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
CSMD2	114784	broad.mit.edu	37	1	34158623	34158623	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:34158623G>A	ENST00000373381.4	-	25	4135	c.3959C>T	c.(3958-3960)tCg>tTg	p.S1320L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.S193L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1280	CUB 8.					integral to membrane|plasma membrane	protein binding	p.S1280L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACCTGCCCCGACACCTCTCC	0.572000													4	195					0	0	1	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666711	116666711	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:116666711G>A	ENST00000369500.3	+	4	479	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	72										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TCAGTTCCTCGTCACAGTCCC	0.572000													19	77					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													5	27					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94748598	94748598	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr8:94748598G>A	ENST00000399300.2	-	3	254	c.41C>T	c.(40-42)gCg>gTg	p.A14V	RBM12B_ENST00000517700.1_Missense_Mutation_p.A14V|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	14							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CACAGGCCCCGCAATAAAAGG	0.438000													4	111					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88469757	88469757	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr10:88469757A>C	ENST00000429277.2	+	9	1341	c.1196A>C	c.(1195-1197)aAg>aCg	p.K399T	LDB3_ENST00000458213.2_Missense_Mutation_p.K284T|LDB3_ENST00000361373.4_Missense_Mutation_p.K394T|LDB3_ENST00000352360.5_Missense_Mutation_p.K137T|LDB3_ENST00000263066.6_Missense_Mutation_p.K284T	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	394						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CCTGCACCCAAGCCCCGGGTT	0.682000													7	32					0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104682730	104682730	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:104682730G>A	ENST00000526691.1	+	2	488	c.32G>A	c.(31-33)gGa>gAa	p.G11E	TXNRD1_ENST00000429002.2_Missense_Mutation_p.G109E|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000542918.1_Missense_Mutation_p.G9E|TXNRD1_ENST00000388854.3_Missense_Mutation_p.G11E|TXNRD1_ENST00000525566.1_Missense_Mutation_p.G109E|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000378070.4_Missense_Mutation_p.G58E|TXNRD1_ENST00000354940.6_Intron	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	109					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GCCCTGGAAGGAACGCTCTCG	0.607000													46	126					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:142713944C>T	ENST00000369381.2	-	0	661																											TGATTACCTCCGAAGTTAAAG	0.308000													4	13					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52380763	52380763	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:52380763C>T	ENST00000420323.2	+	11	2193	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	644	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGGGGTGACGACTTAATTA	0.602000													5	31					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33772198	33772198	+	Translation_Start_Site	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:33772198G>A	ENST00000531080.1	-	0	384				FBXO3_ENST00000526785.1_Silent_p.H160H|FBXO3_ENST00000530401.1_Silent_p.H268H|FBXO3_ENST00000532057.1_De_novo_Start_OutOfFrame|FBXO3_ENST00000534136.1_Silent_p.H273H|FBXO3_ENST00000448981.2_Silent_p.H273H|FBXO3_ENST00000265651.3_Silent_p.H273H			Q9UK99	FBX3_HUMAN	F-box protein 3						proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ATTCTGGATCGTGAACATATC	0.333000													3	29					0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35177602	35177602	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:35177602G>A	ENST00000279022.2	+	4	573	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	MYL9_ENST00000346786.2_Missense_Mutation_p.V103M|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	157	EF-hand 3.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTTCAACTACGTGGAGTTCAC	0.607000													8	81					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25457599	25457599	+	Silent	SNP	C	C	T	rs144928426	by1000genomes	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:25457599C>T	ENST00000278886.6	-	17	2401	c.2328G>A	c.(2326-2328)tcG>tcA	p.S776S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	776					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGCTGCTCCGACCTCTGGC	0.692000													6	32					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915572	119915572	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:119915572C>T	ENST00000331113.4	+	1	1851	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	296					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CCGAGTCTTCCGGGTCTTCAG	0.522000													5	47					0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148453782	148453782	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:148453782G>A	ENST00000324300.5	+	4	1188	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	225					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GATTGGCTTCGTCATGGTACC	0.423000													16	98					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65304213	65304213	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:65304213C>T	ENST00000524944.1	+	13	1841	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	SCYL1_ENST00000420247.2_Missense_Mutation_p.T603M|SCYL1_ENST00000270176.5_Missense_Mutation_p.T603M|SCYL1_ENST00000533862.1_Missense_Mutation_p.T603M|SCYL1_ENST00000527630.1_Missense_Mutation_p.T603M|SCYL1_ENST00000527009.1_Missense_Mutation_p.T460M|SCYL1_ENST00000525364.1_Missense_Mutation_p.T603M|SCYL1_ENST00000279270.6_Missense_Mutation_p.T603M			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	603	Pro-rich.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CAAAGACCCACGCCTGAAGGT	0.617000													17	86					0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50367302	50367302	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:50367302G>T	ENST00000315520.5	+	1	683	c.346G>T	c.(346-348)Gct>Tct	p.A116S	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	116					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GGTGGGGGCTGCTCTGCTTTA	0.672000													5	40					0.000602214	0.000625156	1	1	0
KIF26B	55083	broad.mit.edu	37	1	245862231	245862231	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:245862231C>T	ENST00000366518.4	+	11	5031	c.4927C>T	c.(4927-4929)Cgc>Tgc	p.R1643C	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTGGAACACCGCCAGCAGAG	0.567000													7	70					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	23					0.004672	0.00475933	1	1	0
KIFAP3	22920	broad.mit.edu	37	1	169890826	169890826	+	Silent	SNP	A	A	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:169890826A>G	ENST00000367765.1	-	20	3751	c.2250T>C	c.(2248-2250)taT>taC	p.Y750Y	KIFAP3_ENST00000538366.1_Silent_p.Y712Y|KIFAP3_ENST00000540905.1_Silent_p.Y492Y|KIFAP3_ENST00000361580.2_Silent_p.Y790Y|KIFAP3_ENST00000367767.1_Silent_p.Y746Y	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	790					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAAGATCCATAGCCATAGT	0.433000													10	22					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1043229	1043229	+	Missense_Mutation	SNP	G	G	A	rs143033789		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:1043229G>A	ENST00000263094.6	+	8	1000	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	ABCA7_ENST00000435683.2_Missense_Mutation_p.A119T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A257T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	257					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGAATCCGCCCTGCCAGA	0.642000													8	141					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179391793	179391793	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:179391793C>T	ENST00000589042.1	-	363	108146	c.107922G>A	c.(107920-107922)ggG>ggA	p.G35974G	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.G34333G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.G26909G|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Silent_p.G27034G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_Silent_p.G27101G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342992.6_Silent_p.G33406G|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34333							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATTCATTCCCTAAACTCA	0.423000													3	35					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129083914	129083914	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:129083914C>T	ENST00000249344.2	+	3	289	c.249C>T	c.(247-249)tgC>tgT	p.C83C	STRIP2_ENST00000435494.2_Silent_p.C83C	NM_020704.2	NP_065755.1			striatin interacting protein 2																		ACAGGAGGTGCTTTGAAGAAG	0.388000													8	46					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785384	11785384	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr16:11785384C>T	ENST00000356957.3	-	9	1850	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E	TXNDC11_ENST00000283033.5_Silent_p.E554E			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	581					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATACCTGTTCTCCTCAATGT	0.458000													18	131					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681058	161681058	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:161681058G>A	ENST00000540926.1	+	4	604	c.311G>A	c.(310-312)cGc>cAc	p.R104H	FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.R104H|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.R121H|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.R98H|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.R115H|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	98	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGGTTCTGCGCTGCCAGGCC	0.597000													4	40					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62960205	62960205	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:62960205A>G	ENST00000393630.3	+	30	4692	c.4301A>G	c.(4300-4302)gAg>gGg	p.E1434G	MON2_ENST00000546600.1_Missense_Mutation_p.E1433G|MON2_ENST00000393632.2_Missense_Mutation_p.E1433G|MON2_ENST00000280379.6_Missense_Mutation_p.E1434G|MON2_ENST00000393629.2_Missense_Mutation_p.E1427G|MON2_ENST00000552738.1_Missense_Mutation_p.E1404G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1434					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GTGGTGAATGAGAAAGTGCTC	0.338000													10	78					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200631	101200631	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:101200631G>A	ENST00000341267.4	+	5	792	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	DLK1_ENST00000331224.6_Missense_Mutation_p.V184I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	184	EGF-like 5.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GAACGACGGCGTCTGCACTGA	0.667000													4	117					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116246482	116246482	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr9:116246482G>A	ENST00000374140.2	+	7	799	c.590G>A	c.(589-591)aGa>aAa	p.R197K	RGS3_ENST00000350696.5_Missense_Mutation_p.R197K|RGS3_ENST00000317613.6_Missense_Mutation_p.R85K	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	197	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAGACTGCAGAGACCCGGCT	0.483000													5	74					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108818259	108818259	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:108818259C>T	ENST00000232603.5	-	6	451	c.369G>A	c.(367-369)acG>acA	p.T123T	MORC1_ENST00000483760.1_Silent_p.T123T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	123					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACAGGTCATCGTTTCTTCCT	0.343000													4	47					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18137344	18137344	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:18137344G>A	ENST00000316843.4	+	6	665	c.569G>A	c.(568-570)cGc>cAc	p.R190H		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	190					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GACGACTACCGCTGTGGGAAG	0.647000													7	20					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210536201	210536201	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr1:210536201G>C	ENST00000367010.1	+	3	324	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	HHAT_ENST00000545781.1_Intron|HHAT_ENST00000545154.1_Missense_Mutation_p.E34Q|HHAT_ENST00000541565.1_Missense_Mutation_p.E33Q|HHAT_ENST00000261458.3_Missense_Mutation_p.E33Q|HHAT_ENST00000537898.1_Missense_Mutation_p.E33Q|HHAT_ENST00000308852.6_Intron|HHAT_ENST00000413764.2_Missense_Mutation_p.E33Q|HHAT_ENST00000391905.3_Missense_Mutation_p.E33Q	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	33					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCAGAACACGAAGAGGAGCT	0.398000													22	61					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148858922	148858922	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:148858922G>A	ENST00000296051.2	+	3	971	c.831G>A	c.(829-831)acG>acA	p.T277T	HPS3_ENST00000460120.1_Silent_p.T112T	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	277						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGGAGTCTACGGGATTAGCTG	0.373000									Hermansky-Pudlak syndrome				4	75					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99690578	99690578	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:99690578G>A	ENST00000303887.5	-	15	2782	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	MCM7_ENST00000343023.6_Missense_Mutation_p.R383W|MCM7_ENST00000354230.3_Missense_Mutation_p.R537W	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	713	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ATCCGTGTCCGGGAAGCATTG	0.587000													5	120					0	0	1	0	0
ETFB	2109	broad.mit.edu	37	19	51856530	51856530	+	Silent	SNP	G	G	A	rs147509776		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:51856530G>A	ENST00000354232.4	-	2	2971	c.504C>T	c.(502-504)acC>acT	p.T168T	CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000309244.4_Silent_p.T77T|CTD-2616J11.11_ENST00000600067.1_3'UTR	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	77					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TGGCCAGGGCGGTACGAATCG	0.647000													4	97					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27220087	27220087	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr9:27220087C>T	ENST00000380036.4	+	21	3586	c.3144C>T	c.(3142-3144)taC>taT	p.Y1048Y	TEK_ENST00000519097.1_Silent_p.Y900Y|TEK_ENST00000406359.4_Silent_p.Y1005Y	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1048	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGAACTCTACGAGAAGCTGC	0.532000													5	102					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53815463	53815463	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:53815463C>T	ENST00000396328.1	-	19	3444	c.3205G>A	c.(3205-3207)Gtg>Atg	p.V1069M	WDR72_ENST00000559418.1_Missense_Mutation_p.V1079M|WDR72_ENST00000360509.5_Missense_Mutation_p.V1069M|WDR72_ENST00000557913.1_Missense_Mutation_p.V1066M|WDR72_ENST00000567224.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1069										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATGTCCTCCACGTCTTGGAAG	0.448000													24	170					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750301	79750301	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:79750301C>T	ENST00000305428.3	+	2	1887	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	604						integral to membrane		p.G604G(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCAGGATTGGCGAAATTGAAC	0.517000													7	112					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89876415	89876415	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:89876415C>T	ENST00000268124.5	-	2	904	c.571G>A	c.(571-573)Gag>Aag	p.E191K	POLG_ENST00000442287.2_Missense_Mutation_p.E191K|POLG_ENST00000525806.1_5'UTR	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	191					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCCCGCTCCTCGGGGATGGCC	0.716000								DNA polymerases (catalytic subunits)					12	33					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123601251	123601251	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:123601251C>T	ENST00000336139.4	-	3	708	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ZNF202_ENST00000530393.1_Missense_Mutation_p.E116K|ZNF202_ENST00000529691.1_Missense_Mutation_p.E116K			O95125	ZN202_HUMAN	zinc finger protein 202	116	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GTCACTGCCTCCTCGCCACTT	0.587000													5	117					0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76692048	76692048	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:76692048T>C	ENST00000538159.1	+	6	476	c.476T>C	c.(475-477)gTg>gCg	p.V159A	USO1_ENST00000514213.2_Missense_Mutation_p.V142A			O60763	USO1_HUMAN	USO1 vesicle transport factor	157	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGCCTCAGGTGCAACAAATT	0.353000													15	134					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92509196	92509196	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr10:92509196A>G	ENST00000371721.3	-	2	937	c.695T>C	c.(694-696)tTg>tCg	p.L232S	HTR7_ENST00000336152.3_Missense_Mutation_p.L232S|HTR7_ENST00000277874.6_Missense_Mutation_p.L232S|HTR7_ENST00000371719.2_Missense_Mutation_p.L232S			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	232					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CTGGCTGATCAAGCACACCTT	0.463000													11	72					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123601252	123601252	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:123601252C>A	ENST00000336139.4	-	3	707	c.345G>T	c.(343-345)gaG>gaT	p.E115D	ZNF202_ENST00000530393.1_Missense_Mutation_p.E115D|ZNF202_ENST00000529691.1_Missense_Mutation_p.E115D			O95125	ZN202_HUMAN	zinc finger protein 202	115	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCACTGCCTCCTCGCCACTTT	0.587000													5	116					0.014758	0.0148946	1	1	0
IGHG4	3503	broad.mit.edu	37	14	106091239	106091239	+	RNA	SNP	C	C	T	rs57891506		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:106091239C>T	ENST00000390543.2	-	0	654																											CCACCTTTGGCTTTGGAGATG	0.617000													42	529					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													3	20					0	0	1	0	0
ZNF682	91120	broad.mit.edu	37	19	20133875	20133875	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:20133875C>T	ENST00000397165.2	-	3	324	c.164G>A	c.(163-165)cGt>cAt	p.R55H	ZNF682_ENST00000593468.1_Missense_Mutation_p.R55H|ZNF682_ENST00000358523.5_Missense_Mutation_p.R23H|ZNF682_ENST00000397162.1_Missense_Mutation_p.R23H|ZNF682_ENST00000597972.1_Missense_Mutation_p.R61H|ZNF682_ENST00000596019.1_Missense_Mutation_p.R55H|ZNF682_ENST00000595736.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTGCTCCAGACGGCTAATCAG	0.443000													26	92					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555359	45555359	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:45555359G>A	ENST00000347644.3	+	5	428	c.363G>A	c.(361-363)tcG>tcA	p.S121S	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	121					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TGGTTCACTCGTTTTTGAAAA	0.458000													8	68					0	0	1	0	0
SRPX	8406	broad.mit.edu	37	X	38013775	38013775	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:38013775G>A	ENST00000378533.3	-	9	1257	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000479015.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.P371L|SRPX_ENST00000432886.2_Missense_Mutation_p.P325L|SRPX_ENST00000544439.1_Missense_Mutation_p.P364L|SRPX_ENST00000538295.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	384					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						AATGAGAGTCGGGAACACACC	0.517000													3	11					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44913196	44913196	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:44913196G>A	ENST00000377967.4	+	10	912	c.871G>A	c.(871-873)Gga>Aga	p.G291R	KDM6A_ENST00000543216.1_Missense_Mutation_p.G291R|KDM6A_ENST00000382899.4_Missense_Mutation_p.G291R|KDM6A_ENST00000536777.1_Missense_Mutation_p.G291R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	291					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTATTTCCTCGGAAGGTGAGA	0.383000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								18	117					0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51429255	51429255	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:51429255T>A	ENST00000323686.4	+	1	525	c.425T>A	c.(424-426)cTc>cAc	p.L142H		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	142	RRM 1.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGACGTTGCTCATCAGCAGC	0.721000													39	80					0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149898676	149898676	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:149898676C>G	ENST00000445323.2	+	7	772	c.651C>G	c.(649-651)aaC>aaG	p.N217K	MTMR1_ENST00000544228.1_Missense_Mutation_p.N209K|MTMR1_ENST00000538506.1_Missense_Mutation_p.N96K|MTMR1_ENST00000542156.1_Missense_Mutation_p.N209K|MTMR1_ENST00000370390.3_Missense_Mutation_p.N209K|MTMR1_ENST00000541925.1_Missense_Mutation_p.N115K|MTMR1_ENST00000451863.2_Missense_Mutation_p.N209K			Q13613	MTMR1_HUMAN	myotubularin related protein 1	209						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTTCTAACGGACAGGTAA	0.363000													13	31					0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16336997	16336997	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:16336997A>G	ENST00000338560.7	+	13	2498	c.2099A>G	c.(2098-2100)gAg>gGg	p.E700G	TRPV2_ENST00000577397.1_Missense_Mutation_p.E270G	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	700					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGCCCCGATGAGCGCTGGTGC	0.627000													39	58					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103705000	103705000	+	Missense_Mutation	SNP	T	T	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr13:103705000T>G	ENST00000245312.3	-	3	1151	c.555A>C	c.(553-555)aaA>aaC	p.K185N		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	185					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTTGGGGCCATTTGTGATTAA	0.393000													6	55					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54081037	54081037	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:54081037C>T	ENST00000394705.2	-	2	1127	c.857G>A	c.(856-858)cGt>cAt	p.R286H	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	286						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTATATCCACGGGTCTGAAC	0.557000													3	41					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37872674	37872674	+	Missense_Mutation	SNP	G	G	A	rs150203173		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:37872674G>A	ENST00000406381.2	+	15	2054	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	ERBB2_ENST00000540147.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000540042.1_Missense_Mutation_p.R515Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R545Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R545Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.R530Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R269Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.R515Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	545					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GAGGAATGCCGAGTACTGCAG	0.672000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			5	15					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407711	50407711	+	Silent	SNP	T	T	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:50407711T>C	ENST00000217086.4	-	2	1422	c.1311A>G	c.(1309-1311)gcA>gcG	p.A437A	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	437					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGGGGGTTTGCCTTCACCT	0.562000													5	131					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789502	80789502	+	Nonsense_Mutation	SNP	C	C	A	rs35283702	byFrequency	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:80789502C>A	ENST00000269394.3	-	2	1662	c.829G>T	c.(829-831)Gga>Tga	p.G277*	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	277						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCTTGGGTTCCGTAGACTGAC	0.597000													51	95					1.21353e-23	1.28423e-23	1	1	0
PKN1	5585	broad.mit.edu	37	19	14578417	14578417	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:14578417C>T	ENST00000242783.6	+	13	1937	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	PKN1_ENST00000342216.4_Missense_Mutation_p.S597L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	591					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GAGCTGCCTTCGGAGACCCAG	0.652000													10	78					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711965	45711965	+	Splice_Site	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:45711965G>A	ENST00000310806.4	-	3	1115	c.658_splice	c.e3+1	p.Y219_splice		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	219					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATAGTTTACCGTAAGTTAAAT	0.343000													9	86					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857526	113857526	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:113857526C>T	ENST00000355556.2	+	7	1243	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	HTR3A_ENST00000504030.2_Intron|HTR3A_ENST00000506841.2_Missense_Mutation_p.A331V|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000375498.2_Intron|HTR3A_ENST00000299961.5_Intron	NM_213621.3	NP_998786.2	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	305					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GTGTCTCTTGCCTCTGCCCTG	0.587000													25	67					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32263325	32263325	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:32263325C>T	ENST00000382142.3	-	7	777	c.607G>A	c.(607-609)Gta>Ata	p.V203I	MTMR12_ENST00000264934.5_Missense_Mutation_p.V203I|MTMR12_ENST00000280285.5_Missense_Mutation_p.V203I	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	203						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCAAACATTACGGTATGGTTC	0.408000													4	97					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830922	13830922	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:13830922G>A	ENST00000284951.5	-	19	1936	c.1862C>T	c.(1861-1863)aCg>aTg	p.T621M	SEL1L2_ENST00000378072.5_Missense_Mutation_p.T508M|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	621						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATCTGGACTCGTTTGAGCAGC	0.448000													10	98					0	0	1	0	0
PDK1	5163	broad.mit.edu	37	2	173431653	173431653	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:173431653A>G	ENST00000410055.1	+	6	861	c.761A>G	c.(760-762)gAa>gGa	p.E254G	PDK1_ENST00000392571.2_Missense_Mutation_p.E274G|PDK1_ENST00000282077.2_Missense_Mutation_p.E254G|PDK1_ENST00000543905.1_Missense_Mutation_p.E178G|PDK1_ENST00000544863.1_Missense_Mutation_p.E99G	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	254	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			GAACTTGAAGAACTAAATGGT	0.313000									Autosomal Dominant Polycystic Kidney Disease				9	38					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150071393	150071393	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:150071393G>A	ENST00000199814.4	-	11	1304	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	RBM22_ENST00000540000.1_Missense_Mutation_p.R346W|RBM22_ENST00000447771.2_Missense_Mutation_p.R346W	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	395	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	p.R395W(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGAGCCCGCATGAAAGGA	0.537000													4	88					0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6381016	6381016	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:6381016G>A	ENST00000394456.5	-	11	1594	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	GTF2F1_ENST00000429701.2_Missense_Mutation_p.S292L	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	377					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCTCCCTCCCGACGGCTTCCG	0.672000													3	19					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19960653	19960653	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr22:19960653G>A	ENST00000263207.3	-	14	2718	c.2427C>T	c.(2425-2427)ctC>ctT	p.L809L	ARVCF_ENST00000406522.1_Silent_p.L740L|ARVCF_ENST00000406259.1_Silent_p.L803L|ARVCF_ENST00000401994.1_Silent_p.L746L|ARVCF_ENST00000344269.3_Silent_p.L746L	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	809					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGGAGGCCACGAGAGCCACCA	0.711000													4	13					0	0	1	0	0
METRNL	284207	broad.mit.edu	37	17	81052168	81052168	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:81052168G>A	ENST00000571814.1	+	3	1479	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	METRNL_ENST00000570778.1_Missense_Mutation_p.V180M|METRNL_ENST00000571940.1_3'UTR|METRNL_ENST00000320095.7_Missense_Mutation_p.V262M			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	262						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GGAGTGTGGCGTGCGGCCGGG	0.662000													6	57					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													4	29					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559775	140559775	+	Silent	SNP	G	G	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:140559775G>T	ENST00000239444.2	+	1	2405	c.2160G>T	c.(2158-2160)gcG>gcT	p.A720A		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		720					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCAGGGCGGCCTCGGTGG	0.642000													28	145					1.17739e-12	1.234e-12	1	1	0
DDX11	1663	broad.mit.edu	37	12	31249813	31249813	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:31249813G>A	ENST00000407793.2	+	17	1902	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.E551K|DDX11_ENST00000228264.6_Missense_Mutation_p.E525K|DDX11_ENST00000542838.1_Missense_Mutation_p.E551K|DDX11_ENST00000545668.1_Missense_Mutation_p.E551K|DDX11_ENST00000539673.1_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	551					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCTGCAGACGAGAGTCAGGC	0.617000										Multiple Myeloma(12;0.14)			7	34					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378033	138378033	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr9:138378033G>A	ENST00000356818.2	+	4	2226	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	PPP1R26_ENST00000605660.1_Silent_p.P559P|PPP1R26_ENST00000605286.1_Silent_p.P559P|PPP1R26_ENST00000604351.1_Silent_p.P559P|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.P559P	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	559						nucleolus	protein binding										AGAGCTGCCCGCAGGCTGCCC	0.617000													5	276					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452940	123452940	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:123452940C>T	ENST00000360772.3	-	11	1281	c.903G>A	c.(901-903)caG>caA	p.Q301Q	MYLK_ENST00000475616.1_Silent_p.Q301Q|MYLK_ENST00000360304.3_Silent_p.Q301Q|MYLK_ENST00000359169.1_Silent_p.Q301Q|MYLK_ENST00000346322.5_Silent_p.Q301Q			Q15746	MYLK_HUMAN	myosin light chain kinase	301					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCCACCTCTCTGGGGGCTGG	0.587000													9	78					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	35					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88986993	88986993	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:88986993G>A	ENST00000237596.2	+	12	2386	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Missense_Mutation_p.E192K|PKD2_ENST00000502363.1_Missense_Mutation_p.E192K	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	774	EF-hand domain.|EF-hand.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GACCGAACATGAACATCAGCA	0.448000													12	66					0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56961070	56961070	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:56961070C>T	ENST00000559237.1	-	13	2140	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	ZNF280D_ENST00000267807.7_Missense_Mutation_p.R499Q|ZNF280D_ENST00000396245.1_Missense_Mutation_p.R203Q|ZNF280D_ENST00000559000.1_Missense_Mutation_p.R486Q	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TATAAATGTTCGATGGTGTTG	0.299000													11	51					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891249	18891249	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:18891249G>A	ENST00000317658.3	+	1	205	c.47G>A	c.(46-48)cGc>cAc	p.R16H		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	16					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGAGTAATTCGCAGACTGTTA	0.443000													8	96					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053760	95053760	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:95053760C>T	ENST00000329597.7	+	3	271	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	SERPINA5_ENST00000553780.1_Missense_Mutation_p.R21C|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R21C|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R21C	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	21					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTCCCTTCACCGCCACCACCC	0.582000													11	94					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	53					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40776906	40776906	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:40776906C>T	ENST00000381782.2	+	6	1259	c.764C>T	c.(763-765)tCt>tTt	p.S255F	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Missense_Mutation_p.S255F	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATTTTTCCATCTCATCTTAAA	0.269000													4	28					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	603652	603652	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr19:603652C>G	ENST00000251287.2	+	2	794	c.741C>G	c.(739-741)ttC>ttG	p.F247L		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	247					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATCGTGTTCAACGTGGTCT	0.552000													21	43					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31386317	31386317	+	Silent	SNP	C	C	T	rs140714949		TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:31386317C>T	ENST00000328111.2	+	15	1863	c.1542C>T	c.(1540-1542)gcC>gcT	p.A514A	DNMT3B_ENST00000353855.2_Silent_p.A494A|DNMT3B_ENST00000443239.3_Silent_p.A452A|DNMT3B_ENST00000344505.4_Silent_p.A494A|DNMT3B_ENST00000201963.3_Silent_p.A506A|DNMT3B_ENST00000456297.2_Silent_p.A418A|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Silent_p.A494A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	514	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCACAGCGGCCGAGGCCAAGC	0.647000													4	54					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453794	37453794	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr13:37453794G>A	ENST00000379826.4	-	2	375	c.33C>T	c.(31-33)ttC>ttT	p.F11F	SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000350148.5_Silent_p.F11F|SMAD9_ENST00000399275.2_Silent_p.F11F	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	11					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TGGTGAAGGAGAAGAGGGAGC	0.602000													8	66					0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87516189	87516189	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr7:87516189G>A	ENST00000265728.1	+	4	934	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	144					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATTATTAGTTGAAAAAGCTAT	0.294000													11	85					0	0	1	0	0
MPP5	64398	broad.mit.edu	37	14	67787835	67787835	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr14:67787835G>A	ENST00000261681.4	+	13	2260	c.1599G>A	c.(1597-1599)cgG>cgA	p.R533R	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Silent_p.R499R	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	533	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	p.R533R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTGTTTCGCGGCAAGCATTCG	0.443000													4	96					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													5	29					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471226	128471226	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr2:128471226C>T	ENST00000322313.4	-	18	3397	c.3239G>A	c.(3238-3240)cGc>cAc	p.R1080H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1080					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCGGGCCTGCGGCCTTCCCA	0.662000													27	185					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981904	61981904	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:61981904C>T	ENST00000370263.4	-	5	1080	c.859G>A	c.(859-861)Gtc>Atc	p.V287I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	287					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	AGCAGGAAGACGGTGAGCGAC	0.592000													13	117					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6954816	6954816	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr12:6954816C>T	ENST00000229264.3	+	10	1171	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Missense_Mutation_p.R255W	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	256					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GTTTGACCTGCGGGCAGACCA	0.612000													4	139					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68153810	68153810	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr11:68153810C>T	ENST00000294304.7	+	6	1148	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	348	Beta-propeller 2.		R -> W (in OPPG).		adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGCTGGCCCGGCGGACGGA	0.662000													4	67					0	0	1	0	0
MXD4	10608	broad.mit.edu	37	4	2252912	2252912	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:2252912C>T	ENST00000337190.2	-	5	684	c.371G>A	c.(370-372)cGt>cAt	p.R124H		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	124					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CTTCAGGAAACGATGCTCCTG	0.647000													4	13					0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23029299	23029299	+	Silent	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr20:23029299G>A	ENST00000377103.2	-	1	1079	c.843C>T	c.(841-843)acC>acT	p.T281T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	281	EGF-like 1.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	TCGCGGATGCGGTGCAGGAGC	0.706000													3	17					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794517	30794517	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr16:30794517C>G	ENST00000262525.4	-	3	1339	c.1132G>C	c.(1132-1134)Gtg>Ctg	p.V378L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TTGCCGCACACTGGGCACTTG	0.657000													5	35					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123652	47123652	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr17:47123652G>A	ENST00000290341.3	+	14	1892	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E381K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	520	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACGGCAGCTGAGGTGGTAGT	0.552000													13	60					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72400023	72400023	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr4:72400023C>T	ENST00000340595.3	+	15	2424	c.2228C>T	c.(2227-2229)cCg>cTg	p.P743L	SLC4A4_ENST00000351898.6_Missense_Mutation_p.P787L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P787L|SLC4A4_ENST00000264485.5_Missense_Mutation_p.P787L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	787						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.P787Q(1)|p.P743Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GCTGCTATCCCGGCTTTGTTG	0.433000													6	32					0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790546	57790546	+	Silent	SNP	C	C	T			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:57790546C>T	ENST00000396776.2	+	3	645	c.183C>T	c.(181-183)ttC>ttT	p.F61F	GAPT_ENST00000318469.2_Silent_p.F61F	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	61					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CTAAAACATTCTTGGGCCCCC	0.453000													5	43					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)del	p.Q570del	TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													7	149	---	---	---	---					
PRR7-AS1	340037	broad.mit.edu	37	5	176872641	176872641	+	RNA	DEL	A	A	-			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr5:176872641delA	ENST00000425316.3	-	0	56					NR_038915.1																						agagtgatgcaaacagaagca	0.532													2	4	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			8	111	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													2	4	---	---	---	---					
FBXL19	54620	broad.mit.edu	37	16	30939203	30939204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr16:30939203_30939204insC	ENST00000338343.4	+	5	933_934	c.546_547insC	c.(544-549)ggccccfs	p.GP182fs	FBXL19_ENST00000562319.1_Frame_Shift_Ins_p.GP182fs|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000380310.2_Frame_Shift_Ins_p.GP202fs			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	202							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGCCTGCCGGGCCCCCCCCGGA	0.708													2	4	---	---	---	---					
SCARF2	91179	broad.mit.edu	37	22	20791940	20791941	+	In_Frame_Ins	INS	-	-	AGC			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chr22:20791940_20791941insAGC	ENST00000405555.3	-	1	171_172	c.101_102insGCT	c.(100-102)ctg>cGCTtg	p.33_34insR	SCARF2_ENST00000266214.5_In_Frame_Ins_p.33_34insR	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	33					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGCATCCAGagcagcagcag	0.782													6	4	---	---	---	---					
CAPN6	827	broad.mit.edu	37	X	110494259	110494259	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MT-A67G-01A-11D-A30E-08	TCGA-MT-A67G-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15693d5-e909-45da-a5b8-42f1788fe773	93a16f0f-c162-439b-8ed8-e6bbed028d65	g.chrX:110494259delA	ENST00000324068.1	-	8	1211	c.1044delT	c.(1042-1044)ttfs	p.F348fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	348	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTTCGGCCAAAAATAGGGT	0.488													7	629	---	---	---	---