mutation_p.K227T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	227	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATGGGATACCTTAACAGATCC	0.343000													4	18					0	0	1	0	0
IGLV2-14	28815	broad.mit.edu	37	22	23101569	23101569	+	RNA	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:23101569C>T	ENST00000390312.2	+	0	264																											GGTCAGTAATCGGCCCTCAGG	0.532000													5	448					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr20:62324513C>T	ENST00000318100.4	+	30	3696	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	957					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597000													5	225					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415870	5415870	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr18:5415870C>A	ENST00000341928.2	-	13	2354	c.2014G>T	c.(2014-2016)Gcc>Tcc	p.A672S	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A672S|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	672	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCAAGGAGGCCGCCTTGGGC	0.562000													21	85					4.4004e-07	4.77377e-07	1	1	0
MEGF6	1953	broad.mit.edu	37	1	3425651	3425651	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:3425651T>C	ENST00000356575.4	-	12	1742	c.1516A>G	c.(1516-1518)Aca>Gca	p.T506A	MEGF6_ENST00000294599.4_Missense_Mutation_p.T401A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	506						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-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;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AACTTCTCTGTGAGCGTGTGT	0.672000													10	11					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44491028	44491028	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:44491028C>G	ENST00000425708.2	-	6	1249	c.908G>C	c.(907-909)gGg>gCg	p.G303A	ZNF445_ENST00000396077.2_Missense_Mutation_p.G303A			P59923	ZN445_HUMAN	zinc finger protein 445	303	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AACTGGATTCCCCTTAGGCTG	0.522000													17	23					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998209	29998209	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:29998209G>C	ENST00000308893.4	+	16	3659	c.2616G>C	c.(2614-2616)ttG>ttC	p.L872F	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.L759F|TAOK2_ENST00000416441.2_Missense_Mutation_p.L699F	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	872	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CATGGAGCTTGTGGGGGAAGG	0.597000													19	37					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152552687	152552687	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:152552687T>C	ENST00000367255.5	-	114	21479	c.20878A>G	c.(20878-20880)Att>Gtt	p.I6960V	SYNE1_ENST00000265368.4_Missense_Mutation_p.I6960V|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1484V|SYNE1_ENST00000341594.5_Missense_Mutation_p.I6572V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I6889V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I6889V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6960					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)		TTACAGTTAATGTCTATCTTA	0.353000										HNSCC(10;0.0054)			12	41					0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60269505	60269505	+	Missense_Mutation	SNP	G	G	A	rs111546873		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:60269505G>A	ENST00000016913.4	+	4	521	c.464G>A	c.(463-465)cGt>cAt	p.R155H	MS4A12_ENST00000537076.1_Missense_Mutation_p.R109H	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	155						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GAGCTTTCCCGTTGTCTGGTA	0.393000													55	70					0	0	1	0	0
GSPT1	2935	broad.mit.edu	37	16	11969699	11969699	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:11969699G>A	ENST00000434724.2	-	14	1979	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000563468.1_Missense_Mutation_p.R456C|GSPT1_ENST00000439887.2_Missense_Mutation_p.R593C|GSPT1_ENST00000420576.2_Missense_Mutation_p.R456C	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	456					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GTCCTTAAGCGAGCAATGCAT	0.423000													19	43					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20833083	20833083	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:20833083C>A	ENST00000359062.3	+	16	3344	c.3304C>A	c.(3304-3306)Caa>Aaa	p.Q1102K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1102					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CATAGAAAATCAATCCCTGGA	0.468000													41	272					3.76604e-16	4.23975e-16	1	1	0
SH3RF1	57630	broad.mit.edu	37	4	170057513	170057513	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:170057513G>A	ENST00000284637.9	-	5	1365	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	342						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCGCTGATCCGTGCAGCAGCA	0.542000													88	248					0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152959013	152959013	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:152959013C>T	ENST00000253122.5	+	7	1589	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	SLC6A8_ENST00000430077.2_Silent_p.G256G|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	371					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CAGAGCAGGGCGTGCACATCT	0.597000													38	71					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162769622	162769622	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:162769622C>G	ENST00000367917.3	+	5	605	c.537C>G	c.(535-537)ttC>ttG	p.F179L	HSD17B7_ENST00000254521.3_Missense_Mutation_p.F179L|HSD17B7_ENST00000485405.1_3'UTR			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	179					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	AATCTAATTTCAGCCTCGAGG	0.493000													4	50					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849831	72849831	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:72849831G>A	ENST00000344575.3	+	1	1723	c.1494G>A	c.(1492-1494)tcG>tcA	p.S498S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	498					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGACTGCTCGCTGCCAGGGG	0.657000													28	39					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145032560	145032560	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:145032560G>T	ENST00000360771.4	-	7	555	c.440C>A	c.(439-441)aCa>aAa	p.T147K	GYPB_ENST00000283126.7_Intron|GYPA_ENST00000503627.1_Missense_Mutation_p.T102K|GYPA_ENST00000512064.1_Missense_Mutation_p.T134K|GYPA_ENST00000324022.10_Missense_Mutation_p.T114K|GYPA_ENST00000504786.1_Missense_Mutation_p.T115K|GYPA_ENST00000512789.1_Missense_Mutation_p.T82K|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000535709.1_Missense_Mutation_p.T121K	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	147					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)					TTGATCACTTGTCTCTAGAAG	0.323000													4	24					2.56e-06	2.72762e-06	1	1	0
CHL1	10752	broad.mit.edu	37	3	440041	440041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:440041C>T	ENST00000256509.2	+	25	3868	c.3226C>T	c.(3226-3228)Caa>Taa	p.Q1076*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.Q1060*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1060					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAGCATTTTTCAAGATGTAAT	0.393000													21	70					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337588	12337588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:12337588C>T	ENST00000358136.3	+	19	4073	c.3943C>T	c.(3943-3945)Cga>Tga	p.R1315*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R1315*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1315					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAAAATTTTCGAGGTATGCT	0.428000													5	180					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789115	15789115	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:15789115G>A	ENST00000550308.1	+	3	623	c.243G>A	c.(241-243)tcG>tcA	p.S81S	CYP4F12_ENST00000324632.9_Silent_p.S81S	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCAGATGTCGGCCACCTATT	0.512000													32	127					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596701	58596701	+	Missense_Mutation	SNP	G	G	A	rs75484882		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:58596701G>A	ENST00000240727.6	-	7	1283	c.884C>T	c.(883-885)gCc>gTc	p.A295V	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A159V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A351V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A295V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	295					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGGGCGGCCTCCTCGCA	0.736000													6	31					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35297710	35297710	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:35297710C>T	ENST00000254457.5	+	2	1705	c.294C>T	c.(292-294)ctC>ctT	p.L98L	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	98	LIM zinc-binding 2.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACAAGCAGCTCTCCACTGGCG	0.522000													22	45					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66717828	66717828	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:66717828T>A	ENST00000247815.4	+	10	2422	c.2363T>A	c.(2362-2364)cTc>cAc	p.L788H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	788					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGCATACCTCTCAGACTTA	0.348000													12	552					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751																											GACAGCTTGACACTTGCCATT	0.373000													4	59					0	0	1	0	0
ARHGDIB	397	broad.mit.edu	37	12	15095593	15095593	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:15095593T>C	ENST00000228945.4	-	6	613	c.469A>G	c.(469-471)Act>Gct	p.T157A	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.T157A|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.T157A	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	157					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						TCAACTGGAGTGAGGAACTCA	0.517000													9	225					0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103607343	103607343	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:103607343A>G	ENST00000370033.4	-	26	2131	c.2012T>C	c.(2011-2013)cTg>cCg	p.L671P	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	671						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GTGGAAGGCCAGGTTTCTCCG	0.567000													15	81					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086408	171086408	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:171086408C>T	ENST00000367755.4	+	9	1536	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	FMO3_ENST00000542847.1_Silent_p.G455G|FMO3_ENST00000392085.2_Silent_p.G475G|FMO3_ENST00000538429.1_Silent_p.G412G	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	475					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCTGGTGGGCCCAGGGCAGT	0.552000													33	82					0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89074648	89074648	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:89074648G>T	ENST00000564406.1	-	3	482	c.322C>A	c.(322-324)Ctg>Atg	p.L108M	DET1_ENST00000268148.8_Missense_Mutation_p.L97M|DET1_ENST00000558413.1_Missense_Mutation_p.L52M|DET1_ENST00000444300.1_Missense_Mutation_p.L108M	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	97						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TATCCCTGCAGTAGGTCCTCT	0.488000													37	43					3.62531e-18	4.10715e-18	1	1	0
SHC2	25759	broad.mit.edu	37	19	425196	425196	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:425196G>A	ENST00000264554.6	-	10	1209	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	404	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGGCCCCGGGCGTCCGCC	0.687000													17	36					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	rs67389650		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:7577127C>T	ENST00000420246.2	-	8	943	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000269305.4_Missense_Mutation_p.E271K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACACGCACCTCAAAGCTGTTC	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	2					0	0	1	0	0
SOWAHA	134548	broad.mit.edu	37	5	132149779	132149779	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:132149779C>T	ENST00000378693.2	+	1	747	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	156	Pro-rich.																CGCTCAGCCGCCCGGGGAGCG	0.766000													6	6					0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27085727	27085727	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:27085727G>A	ENST00000341217.5	-	3	1465	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	FAM222B_ENST00000581407.1_Missense_Mutation_p.A417V|FAM222B_ENST00000452648.3_Missense_Mutation_p.A417V|FAM222B_ENST00000582266.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	417																	GAAGGACTGCGCCAGGCAGAG	0.647000													3	15					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34506142	34506142	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:34506142C>A	ENST00000374037.3	-	6	1331	c.917G>T	c.(916-918)aGc>aTc	p.S306I	SPDEF_ENST00000544425.1_Missense_Mutation_p.S290I	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	306					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GATGGAGCGGCTCAGCTTGTC	0.597000													41	217					4.78724e-31	5.52849e-31	1	1	0
BRIP1	83990	broad.mit.edu	37	17	59878828	59878828	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:59878828G>T	ENST00000259008.2	-	8	1193	c.926C>A	c.(925-927)tCc>tAc	p.S309Y	BRIP1_ENST00000577598.1_Missense_Mutation_p.S309Y	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	309	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AAAATAGCAGGATTTTCCCTA	0.338000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					18	76					5.03518e-11	5.63311e-11	1	1	0
CYFIP1	23191	broad.mit.edu	37	15	22997855	22997855	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:22997855G>A	ENST00000313077.7	+	27	3226	c.3101G>A	c.(3100-3102)cGa>cAa	p.R1034Q	CYFIP1_ENST00000560848.1_Missense_Mutation_p.R1034Q|CYFIP1_ENST00000435939.2_Missense_Mutation_p.R603Q	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1034					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATCTTGCCGCGAGTCCATGTG	0.567000													51	66					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9783218	9783218	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:9783218G>A	ENST00000536656.1	+	20	2742	c.2534G>A	c.(2533-2535)cGc>cAc	p.R845H	PIK3CD_ENST00000377346.4_Missense_Mutation_p.R821H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.R845H			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	821	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R821H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGGGGACCGCACAGGCCTC	0.602000													41	330					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10405162	10405162	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:10405162C>T	ENST00000221980.4	+	9	2139	c.2076C>T	c.(2074-2076)gcC>gcT	p.A692A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	692	Ig-like C2-type 8.				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)			CCTGCGCCGCCCGGGGTCGCC	0.672000													6	34					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87190586	87190586	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:87190586G>T	ENST00000265724.3	-	9	1237	c.820C>A	c.(820-822)Ctt>Att	p.L274I	ABCB1_ENST00000543898.1_Missense_Mutation_p.L210I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	274	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AACCTTTCAAGTTCTTTCTTT	0.358000													10	22					0.000978159	0.00102392	1	1	0
MORF4L2	9643	broad.mit.edu	37	X	102931680	102931680	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:102931680G>A	ENST00000423833.2	-	3	1501	c.276C>T	c.(274-276)agC>agT	p.S92S	MORF4L2_ENST00000422154.2_Silent_p.S92S|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000433176.2_Silent_p.S92S|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Silent_p.S92S|MORF4L2_ENST00000441076.2_Silent_p.S92S|MORF4L2_ENST00000360458.1_Silent_p.S92S			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	92					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						GAGGTGCTTCGCTGGTACTGC	0.547000													28	156					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33113426	33113426	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:33113426A>G	ENST00000306065.4	-	18	1887	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	577					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACGCCTTGGTAGCCCCAGCGG	0.532000													9	186					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912956	29912956	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:29912956C>T	ENST00000308748.5	+	1	916	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ASPHD1_ENST00000483405.1_5'UTR	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	222					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGCCATTTTGCGGGACTTCGG	0.667000													4	116					0	0	1	0	0
MIEF2	125170	broad.mit.edu	37	17	18167697	18167697	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:18167697C>T	ENST00000323019.4	+	4	1195	c.984C>T	c.(982-984)aaC>aaT	p.N328N	SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_Silent_p.N339N	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		328						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					TGGCGGGGAACCTCTGGCTGC	0.677000													25	95					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31677815	31677815	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:31677815C>T	ENST00000503322.1	+	4	662	c.659C>T	c.(658-660)gCt>gTt	p.A220V	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.A220V|LY6G6F_ENST00000375832.4_Missense_Mutation_p.A220V																							TCCATCGATGCTTCTCCTGCC	0.617000													17	48					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12984818	12984818	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:12984818C>A	ENST00000251472.4	+	26	3886	c.3847C>A	c.(3847-3849)Cgc>Agc	p.R1283S		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	1283					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGGCGCGCTGCGCAAACACAG	0.677000													14	6					4.35082e-09	4.77789e-09	1	1	0
ADCY8	114	broad.mit.edu	37	8	132051855	132051855	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:132051855A>C	ENST00000286355.5	-	1	2817	c.725T>G	c.(724-726)cTg>cGg	p.L242R	ADCY8_ENST00000377928.3_Missense_Mutation_p.L242R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	242					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGTACTGCAGGTACGTGTG	0.647000										HNSCC(32;0.087)			7	81					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26115877	26115877	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:26115877G>A	ENST00000313735.6	-	4	509	c.276C>T	c.(274-276)agC>agT	p.S92S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	92					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AAGTCATCCCGCTGCCCCAGT	0.542000													4	160					0	0	1	0	0
CSRNP2	81566	broad.mit.edu	37	12	51467832	51467832	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:51467832C>T	ENST00000228515.1	-	3	482	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	62					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						ATTCTTCCTCCGCAGCTGCTT	0.488000													46	121					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115805121	115805121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr9:115805121G>A	ENST00000374227.3	-	4	1804	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	ZFP37_ENST00000553380.1_Nonsense_Mutation_p.R608*|ZFP37_ENST00000555206.1_Nonsense_Mutation_p.R594*			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	593						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTGTGGGATCGCTGATGTATA	0.373000													17	25					0	0	1	0	0
C19orf54	284325	broad.mit.edu	37	19	41249885	41249885	+	Splice_Site	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:41249885T>C	ENST00000470681.1	-	5	530	c.103_splice	c.e5-1	p.A35_splice	C19orf54_ENST00000598729.1_Splice_Site_p.T43_splice|C19orf54_ENST00000339153.3_Splice_Site_p.T43_splice|C19orf54_ENST00000378313.2_Intron|C19orf54_ENST00000598485.2_Splice_Site_p.T43_splice			Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	0	Pro-rich.									breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCGTAGCTGGTGCTGGCATTA	0.617000													6	116					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823049	97823049	+	Missense_Mutation	SNP	C	C	T	rs61734170	byFrequency	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:97823049C>T	ENST00000297293.5	+	11	3565	c.3272C>T	c.(3271-3273)aCg>aTg	p.T1091M		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1091					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACCCCTGAGACGTTCACAGCT	0.602000													15	32					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74863239	74863239	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr9:74863239C>T	ENST00000358399.3	+	14	1439	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	GDA_ENST00000376986.1_Missense_Mutation_p.P371L|GDA_ENST00000238018.4_Missense_Mutation_p.P449L|GDA_ENST00000545168.1_Missense_Mutation_p.P375L|GDA_ENST00000376989.3_Missense_Mutation_p.P388L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	449					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.P449Q(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAGGTGGTTCCGTTTTCCAGC	0.443000													30	42					0	0	1	0	0
PALM2	114299	broad.mit.edu	37	9	112705561	112705561	+	Silent	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr9:112705561G>T	ENST00000448454.2	+	8	1098	c.1098G>T	c.(1096-1098)ggG>ggT	p.G366G	PALM2_ENST00000314527.4_Silent_p.G364G|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Silent_p.G330G|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000374531.2_Silent_p.G332G|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTATTGACGGGAACGCGGCTG	0.547000													26	94					2.79863e-10	3.11152e-10	1	1	0
CASKIN1	57524	broad.mit.edu	37	16	2233699	2233699	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:2233699G>A	ENST00000343516.6	-	16	1669	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	526	SAM 1.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GATCTCTGCCGCGATCTTCTT	0.652000													15	38					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833976	168833976	+	Missense_Mutation	SNP	C	C	T	rs149928659	by1000genomes	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:168833976C>T	ENST00000464456.1	-	7	2320	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	MECOM_ENST00000468789.1_Missense_Mutation_p.E374K|MECOM_ENST00000494292.1_Missense_Mutation_p.E562K|MECOM_ENST00000472280.1_Missense_Mutation_p.E375K|MECOM_ENST00000433243.2_Missense_Mutation_p.E375K|MECOM_ENST00000392736.3_Missense_Mutation_p.E374K|MECOM_ENST00000460814.1_Missense_Mutation_p.E374K|MECOM_ENST00000264674.3_Missense_Mutation_p.E439K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGGACCTCTCGGGCTGGAGC	0.493000													17	118					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260407	30260407	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr18:30260407G>A	ENST00000359358.4	-	6	1832	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	465						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CACTGCTCCCGCATGAGCCGC	0.463000													4	105					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18241317	18241317	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:18241317G>C	ENST00000262811.5	+	13	1150	c.1150G>C	c.(1150-1152)Gtg>Ctg	p.V384L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	384	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGTCTACCTGGTGCGGCACCG	0.592000													5	29					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26706498	26706498	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:26706498C>T	ENST00000272371.2	-	13	1350	c.1224G>A	c.(1222-1224)gaG>gaA	p.E408E	OTOF_ENST00000403946.3_Silent_p.E408E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	408	C2 2.				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)					GGGGCACCCCCTCGGGGAGCA	0.607000													11	25					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199041	155199041	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:155199041T>G	ENST00000460012.1	-	23	5041	c.4684A>C	c.(4684-4686)Aac>Cac	p.N1562H	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.N1562H|PLCH1_ENST00000334686.6_Missense_Mutation_p.N1562H|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.N1600H			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1600					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCTGCTTGTTGGCTTCCTGT	0.552000													11	184					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26553108	26553108	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:26553108T>C	ENST00000381340.3	-	53	7899	c.7483A>G	c.(7483-7485)Agg>Ggg	p.R2495G	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2495					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCGCCATTCCTGAGGCCCTGG	0.428000													6	185					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100084786	100084786	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:100084786G>A	ENST00000423930.1	+	3	570	c.411G>A	c.(409-411)acG>acA	p.T137T	NYAP1_ENST00000300179.2_Silent_p.T137T|NYAP1_ENST00000454988.1_Silent_p.T80T			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	137																	GGGCAGAGACGCCCCCCAGCA	0.667000													18	37					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900338	133900338	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:133900338G>C	ENST00000220616.4	+	10	2326	c.2286G>C	c.(2284-2286)caG>caC	p.Q762H	TG_ENST00000377869.1_Missense_Mutation_p.Q762H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	762	Thyroglobulin type-1 7.				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)		ACATCCCACAGTGCAGCACCG	0.567000													4	109					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448845	89448845	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:89448845C>A	ENST00000399794.2	-	3	1380	c.665G>T	c.(664-666)aGc>aTc	p.S222I	CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.S222I|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	222							nucleotide binding|RNA binding										GTAATCTCTGCTTGAATAGCT	0.443000													11	137					0.00829132	0.00852957	1	1	0
HERC2	8924	broad.mit.edu	37	15	28502312	28502312	+	Silent	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:28502312G>C	ENST00000261609.7	-	17	2520	c.2412C>G	c.(2410-2412)ctC>ctG	p.L804L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	804					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCGAAGCAGGAGATCCAGCT	0.562000													37	37					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9515647	9515647	+	Silent	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:9515647C>A	ENST00000352665.5	+	8	945	c.876C>A	c.(874-876)ggC>ggA	p.G292G	WDR16_ENST00000299764.5_Silent_p.G302G|WDR16_ENST00000396219.3_Silent_p.G224G	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	292						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TACAAGGCGGCATCACTTCTA	0.438000													6	77					5.9392e-07	6.40432e-07	1	1	0
LOC401127	401127	broad.mit.edu	37	4	39482732	39482732	+	RNA	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr4:39482732G>A	ENST00000513652.1	+	0	739																											ACAACCCCTGGTGTCTTTCGT	0.532000													16	52					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112095887	112095887	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:112095887G>T	ENST00000403825.3	+	2	425	c.164G>T	c.(163-165)aGt>aTt	p.S55I	IFRD1_ENST00000535603.1_Missense_Mutation_p.S5I|IFRD1_ENST00000005558.4_Missense_Mutation_p.S55I|IFRD1_ENST00000429071.1_Missense_Mutation_p.S55I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	55					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGCCATTGCAGTGGTTATAGC	0.358000													5	66					0.184627	0.184627	1	1	0
NUP93	9688	broad.mit.edu	37	16	56875706	56875706	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:56875706G>A	ENST00000564887.1	+	19	2570	c.1941G>A	c.(1939-1941)tcG>tcA	p.S647S	NUP93_ENST00000308159.5_Silent_p.S770S|NUP93_ENST00000569842.1_Silent_p.S770S|NUP93_ENST00000542526.1_Silent_p.S647S	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	770					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTCCATCCTCGTCATCCAGGC	0.507000													39	81					0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261848	23261848	+	Silent	SNP	A	A	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr15:23261848A>G	ENST00000450802.3	+	12	1058	c.960A>G	c.(958-960)ggA>ggG	p.G320G																								GAGTGGCAGGAGCGCTCCAGG	0.592000													4	48					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651501	96651501	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:96651501C>G	ENST00000302103.5	+	3	796	c.470C>G	c.(469-471)aCt>aGt	p.T157S		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	157					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGACTCTGACTTACCGCCGT	0.463000													41	29					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783370	115783370	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:115783370G>A	ENST00000343348.6	-	19	2819	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	SEMA6A_ENST00000510263.1_Missense_Mutation_p.R678C|SEMA6A_ENST00000503865.1_Missense_Mutation_p.R57C|SEMA6A_ENST00000257414.8_Missense_Mutation_p.R695C|SEMA6A_ENST00000282394.6_Missense_Mutation_p.R155C|SEMA6A_ENST00000513137.1_Missense_Mutation_p.R105C|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	678					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ACGTCTTTGCGCCGATGATCA	0.627000													18	24					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363716	4363716	+	Splice_Site	SNP	C	C	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:4363716C>A	ENST00000269886.3	-	6	803		c.e6+1		SH3GL1_ENST00000598564.1_Splice_Site|SH3GL1_ENST00000417295.2_Splice_Site	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GAGCTACTCACGTCAGTCTCC	0.617000			T	MLL	AL								22	92					1.10923e-09	1.22563e-09	1	1	0
ZNF713	349075	broad.mit.edu	37	7	55990881	55990881	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:55990881C>T	ENST00000429591.2	+	2	113	c.75C>T	c.(73-75)gcC>gcT	p.A25A	MRPS17_ENST00000426595.1_Silent_p.A25A|ZNF713_ENST00000482436.1_3'UTR	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGGATGTGGCCGTGGACTTCA	0.517000													62	140					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20785014	20785014	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:20785014G>A	ENST00000404938.2	+	26	4034	c.3382G>A	c.(3382-3384)Gcc>Acc	p.A1128T	ABCB5_ENST00000258738.6_Missense_Mutation_p.A683T	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	683					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATCAAAGAAGCCGCAAATGC	0.423000													25	61					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596526	58596526	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:58596526G>A	ENST00000240727.6	-	7	1458	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	ZSCAN18_ENST00000421612.2_Silent_p.S217S|ZSCAN18_ENST00000600404.1_Silent_p.S409S|ZSCAN18_ENST00000601144.1_Silent_p.S353S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCTGGATGACGGACTGCCTCT	0.697000													17	30					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	44					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21628612	21628612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:21628612G>A	ENST00000444129.2	-	9	1564	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	RECQL_ENST00000421138.2_Nonsense_Mutation_p.Q366*	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	366	Helicase C-terminal.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GACCTAACCTGAATTTCATTG	0.328000								Other identified genes with known or suspected DNA repair function					46	63					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153668410	153668410	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:153668410G>A	ENST00000447750.2	+	5	846	c.511G>A	c.(511-513)Gtc>Atc	p.V171I		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	171					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCGTGACGTCTACCGGAA	0.572000													6	668					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	91936800	91936800	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:91936800C>T	ENST00000265742.3	+	3	692	c.316C>T	c.(316-318)Ccc>Tcc	p.P106S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	106							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGGCACGCCCCACAGAAGA	0.418000													15	88					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599946	3599946	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:3599946G>T	ENST00000302006.3	+	2	936	c.884G>T	c.(883-885)cGc>cTc	p.R295L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	295						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGCAGCACGCGCCTGCTGAGC	0.741000													4	8					0.00024832	0.000261466	1	1	0
GRIN2C	2905	broad.mit.edu	37	17	72850931	72850931	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr17:72850931T>A	ENST00000293190.5	-	2	447	c.301A>T	c.(301-303)Acc>Tcc	p.T101S	GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.T101S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	101					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACCGCCTCGGTGTCCACGTTG	0.627000													6	35					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237579	33237579	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:33237579G>A	ENST00000401073.2	+	6	2869	c.2799G>A	c.(2797-2799)gcG>gcA	p.A933A	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Silent_p.A874A|KIAA1522_ENST00000373481.3_Silent_p.A885A	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	874	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCATGCTGCGGTCCGACTCA	0.711000													13	8					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112150397	112150397	+	Translation_Start_Site	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:112150397G>A	ENST00000392636.2	+	0	986				ACAD10_ENST00000549590.1_Silent_p.T262T|ACAD10_ENST00000455480.2_Silent_p.T293T|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Silent_p.T262T			Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10								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						TGAAAAAGACGATGGAAATTC	0.443000													4	150					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33371121	33371121	+	Missense_Mutation	SNP	G	G	A	rs142037402		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:33371121G>A	ENST00000428849.2	+	4	731	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	94					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						ACAGGACCCCGGTGTTCCACA	0.493000													4	180					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171330139	171330139	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr3:171330139G>C	ENST00000356327.5	-	24	2768	c.2698C>G	c.(2698-2700)Cct>Gct	p.P900A	PLD1_ENST00000340989.4_Missense_Mutation_p.P938A|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.P938A	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	938	Catalytic.|PLD phosphodiesterase 2.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATTACTGAAGGAACAGTCTCT	0.498000													21	120					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871061	170871061	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:170871061G>A	ENST00000392092.2	+	3	516	c.237G>A	c.(235-237)caG>caA	p.Q79Q	TBP_ENST00000230354.6_Silent_p.Q79Q|TBP_ENST00000540980.1_Silent_p.Q59Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	79	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q79Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.582000													11	64					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220641	130220641	+	Splice_Site	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:130220641T>A	ENST00000276211.5	+	11	1831		c.e11+2		ARHGAP36_ENST00000370921.1_Splice_Site|ARHGAP36_ENST00000370922.1_Splice_Site	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGATGAAGGTCAGTTCCCTG	0.537000													24	65					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102307270	102307270	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:102307270T>A	ENST00000369138.1	+	10	1916	c.1426T>A	c.(1426-1428)Ttt>Att	p.F476I	GRIK2_ENST00000369137.3_Missense_Mutation_p.F476I|GRIK2_ENST00000421544.1_Missense_Mutation_p.F476I|GRIK2_ENST00000318991.6_Missense_Mutation_p.F476I|GRIK2_ENST00000369134.4_Missense_Mutation_p.F427I|GRIK2_ENST00000413795.1_Missense_Mutation_p.F476I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	476					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AATCCTTGGCTTTACATATGA	0.383000													12	54					0	0	1	0	0
FGF19	9965	broad.mit.edu	37	11	69514295	69514295	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:69514295T>A	ENST00000294312.3	-	3	1151	c.386A>T	c.(385-387)gAt>gTt	p.D129V		NM_005117.2	NP_005108.1	O95750	FGF19_HUMAN	fibroblast growth factor 19	129					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			large_intestine(2)|lung(2)|skin(2)	6	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			ATTGTAGCCATCTGGGCGGAT	0.562000													14	458					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175946	57175946	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:57175946C>T	ENST00000537055.2	-	2	852	c.621G>A	c.(619-621)acG>acA	p.T207T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGTCAGGTGCGTGACGCGCG	0.721000													8	32					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31917333	31917333	+	Splice_Site	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:31917333C>T	ENST00000456570.1	+	22	2968	c.2914_splice	c.e22+1	p.I971_splice	CFB_ENST00000425368.2_Splice_Site_p.I469_splice|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Splice_Site_p.I820_splice|CFB_ENST00000556679.1_Splice_Site_p.I971_splice			P00751	CFAB_HUMAN	complement factor B	469					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCAAATGATCGGTAGGGAGA	0.418000													14	52					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83855308	83855308	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:83855308G>T	ENST00000349129.2	+	25	5867	c.5607G>T	c.(5605-5607)atG>atT	p.M1869I	DOPEY1_ENST00000237163.5_Missense_Mutation_p.M1850I|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.M1860I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1869					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCAGTGTCATGAGAGCAGAAA	0.378000													6	59					0.00116845	0.001216	1	1	0
SBK2	646643	broad.mit.edu	37	19	56041199	56041199	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:56041199G>A	ENST00000413299.1	-	4	985	c.948C>T	c.(946-948)agC>agT	p.S316S	SBK2_ENST00000344158.3_Silent_p.S316S	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	316	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGATCACAGCGCTCCTCCTTC	0.756000													15	50					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17110638	17110638	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:17110638A>C	ENST00000377833.4	-	20	2822	c.2757T>G	c.(2755-2757)caT>caG	p.H919Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	919	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCATGAAACCATGGTTTTCAG	0.348000													33	104					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102883490	102883490	+	RNA	SNP	A	A	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:102883490A>C	ENST00000312132.4	-	0	2619																											CCAGTTCAGTACCACTGTAAA	0.303000													3	22					0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3838738	3838738	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:3838738T>G	ENST00000278243.4	+	3	522	c.321T>G	c.(319-321)ttT>ttG	p.F107L	PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.F107L|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000493547.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000532017.1_Intron	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	107					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TGTTCCACTTTGAGTACACGG	0.572000													21	23					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38282108	38282108	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:38282108C>T	ENST00000447712.2	-	7	1796	c.855G>A	c.(853-855)ccG>ccA	p.P285P	FGFR1_ENST00000326324.6_Silent_p.P194P|FGFR1_ENST00000425967.3_Silent_p.P316P|FGFR1_ENST00000397103.1_Silent_p.P194P|FGFR1_ENST00000397091.5_Silent_p.P283P|FGFR1_ENST00000397113.2_Silent_p.P283P|FGFR1_ENST00000356207.5_Silent_p.P196P|FGFR1_ENST00000341462.5_Silent_p.P286P|FGFR1_ENST00000335922.5_Silent_p.P277P|FGFR1_ENST00000397108.4_Silent_p.P283P|FGFR1_ENST00000532791.1_Silent_p.P285P|RP11-350N15.4_ENST00000528407.1_RNA	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	285	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	ACTGGATGTGCGGCTGCGGGT	0.552000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						10	1662					0	0	1	0	0
TSPAN13	27075	broad.mit.edu	37	7	16815972	16815972	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:16815972C>T	ENST00000262067.4	+	2	633	c.200C>T	c.(199-201)gCt>gTt	p.A67V	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	67						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		CTGATTGGAGCTGTAAAACAT	0.393000													20	60					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42824573	42824573	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:42824573C>G	ENST00000598766.1	+	13	1250	c.1250C>G	c.(1249-1251)gCc>gGc	p.A417G	TMEM145_ENST00000301204.3_Missense_Mutation_p.A393G			Q8NBT3	TM145_HUMAN	transmembrane protein 145	393						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CACTTGTACGCCCATGGCGTG	0.592000													26	92					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287550	16287550	+	Silent	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:16287550G>A	ENST00000343518.6	-	1	387	c.336C>T	c.(334-336)agC>agT	p.S112S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	112								p.S112S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCTCTTGCCGCTCCCCCTGC	0.587000													78	110					0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39378468	39378468	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr22:39378468C>G	ENST00000402182.3	+	1	65	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.Q4E|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.Q4E			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	4					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CATGAATCCACAGATCAGGTA	0.602000													53	47					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114039	56114039	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:56114039T>G	ENST00000279783.2	+	1	619	c.525T>G	c.(523-525)tgT>tgG	p.C175W		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGTCCTTCTGTGGCTCAAACA	0.353000										HNSCC(65;0.19)			48	111					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAATCTTTGCGGGCCATCAG	0.517000													5	390					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	80001091	80001091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:80001091G>A	ENST00000373275.4	-	7	784	c.568C>T	c.(568-570)Cga>Tga	p.R190*		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	190										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCCCGCTTCGGTCAAATGCT	0.378000													21	21					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38205401	38205401	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr8:38205401C>T	ENST00000317025.8	-	2	806	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A97T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A97T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A97T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	97					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAGCCATTGGCTGACCCATTA	0.398000			T	NUP98	AML								18	1662					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917400	4917400	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:4917400T>A	ENST00000399583.3	-	2	558	c.371A>T	c.(370-372)cAg>cTg	p.Q124L	RADIL_ENST00000536091.1_Missense_Mutation_p.Q124L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	124	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGCCACCGCTGCCCAGCATC	0.637000													26	252					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135107509	135107509	+	Splice_Site	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:135107509C>T	ENST00000409645.1	+	10	1498	c.1246_splice	c.e10+1	p.P416_splice	MGAT5_ENST00000281923.2_Splice_Site_p.P416_splice			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	416					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TACCATGTTCCGTGAGTATTC	0.418000													23	21					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756557	71756557	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr5:71756557G>T	ENST00000318442.5	-	2	1257	c.767C>A	c.(766-768)cCc>cAc	p.P256H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTCGCAGGTGGGGCACTGCCA	0.622000													28	140					2.36697e-06	2.53706e-06	1	1	0
CCDC93	54520	broad.mit.edu	37	2	118766157	118766157	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr2:118766157G>T	ENST00000376300.2	-	2	257	c.120C>A	c.(118-120)ttC>ttA	p.F40L	CCDC93_ENST00000319432.5_Missense_Mutation_p.F40L|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	40										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTCTTGCCCTGAAATACCCAG	0.373000													51	139					4.96213e-28	5.69373e-28	1	1	0
NR1H3	10062	broad.mit.edu	37	11	47282095	47282095	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:47282095G>A	ENST00000467728.1	+	3	1606	c.368G>A	c.(367-369)cGc>cAc	p.R123H	NR1H3_ENST00000395397.3_Missense_Mutation_p.R78H|NR1H3_ENST00000481889.2_Missense_Mutation_p.R78H|NR1H3_ENST00000407404.1_Missense_Mutation_p.R123H|NR1H3_ENST00000405576.1_Missense_Mutation_p.R78H|NR1H3_ENST00000527949.1_Missense_Mutation_p.R32H|NR1H3_ENST00000441012.2_Missense_Mutation_p.R123H|NR1H3_ENST00000405853.3_Missense_Mutation_p.R123H|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	123					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGATTCTTCCGCCGCAGCGTC	0.612000													21	30					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69934124	69934124	+	Silent	SNP	C	C	G			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr11:69934124C>G	ENST00000355303.5	+	2	680	c.375C>G	c.(373-375)cgC>cgG	p.R125R	ANO1_ENST00000398543.2_Silent_p.R9R|ANO1_ENST00000530676.1_Silent_p.R9R|ANO1_ENST00000316296.5_Silent_p.R97R|ANO1_ENST00000538023.1_Silent_p.R125R	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	125					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ATGACAAGCGCTTCCGCAGGG	0.677000													15	143					0	0	1	0	0
MINPP1	9562	broad.mit.edu	37	10	89268241	89268241	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr10:89268241A>T	ENST00000371996.4	+	2	827	c.786A>T	c.(784-786)ttA>ttT	p.L262F	MINPP1_ENST00000371994.4_Missense_Mutation_p.L262F|MINPP1_ENST00000536010.1_Missense_Mutation_p.L61F	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	262					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		AGAACATTTTAAAAAAAGTTG	0.318000													13	23					0	0	1	0	0
LDOC1	23641	broad.mit.edu	37	X	140271120	140271120	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:140271120C>T	ENST00000370526.2	-	1	190	c.87G>A	c.(85-87)caG>caA	p.Q29Q	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	29					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GCAGCCGCAGCTGTTCCATGA	0.662000													27	17					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323066	29323066	+	Missense_Mutation	SNP	T	T	A			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr6:29323066T>A	ENST00000377154.1	-	4	1206	c.907A>T	c.(907-909)Act>Tct	p.T303S	OR5V1_ENST00000543825.1_Missense_Mutation_p.T303S			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCCTATAGTTTTGACAGCT	0.368000													7	149					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40027384	40027384	+	Missense_Mutation	SNP	C	C	T	rs1804943		TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr1:40027384C>T	ENST00000372857.3	-	15	2713	c.1921G>A	c.(1921-1923)Gct>Act	p.A641T	PABPC4_ENST00000372862.3_Missense_Mutation_p.A612T|PABPC4_ENST00000372856.3_Missense_Mutation_p.A628T|PABPC4_ENST00000372858.3_Missense_Mutation_p.A657T	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	641					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGGTAGCAGCAGCAACAGCG	0.468000													12	44					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													6	73					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139591	101139591	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chrX:101139591G>C	ENST00000458570.1	-	9	1625	c.295C>G	c.(295-297)Caa>Gaa	p.Q99E	ZMAT1_ENST00000540921.1_Missense_Mutation_p.Q270E|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000372782.3_Missense_Mutation_p.Q270E			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	99						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GGGAGTCTTTGTTCAAACATT	0.418000													12	138					0	0	1	0	0
STAG3L4	64940	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166	by1000genomes	TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr7:66767610_66767611insG	ENST00000416602.2	+	0	3_4					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				CACCGGACTGCTTTTTTTTTTT	0.545													3	3	---	---	---	---					
USP15	9958	broad.mit.edu	37	12	62798030	62798030	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr12:62798030delT	ENST00000280377.5	+	22	2879	c.2821delT	c.(2821-2823)ttfs	p.F942fs	USP15_ENST00000393654.3_Frame_Shift_Del_p.F917fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.F913fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	942					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGGAACTGGCTTTTTTCCTCT	0.383													7	762	---	---	---	---					
PAX9	5083	broad.mit.edu	37	14	37132259	37132266	+	Frame_Shift_Del	DEL	CAAGATCC	CAAGATCC	-			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr14:37132259_37132266delCAAGATCC	ENST00000361487.6	+	2	387_394	c.162_169delCAAGATCC	c.(160-171)agtgfs	p.SKIL54fs	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Frame_Shift_Del_p.SKIL54fs			P55771	PAX9_HUMAN	paired box 9	54	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			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)		GCTGCGTCAGCAAGATCCTGGCGCGATA	0.644													13	85	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-KU-A66T-01A-11D-A30E-08	TCGA-KU-A66T-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84326edb-8c62-4778-94f3-07aed54de422	596588cd-d40e-448a-8e4f-d43fef47892d	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)del	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744													3	5	---	---	---	---