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
OR10V1	390201	broad.mit.edu	37	11	59480480	59480480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:59480480G>T	ENST00000307552.2	-	1	857	c.839C>A	c.(838-840)aCa>aAa	p.T280K		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AGTGATAAATGTGTAGGCCAC	0.458000													39	99					4.17593e-13	5.76997e-13	1	1	0
ZNFX1	57169	broad.mit.edu	37	20	47881281	47881281	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:47881281G>A	ENST00000396105.1	-	5	2369	c.2123C>T	c.(2122-2124)cCc>cTc	p.P708L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.P708L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.P708L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	708							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGGTGCATGGGGAGGTTGCG	0.537000													52	50					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691904	31691904	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr21:31691904G>A	ENST00000360542.3	-	1	703	c.450C>T	c.(448-450)tcC>tcT	p.S150S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	150						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGCAACTCTTGGACAAGCAGA	0.557000													36	102					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46807546	46807546	+	Silent	SNP	G	G	A	rs150880121		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr22:46807546G>A	ENST00000262738.3	-	6	4721	c.4722C>T	c.(4720-4722)atC>atT	p.I1574I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1574	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTAGTTCCCGATGTCCTTTC	0.627000													27	53					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67473606	67473606	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr15:67473606C>T	ENST00000327367.4	+	6	996	c.686C>T	c.(685-687)cCg>cTg	p.P229L	SMAD3_ENST00000537194.2_Missense_Mutation_p.P34L|SMAD3_ENST00000439724.3_Missense_Mutation_p.P185L|SMAD3_ENST00000540846.2_Missense_Mutation_p.P124L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	229	Linker.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TACTGCGAGCCGGCCTTCTGG	0.617000													7	15					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1471064	1471064	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:1471064C>T	ENST00000308219.9	+	13	1671	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	BRSK2_ENST00000531197.1_Missense_Mutation_p.R429W|BRSK2_ENST00000528841.1_Missense_Mutation_p.R429W|BRSK2_ENST00000308230.5_Missense_Mutation_p.R451W|BRSK2_ENST00000528710.1_Missense_Mutation_p.R369W|BRSK2_ENST00000544817.1_Missense_Mutation_p.R124W|BRSK2_ENST00000526678.1_Missense_Mutation_p.R451W|BRSK2_ENST00000382179.1_Missense_Mutation_p.R475W	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	429	Pro-rich.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CAGCAGCCCCCGGGTGAGTGA	0.706000													6	58					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97141463	97141463	+	Silent	SNP	G	G	A	rs146669035		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:97141463G>A	ENST00000371247.2	-	18	1821	c.1632C>T	c.(1630-1632)tcC>tcT	p.S544S	SORBS1_ENST00000354106.3_Silent_p.S514S|SORBS1_ENST00000371249.2_Silent_p.S466S|SORBS1_ENST00000393949.1_Silent_p.S514S|SORBS1_ENST00000306402.6_Silent_p.S375S|SORBS1_ENST00000277982.5_Silent_p.S566S|SORBS1_ENST00000371246.2_Silent_p.S566S|SORBS1_ENST00000371239.1_Silent_p.S343S|SORBS1_ENST00000353505.5_Silent_p.S429S|SORBS1_ENST00000361941.3_Silent_p.S544S|SORBS1_ENST00000607232.1_Silent_p.S333S|SORBS1_ENST00000371241.1_Silent_p.S334S|SORBS1_ENST00000347291.4_Silent_p.S412S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371227.4_Silent_p.S498S|SORBS1_ENST00000371245.3_Silent_p.S429S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	544					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TGGTCAGAACGGAAGACTTGC	0.413000													12	49					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59270241	59270241	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:59270241T>A	ENST00000320743.3	-	16	2967	c.2681A>T	c.(2680-2682)cAa>cTa	p.Q894L	LRIG3_ENST00000379141.4_Missense_Mutation_p.Q834L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	894						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACTGTCATGTTGTGGTAAGAA	0.423000			T	ROS1	NSCLC								15	26					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132539	91132539	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:91132539A>T	ENST00000373094.1	+	2	2145	c.1300A>T	c.(1300-1302)Att>Ttt	p.I434F	PCDH11X_ENST00000504220.1_Missense_Mutation_p.I434F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.I434F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.I434F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I434F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.I434F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.I434F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.I434F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.I434F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	434	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGAATATGCCATTAAATTACT	0.403000													26	67					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29041041	29041041	+	Splice_Site	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr13:29041041A>T	ENST00000282397.4	-	3	638	c.388_splice	c.e3+1	p.S129_splice	FLT1_ENST00000541932.1_Splice_Site_p.S129_splice|FLT1_ENST00000539099.1_Splice_Site_p.S129_splice	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	129					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AAGTCTTACCACTAATAAATA	0.378000													10	18					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442321	89442321	+	RNA	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:89442321T>A	ENST00000492167.1	-	0	135																											ACAGGGTGCCTGGAGACTGCG	0.493000													38	63					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242157	3242157	+	Silent	SNP	C	C	A	rs144210017		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:3242157C>A	ENST00000217939.6	-	5	1723	c.1569G>T	c.(1567-1569)gcG>gcT	p.A523A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	523	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATCCATGGGCGCTTTCAGGA	0.542000													19	66					4.35082e-09	5.56298e-09	1	1	0
PRKACA	5566	broad.mit.edu	37	19	14208609	14208609	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:14208609C>T	ENST00000308677.4	-	6	709	c.513G>A	c.(511-513)gaG>gaA	p.E171E	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.E163E|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	171	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TGAGCAGATTCTCCGGCTTCA	0.622000													10	56					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133197926	133197926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:133197926G>T	ENST00000389110.3	+	9	1028	c.991G>T	c.(991-993)Gga>Tga	p.G331*	P2RX2_ENST00000348800.5_Nonsense_Mutation_p.G331*|P2RX2_ENST00000449132.2_Nonsense_Mutation_p.G297*|P2RX2_ENST00000343948.4_Nonsense_Mutation_p.G331*|P2RX2_ENST00000350048.5_Nonsense_Mutation_p.G307*|P2RX2_ENST00000351222.4_Nonsense_Mutation_p.G239*|P2RX2_ENST00000352418.4_Nonsense_Mutation_p.G259*	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	331	Pore-forming motif (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CATTGTGCATGGACAGGTGCC	0.612000													68	88					6.25564e-26	1.02401e-25	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37027680	37027680	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:37027680G>T	ENST00000358047.3	+	1	1249	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	399										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAATGGAGTGTCTCCTCTCT	0.617000													33	63					3.11337e-16	4.61174e-16	1	1	0
ERP44	23071	broad.mit.edu	37	9	102861099	102861099	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:102861099G>A	ENST00000262455.6	-	1	223	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	8					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						GGTCGGGTAAGGATAGGAAGA	0.627000													19	31					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219894182	219894182	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:219894182G>T	ENST00000341552.5	-	11	1676	c.1593C>A	c.(1591-1593)ttC>ttA	p.F531L	CCDC108_ENST00000453220.1_Missense_Mutation_p.F531L|CCDC108_ENST00000409865.3_Missense_Mutation_p.F520L|CCDC108_ENST00000410037.1_Missense_Mutation_p.F466L|CCDC108_ENST00000441968.1_Missense_Mutation_p.F531L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	531						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTGGGCTGGAAGGCACAGT	0.612000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	27					1.58986e-06	1.85725e-06	1	1	0
TPP2	7174	broad.mit.edu	37	13	103249523	103249523	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr13:103249523G>A	ENST00000376052.3	+	1	151	c.135G>A	c.(133-135)acG>acA	p.T45T	TPP2_ENST00000376065.4_Silent_p.T45T			P29144	TPP2_HUMAN	tripeptidyl peptidase II	45					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTGGACACGGGGGTCGACC	0.746000													6	6					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125104	104125104	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:104125104T>C	ENST00000259407.2	-	4	971	c.863A>G	c.(862-864)aAt>aGt	p.N288S	BAAT_ENST00000395051.3_Missense_Mutation_p.N288S	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	288					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CCCCAAGGCATTGGTGGATAT	0.453000													10	82					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138264217	138264217	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:138264217A>G	ENST00000343526.4	+	15	2740	c.2525A>G	c.(2524-2526)gAa>gGa	p.E842G	TRIM24_ENST00000415680.2_Missense_Mutation_p.E808G			O15164	TIF1A_HUMAN	tripartite motif containing 24	842					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CTCTGCTGTGAAAAGTGCCCC	0.443000													16	39					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20487070	20487070	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:20487070G>C	ENST00000573854.1	+	8	1187	c.1073G>C	c.(1072-1074)cGa>cCa	p.R358P	ACSM2A_ENST00000575690.1_Missense_Mutation_p.R358P|ACSM2A_ENST00000417235.2_Missense_Mutation_p.R279P|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R358P|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R358P|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R130P	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	358					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CTGGACATCCGAGAATCCTAT	0.493000													28	148					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117059688	117059688	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:117059688G>C	ENST00000355044.3	+	16	2686	c.2560G>C	c.(2560-2562)Gca>Cca	p.A854P		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	854	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGAAAGGGCTGCAGTGGCAGG	0.438000													22	33					0	0	1	0	0
YIF1A	10897	broad.mit.edu	37	11	66052152	66052152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:66052152G>A	ENST00000376901.4	-	8	1022	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000471387.2_3'UTR|YIF1A_ENST00000359461.6_Nonsense_Mutation_p.Q228*|YIF1A_ENST00000496746.1_Nonsense_Mutation_p.Q66*|CNIH2_ENST00000530519.1_Intron	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	280					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						ATGAGGGGCTGGAAGGCTGCA	0.607000													3	19					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6924745	6924745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:6924745C>A	ENST00000312053.4	+	15	1885	c.1848C>A	c.(1846-1848)tgC>tgA	p.C616*	EMR1_ENST00000381407.5_Nonsense_Mutation_p.C475*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.C439*|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Nonsense_Mutation_p.C564*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	616					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCTTGGTGTGCCTCGTCTTGG	0.502000													19	36					7.07596e-05	7.87239e-05	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79454426	79454426	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr14:79454426G>T	ENST00000554719.1	+	12	2576	c.2085G>T	c.(2083-2085)tgG>tgT	p.W695C	NRXN3_ENST00000335750.5_Missense_Mutation_p.W695C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGCAACAATGGGAGGGCTTCA	0.448000													31	36					3.1745e-13	4.40998e-13	1	1	0
VPS35	55737	broad.mit.edu	37	16	46715332	46715332	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:46715332G>A	ENST00000299138.7	-	4	338	c.280C>T	c.(280-282)Ctc>Ttc	p.L94F		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	94					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGTTCGTAGAGATCTGCCACT	0.373000													13	89					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57095586	57095586	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:57095586G>T	ENST00000436936.1	+	32	4352	c.4127G>T	c.(4126-4128)gGg>gTg	p.G1376V	NLRC5_ENST00000539144.1_Missense_Mutation_p.G1347V|NLRC5_ENST00000308149.7_Missense_Mutation_p.G1347V|NLRC5_ENST00000262510.6_Missense_Mutation_p.G1376V			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1376					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGCTTGGTGGGGCGACCCGCA	0.667000													21	32					1.00905e-13	1.42879e-13	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1260950	1260950	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:1260950T>A	ENST00000348261.5	+	21	4450	c.4202T>A	c.(4201-4203)cTg>cAg	p.L1401Q	CACNA1H_ENST00000358590.4_Missense_Mutation_p.L1401Q|CACNA1H_ENST00000565831.1_Missense_Mutation_p.L1401Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1401					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGCGTCTGCTGCGGACCCTG	0.687000													8	75					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212228	149212228	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:149212228A>T	ENST00000309241.5	+	5	624	c.592A>T	c.(592-594)Acc>Tcc	p.T198S	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.T159S|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.T198S|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.T134S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	198					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCGGACAGCACCCAAGACAA	0.577000													40	129					0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35284930	35284930	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:35284930C>T	ENST00000373803.2	-	14	920	c.864G>A	c.(862-864)gcG>gcA	p.A288A	NDRG3_ENST00000540765.1_Silent_p.A184A|NDRG3_ENST00000373773.3_Silent_p.A193A|NDRG3_ENST00000359675.2_Silent_p.A276A|NDRG3_ENST00000349004.1_Silent_p.A288A			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	288					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CCCCACAGTCCGCCATCTAGA	0.408000													12	52					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160105251	160105251	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:160105251G>T	ENST00000361216.3	+	16	2232	c.2143G>T	c.(2143-2145)Ggg>Tgg	p.G715W	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G715W|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	715			G -> R (in FHM2; de novo mutation in a sporadic case).		ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GACGGGTGACGGGGTGAACGA	0.597000													34	41					9.78485e-24	1.57662e-23	1	1	0
MYH2	4620	broad.mit.edu	37	17	10438682	10438682	+	Splice_Site	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:10438682C>A	ENST00000245503.5	-	18	2359	c.1974_splice	c.e18-1	p.E659_splice	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site_p.E659_splice|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	659	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCAAATTCTCCTGTAAAACC	0.398000													12	20					6.40141e-05	7.13736e-05	1	1	0
HKDC1	80201	broad.mit.edu	37	10	70992644	70992644	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:70992644A>T	ENST00000354624.5	+	3	484	c.351A>T	c.(349-351)gaA>gaT	p.E117D	HKDC1_ENST00000395086.2_Missense_Mutation_p.E117D	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	117					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGCCCAATGAAATCATCCGCG	0.592000													12	135					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79918908	79918908	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr13:79918908G>C	ENST00000438737.2	-	15	2520	c.2080C>G	c.(2080-2082)Cta>Gta	p.L694V	RBM26_ENST00000438724.1_Missense_Mutation_p.L670V|RBM26_ENST00000267229.7_Missense_Mutation_p.L667V			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	694					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTTTTTGTTAGGCCAGTAGAT	0.333000													18	19					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67049757	67049757	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:67049757C>T	ENST00000308595.5	+	12	1263	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	ADRBK1_ENST00000526285.1_Silent_p.L325L|ADRBK1_ENST00000527176.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	325	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CAACATCCTTCTGGACGAGCA	0.637000													11	66					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480144	73480144	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:73480144A>T	ENST00000523207.1	+	2	763	c.175A>T	c.(175-177)Acg>Tcg	p.T59S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCTGCCCAGGACGCGCCTGGG	0.542000													32	71					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226186992	226186992	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:226186992C>G	ENST00000272091.7	-	1	40	c.22G>C	c.(22-24)Gtg>Ctg	p.V8L	SDE2_ENST00000366817.1_5'UTR	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		CGAATCCACACCAGCGCCGCG	0.672000													12	40					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19973541	19973541	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:19973541T>A	ENST00000379687.3	-	4	1451	c.1418A>T	c.(1417-1419)cAg>cTg	p.Q473L	CXorf23_ENST00000356980.3_Missense_Mutation_p.Q473L|CXorf23_ENST00000379682.4_Missense_Mutation_p.Q473L	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	473						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TATGATTTCCTGAGCAAATTC	0.353000													17	46					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77894066	77894066	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr18:77894066G>A	ENST00000262198.4	+	4	1225	c.770G>A	c.(769-771)aGg>aAg	p.R257K		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	257					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CATATTAAGAGGACTGGACTC	0.473000													24	29					0	0	1	0	0
AAED1	195827	broad.mit.edu	37	9	99408297	99408297	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:99408297G>A	ENST00000375234.3	-	5	430	c.431C>T	c.(430-432)cCc>cTc	p.P144L	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	144							antioxidant activity|oxidoreductase activity										TTTTATGTGGGGGCTCTGTCC	0.398000													18	42					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169227605	169227605	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:169227605C>A	ENST00000393743.3	-	5	822	c.531G>T	c.(529-531)ggG>ggT	p.G177G		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	177							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAGATTCTTGCCCTGAGGAAA	0.398000													5	39					1.23904e-05	1.409e-05	1	1	0
RGS7	6000	broad.mit.edu	37	1	240975258	240975258	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:240975258G>T	ENST00000366565.1	-	14	1423	c.1042C>A	c.(1042-1044)Ctt>Att	p.L348I	RGS7_ENST00000331110.7_Missense_Mutation_p.L322I|RGS7_ENST00000366564.1_Missense_Mutation_p.L348I|RGS7_ENST00000366563.1_Missense_Mutation_p.L348I|RGS7_ENST00000446183.2_Missense_Mutation_p.L264I|RGS7_ENST00000401882.1_Missense_Mutation_p.L295I|RGS7_ENST00000348120.2_Missense_Mutation_p.L295I|RGS7_ENST00000366562.4_Missense_Mutation_p.L348I|RGS7_ENST00000407727.1_Missense_Mutation_p.L348I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	348	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGAAATTTAAGGAACTGTTCT	0.413000													17	81					3.45872e-05	3.90721e-05	1	1	0
PRSS58	136541	broad.mit.edu	37	7	141955096	141955096	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:141955096G>T	ENST00000552471.1	-	3	534	c.215C>A	c.(214-216)gCa>gAa	p.A72E	PRSS58_ENST00000547058.2_Missense_Mutation_p.A72E			Q8IYP2	PRS58_HUMAN	protease, serine, 58	72	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						ATTAGAGTCTGCTGGGATTGT	0.413000													41	70					1.59932e-28	2.66036e-28	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138400103	138400103	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:138400103A>T	ENST00000409968.1	+	21	4023	c.3845A>T	c.(3844-3846)gAa>gTa	p.E1282V	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1285V|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1254V					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACCCAAGGAGAAGGACGGCCA	0.517000													22	97					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18490289	18490289	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:18490289G>T	ENST00000440756.2	-	11	2352	c.2250C>A	c.(2248-2250)ccC>ccA	p.P750P	PSD3_ENST00000327040.8_Silent_p.P748P|PSD3_ENST00000428502.2_Silent_p.P77P|PSD3_ENST00000286485.8_Silent_p.P214P|PSD3_ENST00000523619.1_Silent_p.P683P			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	749					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TACTTTCTGAGGGAGACTTTT	0.373000													6	22					0.217242	0.217242	1	1	0
SPIN2B	474343	broad.mit.edu	37	X	57146618	57146618	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:57146618C>A	ENST00000333933.3	-	2	755	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W	SPIN2B_ENST00000374912.5_Missense_Mutation_p.G149W|SPIN2B_ENST00000460948.1_Intron|SPIN2B_ENST00000275988.5_Missense_Mutation_p.G149W|SPIN2B_ENST00000374910.3_Intron	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	149					apoptosis|cell cycle|gamete generation	nucleus				endometrium(3)|large_intestine(1)|skin(1)	5						AAGACCATCCCCCTCCATTCA	0.403000													40	67					1.86277e-20	2.90141e-20	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75055477	75055477	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:75055477C>T	ENST00000326665.5	-	12	2232	c.2014G>A	c.(2014-2016)Gga>Aga	p.G672R	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.G475R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	672	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCTCCGTTCCTTCTTTAAGA	0.398000													13	109					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057837	56057837	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:56057837C>A	ENST00000313022.2	-	1	729	c.702G>T	c.(700-702)caG>caT	p.Q234H		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ACAAAGCTTTCTGCTTTCCTG	0.388000													21	77					1.28384e-07	1.55269e-07	1	1	0
PCDHAC1	56135	broad.mit.edu	37	5	140307165	140307165	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:140307165G>T	ENST00000253807.2	+	1	688	c.688G>T	c.(688-690)Gcg>Tcg	p.A230S	PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A230S|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGACAACGCGCCTGTATT	0.572000													20	18					2.39556e-15	3.47831e-15	1	1	0
PRKCA	5578	broad.mit.edu	37	17	64731701	64731701	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:64731701C>T	ENST00000413366.3	+	10	1177	c.1151C>T	c.(1150-1152)aCc>aTc	p.T384I		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	384	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GTGGAGTGCACCATGGTAGAA	0.522000													38	120					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37545270	37545270	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:37545270C>A	ENST00000378616.3	+	1	259	c.56C>A	c.(55-57)aCg>aAg	p.T19K	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	19					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GCCGAGACAACGGCGGCGCTC	0.692000													5	15					0.184627	0.184987	1	1	0
GRN	2896	broad.mit.edu	37	17	42429563	42429563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:42429563C>T	ENST00000053867.3	+	11	1422	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	GRN_ENST00000589265.1_Nonsense_Mutation_p.Q297*	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	454				Q -> G (in Ref. 3; AAA58617).	signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCCGGTGGGGCAGACCTGCTG	0.672000													35	55					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28225785	28225785	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:28225785C>T	ENST00000305242.5	-	15	2214	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	ARMC4_ENST00000537576.1_Missense_Mutation_p.D400N|ARMC4_ENST00000545014.1_Missense_Mutation_p.D233N	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	708							binding	p.D708Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTAACGAGGTCCCGGGTTTCC	0.478000													24	100					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20051617	20051617	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:20051617T>A	ENST00000245957.5	+	3	339	c.263T>A	c.(262-264)tTc>tAc	p.F88Y	C20orf26_ENST00000377306.1_Missense_Mutation_p.F88Y|C20orf26_ENST00000451767.2_Missense_Mutation_p.F88Y|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	88										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTGTCAGTGTTCCGGGAGCTC	0.507000													6	71					0	0	1	0	0
TECR	9524	broad.mit.edu	37	19	14674876	14674876	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:14674876A>G	ENST00000436007.2	+	7	519	c.395A>G	c.(394-396)tAt>tGt	p.Y132C	TECR_ENST00000215567.5_Missense_Mutation_p.Y117C|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	117					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						GGCCACAAATATGACTTTACG	0.577000													46	143					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55522862	55522862	+	Missense_Mutation	SNP	C	C	A	rs138449414		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:55522862C>A	ENST00000436346.1	-	31	6263	c.5422G>T	c.(5422-5424)Gtg>Ttg	p.V1808L	CCDC88A_ENST00000413716.2_Splice_Site_p.V1733_splice|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V1807L|CCDC88A_ENST00000263630.8_Missense_Mutation_p.V1780L|CCDC88A_ENST00000422883.2_Missense_Mutation_p.V309L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1808					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTGAGATCACGCTGCTTGCA	0.423000													42	49					1.47197e-15	2.16169e-15	1	1	0
FOXR2	139628	broad.mit.edu	37	X	55650851	55650851	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:55650851G>T	ENST00000339140.3	+	1	1019	c.707G>T	c.(706-708)tGg>tTg	p.W236L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	236					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCGGATGGCTGGAAGAGCACC	0.498000													36	76					2.09667e-21	3.28563e-21	1	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955899	18955899	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:18955899G>A	ENST00000302797.3	-	1	657	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	145					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCCAGAGCAGGACACACACC	0.597000													32	138					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54160418	54160418	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:54160418A>G	ENST00000375180.2	-	8	1734	c.1678T>C	c.(1678-1680)Tcc>Ccc	p.S560P	FAM120C_ENST00000328235.4_Missense_Mutation_p.S560P	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	560										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGTGCCCAGGACCCTCTGTCA	0.478000													6	43					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658938	55658938	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:55658938C>A	ENST00000449290.2	+	7	1281	c.1189C>A	c.(1189-1191)Ctt>Att	p.L397I	TRIM51_ENST00000244891.3_Missense_Mutation_p.L254I	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	397	B30.2/SPRY.					intracellular	zinc ion binding										CACCTCCCCACTTGTGGTGCA	0.453000													14	64					3.51602e-12	4.75587e-12	1	1	0
DCLRE1C	64421	broad.mit.edu	37	10	14974898	14974898	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:14974898G>A	ENST00000453695.2	-	9	819	c.375C>T	c.(373-375)ctC>ctT	p.L125L	DCLRE1C_ENST00000378289.4_Silent_p.L245L|DCLRE1C_ENST00000378255.1_Silent_p.L125L|DCLRE1C_ENST00000378246.2_Silent_p.L130L|DCLRE1C_ENST00000378258.1_Silent_p.L125L|DCLRE1C_ENST00000378278.2_Silent_p.L245L|DCLRE1C_ENST00000396817.2_Silent_p.L125L|DCLRE1C_ENST00000378254.1_Silent_p.L125L|DCLRE1C_ENST00000378249.1_Silent_p.L130L|DCLRE1C_ENST00000357717.2_Silent_p.L130L	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	245					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGTCTGTTGTGAGATGATGAA	0.393000								Non-homologous end-joining					7	87					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216202	149216202	+	Silent	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:149216202T>C	ENST00000309241.5	+	8	2216	c.2184T>C	c.(2182-2184)ccT>ccC	p.P728P	PPARGC1B_ENST00000360453.4_Silent_p.P689P|PPARGC1B_ENST00000394320.3_Silent_p.P728P|PPARGC1B_ENST00000403750.1_Silent_p.P664P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	728					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGGGTGCCCCTTGGGCTGAGG	0.652000													33	51					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64738296	64738296	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:64738296G>C	ENST00000374811.3	-	12	1538	c.1498C>G	c.(1498-1500)Ctg>Gtg	p.L500V	LAS1L_ENST00000374804.5_Missense_Mutation_p.L441V|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.L483V	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	500						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ATGCGCAGCAGCTTCTCCTGC	0.537000													19	50					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013938	149013938	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:149013938G>T	ENST00000535454.1	+	4	1441	c.892G>T	c.(892-894)Gca>Tca	p.A298S	MAGEA8_ENST00000542674.1_Missense_Mutation_p.A298S|MAGEA8_ENST00000286482.1_Missense_Mutation_p.A298S	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	298	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGTCAATGCAAGAGTTCG	0.567000													65	82					5.45122e-27	8.98054e-27	1	1	0
KMT2A	4297	broad.mit.edu	37	11	118344255	118344255	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:118344255C>T	ENST00000534358.1	+	3	2404	c.2381C>T	c.(2380-2382)cCa>cTa	p.P794L	KMT2A_ENST00000354520.4_Missense_Mutation_p.P794L|KMT2A_ENST00000389506.5_Missense_Mutation_p.P794L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GCCTTAAACCCAACTTTTACT	0.483000													21	116					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41063278	41063278	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:41063278C>T	ENST00000253801.2	+	5	988	c.909C>T	c.(907-909)ctC>ctT	p.L303L	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	303					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TAGCCTCCCTCGTCCTCCTGC	0.577000													29	151					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9365009	9365009	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:9365009G>T	ENST00000378501.2	+	11	1030	c.1015G>T	c.(1015-1017)Ggg>Tgg	p.G339W	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.G339W|PLCB4_ENST00000278655.4_Missense_Mutation_p.G339W|PLCB4_ENST00000414679.2_Missense_Mutation_p.G339W|PLCB4_ENST00000378493.1_Missense_Mutation_p.G339W|PLCB4_ENST00000378473.3_Missense_Mutation_p.G339W	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	339	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACAGTTCGGCGGGAAGTCTTC	0.458000													24	70					1.64293e-13	2.31361e-13	1	1	0
RYR2	6262	broad.mit.edu	37	1	237870340	237870340	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:237870340C>A	ENST00000366574.2	+	68	9989	c.9672C>A	c.(9670-9672)tcC>tcA	p.S3224S	RYR2_ENST00000542537.1_Silent_p.S3208S|RYR2_ENST00000360064.6_Silent_p.S3222S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3224					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGCCGAGTCCGGCATTCGCT	0.473000													20	93					2.94398e-08	3.64628e-08	1	1	0
MSLNL	401827	broad.mit.edu	37	16	830216	830216	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:830216G>A	ENST00000293892.3	-	3	784	c.785C>T	c.(784-786)cCg>cTg	p.P262L	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	507					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGGCATCCGGGTCCCAGGG	0.677000													4	10					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144906011	144906011	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:144906011C>A	ENST00000370490.1	+	1	6323	c.2068C>A	c.(2068-2070)Cca>Aca	p.P690T	SLITRK2_ENST00000447897.2_Missense_Mutation_p.P690T|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P690T|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P690T|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P690T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	690						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTATATCCCCCCACCTGTGGG	0.463000													12	67					6.40141e-05	7.13736e-05	1	1	0
C12orf42	374470	broad.mit.edu	37	12	103699786	103699786	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:103699786C>G	ENST00000548048.1	-	8	892	c.396G>C	c.(394-396)aaG>aaC	p.K132N	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Missense_Mutation_p.K199N|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.K199N			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	199										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AGGGCTGGCCCTTAGGTCTTG	0.428000													71	130					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246810553	246810553	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:246810553C>T	ENST00000366513.4	+	9	1319	c.1050C>T	c.(1048-1050)agC>agT	p.S350S	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.S350S	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	350					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ATTCCCCAAGCCTTTCGGTAA	0.577000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	86					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97185283	97185283	+	Silent	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:97185283A>T	ENST00000514100.1	+	4	269	c.27A>T	c.(25-27)acA>acT	p.T9T	EPHA6_ENST00000502694.1_Silent_p.T9T|EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000442602.2_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ttcaagtgacaaaactgtact	0.428000													14	48					0	0	1	0	0
TRAV8-3	28683	broad.mit.edu	37	14	22320953	22320953	+	RNA	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr14:22320953A>T	ENST00000390435.1	+	0	111																											AAGGAGCCTCACTGGAGTTGA	0.507000													8	12					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69327543	69327543	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:69327543G>A	ENST00000305363.4	+	2	80	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	6					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCTTAGGCCAGATGTGGTGAG	0.433000													51	182					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873600	64873600	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:64873600C>A	ENST00000533854.1	+	2	387	c.150C>A	c.(148-150)atC>atA	p.I50I	CACNG5_ENST00000169565.3_Silent_p.I50I|CACNG5_ENST00000307139.3_Silent_p.I50I			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	50					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCACCGAGATCAAGATGTCCC	0.627000													21	70					2.89027e-11	3.86874e-11	1	1	0
TMEM38B	55151	broad.mit.edu	37	9	108467944	108467944	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:108467944G>T	ENST00000374688.1	+	2	727	c.17G>T	c.(16-18)gGt>gTt	p.G6V	TMEM38B_ENST00000374692.3_Missense_Mutation_p.G60V			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	60						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CACTGTTTTGGTGGAGGAATT	0.423000													17	46					2.48551e-13	3.46219e-13	1	1	0
C8orf37	157657	broad.mit.edu	37	8	96281313	96281313	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:96281313G>A	ENST00000286688.5	-	1	116	c.105C>T	c.(103-105)ggC>ggT	p.G35G	KB-1047C11.2_ENST00000521905.1_lincRNA	NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	35										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					TGTGGGTGCCGCCGCCGCAGC	0.612000													75	197					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2702199	2702199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:2702199G>T	ENST00000324666.5	+	17	3778	c.3427G>T	c.(3427-3429)Gag>Tag	p.E1143*	FAM193A_ENST00000545951.1_Nonsense_Mutation_p.E1143*|FAM193A_ENST00000382839.3_Nonsense_Mutation_p.E1143*|FAM193A_ENST00000502458.1_Nonsense_Mutation_p.E1165*|FAM193A_ENST00000505311.1_Nonsense_Mutation_p.E1143*	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1143										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTGCTGGCAGAGTCCCCTCA	0.473000													8	27					1.26484e-09	1.63349e-09	1	1	0
IGLC2	3538	broad.mit.edu	37	22	23243379	23243379	+	RNA	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr22:23243379G>A	ENST00000390323.2	+	0	224																											TGAGCCTGACGCCTGAGCAGT	0.577000													26	41					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	22016850	22016850	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:22016850T>G	ENST00000377072.3	+	17	2452	c.2104T>G	c.(2104-2106)Tcg>Gcg	p.S702A	MLLT10_ENST00000377059.3_Missense_Mutation_p.S686A|MLLT10_ENST00000446906.2_Missense_Mutation_p.S686A|MLLT10_ENST00000307729.7_Missense_Mutation_p.S686A	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	702					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AGGAAGTCTCTCGCCACGGTA	0.423000			T	"""MLL, PICALM, CDK6"""	AL								3	21					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73795168	73795168	+	Silent	SNP	G	G	T	rs137858493		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:73795168G>T	ENST00000223398.6	+	11	2781	c.2454G>T	c.(2452-2454)acG>acT	p.T818T	CLIP2_ENST00000361545.5_Silent_p.T783T|CLIP2_ENST00000395060.1_Silent_p.T818T	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	818						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CAGAGGAGACGATCAGGACGA	0.617000													32	90					7.61165e-28	1.26206e-27	1	1	0
SPPL2B	56928	broad.mit.edu	37	19	2340935	2340935	+	RNA	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:2340935G>A	ENST00000452401.2	+	0	956				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGCGCCCGCAGGCCCGTA	0.682000													18	22					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198682199	198682199	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:198682199C>G	ENST00000367376.2	+	12	1454	c.1283C>G	c.(1282-1284)aCa>aGa	p.T428R	PTPRC_ENST00000352140.3_Missense_Mutation_p.T380R|PTPRC_ENST00000594404.1_Missense_Mutation_p.T267R|PTPRC_ENST00000348564.6_Missense_Mutation_p.T269R|PTPRC_ENST00000442510.2_Missense_Mutation_p.T430R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	428	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATAAAAGAGACAGGTAATTTG	0.323000													9	77					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	21					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140227	3140227	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:3140227G>A	ENST00000252463.2	-	5	1130	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.P9L|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P266L	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	348					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCAGGCGTGCGGCCGCTCGTC	0.677000													6	51					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451543	155451543	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:155451543A>G	ENST00000461783.3	+	6	2459	c.1186A>G	c.(1186-1188)Aaa>Gaa	p.K396E	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.K396E|TIAM2_ENST00000360366.4_Missense_Mutation_p.K396E|TIAM2_ENST00000456144.1_Missense_Mutation_p.K396E|TIAM2_ENST00000529824.2_Missense_Mutation_p.K396E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	396					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAAGAAAAGGAAACTCCAGGT	0.537000													18	24					0	0	1	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121984	90121984	+	RNA	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:90121984C>A	ENST00000483379.1	+	0	383																											AGTCCCTAAGCACCTGATCTA	0.512000													33	251					3.4597e-24	5.60974e-24	1	1	0
KIF5C	3800	broad.mit.edu	37	2	149837994	149837994	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:149837994C>A	ENST00000435030.1	+	14	1856	c.1488C>A	c.(1486-1488)gtC>gtA	p.V496V	KIF5C_ENST00000414838.2_Silent_p.V401V|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.V264V			O60282	KIF5C_HUMAN	kinesin family member 5C	496					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGCTGGCTGTCAATTATGACC	0.512000													7	8					0.00307968	0.00324376	1	1	0
FOXJ3	22887	broad.mit.edu	37	1	42660611	42660611	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:42660611G>A	ENST00000372572.1	-	10	1195	c.884C>T	c.(883-885)tCa>tTa	p.S295L	FOXJ3_ENST00000372573.1_Missense_Mutation_p.S295L|FOXJ3_ENST00000361776.1_Missense_Mutation_p.S261L|FOXJ3_ENST00000361346.1_Missense_Mutation_p.S295L|FOXJ3_ENST00000545068.1_Missense_Mutation_p.S295L	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	295					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTCCGAAATGAGGCACTAAG	0.343000													70	116					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961915	26961915	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:26961915A>T	ENST00000528896.2	-	16	2764	c.2690T>A	c.(2689-2691)aTg>aAg	p.M897K	KIAA0100_ENST00000389003.3_Missense_Mutation_p.M754K|KIAA0100_ENST00000544884.1_Missense_Mutation_p.M754K|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	897						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCATCCTTCATCAGCTCGTA	0.478000													107	143					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455011	187455011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:187455011G>T	ENST00000307161.5	-	2	1086	c.885C>A	c.(883-885)taC>taA	p.Y295*	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	295					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TCAGTAGCCCGTATATAATGG	0.507000													7	91					0.0293803	0.0299633	1	1	0
SFTPA1	653509	broad.mit.edu	37	10	81373603	81373603	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:81373603C>A	ENST00000398636.3	+	6	619	c.481C>A	c.(481-483)Cgc>Agc	p.R161S	SFTPA1_ENST00000372308.3_Missense_Mutation_p.R161S|SFTPA1_ENST00000428376.2_Missense_Mutation_p.R161S|SFTPA1_ENST00000419470.2_Missense_Mutation_p.R176S|SFTPA1_ENST00000372313.5_Missense_Mutation_p.R102S	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	161	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGCAGGCGGCCGCATTGCTGT	0.527000													63	139					6.10891e-31	1.02279e-30	1	1	0
GREB1	9687	broad.mit.edu	37	2	11733132	11733132	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:11733132G>A	ENST00000381486.2	+	11	1876	c.1576G>A	c.(1576-1578)Gcc>Acc	p.A526T	GREB1_ENST00000234142.5_Missense_Mutation_p.A526T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	526						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTACTCCCTGGCCGAGGGCCT	0.672000													4	18					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109085525	109085525	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:109085525G>A	ENST00000309863.6	+	5	1020	c.306G>A	c.(304-306)atG>atA	p.M102I		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	102					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATATAAAAATGAAGCAAGAGG	0.313000													23	35					0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99506243	99506243	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:99506243C>A	ENST00000355947.2	-	4	889	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	TRIM4_ENST00000349062.2_Missense_Mutation_p.G228W|TRIM4_ENST00000354241.5_Missense_Mutation_p.G228W	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	254					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CTCTTCTCCCCCACCTCTAAG	0.453000													24	68					2.27525e-19	3.50144e-19	1	1	0
FANCM	57697	broad.mit.edu	37	14	45645168	45645168	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr14:45645168A>T	ENST00000267430.5	+	14	3296	c.3211A>T	c.(3211-3213)Aat>Tat	p.N1071Y	FANCM_ENST00000542564.2_Missense_Mutation_p.N1045Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1071					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGATATACCTAATGATAATAT	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	23					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173907935	173907935	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:173907935A>G	ENST00000367696.2	-	20	3677	c.3326T>C	c.(3325-3327)cTg>cCg	p.L1109P	RC3H1_ENST00000367694.2_Missense_Mutation_p.L1101P|RC3H1_ENST00000258349.4_Missense_Mutation_p.L1109P			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1109					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GTCCTCTGACAGGTTCAGAGA	0.428000													8	74					0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36932018	36932018	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:36932018G>T	ENST00000373103.1	-	17	3079	c.2532C>A	c.(2530-2532)ctC>ctA	p.L844L	CSF3R_ENST00000418048.2_Silent_p.L817L|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373106.1_Silent_p.L817L|CSF3R_ENST00000338937.5_3'UTR|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000440588.2_Silent_p.L844L|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000361632.4_Silent_p.L817L	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	817					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGGGAAGTTGAGCAGTGGCC	0.627000													5	9					3.59834e-05	4.04714e-05	1	1	0
CBX4	8535	broad.mit.edu	37	17	77807854	77807854	+	Silent	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:77807854C>G	ENST00000269397.4	-	5	1764	c.1587G>C	c.(1585-1587)tcG>tcC	p.S529S		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	529	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACTCGCTCAGCGACTCTGCAG	0.637000													26	43					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135818	55135818	+	Silent	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:55135818C>G	ENST00000314706.3	+	1	459	c.459C>G	c.(457-459)gcC>gcG	p.A153A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATACATGGCCATCTGTAAGC	0.438000													51	156					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50085246	50085246	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:50085246C>T	ENST00000376042.1	+	9	3860	c.3562C>T	c.(3562-3564)Ctg>Ttg	p.L1188L	CCNB3_ENST00000276014.7_Silent_p.L1188L|CCNB3_ENST00000348603.2_Silent_p.L84L|CCNB3_ENST00000376038.1_Silent_p.L84L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1188					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGCAGTGAAGCTGGTGGATCT	0.478000													33	85					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796982	109796982	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:109796982T>G	ENST00000297459.3	-	2	524	c.346A>C	c.(346-348)Aaa>Caa	p.K116Q	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	116					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGATGTTTTTGTCCACATAG	0.493000													36	61					0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4383221	4383221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:4383221C>A	ENST00000261254.3	+	1	284	c.15C>A	c.(13-15)tgC>tgA	p.C5*	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	5					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AGCTGCTGTGCCACGAGGTGG	0.642000			T	IGL@	"""NHL,CLL"""								3	14					0.004672	0.00488091	1	1	0
ZNF235	9310	broad.mit.edu	37	19	44792341	44792341	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:44792341G>C	ENST00000291182.4	-	5	1349	c.1247C>G	c.(1246-1248)tCa>tGa	p.S416*	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTGAAGATGTGATCTCTGAGT	0.428000													6	50					0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42049694	42049694	+	Splice_Site	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr22:42049694G>T	ENST00000359308.4	+	8	1946	c.1291_splice	c.e8+1	p.G431_splice	XRCC6_ENST00000405506.1_Splice_Site_p.G381_splice|XRCC6_ENST00000428575.2_Splice_Site_p.G298_splice|XRCC6_ENST00000405878.1_Splice_Site_p.G431_splice|XRCC6_ENST00000402580.3_Splice_Site_p.G390_splice|XRCC6_ENST00000360079.3_Splice_Site_p.G431_splice			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	431	Ku.				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GACTCCTCCAGGTATGTGGCA	0.483000								Non-homologous end-joining					27	51					9.90768e-06	1.14183e-05	1	1	0
GPR133	283383	broad.mit.edu	37	12	131623760	131623760	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:131623760G>A	ENST00000261654.5	+	25	3136	c.2577G>A	c.(2575-2577)tgG>tgA	p.W859*	GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Nonsense_Mutation_p.W378*|GPR133_ENST00000376682.4_Nonsense_Mutation_p.W545*|GPR133_ENST00000535015.1_Nonsense_Mutation_p.W891*	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	859					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCAGCCCTTGGGACAAGAGCA	0.647000													6	28					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004169	42004169	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:42004169C>A	ENST00000395925.3	-	15	4586	c.4502G>T	c.(4501-4503)gGg>gTg	p.G1501V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1501	Asp/Glu-rich (acidic).				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AATCTGTACCCCTTCCAGGTC	0.547000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				15	52					1.05317e-09	1.36699e-09	1	1	0
UBQLN2	29978	broad.mit.edu	37	X	56591547	56591547	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:56591547C>G	ENST00000338222.5	+	1	1522	c.1241C>G	c.(1240-1242)cCg>cGg	p.P414R		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	414						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CTGAATAGCCCGCTGTTTACT	0.532000													11	27					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140672428	140672428	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:140672428G>C	ENST00000460843.1	+	13	2140	c.2113G>C	c.(2113-2115)Ggg>Cgg	p.G705R	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.G674R|EHMT1_ENST00000462484.1_Missense_Mutation_p.G705R	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	705					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCTGGGCTTGGGAGGCCAAC	0.617000													23	49					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219562258	219562258	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:219562258C>T	ENST00000295709.3	+	24	3113	c.2834C>T	c.(2833-2835)tCc>tTc	p.S945F	STK36_ENST00000440309.1_Missense_Mutation_p.S945F|STK36_ENST00000392105.3_Missense_Mutation_p.S924F|STK36_ENST00000392106.2_Missense_Mutation_p.S924F	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	945					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGCTGCCTGTCCCAGCATGGA	0.557000													16	43					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816485	90816485	+	Silent	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:90816485T>A	ENST00000394980.1	+	2	682	c.363T>A	c.(361-363)gcT>gcA	p.A121A	MMRN1_ENST00000394981.1_Silent_p.A87A|MMRN1_ENST00000264790.2_Silent_p.A121A			Q13201	MMRN1_HUMAN	multimerin 1	121					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAACCAACGCTAGCATCAAGT	0.443000													24	54					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19115174	19115174	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:19115174C>A	ENST00000601879.1	-	7	3029	c.2732G>T	c.(2731-2733)gGg>gTg	p.G911V	SUGP2_ENST00000600377.1_Missense_Mutation_p.G925V|SUGP2_ENST00000456085.2_Missense_Mutation_p.G680V|SUGP2_ENST00000452918.2_Missense_Mutation_p.G911V|SUGP2_ENST00000337018.6_Missense_Mutation_p.G911V			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	911					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTTGCCCGCCCCTCCAGGAGC	0.706000													12	19					2.68362e-12	3.63953e-12	1	1	0
SLC4A7	9497	broad.mit.edu	37	3	27450878	27450878	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:27450878C>A	ENST00000295736.5	-	13	1953	c.1883G>T	c.(1882-1884)gGg>gTg	p.G628V	SLC4A7_ENST00000440156.1_Missense_Mutation_p.G624V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G504V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G178V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G509V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G509V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G637V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G513V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G624V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G620V|SLC4A7_ENST00000425128.2_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	628						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TCCAAGCAGCCCTCCAAAAGT	0.453000													48	171					1.47857e-17	2.2157e-17	1	1	0
HOXA2	3199	broad.mit.edu	37	7	27141033	27141033	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:27141033G>T	ENST00000222718.5	-	2	753	c.443C>A	c.(442-444)aCt>aAt	p.T148N		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	148						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GGTGTAAGCAGTTCTCAGGCG	0.542000													13	32					4.93089e-13	6.79485e-13	1	1	0
ZNF695	57116	broad.mit.edu	37	1	247151533	247151533	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:247151533T>C	ENST00000339986.7	-	4	431	c.284A>G	c.(283-285)gAc>gGc	p.D95G	ZNF695_ENST00000487338.2_Missense_Mutation_p.D95G|ZNF695_ENST00000498046.2_5'UTR	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	95					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGGCAAAATGTCTTCAGTAAG	0.338000													8	76					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94772663	94772663	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:94772663C>A	ENST00000397809.5	-	7	1254	c.705G>T	c.(703-705)aaG>aaT	p.K235N	CCDC41_ENST00000397807.2_Missense_Mutation_p.K202N|CCDC41_ENST00000339839.5_Missense_Mutation_p.K235N|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Missense_Mutation_p.K235N	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	227										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CCTTTTCAGCCTTTAATTCCG	0.438000													26	123					2.44723e-14	3.53336e-14	1	1	0
GLTSCR1	29998	broad.mit.edu	37	19	48184101	48184101	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:48184101C>T	ENST00000396720.3	+	6	1868	c.1674C>T	c.(1672-1674)ccC>ccT	p.P558P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	558							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TCCAGATGCCCGTGTCGCTGG	0.771000													7	7					0	0	1	0	0
CBWD6	644019	broad.mit.edu	37	9	69238282	69238282	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:69238282T>C	ENST00000377457.5	-	8	715	c.610A>G	c.(610-612)Aaa>Gaa	p.K204E	CBWD6_ENST00000377449.1_Missense_Mutation_p.K168E|CBWD6_ENST00000382399.4_Missense_Mutation_p.K184E	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	204							ATP binding			lung(4)	4						AAGTCTGTTTTATTAATGAGA	0.313000													9	143					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735646	12735646	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:12735646C>A	ENST00000380682.1	+	16	3207	c.2701C>A	c.(2701-2703)Cct>Act	p.P901T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	901					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGCTTATAGTCCTGAGTCTTC	0.458000													45	87					1.7489e-18	2.65173e-18	1	1	0
WDR92	116143	broad.mit.edu	37	2	68358578	68358578	+	Splice_Site	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:68358578C>A	ENST00000295121.6	-	8	983		c.e8-1		WDR92_ENST00000492039.2_Splice_Site	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92						apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						AGGGTATTCACTGAAAACAAG	0.388000													27	43					1.17739e-12	1.61381e-12	1	1	0
AASS	10157	broad.mit.edu	37	7	121741465	121741465	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:121741465G>A	ENST00000393376.1	-	12	1461	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	AASS_ENST00000417368.2_Missense_Mutation_p.P456S|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	456					protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TATTTATCAGGTAATGTACCG	0.338000													11	50					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60233562	60233562	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:60233562C>T	ENST00000534668.1	+	5	794	c.505C>T	c.(505-507)Cca>Tca	p.P169S	MS4A1_ENST00000389939.2_Missense_Mutation_p.P169S|MS4A1_ENST00000345732.4_Missense_Mutation_p.P169S|MS4A1_ENST00000532073.1_Missense_Mutation_p.P169S|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	169	Epitope 3 (recognized by antibodies, including Rituximab).				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CAACTGTGAACCAGCTAATCC	0.343000													18	60					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212296	149212296	+	Silent	SNP	C	C	T	rs146789368		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:149212296C>T	ENST00000309241.5	+	5	692	c.660C>T	c.(658-660)ctC>ctT	p.L220L	PPARGC1B_ENST00000360453.4_Silent_p.L181L|PPARGC1B_ENST00000394320.3_Silent_p.L220L|PPARGC1B_ENST00000403750.1_Silent_p.L156L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	220					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATAAGCACCTCACCTCGGCAC	0.607000													39	108					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713529	70713529	+	RNA	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr14:70713529T>C	ENST00000530196.1	-	0	989					NR_003951.1																						GACTGATTTGTTTCCGTTGAG	0.358000													26	41					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960056	200960056	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:200960056G>T	ENST00000332129.2	-	18	2992	c.2676C>A	c.(2674-2676)acC>acA	p.T892T	KIF21B_ENST00000360529.5_Silent_p.T892T|KIF21B_ENST00000422435.2_Silent_p.T892T|KIF21B_ENST00000461742.2_Silent_p.T892T	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	892					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGCAGGACGGGTGCCATTGA	0.637000													27	74					9.39395e-14	1.33753e-13	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821878	5821878	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:5821878C>A	ENST00000381095.3	-	5	1468	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C	NLGN4X_ENST00000538097.1_Missense_Mutation_p.G281C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G281C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G301C|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G281C	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	281					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGGGCGGTGCCGCTCTGAATG	0.532000													27	54					2.12542e-12	2.89778e-12	1	1	0
MOXD1	26002	broad.mit.edu	37	6	132693762	132693762	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:132693762C>T	ENST00000367963.3	-	4	766	c.648G>A	c.(646-648)aaG>aaA	p.K216K	MOXD1_ENST00000336749.3_Silent_p.K148K	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	216					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTACATGATGCTTTTCTTGGA	0.313000													25	61					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29908641	29908641	+	Splice_Site	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:29908641C>A	ENST00000256062.5	-	4	881		c.e4+1		TMTC1_ENST00000539277.1_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site|TMTC1_ENST00000552618.1_Splice_Site|TMTC1_ENST00000551659.1_Splice_Site	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAATGACTTACGACTTGTCTT	0.383000													17	41					2.48551e-13	3.46219e-13	1	1	0
MMP2	4313	broad.mit.edu	37	16	55519231	55519231	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:55519231T>C	ENST00000219070.4	+	4	1059	c.550T>C	c.(550-552)Ttt>Ctt	p.F184L	MMP2_ENST00000437642.2_Missense_Mutation_p.F134L|MMP2_ENST00000543485.1_Missense_Mutation_p.F108L|MMP2_ENST00000570308.1_Missense_Mutation_p.F108L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	184	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGGATACCCCTTTGACGGTAA	0.562000													43	66					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168181004	168181004	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:168181004C>T	ENST00000519560.1	-	17	2113	c.1694G>A	c.(1693-1695)aGt>aAt	p.S565N	SLIT3_ENST00000332966.8_Missense_Mutation_p.S565N|SLIT3_ENST00000404867.3_Missense_Mutation_p.S565N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	565					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTATTGTTACTCAGATTTCT	0.547000													5	9					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248113086	248113086	+	Silent	SNP	T	T	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:248113086T>G	ENST00000357191.3	+	1	927	c.927T>G	c.(925-927)tcT>tcG	p.S309S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GAATCTGCTCTGTGAAAATGT	0.453000													5	49					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163581	139163581	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:139163581G>A	ENST00000395297.1	-	13	3307	c.3137C>T	c.(3136-3138)tCt>tTt	p.S1046F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1046								p.S1046Y(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTGGGCACAGATGAGAAAGG	0.522000										HNSCC(54;0.14)			17	46					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141535635	141535635	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:141535635C>T	ENST00000264952.2	+	4	1542	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	469	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTAATTGAACCCCCATTTGT	0.433000													53	115					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110252543	110252543	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:110252543C>A	ENST00000418703.2	-	1	153	c.59G>T	c.(58-60)gGg>gTg	p.G20V	TRPV4_ENST00000544971.1_Missense_Mutation_p.G20V|TRPV4_ENST00000541794.1_Missense_Mutation_p.G20V|TRPV4_ENST00000537083.1_Missense_Mutation_p.G20V|TRPV4_ENST00000392719.2_Missense_Mutation_p.G20V|TRPV4_ENST00000346520.2_Missense_Mutation_p.G20V|TRPV4_ENST00000261740.2_Missense_Mutation_p.G20V|TRPV4_ENST00000536838.1_Missense_Mutation_p.G20V|TRPV4_ENST00000536570.1_5'UTR	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	20					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ACTCTCATCCCCGGGGAGCTC	0.682000													3	7					0.004672	0.00488091	1	1	0
FAT3	120114	broad.mit.edu	37	11	92577629	92577629	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:92577629T>A	ENST00000298047.6	+	18	11113	c.11096T>A	c.(11095-11097)cTg>cAg	p.L3699Q	FAT3_ENST00000409404.2_Missense_Mutation_p.L3699Q|FAT3_ENST00000525166.1_Missense_Mutation_p.L3549Q|FAT3_ENST00000533797.1_Missense_Mutation_p.L34Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3699					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCAACCAACTGGACATGCTG	0.572000										TCGA Ovarian(4;0.039)			6	33					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56877595	56877595	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:56877595G>T	ENST00000257287.4	+	20	2647	c.2523G>T	c.(2521-2523)ttG>ttT	p.L841F		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	841					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CATTGGAATTGGAAGCAGCAG	0.328000													11	37					0.000673444	0.000725682	1	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156909460	156909460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:156909460C>A	ENST00000368194.3	-	37	5015	c.3976G>T	c.(3976-3978)Gaa>Taa	p.E1326*	ARHGEF11_ENST00000315174.8_Nonsense_Mutation_p.E702*|ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.E1286*|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1286					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTAGGTGTTCCAGAGAACAG	0.592000													18	27					9.16793e-09	1.15498e-08	1	1	0
PLSCR3	57048	broad.mit.edu	37	17	7296963	7296963	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:7296963A>C	ENST00000535512.1	-	6	1217	c.200T>G	c.(199-201)tTg>tGg	p.L67W	PLSCR3_ENST00000576362.1_Missense_Mutation_p.L67W|PLSCR3_ENST00000324822.11_Missense_Mutation_p.L67W|PLSCR3_ENST00000576201.1_Missense_Mutation_p.L67W|PLSCR3_ENST00000574401.1_Missense_Mutation_p.L67W|C17orf61-PLSCR3_ENST00000573331.1_3'UTR			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	67					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				TGGCAGTGGCAAGAAGGGGGC	0.697000													12	24					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122611894	122611894	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:122611894G>T	ENST00000319080.6	+	2	637	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	169	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CATCTGGCGGGCCTGGTACAT	0.592000													6	6					3.59834e-05	4.04714e-05	1	1	0
VTN	7448	broad.mit.edu	37	17	26696373	26696373	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:26696373G>T	ENST00000226218.4	-	4	1224	c.606C>A	c.(604-606)atC>atA	p.I202I	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	202	Hemopexin-like 1.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TGGGGCCCTCGATGCCCCAGA	0.587000													33	45					2.08457e-15	3.04394e-15	1	1	0
IGHV4-28	28400	broad.mit.edu	37	14	106780664	106780664	+	RNA	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr14:106780664C>A	ENST00000390612.2	-	0	271																											GTACCCAATCCACTCCAGTCC	0.562000													45	66					1.22674e-20	1.91655e-20	1	1	0
CMTR2	55783	broad.mit.edu	37	16	71317600	71317600	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:71317600A>C	ENST00000338099.5	-	3	2560	c.2224T>G	c.(2224-2226)Ttg>Gtg	p.L742V	FTSJD1_ENST00000434935.2_Missense_Mutation_p.L742V			Q8IYT2	FTSJ1_HUMAN		742						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGCATTCAAATCCCACAAA	0.413000													5	30					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36046392	36046392	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:36046392G>A	ENST00000262623.3	-	14	2135	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	703					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGGCTGGTGCGCGCAAACACC	0.662000													13	89					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735264	54735264	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:54735264A>T	ENST00000306858.7	+	2	336	c.220A>T	c.(220-222)Agc>Tgc	p.S74C		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	74										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTTGCACAAAGCACAGCACA	0.403000													27	106					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45875001	45875001	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:45875001C>A	ENST00000311275.7	-	14	2228	c.1975G>T	c.(1975-1977)Gac>Tac	p.D659Y	ZMYND8_ENST00000536340.1_Missense_Mutation_p.D686Y|ZMYND8_ENST00000446994.2_Missense_Mutation_p.D596Y|ZMYND8_ENST00000396281.4_Missense_Mutation_p.D659Y|ZMYND8_ENST00000352431.2_Missense_Mutation_p.D679Y|ZMYND8_ENST00000262975.4_Missense_Mutation_p.D659Y|ZMYND8_ENST00000372023.3_Missense_Mutation_p.D654Y|ZMYND8_ENST00000355972.4_Missense_Mutation_p.D659Y|ZMYND8_ENST00000458360.2_Missense_Mutation_p.D654Y|ZMYND8_ENST00000471951.2_Missense_Mutation_p.D679Y|ZMYND8_ENST00000461685.1_Missense_Mutation_p.D679Y|ZMYND8_ENST00000360911.3_Missense_Mutation_p.D654Y|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000540497.1_Missense_Mutation_p.D607Y			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	659							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTCCAGGGTCTGCCTTCTCG	0.507000													68	80					5.22007e-41	8.85517e-41	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113246665	113246665	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:113246665A>T	ENST00000297405.5	-	68	10913	c.10669T>A	c.(10669-10671)Tat>Aat	p.Y3557N	CSMD3_ENST00000352409.3_Missense_Mutation_p.Y3487N|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y3517N|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y3388N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3557						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTAATAAGATATATGCGTAAC	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			54	128					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57857532	57857532	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:57857532C>A	ENST00000228682.2	+	2	149	c.58C>A	c.(58-60)Cgg>Agg	p.R20R	GLI1_ENST00000543426.1_Intron|GLI1_ENST00000546141.1_Silent_p.R20R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	20					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R20W(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTGCTGTCTCCGGCCCCTCCC	0.602000													19	38					1.00905e-13	1.42879e-13	1	1	0
ZNF260	339324	broad.mit.edu	37	19	37005326	37005326	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:37005326C>A	ENST00000523638.1	-	3	1936	c.815G>T	c.(814-816)gGa>gTa	p.G272V	ZNF260_ENST00000588993.1_Missense_Mutation_p.G272V|ZNF260_ENST00000593142.1_Missense_Mutation_p.G272V|ZNF260_ENST00000592282.1_Missense_Mutation_p.G272V	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	272					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GGGTTTCTCTCCAATATGAAT	0.393000													24	209					1.64293e-13	2.31361e-13	1	1	0
RFPL3	10738	broad.mit.edu	37	22	32756701	32756701	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr22:32756701T>A	ENST00000249007.4	+	2	1041	c.836T>A	c.(835-837)cTg>cAg	p.L279Q	RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000461833.1_5'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.L250Q|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.L250Q	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	279	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GAGGAGCCACTGCGCCCATTT	0.478000													16	82					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43214429	43214429	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:43214429G>A	ENST00000259750.4	+	2	114	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	11						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTTAAGGACGAAACCAACAT	0.667000													5	27					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833549	101833549	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:101833549A>G	ENST00000263468.8	+	6	2053	c.1783A>G	c.(1783-1785)Ata>Gta	p.I595V	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I396V	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	595							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GGCATTAATTATAAATCAGAG	0.289000													9	50					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802585	185802585	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:185802585C>A	ENST00000302277.6	+	4	3056	c.2462C>A	c.(2461-2463)cCc>cAc	p.P821H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	821						intracellular	zinc ion binding	p.P821H(1)|p.P821R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGATTCCACCCCGGATTTGAA	0.388000													14	41					3.27435e-08	4.04571e-08	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	6069322	6069322	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:6069322T>A	ENST00000381095.3	-	2	813	c.186A>T	c.(184-186)ttA>ttT	p.L62F	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000538097.1_Missense_Mutation_p.L62F|NLGN4X_ENST00000275857.6_Missense_Mutation_p.L62F|NLGN4X_ENST00000381093.2_Missense_Mutation_p.L62F|NLGN4X_ENST00000381092.1_Missense_Mutation_p.L62F	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	62					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTCATTGGGTAACGGTGTTC	0.537000													27	84					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161576318	161576318	+	Splice_Site	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:161576318C>A	ENST00000356592.3	+	8	1587	c.1128_splice	c.e8+1	p.P376_splice	GABRG2_ENST00000393933.4_Splice_Site_p.P281_splice|GABRG2_ENST00000414552.2_Splice_Site_p.P416_splice|GABRG2_ENST00000361925.4_Splice_Site_p.P376_splice	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	376					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAGAAAAACCCTGTATGTATC	0.398000													15	58					1.05317e-09	1.36699e-09	1	1	0
SLC4A1	6521	broad.mit.edu	37	17	42334739	42334739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:42334739C>A	ENST00000262418.6	-	13	1760	c.1605G>T	c.(1603-1605)gaG>gaT	p.E535D		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	535	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGGAGAAAGTCTCATAGATGA	0.542000													26	44					6.32553e-13	8.69338e-13	1	1	0
OTOF	9381	broad.mit.edu	37	2	26725172	26725172	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:26725172T>G	ENST00000272371.2	-	7	832	c.706A>C	c.(706-708)Aag>Cag	p.K236Q	OTOF_ENST00000403946.3_Missense_Mutation_p.K236Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	236					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCACCGCTTGTTGGAGACA	0.582000													10	28					0	0	1	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123127378	123127378	+	Splice_Site	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:123127378G>C	ENST00000368440.4	+	7	1097	c.919_splice	c.e7-1	p.G307_splice	SMPDL3A_ENST00000539041.1_Splice_Site_p.G176_splice	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	307					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTTTGTTCAGGAAGTCCAGTA	0.318000													7	31					0	0	1	0	0
FOXD3	27022	broad.mit.edu	37	1	63789463	63789463	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:63789463T>A	ENST00000371116.2	+	1	734	c.734T>A	c.(733-735)cTg>cAg	p.L245Q	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	245					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CAGGAGCACCTGCGCGAGCAG	0.701000													27	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048390	9048390	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:9048390C>G	ENST00000397910.4	-	5	33444	c.33241G>C	c.(33241-33243)Gcc>Ccc	p.A11081P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11083	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGAGCTGGCTTCTGCCCCA	0.493000													9	58					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	101847171	101847171	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:101847171G>T	ENST00000369138.1	+	1	508	c.18G>T	c.(16-18)ccG>ccT	p.P6P	GRIK2_ENST00000358361.3_Silent_p.P6P|GRIK2_ENST00000413795.1_Silent_p.P6P|GRIK2_ENST00000318991.6_Silent_p.P6P|GRIK2_ENST00000421544.1_Silent_p.P6P|GRIK2_ENST00000369137.3_Silent_p.P6P	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	6					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTATTTTCCCGATTCTAAGTA	0.478000													13	69					0.00185496	0.00197811	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126755826	126755826	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:126755826C>T	ENST00000274473.6	+	13	1784	c.1517C>T	c.(1516-1518)gCc>gTc	p.A506V	MEGF10_ENST00000503335.2_Missense_Mutation_p.A506V|MEGF10_ENST00000418761.2_Missense_Mutation_p.A506V|MEGF10_ENST00000508365.1_Missense_Mutation_p.A506V	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	506	EGF-like 9.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AACGGGGGAGCCTGCAACACC	0.612000													13	30					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122768611	122768611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:122768611C>A	ENST00000264499.4	-	10	1168	c.985G>T	c.(985-987)Gga>Tga	p.G329*	BBS7_ENST00000506636.1_Nonsense_Mutation_p.G329*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	329					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTTCTTCTCCTGGTCCACTT	0.363000									Bardet-Biedl syndrome				16	65					4.7546e-09	6.06418e-09	1	1	0
NPPC	4880	broad.mit.edu	37	2	232790340	232790340	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:232790340C>G	ENST00000409852.1	-	2	329	c.176G>C	c.(175-177)gGc>gCc	p.G59A	NPPC_ENST00000295440.2_Missense_Mutation_p.G59A	NM_024409.2	NP_077720.1	P23582	ANFC_HUMAN	natriuretic peptide C	59					cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction		hormone activity						all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		GGCGCCCCCGCCCCCGGGAGC	0.721000													4	6					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38151018	38151018	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:38151018G>T	ENST00000308059.6	+	22	3246	c.3225G>T	c.(3223-3225)gtG>gtT	p.V1075V	DLEC1_ENST00000452631.2_Silent_p.V1075V|DLEC1_ENST00000346219.3_Silent_p.V1075V			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1075					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GACTGCAAGTGGCCATTACCA	0.582000													16	47					3.41278e-10	4.49787e-10	1	1	0
MPPED2	744	broad.mit.edu	37	11	30557626	30557626	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:30557626C>A	ENST00000448418.2	-	3	585	c.225G>T	c.(223-225)atG>atT	p.M75I	MPPED2_ENST00000358117.5_Missense_Mutation_p.M75I	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	75					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CCCCATAAGGCATCTGGATAC	0.512000													16	32					0.0285812	0.0293228	1	1	0
IGKV1-8	28942	broad.mit.edu	37	2	89292187	89292187	+	RNA	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:89292187G>A	ENST00000495489.1	-	0	138																											AGAGAATGAGGATGGAGACTG	0.448000													33	155					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365724	13365724	+	Nonsense_Mutation	SNP	C	C	A	rs139200225		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:13365724C>A	ENST00000379287.3	-	2	1088	c.424G>T	c.(424-426)Gag>Tag	p.E142*	GFOD1_ENST00000379284.1_Nonsense_Mutation_p.E39*	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	142						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ACCAGCGGCTCGCCCACGTAG	0.642000													10	39					1.08611e-07	1.31976e-07	1	1	0
ARHGEF9	23229	broad.mit.edu	37	X	62944520	62944520	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:62944520C>A	ENST00000253401.6	-	2	881	c.81G>T	c.(79-81)ttG>ttT	p.L27F	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L25F|ARHGEF9_ENST00000437457.2_Intron|ARHGEF9_ENST00000374870.4_Intron|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L6F	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	27	SH3.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTTTAAATGCCAACTCCCGGT	0.512000													21	60					4.96729e-08	6.09353e-08	1	1	0
CRISP2	7180	broad.mit.edu	37	6	49666169	49666169	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:49666169G>T	ENST00000339139.4	-	7	559	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	108						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GATTGCAGAAGACCAGGAAGT	0.418000													19	88					3.99206e-14	5.71565e-14	1	1	0
ZNF823	55552	broad.mit.edu	37	19	11833011	11833011	+	Silent	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:11833011A>G	ENST00000341191.6	-	4	1491	c.1338T>C	c.(1336-1338)tgT>tgC	p.C446C	ZNF823_ENST00000545749.1_Silent_p.C264C	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TCCCACACTGACATTTATAGG	0.428000										HNSCC(68;0.2)			5	75					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129465094	129465094	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:129465094C>A	ENST00000421865.2	+	5	737	c.688C>A	c.(688-690)Cca>Aca	p.P230T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	230	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGATCCTTCTCCAGAACTGCT	0.378000													12	62					0.00136819	0.00146206	1	1	0
TTN	7273	broad.mit.edu	37	2	179443973	179443973	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:179443973G>T	ENST00000589042.1	-	320	68008	c.67784C>A	c.(67783-67785)aCt>aAt	p.T22595N	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T13722N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T20027N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T20954N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T13655N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T13530N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20954	Fibronectin type-III 64.						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)			ACTGACTCTAGTGTCAGTTGC	0.428000													19	66					4.96729e-08	6.09353e-08	1	1	0
LGALS14	56891	broad.mit.edu	37	19	40199934	40199934	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:40199934G>T	ENST00000392052.3	+	4	624	c.401G>T	c.(400-402)aGa>aTa	p.R134I	LGALS14_ENST00000360675.3_Missense_Mutation_p.R163I	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	134	Galectin.					nucleus	sugar binding	p.R163K(1)|p.R134K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TCCCTGACCAGAGTGCTTATC	0.468000													73	41					2.94884e-30	4.92111e-30	1	1	0
FAM66D	100132923	broad.mit.edu	37	8	11985837	11985837	+	RNA	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:11985837G>T	ENST00000434078.2	+	0	608					NR_027425.1																						CGGTGACGACGAGAACAGCAT	0.478000													6	22					0.0215528	0.0221562	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112717030	112717030	+	Splice_Site	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:112717030A>T	ENST00000550722.1	-	9	1651		c.e9+1		HECTD4_ENST00000430131.2_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AAATTCACTTACTTTTTAAAG	0.388000													6	65					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185831	127185831	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:127185831G>T	ENST00000371124.3	-	1	551	c.355C>A	c.(355-357)Cga>Aga	p.R119R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	119						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGCTTTTCTCGAATTTCCCTA	0.493000													47	161					5.34276e-22	8.44977e-22	1	1	0
HDAC9	9734	broad.mit.edu	37	7	19035653	19035653	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:19035653G>C	ENST00000406451.3	+	26	3319	c.3169G>C	c.(3169-3171)Ggt>Cgt	p.G1057R	HDAC9_ENST00000401921.1_Missense_Mutation_p.G1016R|HDAC9_ENST00000441542.2_Missense_Mutation_p.G1060R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.G1060S(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAGAACTGCTGGTGAGCCTAT	0.443000													4	7					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407797	2407797	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:2407797A>C	ENST00000381223.4	-	2	1167	c.964T>G	c.(964-966)Ttc>Gtc	p.F322V	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.F322V|ZBED1_ENST00000381222.2_Missense_Mutation_p.F322V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	322						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACTGCTGGAAGTACTCCACC	0.637000													7	45					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22575597	22575597	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:22575597G>T	ENST00000357774.5	-	4	561	c.440C>A	c.(439-441)aCa>aAa	p.T147K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CTGGGTAGTTGTCAAACACTG	0.308000													4	30					1.024e-07	1.24724e-07	1	1	0
TFAP2C	7022	broad.mit.edu	37	20	55211799	55211799	+	Silent	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:55211799A>G	ENST00000201031.2	+	6	1299	c.1056A>G	c.(1054-1056)ctA>ctG	p.L352L	TFAP2C_ENST00000544508.1_Silent_p.L183L	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	352	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AGAACATGCTATTGGCGGCCC	0.458000													44	34					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	17875781	17875781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:17875781C>A	ENST00000331429.2	+	4	848	c.745C>A	c.(745-747)Caa>Aaa	p.Q249K	MRC1L1_ENST00000457317.1_Missense_Mutation_p.Q249K																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGCTGCCAACAACAGAACGC	0.453000													23	130					2.39556e-15	3.47831e-15	1	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47630156	47630156	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:47630156G>T	ENST00000371917.4	+	29	3974	c.3974G>T	c.(3973-3975)tGg>tTg	p.W1325L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1325					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GACAGAGTCTGGGTCCGAGGC	0.453000													36	41					3.03874e-20	4.70455e-20	1	1	0
RRAGC	64121	broad.mit.edu	37	1	39305272	39305272	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:39305272T>A	ENST00000373001.3	-	7	1329	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	385					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GCTTTCAGACTGGAGGCACTA	0.522000													27	24					0	0	1	0	0
FABP3	2170	broad.mit.edu	37	1	31845857	31845857	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:31845857A>G	ENST00000373713.2	-	1	66	c.5T>C	c.(4-6)gTg>gCg	p.V2A		NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	2				V -> A (in Ref. 2; CAA71305).	negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		GAAAGCGTCCACCATAGTGAT	0.592000													15	29					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103455093	103455093	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:103455093A>C	ENST00000358392.2	-	29	2728	c.2411T>G	c.(2410-2412)aTg>aGg	p.M804R	COL11A1_ENST00000353414.4_Missense_Mutation_p.M753R|COL11A1_ENST00000512756.1_Missense_Mutation_p.M676R|COL11A1_ENST00000370096.3_Missense_Mutation_p.M792R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	792	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTAGACCCATGTCACCTTT	0.294000													7	55					0	0	1	0	0
KCNRG	283518	broad.mit.edu	37	13	50589677	50589677	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr13:50589677C>G	ENST00000360473.4	+	1	288	c.48C>G	c.(46-48)ttC>ttG	p.F16L	TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000312942.1_Missense_Mutation_p.F16L|TRIM13_ENST00000478111.1_Intron	NM_199464.2	NP_955751.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	16	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		GGAAGATATTCACGACAAGGT	0.448000													9	76					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:14316390T>A	ENST00000545643.1	-	3	546	c.233A>T	c.(232-234)cAa>cTa	p.Q78L	RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000534746.1_5'UTR	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393000													191	67					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860646	13860646	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:13860646G>T	ENST00000285018.4	-	4	1149	c.845C>A	c.(844-846)cCg>cAg	p.P282Q		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	282					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GCCGGTCACCGGGTCCTCCTC	0.637000													19	52					4.35082e-09	5.56298e-09	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768665	31768665	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:31768665G>A	ENST00000240587.4	-	2	2361	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	678					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCCCATCCTTGCACCCATCCC	0.647000													11	67					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90166902	90166902	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr15:90166902C>G	ENST00000268138.7	+	20	3466	c.3361C>G	c.(3361-3363)Cca>Gca	p.P1121A	TICRR_ENST00000560985.1_Missense_Mutation_p.P1120A|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		TAAAACTACACCAAGAAGGAT	0.408000													14	135					0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73511587	73511587	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:73511587C>T	ENST00000394957.3	-	6	794	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	246						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGTGAGGCTTCAAAGCCGGGG	0.607000													6	23					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72845582	72845582	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:72845582C>T	ENST00000268489.5	-	7	4430	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R339H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1253					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGGGGGCAGCGAAGCATGGG	0.587000													24	26					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983012	57983012	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:57983012G>C	ENST00000309433.6	+	1	796	c.796G>C	c.(796-798)Gga>Cga	p.G266R		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ACTGTTCTACGGAACCATTGT	0.483000													17	75					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122768610	122768610	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:122768610C>A	ENST00000264499.4	-	10	1169	c.986G>T	c.(985-987)gGa>gTa	p.G329V	BBS7_ENST00000506636.1_Missense_Mutation_p.G329V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	329					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAGTTCTTCTCCTGGTCCACT	0.363000									Bardet-Biedl syndrome				17	66					1.15088e-07	1.39517e-07	1	1	0
ARHGEF4	50649	broad.mit.edu	37	2	131798981	131798981	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:131798981G>C	ENST00000392953.3	+	9	1802	c.1283G>C	c.(1282-1284)tGc>tCc	p.C428S	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.C357S|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.C428S|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.C428S|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.C368S|ARHGEF4_ENST00000428230.2_Intron	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	428	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CAGAAGATCTGCAAGTACCCT	0.602000													16	49					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63177324	63177324	+	Missense_Mutation	SNP	C	C	T	rs142543443	byFrequency	TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:63177324C>T	ENST00000279178.3	+	10	1901	c.1652C>T	c.(1651-1653)aCg>aTg	p.T551M	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	551					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GTGGAAGTGACGCAGTTTTAA	0.398000													5	20					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153699892	153699892	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:153699892G>T	ENST00000369682.3	+	32	5606	c.5431G>T	c.(5431-5433)Gtg>Ttg	p.V1811L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1811					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCTACCTGGTGGAGCAGTC	0.547000													30	36					1.75199e-13	2.45373e-13	1	1	0
RNF152	220441	broad.mit.edu	37	18	59483691	59483691	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr18:59483691C>A	ENST00000312828.3	-	2	1105	c.6G>T	c.(4-6)gaG>gaT	p.E2D		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	2					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GGGACAGCGTCTCCATGGTGG	0.582000													23	42					3.5997e-14	5.16828e-14	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40392003	40392003	+	Silent	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:40392003A>G	ENST00000406785.1	-	5	2241	c.2052T>C	c.(2050-2052)taT>taC	p.Y684Y	SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.Y715Y|SLC8A1_ENST00000542024.1_Silent_p.Y684Y|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.Y712Y|SLC8A1_ENST00000406391.2_Silent_p.Y684Y|SLC8A1_ENST00000405901.3_Silent_p.Y715Y|SLC8A1_ENST00000405269.1_Silent_p.Y684Y|SLC8A1_ENST00000403092.1_Silent_p.Y720Y|SLC8A1_ENST00000402441.1_Silent_p.Y684Y|SLC8A1_ENST00000332839.4_Silent_p.Y720Y			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	720					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCTTGAATTCATAGGATTCTT	0.517000													58	96					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591031	86591031	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:86591031G>T	ENST00000370571.2	-	3	1354	c.988C>A	c.(988-990)Cat>Aat	p.H330N	COL24A1_ENST00000436319.1_Missense_Mutation_p.H330N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	330					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGAATCCCATGGTTTGTGAGA	0.413000													40	48					7.04047e-22	1.10667e-21	1	1	0
PPP1R42	286187	broad.mit.edu	37	8	67900726	67900726	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:67900726C>G	ENST00000522909.1	-	6	763	c.579G>C	c.(577-579)ttG>ttC	p.L193F	PPP1R42_ENST00000324682.5_Missense_Mutation_p.L193F			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	193																	ACAGCTTCATCAACTTGTTCA	0.338000													4	36					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97313904	97313904	+	Splice_Site	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:97313904G>T	ENST00000266742.4	+	6	828		c.e6+1		NEDD1_ENST00000555114.1_Splice_Site|NEDD1_ENST00000429527.2_Splice_Site|NEDD1_ENST00000557644.1_Splice_Site|NEDD1_ENST00000411739.2_Splice_Site|NEDD1_ENST00000457368.2_Splice_Site	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1						cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TAGTAACCAGGTACAGTATGA	0.313000													29	61					1.75199e-13	2.45373e-13	1	1	0
FAM46D	169966	broad.mit.edu	37	X	79698639	79698639	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:79698639G>T	ENST00000538312.1	+	5	935	c.601G>T	c.(601-603)Gtt>Ttt	p.V201F	FAM46D_ENST00000308293.5_Missense_Mutation_p.V201F	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	201								p.V201L(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ATCCTATCCTGTTGTGGTAGC	0.403000													13	34					9.31168e-06	1.07555e-05	1	1	0
ABCD2	225	broad.mit.edu	37	12	39994400	39994400	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:39994400G>T	ENST00000308666.3	-	6	1754	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	540	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CATATGTTGAGGAGGTGGTTT	0.373000													31	68					1.30897e-18	1.99057e-18	1	1	0
GNPTAB	79158	broad.mit.edu	37	12	102183814	102183814	+	Silent	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:102183814A>T	ENST00000299314.7	-	3	487	c.225T>A	c.(223-225)atT>atA	p.I75I	GNPTAB_ENST00000549940.1_Silent_p.I75I	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	75					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AAACAACGTCAATCGGCATGG	0.428000													23	143					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997665	72997665	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr18:72997665G>T	ENST00000322038.5	+	2	752	c.168G>T	c.(166-168)caG>caT	p.Q56H	TSHZ1_ENST00000580243.1_Missense_Mutation_p.Q101H	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGGATCCGCAGTGTCCCGACA	0.582000													6	17					0.00116845	0.00125382	1	1	0
BBS10	79738	broad.mit.edu	37	12	76740950	76740950	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:76740950C>T	ENST00000393262.3	-	2	898	c.815G>A	c.(814-816)gGa>gAa	p.G272E		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	272					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AAACTCTGATCCAGAAGTGGA	0.373000									Bardet-Biedl syndrome				7	31					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133554257	133554257	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:133554257A>G	ENST00000409261.1	-	12	1226	c.853T>C	c.(853-855)Tca>Cca	p.S285P	NCKAP5_ENST00000405974.3_Missense_Mutation_p.S285P|NCKAP5_ENST00000409213.1_Missense_Mutation_p.S285P|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S285P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	285							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCCACCTCTGAAAGCAAATCT	0.408000													4	14					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616867	1616867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:1616867G>A	ENST00000381580.1	-	3	795	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.R239C|SIRPG_ENST00000303415.3_Missense_Mutation_p.R239C|SIRPG_ENST00000216927.4_Missense_Mutation_p.R239C			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	239	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GCAGTCCCACGAAGAGGGTCC	0.647000													14	44					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395331	76395331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr13:76395331G>T	ENST00000357063.3	+	15	3642	c.2382G>T	c.(2380-2382)aaG>aaT	p.K794N	LMO7_ENST00000465261.2_Missense_Mutation_p.K509N|LMO7_ENST00000526202.1_Missense_Mutation_p.K359N|LMO7_ENST00000341547.4_Missense_Mutation_p.K460N|LMO7_ENST00000321797.8_Missense_Mutation_p.K509N|LMO7_ENST00000377534.3_Missense_Mutation_p.K794N			Q8WWI1	LMO7_HUMAN	LIM domain 7	794						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAATCAAAAGTCTACAGTTC	0.443000													16	26					1.99824e-07	2.41102e-07	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497411	1497411	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:1497411C>T	ENST00000421627.2	+	2	686	c.552C>T	c.(550-552)gaC>gaT	p.D184D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	263					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCGGGCGGACGACCACCACC	0.662000													3	7					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2552861	2552861	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:2552861C>T	ENST00000358864.1	+	5	606	c.591C>T	c.(589-591)gcC>gcT	p.A197A		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	197	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGAAGGTGCCTTGGGAAAGG	0.478000													13	33					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569181	55569181	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:55569181G>T	ENST00000395445.1	-	36	5023	c.4629C>A	c.(4627-4629)gcC>gcA	p.A1543A	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Silent_p.A477A|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Silent_p.A408A|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395446.1_Silent_p.A739A|PCDH15_ENST00000414778.1_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAATATTCTGGCTCTCTTCC	0.433000										HNSCC(58;0.16)			57	67					9.55421e-19	1.45723e-18	1	1	0
NDRG3	57446	broad.mit.edu	37	20	35310973	35310973	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:35310973C>A	ENST00000373803.2	-	7	448	c.392G>T	c.(391-393)aGc>aTc	p.S131I	NDRG3_ENST00000540765.1_Missense_Mutation_p.S27I|NDRG3_ENST00000373773.3_Missense_Mutation_p.S36I|NDRG3_ENST00000359675.2_Missense_Mutation_p.S119I|NDRG3_ENST00000349004.1_Missense_Mutation_p.S131I			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	131					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TCCAATGATGCTTTTCAGGCT	0.453000													7	89					0.0293803	0.0299633	1	1	0
DGKE	8526	broad.mit.edu	37	17	54921473	54921473	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:54921473C>A	ENST00000284061.3	+	3	738	c.558C>A	c.(556-558)atC>atA	p.I186I	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	186					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AAAACCTAATCATTCCACCAA	0.308000													13	44					0.00010058	0.00011094	1	1	0
R3HCC1L	27291	broad.mit.edu	37	10	99968011	99968011	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:99968011T>C	ENST00000298999.3	+	5	443	c.140T>C	c.(139-141)gTg>gCg	p.V47A	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.V47A	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		AACTCTGTGGTGAAAGAAAAG	0.423000													13	89					0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149463229	149463229	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:149463229G>C	ENST00000302017.3	-	5	775	c.362C>G	c.(361-363)cCc>cGc	p.P121R	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCGGGAAAGGGGCTGGGAAG	0.642000													5	31					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114257896	114257896	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:114257896G>T	ENST00000357077.4	+	31	3808	c.3755G>T	c.(3754-3756)gGg>gTg	p.G1252V	ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000394537.3_Missense_Mutation_p.G1252V|ANK2_ENST00000264366.6_Missense_Mutation_p.G1219V|ANK2_ENST00000509550.1_Missense_Mutation_p.G428V|ANK2_ENST00000506722.1_Missense_Mutation_p.G1243V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1219					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATGGTTTTGGGGGAGATGCA	0.398000													6	54					1.6384e-10	2.17607e-10	1	1	0
SHROOM4	57477	broad.mit.edu	37	X	50378222	50378222	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:50378222T>A	ENST00000376020.2	-	4	876	c.851A>T	c.(850-852)cAg>cTg	p.Q284L	SHROOM4_ENST00000289292.7_Missense_Mutation_p.Q284L|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q168L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	284					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTGGAGGCCTGAAGGCTGTC	0.607000													5	10					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762522	131762522	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:131762522T>C	ENST00000370836.2	-	4	1962	c.1547A>G	c.(1546-1548)gAa>gGa	p.E516G	HS6ST2_ENST00000370833.2_Missense_Mutation_p.E410G|HS6ST2_ENST00000521489.1_Missense_Mutation_p.E556G|HS6ST2_ENST00000370837.1_Missense_Mutation_p.E370G|HS6ST2_ENST00000406696.3_Missense_Mutation_p.E242G	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	516						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTTGCGTTGTTCCTGACGCTT	0.498000													7	71					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661108	4661108	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:4661108C>A	ENST00000357605.2	+	1	164	c.88C>A	c.(88-90)Cct>Act	p.P30T		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGGGTATCCCTGGCCTGGG	0.512000													23	82					1.96895e-08	2.44454e-08	1	1	0
ERBB3	2065	broad.mit.edu	37	12	56488258	56488258	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:56488258G>T	ENST00000267101.3	+	15	2217	c.1777G>T	c.(1777-1779)Gtc>Ttc	p.V593F	ERBB3_ENST00000415288.2_Missense_Mutation_p.V534F|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	593					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCCCCATGGAGTCCTAGGTGC	0.537000													41	66					1.96642e-18	2.97276e-18	1	1	0
KCNC2	3747	broad.mit.edu	37	12	75444328	75444328	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:75444328T>C	ENST00000549446.1	-	3	2137	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	KCNC2_ENST00000350228.2_Missense_Mutation_p.K486R|KCNC2_ENST00000341669.3_Missense_Mutation_p.K486R|KCNC2_ENST00000298972.1_Missense_Mutation_p.K486R|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000540018.1_Missense_Mutation_p.K486R|KCNC2_ENST00000548513.1_Missense_Mutation_p.K486R|KCNC2_ENST00000393288.2_Missense_Mutation_p.K486R|KCNC2_ENST00000550433.1_Missense_Mutation_p.K486R	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	486					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AAGTTTCTGCTTTGCCATTGC	0.468000													14	65					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43214426	43214426	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:43214426G>A	ENST00000259750.4	+	2	111	c.28G>A	c.(28-30)Gac>Aac	p.D10N		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	10						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CGCCCTTAAGGACGAAACCAA	0.672000													4	28					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25565501	25565501	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr18:25565501G>T	ENST00000269141.3	-	12	2389	c.1966C>A	c.(1966-1968)Cgg>Agg	p.R656R	CDH2_ENST00000399380.3_Silent_p.R625R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	656	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCATTAAGCCGAGTGATGGTC	0.343000													11	26					1.58986e-06	1.85725e-06	1	1	0
CLEC2B	9976	broad.mit.edu	37	12	10010107	10010107	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:10010107G>A	ENST00000228438.2	-	3	1136	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	68	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						AGTTAGGTCGGCATGTTGAGT	0.323000													7	38					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911385	88911385	+	Silent	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:88911385C>G	ENST00000263321.5	+	1	766	c.264C>G	c.(262-264)acC>acG	p.T88T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	88					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ATAATAGGACCTGCCAGTGCT	0.502000													15	34					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10093088	10093088	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:10093088C>A	ENST00000380861.4	+	14	2242	c.1851C>A	c.(1849-1851)ctC>ctA	p.L617L	WWC3_ENST00000454666.1_Silent_p.L617L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	617	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCGAGTGTCTCCTCGTGCACG	0.612000													6	18					0.00198382	0.00210678	1	1	0
SHROOM2	357	broad.mit.edu	37	X	9900402	9900402	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:9900402C>A	ENST00000380913.3	+	6	3169	c.3079C>A	c.(3079-3081)Cca>Aca	p.P1027T	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1027					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGAGAGCACCCCAGCAGACTT	0.657000													5	22					0.184627	0.184987	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55659000	55659000	+	Silent	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:55659000T>C	ENST00000449290.2	+	7	1343	c.1251T>C	c.(1249-1251)ggT>ggC	p.G417G	TRIM51_ENST00000244891.3_Silent_p.G274G	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	417	B30.2/SPRY.					intracellular	zinc ion binding										ATTGTGAAGGTAGAACCGTGA	0.473000													50	87					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767170	23767170	+	Missense_Mutation	SNP	G	G	A	rs147617371	byFrequency	TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:23767170G>A	ENST00000300113.2	+	3	566	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	48	EF-hand 1.						calcium ion binding	p.R48H(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CTTTGCAGCCGCATGGATCTC	0.567000													5	38					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113349847	113349847	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:113349847A>T	ENST00000297405.5	-	43	7010	c.6766T>A	c.(6766-6768)Tta>Ata	p.L2256I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2186I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2216I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2152I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2256	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCCAATTAATGTGTATCCT	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	72					0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41186932	41186932	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:41186932C>A	ENST00000252891.4	-	6	597	c.430G>T	c.(430-432)Gtc>Ttc	p.V144F	NUMBL_ENST00000540131.1_Missense_Mutation_p.V103F|NUMBL_ENST00000598779.1_Missense_Mutation_p.V103F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	144	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAAAAGGAGACCTTTTCGATG	0.537000													197	131					2.07956e-100	3.55113e-100	1	1	0
MAP3K12	7786	broad.mit.edu	37	12	53876679	53876679	+	Silent	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:53876679G>C	ENST00000267079.2	-	12	2034	c.1809C>G	c.(1807-1809)ctC>ctG	p.L603L	MAP3K12_ENST00000547035.1_Silent_p.L636L|MAP3K12_ENST00000547488.1_Silent_p.L636L	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	603					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ACATTTTGCGGAGCAGGAGGT	0.682000													10	50					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159188461	159188461	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:159188461G>A	ENST00000367075.3	-	13	1596	c.1428C>T	c.(1426-1428)ccC>ccT	p.P476P	EZR_ENST00000337147.7_Silent_p.P476P|EZR_ENST00000392177.4_Silent_p.P444P	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	476	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTCGTACACGGGGGGTGGTG	0.622000			T	ROS1	NSCLC								8	99					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30726162	30726162	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:30726162G>C	ENST00000361762.2	+	1	4126	c.3118G>C	c.(3118-3120)Gga>Cga	p.G1040R	PCDH7_ENST00000543491.1_Missense_Mutation_p.G1040R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1040					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CATTTCAATTGGATCAGATCA	0.443000													6	30					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999167	20999167	+	Nonsense_Mutation	SNP	C	C	A	rs139680994		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:20999167C>A	ENST00000261383.3	-	46	6729	c.6730G>T	c.(6730-6732)Gga>Tga	p.G2244*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2244	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCATCTTTCCGTACCTTGGG	0.493000													11	38					6.40141e-05	7.13736e-05	1	1	0
ARHGAP1	392	broad.mit.edu	37	11	46702065	46702065	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:46702065C>A	ENST00000311956.4	-	9	889	c.792G>T	c.(790-792)agG>agT	p.R264S		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	264	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		CAACAGTCTCCCTGAGTACAA	0.652000													9	36					1.58986e-06	1.85725e-06	1	1	0
SLC9A7	84679	broad.mit.edu	37	X	46466492	46466492	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:46466492C>T	ENST00000328306.4	-	17	2098	c.2073G>A	c.(2071-2073)acG>acA	p.T691T	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	691					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGCTGCTCTTCGTTCTCCGGC	0.597000													10	44					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15118634	15118634	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:15118634G>A	ENST00000253699.3	-	12	1649	c.1036C>T	c.(1036-1038)Cca>Tca	p.P346S	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.P346S	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	346	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGATGTGGTGGAGGGTCCTGG	0.443000													9	60					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6597461	6597461	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:6597461G>A	ENST00000433363.2	-	8	1344	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	SLC13A5_ENST00000573648.1_Missense_Mutation_p.P371S|SLC13A5_ENST00000381074.4_Missense_Mutation_p.P328S|SLC13A5_ENST00000293800.6_Missense_Mutation_p.P354S	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	371						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TTCTGTGAAGGCACAATGAAT	0.532000													10	26					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29275181	29275181	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:29275181T>A	ENST00000377160.2	+	1	779	c.715T>A	c.(715-717)Tgc>Agc	p.C239S		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTTCTCCACCTGCCTACCACA	0.478000													28	144					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20778631	20778631	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:20778631G>T	ENST00000404938.2	+	24	3545	c.2893G>T	c.(2893-2895)Gct>Tct	p.A965S	ABCB5_ENST00000258738.6_Missense_Mutation_p.A520S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	520					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGCATATGGAGCTATGGCCAT	0.393000													9	21					1.76689e-08	2.19899e-08	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140672429	140672429	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:140672429G>T	ENST00000460843.1	+	13	2141	c.2114G>T	c.(2113-2115)gGg>gTg	p.G705V	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.G674V|EHMT1_ENST00000462484.1_Missense_Mutation_p.G705V	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	705					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCTGGGCTTGGGAGGCCAACT	0.617000													25	49					5.35356e-11	7.12883e-11	1	1	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011792	46011792	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr21:46011792C>T	ENST00000400368.1	-	1	594	c.574G>A	c.(574-576)Gag>Aag	p.E192K	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	192	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGGCTGGGCTCACAGACCGCC	0.642000													32	121					0	0	1	0	0
DNASE2	1777	broad.mit.edu	37	19	12989241	12989241	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:12989241C>A	ENST00000222219.3	-	5	756	c.664G>T	c.(664-666)Ggg>Tgg	p.G222W	DNASE2_ENST00000538460.1_Missense_Mutation_p.G167W	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	222					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AAAACAGCCCCGGCCTGGGAT	0.542000													25	54					7.92952e-12	1.06976e-11	1	1	0
INTS1	26173	broad.mit.edu	37	7	1519139	1519139	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:1519139C>G	ENST00000389470.4	-	32	4852	c.4853G>C	c.(4852-4854)gGt>gCt	p.G1618A	INTS1_ENST00000404767.3_Missense_Mutation_p.G1419A			Q8N201	INT1_HUMAN	integrator complex subunit 1	1419					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACCAGGGCACCGCCGTGTGG	0.711000													5	2					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82366678	82366678	+	Splice_Site	SNP	A	A	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:82366678A>C	ENST00000509081.1	-	8	1147		c.e8+1		RASGEF1B_ENST00000335927.7_Splice_Site|RASGEF1B_ENST00000264400.2_Splice_Site			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CAAAATACTCACAGATTATCG	0.368000													5	76					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92564951	92564951	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:92564951C>A	ENST00000298047.6	+	13	9662	c.9645C>A	c.(9643-9645)tcC>tcA	p.S3215S	FAT3_ENST00000409404.2_Silent_p.S3215S|FAT3_ENST00000525166.1_Silent_p.S3065S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3215	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGGACAGTCCCTGTCCTCTC	0.567000										TCGA Ovarian(4;0.039)			5	16					5.9392e-07	7.05023e-07	1	1	0
PMFBP1	83449	broad.mit.edu	37	16	72164250	72164250	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:72164250C>T	ENST00000537465.1	-	12	1817	c.1659G>A	c.(1657-1659)cgG>cgA	p.R553R	PMFBP1_ENST00000355636.6_Silent_p.R403R|PMFBP1_ENST00000237353.10_Silent_p.R548R			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	553										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCTCCTCCACCCGTTTTCTAA	0.498000													14	22					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155572114	155572114	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:155572114C>T	ENST00000461783.3	+	24	5292	c.4019C>T	c.(4018-4020)tCt>tTt	p.S1340F	TIAM2_ENST00000367174.2_Missense_Mutation_p.S716F|TIAM2_ENST00000318981.5_Missense_Mutation_p.S1340F|TIAM2_ENST00000456877.2_Missense_Mutation_p.S652F|TIAM2_ENST00000360366.4_Missense_Mutation_p.S1364F|TIAM2_ENST00000456144.1_Missense_Mutation_p.S1369F|TIAM2_ENST00000528391.2_Missense_Mutation_p.S676F|TIAM2_ENST00000275246.7_Missense_Mutation_p.S265F|TIAM2_ENST00000529824.2_Missense_Mutation_p.S1369F			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1340					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCATTTCTGTCTCTAGGAAAA	0.423000													21	81					0	0	1	0	0
SLC30A7	148867	broad.mit.edu	37	1	101362157	101362157	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:101362157C>T	ENST00000370112.4	+	2	299	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	SLC30A7_ENST00000357650.4_Silent_p.L38L	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	38					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TTCCCGGAACCTGTTTTTCTT	0.532000													4	38					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994336	45994336	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr21:45994336G>A	ENST00000400374.3	+	1	731	c.701G>A	c.(700-702)tGc>tAc	p.C234Y	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	234	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCCGTCTGCTGCAAGACTGTC	0.642000													33	105					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56865571	56865571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:56865571G>T	ENST00000257287.4	+	16	2237	c.2113G>T	c.(2113-2115)Gag>Tag	p.E705*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	705					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TAAAATACTGGAGGAAAAGAT	0.343000													10	42					0.000673444	0.000725682	1	1	0
GPR160	26996	broad.mit.edu	37	3	169802237	169802237	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:169802237C>T	ENST00000355897.5	+	4	1085	c.477C>T	c.(475-477)gcC>gcT	p.A159A		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	159						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAGACCCAGCCATCTACCAAA	0.358000													15	37					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331316	85331316	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:85331316G>A	ENST00000440886.1	-	1	526	c.488C>T	c.(487-489)cCc>cTc	p.P163L	LPAR3_ENST00000370611.3_Missense_Mutation_p.P163L|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	163					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GCCCAGTGTGGGGACCGCCCC	0.532000													8	126					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53191318	53191318	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:53191318G>C	ENST00000566029.1	+	2	1526	c.1317G>C	c.(1315-1317)caG>caC	p.Q439H	CHD9_ENST00000398510.3_Missense_Mutation_p.Q439H|CHD9_ENST00000447540.1_Missense_Mutation_p.Q439H|CHD9_ENST00000564845.1_Missense_Mutation_p.Q439H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	439					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTGATCGGCAGTTTACTTCGC	0.448000													7	32					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34549906	34549906	+	Silent	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr15:34549906T>C	ENST00000354181.3	-	6	1119	c.627A>G	c.(625-627)acA>acG	p.T209T	SLC12A6_ENST00000560164.1_Intron|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000560611.1_Silent_p.T209T|SLC12A6_ENST00000458406.2_Silent_p.T150T|SLC12A6_ENST00000397702.2_Silent_p.T150T|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000397707.2_Silent_p.T194T|SLC12A6_ENST00000290209.5_Silent_p.T158T|SLC12A6_ENST00000558589.1_Silent_p.T200T|SLC12A6_ENST00000558667.1_Silent_p.T209T			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	209					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCACCACCCATGTAAGGCGTA	0.463000													10	28					0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46804356	46804356	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:46804356G>A	ENST00000290295.7	-	2	1235	c.651C>T	c.(649-651)cgC>cgT	p.R217R		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	217					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						TGCGTTTCTTGCGGCCGCGAC	0.617000													32	68					0	0	1	0	0
TMEM110	375346	broad.mit.edu	37	3	52877746	52877746	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:52877746G>C	ENST00000355083.5	-	6	754	c.609C>G	c.(607-609)ttC>ttG	p.F203L	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.F203L	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		CGTTGACAAAGAAGGGGACGA	0.502000													7	73					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	102992415	102992415	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:102992415A>T	ENST00000409599.1	+	6	873	c.517A>T	c.(517-519)Aag>Tag	p.K173*	IL18R1_ENST00000233957.1_Nonsense_Mutation_p.K173*			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	173	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AACGATAAAGAAGAACGCCGA	0.308000													7	32					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077040	19077040	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:19077040G>A	ENST00000329773.2	-	2	997	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	304					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATGTCCTGCAGAGCCCTCTGG	0.562000													42	59					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018598	101018598	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:101018598C>G	ENST00000537247.1	+	10	2657	c.1703C>G	c.(1702-1704)cCt>cGt	p.P568R	GAS2L3_ENST00000539410.1_Missense_Mutation_p.P672R|GAS2L3_ENST00000547754.1_Missense_Mutation_p.P672R|GAS2L3_ENST00000266754.5_Missense_Mutation_p.P672R			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	672					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GATAAAAAACCTACTGCAAAG	0.373000													13	99					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347364	91347364	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:91347364G>T	ENST00000358859.2	-	1	1589	c.1156C>A	c.(1156-1158)Cca>Aca	p.P386T	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		ATCTGCTCTGGGTTTAAAAAA	0.418000													8	83					1.12685e-05	1.29575e-05	1	1	0
OR52R1	119695	broad.mit.edu	37	11	4825512	4825512	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:4825512C>A	ENST00000380382.1	-	1	335	c.336G>T	c.(334-336)ccG>ccT	p.P112P	OR52R1_ENST00000356069.2_Silent_p.P33P|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACAGAACGGAAAGGCAA	0.512000													10	37					1.76689e-08	2.19899e-08	1	1	0
BTN3A2	11118	broad.mit.edu	37	6	26370792	26370792	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:26370792C>T	ENST00000356386.2	+	5	864	c.676C>T	c.(676-678)Ctc>Ttc	p.L226F	BTN3A2_ENST00000396948.1_Missense_Mutation_p.L226F|BTN3A2_ENST00000508906.2_Missense_Mutation_p.L184F|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Missense_Mutation_p.L226F|BTN3A2_ENST00000396934.3_Missense_Mutation_p.L203F|BTN3A2_ENST00000377708.2_Missense_Mutation_p.L226F	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	226						integral to membrane		p.L226I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CAGAAATTCCCTCCTCGGCCT	0.542000													19	106					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196205186	196205186	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:196205186G>T	ENST00000367433.5	-	26	3255	c.3154C>A	c.(3154-3156)Cat>Aat	p.H1052N	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.H1076N|KCNT2_ENST00000367431.4_Missense_Mutation_p.H1010N|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1076						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTACTTTGATGATCATTCATT	0.328000													58	157					3.76997e-23	6.03665e-23	1	1	0
RBM10	8241	broad.mit.edu	37	X	47041372	47041372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:47041372C>A	ENST00000377604.3	+	16	2458	c.1716C>A	c.(1714-1716)taC>taA	p.Y572*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.Y495*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Y494*|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	572	Tyr-rich.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCTCTACCTACCAGTACGATG	0.582000													16	47					3.41278e-10	4.49787e-10	1	1	0
SLC25A24	29957	broad.mit.edu	37	1	108700153	108700153	+	Silent	SNP	T	T	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:108700153T>G	ENST00000565488.1	-	5	819	c.600A>C	c.(598-600)gcA>gcC	p.A200A	SLC25A24_ENST00000370041.4_Silent_p.A181A	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	200					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CAATGCCTCCTGCCAAAAGCT	0.463000													42	43					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132047	59132047	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:59132047C>A	ENST00000313940.2	+	1	163	c.116C>A	c.(115-117)tCt>tAt	p.S39Y		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TACATTACATCTCTGGCCTGG	0.408000													37	106					3.21399e-22	5.11453e-22	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21706505	21706505	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:21706505C>A	ENST00000281523.2	-	2	556	c.38G>T	c.(37-39)aGt>aTt	p.S13I	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	13						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAGAGCAGGACTCTGGCATGT	0.512000													8	15					0.00307968	0.00324376	1	1	0
LOC440040	440040	broad.mit.edu	37	11	49830100	49830100	+	RNA	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:49830100G>T	ENST00000527477.1	+	0	1431																											AAGTGAGTCCGTGCTGCTGCA	0.448000													8	15					0.000274275	0.000299315	1	1	0
CCDC180	100499483	broad.mit.edu	37	9	100090317	100090317	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:100090317C>A	ENST00000375202.2	+	30	3161	c.1809C>A	c.(1807-1809)caC>caA	p.H603Q	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.H742Q|CCDC180_ENST00000411667.2_Missense_Mutation_p.H600Q|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.H603Q|CCDC180_ENST00000395220.1_3'UTR					coiled-coil domain containing 180																		AATGTTTTCACACCCTCCTGA	0.517000													15	103					2.32078e-09	2.98221e-09	1	1	0
TIAM2	26230	broad.mit.edu	37	6	155451540	155451540	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:155451540A>T	ENST00000461783.3	+	6	2456	c.1183A>T	c.(1183-1185)Agg>Tgg	p.R395W	TIAM2_ENST00000367174.2_De_novo_Start_InFrame|TIAM2_ENST00000318981.5_Missense_Mutation_p.R395W|TIAM2_ENST00000360366.4_Missense_Mutation_p.R395W|TIAM2_ENST00000456144.1_Missense_Mutation_p.R395W|TIAM2_ENST00000529824.2_Missense_Mutation_p.R395W			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	395					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAGGAAGAAAAGGAAACTCCA	0.532000													17	23					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53225191	53225191	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:53225191C>T	ENST00000452825.3	-	18	3358	c.2826G>A	c.(2824-2826)gcG>gcA	p.A942A	KDM5C_ENST00000404049.3_Silent_p.A1008A|KDM5C_ENST00000375379.3_Silent_p.A1009A|KDM5C_ENST00000375383.3_Silent_p.A968A|KDM5C_ENST00000375401.3_Silent_p.A1009A	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1009					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGATGTTTTCCGCTTCACGGA	0.522000			"""N, F, S"""		clear cell renal carcinoma								9	28					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18389530	18389530	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr22:18389530C>G	ENST00000441493.2	-	2	401	c.49G>C	c.(49-51)Gac>Cac	p.D17H	MICAL3_ENST00000429452.1_Missense_Mutation_p.D17H|MICAL3_ENST00000207726.7_Missense_Mutation_p.D17H|MICAL3_ENST00000400561.2_Missense_Mutation_p.D17H|MICAL3_ENST00000414725.2_Missense_Mutation_p.D17H|MICAL3_ENST00000444520.1_Missense_Mutation_p.D17H|MICAL3_ENST00000585038.1_Missense_Mutation_p.D17H|MICAL3_ENST00000383094.3_Missense_Mutation_p.D17H	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	17						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ACAAACCGGTCAAAGAGGACA	0.577000													9	113					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61089773	61089773	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:61089773C>A	ENST00000301764.7	-	9	1514	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	373	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTTACCTGCCCCTGCCCCTGC	0.502000								Nucleotide excision repair (NER)					21	60					2.89027e-11	3.86874e-11	1	1	0
FUT11	170384	broad.mit.edu	37	10	75532748	75532748	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:75532748C>G	ENST00000372841.3	+	1	700	c.657C>G	c.(655-657)gaC>gaG	p.D219E	FUT11_ENST00000394790.1_Missense_Mutation_p.D219E|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	219					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CACACTGCGACGTGCCAGCGG	0.716000													4	11					0	0	1	0	0
ZNF571	51276	broad.mit.edu	37	19	38055979	38055979	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:38055979C>T	ENST00000328550.2	-	4	1450	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.E451K|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.E451K|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.E451K|ZNF571-AS1_ENST00000591430.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCCACATTCCTTACATTCA	0.378000													9	162					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559062	129559062	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:129559062G>A	ENST00000422113.2	-	9	2984	c.2658C>T	c.(2656-2658)acC>acT	p.T886T	TMEM132D_ENST00000389441.4_Silent_p.T424T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	886						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGGGAAGCTGGTGAGGTCGC	0.552000													15	79					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869690	22869690	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr22:22869690G>T	ENST00000302097.3	-	2	517	c.265C>A	c.(265-267)Cct>Act	p.P89T		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGATTTGCAGGCTGCGACACG	0.473000													22	122					1.85244e-09	2.38635e-09	1	1	0
GOLGA2P9	440518	broad.mit.edu	37	19	22784240	22784240	+	RNA	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:22784240C>A	ENST00000600260.1	+	0	674					NR_033899.1																						GAGGAAGGTACGGGAGATCAC	0.592000													4	10					0.014758	0.0152936	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140723658	140723658	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:140723658C>A	ENST00000253812.6	+	1	58	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCGCTCCTGGGGACGCT	0.542000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	83					7.91745e-34	1.33428e-33	1	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70713858	70713858	+	RNA	SNP	T	T	C	rs61979492	by1000genomes	TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr14:70713858T>C	ENST00000530196.1	-	0	660					NR_003951.1																						TCTGTTAAGCTACATCTCATA	0.448000													4	39					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2321999	2321999	+	Splice_Site	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:2321999C>A	ENST00000290974.2	-	7	1041		c.e7-1		ZFYVE28_ENST00000511071.1_Splice_Site|ZFYVE28_ENST00000515312.1_Splice_Site	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28						negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CACGAGGCCACTGCATTTGAG	0.607000													7	22					3.09899e-07	3.70437e-07	1	1	0
POTEG	404785	broad.mit.edu	37	14	19566019	19566019	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr14:19566019C>A	ENST00000409832.3	+	6	1115	c.1063C>A	c.(1063-1065)Cag>Aag	p.Q355K	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	355										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TAGAATTTGCCAGTTACTTTC	0.264000													11	110					1.58986e-06	1.85725e-06	1	1	0
GPR179	440435	broad.mit.edu	37	17	36484267	36484267	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:36484267T>G	ENST00000342292.4	-	11	5205	c.5185A>C	c.(5185-5187)Aat>Cat	p.N1729H	GPR179_ENST00000584976.1_5'UTR	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1729						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTGTATCATTTGGAGATTTC	0.552000													27	61					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122250777	122250777	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:122250777T>A	ENST00000394427.2	-	6	1399	c.988A>T	c.(988-990)Att>Ttt	p.I330F	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	330						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GCATAGACAATGGGATTACAG	0.318000													4	31					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338349	13338349	+	RNA	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:13338349C>A	ENST00000602906.1	+	0	367																				kidney(3)|lung(1)	4						TACTCAGGAACATACCCTGAC	0.433000													11	35					7.03913e-09	8.9116e-09	1	1	0
ANK2	287	broad.mit.edu	37	4	114257895	114257895	+	Missense_Mutation	SNP	G	G	A	rs73841964		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:114257895G>A	ENST00000357077.4	+	31	3807	c.3754G>A	c.(3754-3756)Ggg>Agg	p.G1252R	ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000394537.3_Missense_Mutation_p.G1252R|ANK2_ENST00000264366.6_Missense_Mutation_p.G1219R|ANK2_ENST00000509550.1_Missense_Mutation_p.G428R|ANK2_ENST00000506722.1_Missense_Mutation_p.G1243R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1219					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAATGGTTTTGGGGGAGATGC	0.398000													6	53					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407553	55407553	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:55407553C>T	ENST00000341048.4	-	10	1173	c.1022G>A	c.(1021-1023)aGa>aAa	p.R341K	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Missense_Mutation_p.R53K|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R298K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	340										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTTGAACCGTCTCTCCTTCTT	0.507000													38	77					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123658377	123658377	+	Silent	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:123658377G>C	ENST00000369043.3	-	7	1007	c.921C>G	c.(919-921)ccC>ccG	p.P307P	ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_Silent_p.P211P|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Silent_p.P300P|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000535655.1_Intron	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	307					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CACATTCATCGGGTGGATCCT	0.423000													9	73					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260721	30260721	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:30260721C>G	ENST00000378982.2	+	1	665	c.469C>G	c.(469-471)Cgc>Ggc	p.R157G		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	157	MAGE.							p.R157C(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGTCTCTCAGCGCACGGAGCT	0.502000													14	27					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909461	156909461	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:156909461C>A	ENST00000368194.3	-	37	5014	c.3975G>T	c.(3973-3975)ctG>ctT	p.L1325L	ARHGEF11_ENST00000315174.8_Silent_p.L701L|ARHGEF11_ENST00000361409.2_Silent_p.L1285L|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1285					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTAGGTGTTCCAGAGAACAGA	0.592000													18	27					9.16793e-09	1.15498e-08	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153029906	153029906	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:153029906G>A	ENST00000285900.5	+	4	820	c.477G>A	c.(475-477)caG>caA	p.Q159Q	GRIA1_ENST00000518783.1_Silent_p.Q169Q|GRIA1_ENST00000521843.2_Silent_p.Q90Q|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518142.1_Silent_p.Q79Q|GRIA1_ENST00000448073.4_Silent_p.Q169Q|GRIA1_ENST00000340592.5_Silent_p.Q159Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	159					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGTCCTGCAGAAAGTCCTGG	0.517000													26	49					0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842893	22842893	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr22:22842893C>T	ENST00000360412.2	-	4	1606	c.831G>A	c.(829-831)aaG>aaA	p.K277K	ZNF280B_ENST00000406426.1_Silent_p.K277K	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATTTTCTTTCTTGGGATCAA	0.378000													17	97					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60898908	60898908	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:60898908C>A	ENST00000252999.3	-	44	5839	c.5773G>T	c.(5773-5775)Gcc>Tcc	p.A1925S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1925	Laminin EGF-like 18.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCCCTCGGCGAAGCTGCAA	0.692000													10	4					0.010729	0.0111634	1	1	0
BASP1	10409	broad.mit.edu	37	5	17275901	17275901	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:17275901G>A	ENST00000322611.3	+	2	836	c.576G>A	c.(574-576)gcG>gcA	p.A192A		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	192					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCACGGAAGCGCCTAGTTCCA	0.657000													4	48					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55583015	55583015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:55583015C>A	ENST00000361849.3	-	34	4871	c.4477G>T	c.(4477-4479)Gag>Tag	p.E1493*	PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E1491*|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1488*|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1422*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1451*|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1468*	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1491					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTGAGCCTCAATAGTATTG	0.398000										HNSCC(58;0.16)			23	38					2.98393e-07	3.5919e-07	1	1	0
ZSCAN21	7589	broad.mit.edu	37	7	99661464	99661464	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:99661464G>C	ENST00000292450.4	+	4	810	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E216Q|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E216Q|ZSCAN21_ENST00000477297.1_Intron	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	216					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAAAGGTTCTGAAGCAGAGGG	0.428000													8	63					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127395387	127395387	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:127395387C>T	ENST00000468137.1	+	5	679	c.63C>T	c.(61-63)ccC>ccT	p.P21P	ABTB1_ENST00000453791.2_Silent_p.P21P|ABTB1_ENST00000393363.3_Silent_p.P21P|ABTB1_ENST00000232744.8_Silent_p.P163P			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	163						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						AGATCAACCCCGTGGCCTTTG	0.602000													26	70					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122818586	122818586	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:122818586C>G	ENST00000358808.2	-	13	2819	c.2665G>C	c.(2665-2667)Gaa>Caa	p.E889Q	CLIP1_ENST00000540338.1_Missense_Mutation_p.E900Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.E854Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.E889Q|CLIP1_ENST00000361654.4_Missense_Mutation_p.E778Q|CLIP1_ENST00000545889.1_Missense_Mutation_p.E475Q	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	900					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCTAAGTTTTCTCTCAGCTTC	0.343000													5	33					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19591290	19591290	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:19591290G>T	ENST00000507958.1	-	9	1865	c.875C>A	c.(874-876)gCa>gAa	p.A292E	CDH18_ENST00000511273.1_Missense_Mutation_p.A292E|CDH18_ENST00000382275.1_Missense_Mutation_p.A292E|CDH18_ENST00000274170.4_Missense_Mutation_p.A292E|CDH18_ENST00000502796.1_Missense_Mutation_p.A292E|CDH18_ENST00000506372.1_Missense_Mutation_p.A292E			Q13634	CAD18_HUMAN	cadherin 18, type 2	292	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGCATCATTTGCCTTGATTTT	0.393000													57	54					1.19403e-26	1.96081e-26	1	1	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108563	90108563	+	RNA	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:90108563C>A	ENST00000390271.2	+	0	60																											GCGGCTTCTGCTCCTCTGGGT	0.403000													16	36					2.23348e-06	2.59731e-06	1	1	0
SPSB4	92369	broad.mit.edu	37	3	140866057	140866057	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:140866057C>G	ENST00000310546.2	+	3	1512	c.768C>G	c.(766-768)gaC>gaG	p.D256E	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	256	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCTGCAGGACATCAGCTCCC	0.622000													9	29					0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116130561	116130561	+	Silent	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:116130561T>C	ENST00000374183.4	+	5	619	c.580T>C	c.(580-582)Ttg>Ctg	p.L194L	BSPRY_ENST00000462085.1_Intron	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	194					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AGAGGGCATTTTGGATCCCCA	0.478000													19	65					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10796246	10796246	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:10796246G>A	ENST00000313243.2	-	9	1510	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V	MAK_ENST00000474039.1_Silent_p.V376V|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Silent_p.V376V|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Silent_p.V376V|MAK_ENST00000536370.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	376					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCATGTTTTTGACGATGCTCG	0.468000													15	148					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8417514	8417514	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:8417514G>T	ENST00000356406.5	-	3	434	c.357C>A	c.(355-357)gcC>gcA	p.A119A	ACOX3_ENST00000503233.1_Silent_p.A119A|ACOX3_ENST00000413009.2_Silent_p.A119A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	119					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGAGGTACTTGGCAGCCAGAG	0.567000													4	30					0.184627	0.184987	1	1	0
CTSV	1515	broad.mit.edu	37	9	99798888	99798888	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:99798888C>G	ENST00000259470.5	-	5	787	c.538G>C	c.(538-540)Ggt>Cgt	p.G180R	CTSV_ENST00000538255.1_Missense_Mutation_p.G180R	NM_001333.3	NP_001324.2			cathepsin V																		ATGAAGCCACCATTGCAGCCC	0.512000													5	45					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119344081	119344081	+	Splice_Site	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:119344081T>A	ENST00000273371.4	+	9	1193		c.e9+2		PLA1A_ENST00000495992.1_Splice_Site|PLA1A_ENST00000494440.1_Splice_Site|PLA1A_ENST00000488919.1_Splice_Site	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A						lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATCACCATGTACGTAAGTGT	0.463000													16	34					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19115173	19115173	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:19115173C>A	ENST00000601879.1	-	7	3030	c.2733G>T	c.(2731-2733)ggG>ggT	p.G911G	SUGP2_ENST00000600377.1_Silent_p.G925G|SUGP2_ENST00000456085.2_Silent_p.G680G|SUGP2_ENST00000452918.2_Silent_p.G911G|SUGP2_ENST00000337018.6_Silent_p.G911G			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	911					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACTTGCCCGCCCCTCCAGGAG	0.706000													12	19					2.68362e-12	3.63953e-12	1	1	0
MKI67	4288	broad.mit.edu	37	10	129903234	129903234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:129903234C>A	ENST00000368654.3	-	13	7245	c.6870G>T	c.(6868-6870)ttG>ttT	p.L2290F	MKI67_ENST00000368653.3_Missense_Mutation_p.L1930F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2290	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGGCAGGTCCAATTTCTGCA	0.488000													31	233					2.08457e-15	3.04394e-15	1	1	0
FUT9	10690	broad.mit.edu	37	6	96651361	96651361	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:96651361C>A	ENST00000302103.5	+	3	656	c.330C>A	c.(328-330)caC>caA	p.H110Q		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	110					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGATCCATCACCGAGACATCA	0.468000													17	47					0.000422831	0.000459483	1	1	0
SESTD1	91404	broad.mit.edu	37	2	179986501	179986501	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:179986501G>C	ENST00000428443.3	-	13	1754	c.1438C>G	c.(1438-1440)Caa>Gaa	p.Q480E		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	480					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTTGCCTTTGTTTTCTAAGC	0.308000													6	59					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62452970	62452970	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:62452970G>T	ENST00000512091.1	+	4	828	c.81G>T	c.(79-81)atG>atT	p.M27I	LPHN3_ENST00000504896.1_Missense_Mutation_p.M27I|LPHN3_ENST00000514996.1_Missense_Mutation_p.M27I|LPHN3_ENST00000508946.1_Missense_Mutation_p.M27I|LPHN3_ENST00000508693.1_Missense_Mutation_p.M95I|LPHN3_ENST00000507625.1_Missense_Mutation_p.M95I|LPHN3_ENST00000545650.1_Missense_Mutation_p.M27I|LPHN3_ENST00000506720.1_Missense_Mutation_p.M95I|LPHN3_ENST00000509896.1_Missense_Mutation_p.M95I|LPHN3_ENST00000506746.1_Missense_Mutation_p.M95I|LPHN3_ENST00000514591.1_Missense_Mutation_p.M27I|LPHN3_ENST00000514157.1_Missense_Mutation_p.M27I|LPHN3_ENST00000507164.1_Missense_Mutation_p.M95I|LPHN3_ENST00000506700.1_Missense_Mutation_p.M27I|LPHN3_ENST00000511324.1_Missense_Mutation_p.M95I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	27					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAATTCCAATGGCTGTGGTCC	0.468000													3	8					0.004672	0.00488091	1	1	0
GDPD4	220032	broad.mit.edu	37	11	76980934	76980934	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:76980934A>T	ENST00000315938.4	-	7	722	c.472T>A	c.(472-474)Tta>Ata	p.L158I	GDPD4_ENST00000376217.2_Missense_Mutation_p.L158I	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	158					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TAACCTCTTAACCTTGTGATT	0.333000													4	16					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27777674	27777674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:27777674G>A	ENST00000261588.4	+	20	3873	c.3854G>A	c.(3853-3855)tGg>tAg	p.W1285*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1285										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAGCATATGTGGCTGATCCCC	0.597000													8	56					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53955928	53955928	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:53955928C>A	ENST00000263634.3	-	5	659	c.525G>T	c.(523-525)caG>caT	p.Q175H	GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.Q102H|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.Q102H|ASB3_ENST00000406625.2_Missense_Mutation_p.Q210H|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.Q213H	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		210					intracellular signal transduction												CAAAGTCATCCTGGCATTCCT	0.353000													9	49					3.09899e-07	3.70437e-07	1	1	0
FAIM2	23017	broad.mit.edu	37	12	50264431	50264431	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:50264431C>A	ENST00000320634.3	-	12	901	c.807G>T	c.(805-807)ctG>ctT	p.L269L	FAIM2_ENST00000550890.1_Silent_p.L223L	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	269					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TGTCAAGTGCCAGGAACTGGG	0.557000													13	23					5.50884e-06	6.37735e-06	1	1	0
MRO	83876	broad.mit.edu	37	18	48325737	48325737	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr18:48325737C>T	ENST00000428869.2	-	9	975	c.717G>A	c.(715-717)ctG>ctA	p.L239L	MRO_ENST00000398439.3_Silent_p.L239L|MRO_ENST00000588444.1_Silent_p.L187L|MRO_ENST00000431965.2_Silent_p.L201L|MRO_ENST00000436348.2_Silent_p.L253L|MRO_ENST00000256425.2_Silent_p.L239L			Q9BYG7	MSTRO_HUMAN	maestro	239						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		AGAAGAACTGCAGGATCTCTG	0.443000													10	65					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438942	120438942	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:120438942G>T	ENST00000424086.1	+	2	986	c.513G>T	c.(511-513)ctG>ctT	p.L171L	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Silent_p.L171L|TMEM177_ENST00000272521.6_Silent_p.L171L|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	171						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TGCACGCCCTGCTGGCCCCAG	0.637000													13	62					7.03913e-09	8.9116e-09	1	1	0
ZNF41	7592	broad.mit.edu	37	X	47306961	47306961	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:47306961C>T	ENST00000377065.4	-	5	2847	c.2208G>A	c.(2206-2208)atG>atA	p.M736I	ZNF41_ENST00000397050.2_Missense_Mutation_p.M746I|ZNF41_ENST00000313116.7_Missense_Mutation_p.M736I	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	778						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTATCTGATGCATACTTAGTG	0.378000													29	70					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57865150	57865150	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:57865150C>A	ENST00000598744.1	+	0	511				ZNF304_ENST00000282286.5_Missense_Mutation_p.L31I|ZNF304_ENST00000391705.3_Missense_Mutation_p.L31I|ZNF304_ENST00000443917.2_Missense_Mutation_p.L31I			Q9HCX3	ZN304_HUMAN	zinc finger protein 304						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L31F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTGGGAACTCCTTGAGGAGGC	0.483000													24	32					4.54149e-19	6.94739e-19	1	1	0
CUL4B	8450	broad.mit.edu	37	X	119664098	119664098	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:119664098T>A	ENST00000371322.5	-	19	2512	c.2451A>T	c.(2449-2451)caA>caT	p.Q817H	CUL4B_ENST00000404115.3_Missense_Mutation_p.Q835H|CUL4B_ENST00000336592.6_Missense_Mutation_p.Q822H	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	835					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGTGCTTGCTTGTTCTTCAA	0.343000													32	86					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237387	140237387	+	Missense_Mutation	SNP	T	T	G	rs251364	by1000genomes	TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:140237387T>G	ENST00000307360.5	+	1	1754	c.1754T>G	c.(1753-1755)gTt>gGt	p.V585G	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCGGTGGTTGCGGGTCAC	0.662000													2	3					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216281	55216281	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:55216281T>A	ENST00000340465.2	+	5	687	c.601T>A	c.(601-603)Tcc>Acc	p.S201T		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	201						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGTCAGCAGTCCAAAGAAGC	0.438000													24	93					0	0	1	0	0
SNX30	401548	broad.mit.edu	37	9	115567195	115567195	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:115567195A>G	ENST00000374232.3	+	2	460	c.296A>G	c.(295-297)aAg>aGg	p.K99R		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	99	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GATGATCCCAAGAAGCATGTG	0.438000													20	80					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886192	88886192	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:88886192C>A	ENST00000319675.3	-	1	104	c.8G>T	c.(7-9)aGc>aTc	p.S3I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	3										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGGTCTTTTGCTCTCCATTTC	0.522000													14	33					1.49906e-05	1.69717e-05	1	1	0
HIST1H4F	8361	broad.mit.edu	37	6	26240937	26240937	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:26240937G>T	ENST00000377745.2	+	1	377	c.284G>T	c.(283-285)gGa>gTa	p.G95V		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	95					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AAGCGCCAGGGACGCACTCTG	0.552000													17	31					3.32936e-07	3.96132e-07	1	1	0
OR8J3	81168	broad.mit.edu	37	11	55904466	55904466	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:55904466C>T	ENST00000301529.1	-	1	728	c.729G>A	c.(727-729)tcG>tcA	p.S243S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S243S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CTATCATATGCGAAGCGCAGG	0.403000													15	59					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161576317	161576317	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:161576317C>A	ENST00000356592.3	+	8	1586	c.1126C>A	c.(1126-1128)Cct>Act	p.P376T	GABRG2_ENST00000393933.4_Missense_Mutation_p.P281T|GABRG2_ENST00000414552.2_Missense_Mutation_p.P416T|GABRG2_ENST00000361925.4_Missense_Mutation_p.P376T	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	376					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAAGAAAAACCCTGTATGTAT	0.393000													15	59					1.05317e-09	1.36699e-09	1	1	0
IGLV5-45	28781	broad.mit.edu	37	22	22730782	22730782	+	RNA	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr22:22730782G>A	ENST00000390296.2	+	0	305																											ATCCAAAGATGCTTCGGCCAA	0.527000													39	116					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160274761	160274761	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:160274761G>T	ENST00000264431.4	+	22	4150	c.3731G>T	c.(3730-3732)aGt>aTt	p.S1244I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1244					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GCTGCTGACAGTGGCCGTGGG	0.532000													24	61					2.32416e-17	3.46266e-17	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40745367	40745367	+	Silent	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:40745367A>G	ENST00000298910.7	+	44	6466	c.6408A>G	c.(6406-6408)gaA>gaG	p.E2136E		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2136	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTCAGCTGAATTAGTCTGTC	0.353000													9	32					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220163805	220163805	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:220163805C>G	ENST00000295718.2	-	12	1872	c.1632G>C	c.(1630-1632)caG>caC	p.Q544H	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.Q515H|PTPRN_ENST00000423636.2_Missense_Mutation_p.Q454H	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	544					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGAGCCCTGTCTGTGCTTCCA	0.567000											OREG0015221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	115					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585176	1585176	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:1585176C>A	ENST00000381297.4	-	2	486	c.276G>T	c.(274-276)ggG>ggT	p.G92G		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	92						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAAGCAGCACCCCGAATACCC	0.547000			T	CRLF2	"""B-ALL, Downs associated ALL"""								7	28					0.00307968	0.00324376	1	1	0
PGLYRP2	114770	broad.mit.edu	37	19	15582835	15582835	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:15582835C>A	ENST00000292609.4	-	3	1338	c.1209G>T	c.(1207-1209)ccG>ccT	p.P403P	PGLYRP2_ENST00000340880.4_Silent_p.P403P			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	403					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AGAATCCCAGCGGCAGCTGCA	0.672000													3	22					0.150653	0.152133	1	1	0
STK4	6789	broad.mit.edu	37	20	43615794	43615794	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:43615794A>G	ENST00000372806.3	+	5	477	c.382A>G	c.(382-384)Aca>Gca	p.T128A	STK4_ENST00000396731.4_Missense_Mutation_p.T128A|STK4_ENST00000372801.1_Missense_Mutation_p.T128A|STK4_ENST00000499879.2_Intron	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	128	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGAAATAGCTACAATATTACA	0.308000													11	70					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163236483	163236483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:163236483G>T	ENST00000332142.5	-	14	3110	c.3011C>A	c.(3010-3012)cCt>cAt	p.P1004H		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1004					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGAGTCTTCAGGCTGGGGATG	0.507000													51	106					2.0833e-19	3.21566e-19	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113249566	113249566	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:113249566C>A	ENST00000297405.5	-	67	10724	c.10480G>T	c.(10480-10482)Gta>Tta	p.V3494L	CSMD3_ENST00000352409.3_Missense_Mutation_p.V3424L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3454L|CSMD3_ENST00000455883.2_Missense_Mutation_p.V3325L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3494						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGCAAATACATCATCAGGA	0.303000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	51					3.28513e-13	4.55136e-13	1	1	0
GBA2	57704	broad.mit.edu	37	9	35741743	35741743	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:35741743C>T	ENST00000378094.4	-	4	1225	c.712G>A	c.(712-714)Gtc>Atc	p.V238I	GBA2_ENST00000378103.3_Missense_Mutation_p.V238I|GBA2_ENST00000545786.1_Missense_Mutation_p.V244I|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	238					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGATAGACAGTCCAGGCT	0.587000													10	89					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104782521	104782521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:104782521C>A	ENST00000357311.3	-	10	1615	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	SRPK2_ENST00000489828.1_Nonsense_Mutation_p.E482*|SRPK2_ENST00000393651.3_Nonsense_Mutation_p.E493*	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	482	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GGACTGCTCTCCTCTTGCTCA	0.512000													12	65					6.40141e-05	7.13736e-05	1	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75928908	75928908	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:75928908G>C	ENST00000262207.4	+	7	1304	c.836G>C	c.(835-837)aGc>aCc	p.S279T	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S93T|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S91T	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	279						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GATGATAGTAGCAGAAATGAA	0.373000													84	112					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489579	76489579	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:76489579A>G	ENST00000311623.4	+	2	358	c.323A>G	c.(322-324)cAc>cGc	p.H108R	C4orf26_ENST00000435974.2_Missense_Mutation_p.T123A	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	108						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATTGGCCACACCGTTACCTT	0.458000													23	127					0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879200	209879200	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:209879200G>T	ENST00000367028.2	+	3	302	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.G45W|HSD11B1_ENST00000261465.1_Missense_Mutation_p.G45W	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	45					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGCCAGCAAAGGGATCGGAAG	0.502000													16	55					2.23348e-06	2.59731e-06	1	1	0
MUC16	94025	broad.mit.edu	37	19	9069917	9069917	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:9069917G>T	ENST00000397910.4	-	3	17732	c.17529C>A	c.(17527-17529)acC>acA	p.T5843T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5845	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGTGATGGTTTCTGTGG	0.473000													41	69					2.95478e-19	4.5336e-19	1	1	0
TTYH3	80727	broad.mit.edu	37	7	2696147	2696147	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:2696147C>T	ENST00000258796.7	+	11	1434	c.1229C>T	c.(1228-1230)cCg>cTg	p.P410L	TTYH3_ENST00000403167.1_Missense_Mutation_p.P239L|TTYH3_ENST00000407643.1_Missense_Mutation_p.P378L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	410						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TGCAGCGTCCCGCACACCTGG	0.632000													5	56					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111366443	111366443	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:111366443G>T	ENST00000352690.4	+	13	1771	c.1531G>T	c.(1531-1533)Gct>Tct	p.A511S	CD96_ENST00000283285.5_Missense_Mutation_p.A527S	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	527					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATTGTAGCAGCTTTACTCTT	0.378000									Opitz Trigonocephaly syndrome				35	87					3.62531e-18	5.46454e-18	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21805141	21805141	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:21805141T>A	ENST00000328843.6	+	56	9088	c.9057T>A	c.(9055-9057)caT>caA	p.H3019Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.H3012Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3019	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTGGTTTCATGCGTGGCCGC	0.532000									Kartagener syndrome				29	52					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876380	120876380	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:120876380G>T	ENST00000273666.6	+	9	1054	c.783G>T	c.(781-783)gaG>gaT	p.E261D	STXBP5L_ENST00000497029.1_Missense_Mutation_p.E261D|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E261D|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E261D|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E261D	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	261					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGCATCATGAGGGCAAACAGT	0.373000													11	53					1.58986e-06	1.85725e-06	1	1	0
ITGAL	3683	broad.mit.edu	37	16	30521709	30521709	+	Nonsense_Mutation	SNP	G	G	T	rs146031122		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:30521709G>T	ENST00000356798.6	+	22	2716	c.2536G>T	c.(2536-2538)Gag>Tag	p.E846*	ITGAL_ENST00000358164.5_Nonsense_Mutation_p.E762*|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	846					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.E846K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGTGAGCTGCGAGGAGCTTCC	0.537000													19	82					9.7654e-05	0.000108177	1	1	0
ZNF827	152485	broad.mit.edu	37	4	146770684	146770684	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:146770684T>G	ENST00000508784.1	-	6	2238	c.2011A>C	c.(2011-2013)Aag>Cag	p.K671Q	ZNF827_ENST00000379448.4_Missense_Mutation_p.K671Q|ZNF827_ENST00000513320.1_Missense_Mutation_p.K321Q|ZNF827_ENST00000511534.1_5'UTR			Q17R98	ZN827_HUMAN	zinc finger protein 827	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCTTTAATCTTCACCATCTGT	0.453000													29	58					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686024	125686024	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:125686024G>T	ENST00000371126.1	-	1	810	c.568C>A	c.(568-570)Cgc>Agc	p.R190S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	190										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TGGCCATGGCGGTCGCCCAGG	0.672000													9	20					0.000274275	0.000299315	1	1	0
TENM2	57451	broad.mit.edu	37	5	167674935	167674935	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:167674935C>G	ENST00000519204.1	+	26	6746	c.6628C>G	c.(6628-6630)Cgc>Ggc	p.R2210G	TENM2_ENST00000403607.2_Missense_Mutation_p.R2155G|TENM2_ENST00000545108.1_Missense_Mutation_p.R2330G|TENM2_ENST00000518659.1_Missense_Mutation_p.R2331G|TENM2_ENST00000520394.1_Missense_Mutation_p.R2092G					teneurin transmembrane protein 2																		CAACCCGACGCGCATCACCCA	0.572000													82	104					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133376770	133376770	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:133376770C>A	ENST00000260810.5	-	4	366	c.235G>T	c.(235-237)Gtt>Ttt	p.V79F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	79					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGAGGACCAACAATTCTGCAG	0.363000								Other conserved DNA damage response genes					8	24					0.00307968	0.00324376	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113599308	113599308	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:113599308C>T	ENST00000297405.5	-	23	4116	c.3872G>A	c.(3871-3873)gGa>gAa	p.G1291E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1291E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1251E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1187E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1291	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGAACATCTCCTTGTGCTAA	0.299000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	78					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179119024	179119024	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:179119024T>A	ENST00000232564.3	-	10	1286	c.1000A>T	c.(1000-1002)Agt>Tgt	p.S334C	GNB4_ENST00000468623.1_Missense_Mutation_p.S334C	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	334					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CTAAGAAAACTGTCCCAAGAG	0.403000													13	39					0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151317291	151317291	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:151317291T>C	ENST00000290524.4	-	6	444	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	RFX5_ENST00000452513.2_Intron|RFX5_ENST00000452671.2_Missense_Mutation_p.Y89C|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Missense_Mutation_p.Y89C	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	89	N-terminal domain.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCATACATGTACTCCTCATT	0.483000													16	28					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62917186	62917186	+	Splice_Site	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:62917186T>A	ENST00000253401.6	-	4	1182		c.e4-2		ARHGEF9_ENST00000374878.1_Splice_Site|ARHGEF9_ENST00000437457.2_Splice_Site|ARHGEF9_ENST00000374870.4_Splice_Site|ARHGEF9_ENST00000495564.1_Splice_Site|ARHGEF9_ENST00000374872.1_Splice_Site	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9						apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CAGATAGCCCTGTAGACAAAG	0.453000													10	29					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597006	31597006	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:31597006A>T	ENST00000376033.2	+	13	2085	c.1851A>T	c.(1849-1851)gaA>gaT	p.E617D	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E617D	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	617	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAAAGGTGGAACCCAAGGGTG	0.572000													15	133					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29935703	29935703	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:29935703A>C	ENST00000378993.1	+	7	1574	c.901A>C	c.(901-903)Agt>Cgt	p.S301R	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S301R	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	301	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGTTTGGGAAAGTGACATTAG	0.323000													6	35					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60548183	60548183	+	Splice_Site	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:60548183G>T	ENST00000373886.3	+	6	604	c.600_splice	c.e6+1	p.R200_splice		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	200					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTAGAATTCGGGTAACTATTT	0.308000													4	26					0.184627	0.184987	1	1	0
TP53TG5	27296	broad.mit.edu	37	20	44003803	44003803	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:44003803G>T	ENST00000372726.3	-	4	800	c.644C>A	c.(643-645)cCc>cAc	p.P215H	TP53TG5_ENST00000537995.1_Missense_Mutation_p.P199H|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	215					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GATTCGTGTGGGCAGCCCCTC	0.602000													33	43					1.30988e-24	2.13063e-24	1	1	0
EMR1	2015	broad.mit.edu	37	19	6897211	6897211	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:6897211G>T	ENST00000312053.4	+	4	327	c.290G>T	c.(289-291)tGc>tTc	p.C97F	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.C97F|EMR1_ENST00000250572.8_Missense_Mutation_p.C97F|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000601198.1_3'UTR	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	97	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AACTCATCCTGCAAAAACCTG	0.448000													4	37					0.150653	0.152133	1	1	0
UNC45B	146862	broad.mit.edu	37	17	33501390	33501390	+	Splice_Site	SNP	T	T	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:33501390T>C	ENST00000268876.5	+	14	2061		c.e14+2		UNC45B_ENST00000433649.1_Splice_Site|UNC45B_ENST00000378449.1_Splice_Site|UNC45B_ENST00000394570.2_Splice_Site|UNC45B_ENST00000591048.1_Splice_Site	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)						cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCTGGCCAGGTGGGGCTGCAG	0.612000													18	41					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47971575	47971575	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr21:47971575G>A	ENST00000318711.7	+	24	3054	c.2871G>A	c.(2869-2871)ggG>ggA	p.G957G	DIP2A_ENST00000427143.2_Silent_p.G892G|DIP2A_ENST00000417564.2_Silent_p.G956G|DIP2A_ENST00000400274.1_Silent_p.G952G	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	956					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGATCGTGGGGAACCTGGTTG	0.532000													7	22					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793430	114793430	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:114793430G>T	ENST00000310346.4	-	9	2130	c.1464C>A	c.(1462-1464)ctC>ctA	p.L488L	TBX5_ENST00000349716.5_Silent_p.L438L|TBX5_ENST00000405440.2_Silent_p.L488L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	488					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CATGAGAGTAGAGGAACTCAG	0.607000													6	38					0.0215528	0.0221562	1	1	0
WWC3	55841	broad.mit.edu	37	X	10093089	10093089	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:10093089C>A	ENST00000380861.4	+	14	2243	c.1852C>A	c.(1852-1854)Ctc>Atc	p.L618I	WWC3_ENST00000454666.1_Missense_Mutation_p.L618I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	618	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGAGTGTCTCCTCGTGCACGT	0.617000													6	18					0.00198382	0.00210678	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185520	127185520	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:127185520G>C	ENST00000371124.3	-	1	862	c.666C>G	c.(664-666)atC>atG	p.I222M		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	222						cytoplasm|cytoskeleton		p.I222M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCTCCAAGGCGATGTAGCACA	0.527000													23	93					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79286329	79286329	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:79286329G>C	ENST00000442340.1	+	9	1412	c.922G>C	c.(922-924)Gac>Cac	p.D308H	TBX22_ENST00000373291.1_Missense_Mutation_p.D308H|TBX22_ENST00000373294.5_Missense_Mutation_p.D428H|TBX22_ENST00000373296.3_Missense_Mutation_p.D428H	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	428					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D428Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCATCTGAAGACTCCAGTGA	0.433000													18	90					0	0	1	0	0
POP7	10248	broad.mit.edu	37	7	100304795	100304795	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:100304795G>C	ENST00000303151.4	+	2	604	c.342G>C	c.(340-342)gaG>gaC	p.E114D		NM_005837.2	NP_005828.2	O75817	POP7_HUMAN	processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)	114					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGAGCCAGAGACCGACACAC	0.582000													24	41					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155316	22155316	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:22155316T>A	ENST00000397126.4	-	4	2668	c.2520A>T	c.(2518-2520)aaA>aaT	p.K840N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACTAAAGGCTTTGCCACATT	0.388000													9	52					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605902	1605902	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:1605902G>T	ENST00000382171.2	-	1	611	c.578C>A	c.(577-579)tCc>tAc	p.S193Y	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	193	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.S193Y(2)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCCCCCTTGGATCCCCCACA	0.672000													11	25					2.62699e-14	3.78227e-14	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53104065	53104065	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:53104065G>T	ENST00000408890.4	+	1	717	c.701G>T	c.(700-702)gGg>gTg	p.G234V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	234										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCAGGCCAGGGCCTCTGAAG	0.642000													37	54					2.42023e-17	3.59537e-17	1	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160274763	160274763	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:160274763G>T	ENST00000264431.4	+	22	4152	c.3733G>T	c.(3733-3735)Ggc>Tgc	p.G1245C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1245					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGCTGACAGTGGCCGTGGGAG	0.527000													24	62					2.32416e-17	3.46266e-17	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091819	29091819	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr22:29091819G>C	ENST00000544772.1	-	12	1911	c.475C>G	c.(475-477)Ctc>Gtc	p.L159V	CHEK2_ENST00000348295.3_Missense_Mutation_p.L351V|CHEK2_ENST00000403642.1_Missense_Mutation_p.L289V|CHEK2_ENST00000382580.2_Missense_Mutation_p.L423V|CHEK2_ENST00000405598.1_Missense_Mutation_p.L380V|CHEK2_ENST00000382578.1_Missense_Mutation_p.L289V|CHEK2_ENST00000404276.1_Missense_Mutation_p.L380V|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.L351V|CHEK2_ENST00000328354.6_Missense_Mutation_p.L380V|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	380	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTTCTCATGAGAGAGGTCTCT	0.423000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					8	70					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119097277	119097277	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:119097277C>A	ENST00000328252.3	+	13	3904	c.3535C>A	c.(3535-3537)Cgt>Agt	p.R1179S	PAPPA_ENST00000534838.1_Missense_Mutation_p.R217S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1179					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGTGGCCCTCCGTTCCTTCGA	0.637000													15	56					1.3612e-06	1.60841e-06	1	1	0
KANK1	23189	broad.mit.edu	37	9	732487	732487	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:732487G>C	ENST00000382303.1	+	10	3767	c.3115G>C	c.(3115-3117)Gag>Cag	p.E1039Q	KANK1_ENST00000382293.3_Missense_Mutation_p.E881Q|KANK1_ENST00000382297.2_Missense_Mutation_p.E1039Q|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GGAGGAGGAGGAGGATGAAGA	0.463000													42	53					0	0	1	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866556	106866556	+	RNA	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr14:106866556C>A	ENST00000390618.2	-	0	275																											TGGATGAGACCCACTCCAGCC	0.542000													44	101					1.62957e-23	2.6175e-23	1	1	0
TTR	7276	broad.mit.edu	37	18	29178620	29178620	+	Silent	SNP	C	C	A	rs11541782		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr18:29178620C>A	ENST00000237014.3	+	4	603	c.426C>A	c.(424-426)gtC>gtA	p.V142V		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	142			V -> A (in AMYL-TTR).|V -> I (in AMYL-TTR; dbSNP:rs28933980).		transport	cytoplasm	hormone activity			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	CGGCTGTCGTCACCAATCCCA	0.537000													11	26					0.00136819	0.00146206	1	1	0
OR2T27	403239	broad.mit.edu	37	1	248813267	248813267	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:248813267T>A	ENST00000344889.3	-	1	918	c.919A>T	c.(919-921)Agg>Tgg	p.R307W		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACACACACCTCCCCACAACC	0.438000													7	59					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024867	176024867	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:176024867C>A	ENST00000303991.4	-	2	2146	c.1969G>T	c.(1969-1971)Gtg>Ttg	p.V657L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	657						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCAAACACACAGCCCCTGCT	0.602000													15	30					1.52009e-12	2.078e-12	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57768129	57768129	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:57768129C>A	ENST00000371030.2	+	1	2055	c.2055C>A	c.(2053-2055)tcC>tcA	p.S685S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	685						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGACATATCCGCAGGGGCAA	0.622000													10	15					7.48243e-07	8.86168e-07	1	1	0
FLNC	2318	broad.mit.edu	37	7	128477593	128477593	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:128477593T>A	ENST00000325888.8	+	4	1102	c.841T>A	c.(841-843)Tat>Aat	p.Y281N	FLNC_ENST00000346177.6_Missense_Mutation_p.Y281N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	281					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGCCATCGCCTATGGGCCTGG	0.607000													6	66					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12345533	12345533	+	Silent	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:12345533G>A	ENST00000256186.2	+	5	1842	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	517					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGGAGAAGAAGACACTTAGAA	0.343000													31	139					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	115060193	115060193	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:115060193C>A	ENST00000334318.6	-	3	232	c.46G>T	c.(46-48)Gga>Tga	p.G16*	PTBP3_ENST00000374255.2_Nonsense_Mutation_p.G16*|PTBP3_ENST00000487997.1_Intron|PTBP3_ENST00000374257.1_5'UTR|PTBP3_ENST00000458258.1_Nonsense_Mutation_p.G22*|PTBP3_ENST00000343327.2_5'UTR	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	16					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										TCATCAGATCCCCGCTGAAAA	0.318000													16	53					2.35188e-11	3.16457e-11	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597629	136597629	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:136597629G>T	ENST00000531224.1	-	5	1286	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S343Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S343Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S345Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S343Y|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	345					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAATACTCTAGACTCTTCATC	0.433000													14	132					3.32936e-07	3.96132e-07	1	1	0
COL20A1	57642	broad.mit.edu	37	20	61951528	61951528	+	Silent	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr20:61951528C>A	ENST00000422202.1	+	23	3143	c.3075C>A	c.(3073-3075)ggC>ggA	p.G1025G	COL20A1_ENST00000435874.1_Silent_p.G1025G|COL20A1_ENST00000326996.6_Silent_p.G1018G|COL20A1_ENST00000358894.6_Silent_p.G1018G			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1018	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGGCCAGGGGCCCCCGGAGCA	0.741000													5	4					1.23904e-05	1.409e-05	1	1	0
TECPR1	25851	broad.mit.edu	37	7	97875320	97875320	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:97875320C>A	ENST00000447648.2	-	3	438	c.139G>T	c.(139-141)Ggc>Tgc	p.G47C	TECPR1_ENST00000542604.1_Intron|TECPR1_ENST00000379795.3_Missense_Mutation_p.G47C			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	47						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGGCAATGCCCCAGCAGCAC	0.592000													3	10					0.115264	0.116855	1	1	0
C5orf49	134121	broad.mit.edu	37	5	7832093	7832093	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:7832093C>A	ENST00000399810.2	-	3	782	c.314G>T	c.(313-315)cGc>cTc	p.R105L	C5orf49_ENST00000509627.1_Missense_Mutation_p.R103L	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	105										large_intestine(3)|lung(5)|skin(1)	9						CTGATTGATGCGCTTCCCATA	0.542000													109	125					2.03867e-50	3.46978e-50	1	1	0
USP53	54532	broad.mit.edu	37	4	120190866	120190866	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:120190866C>G	ENST00000450251.1	+	11	1853	c.1309C>G	c.(1309-1311)Caa>Gaa	p.Q437E	USP53_ENST00000274030.6_Missense_Mutation_p.Q437E			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	437					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TCACATTGATCAAAGGGAAAA	0.289000													5	54					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179467123	179467123	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:179467123C>A	ENST00000589042.1	-	283	55230	c.55006G>T	c.(55006-55008)Gtg>Ttg	p.V18336L	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9463L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15768L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16695L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9396L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9271L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16695	Fibronectin type-III 33.						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)			AGATTAGGCACCACACATTCA	0.418000													6	47					1.26484e-09	1.63349e-09	1	1	0
WNK2	65268	broad.mit.edu	37	9	95992102	95992102	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr9:95992102G>T	ENST00000297954.4	+	2	806	c.806G>T	c.(805-807)cGg>cTg	p.R269L	WNK2_ENST00000395475.2_Missense_Mutation_p.R255L|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.R269L			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	269	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AAGGGCAAGCGGTGCATTGTG	0.627000													3	22					0.115264	0.116855	1	1	0
TTC23L	153657	broad.mit.edu	37	5	34850397	34850397	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:34850397C>T	ENST00000505624.1	+	4	466	c.363C>T	c.(361-363)ggC>ggT	p.G121G	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	121							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TAGCTTATGGCTACTTGACAC	0.507000													47	103					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	37					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372727	24372727	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:24372727C>A	ENST00000005284.3	+	4	1693	c.491C>A	c.(490-492)cCc>cAc	p.P164H		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	164					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCCGGAGACCCCGGGCAGCGT	0.458000													21	103					6.33239e-15	9.16858e-15	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109383283	109383283	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:109383283G>T	ENST00000283195.6	+	20	6414	c.6288G>T	c.(6286-6288)aaG>aaT	p.K2096N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2096	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGAACCTGAAGCCTCTCTCTG	0.423000													72	345					3.82274e-22	6.06447e-22	1	1	0
GH2	2689	broad.mit.edu	37	17	61958816	61958816	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:61958816C>G	ENST00000332800.7	-	2	207	c.74G>C	c.(73-75)aGt>aCt	p.S25T	GH2_ENST00000456543.2_Missense_Mutation_p.S25T|GH2_ENST00000423893.2_Missense_Mutation_p.S25T|GH2_ENST00000449787.2_Missense_Mutation_p.S25T	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	25						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGGGAAGGCACTGCCCTCTTG	0.592000													63	135					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183664352	183664352	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:183664352C>A	ENST00000511685.1	+	19	3532	c.3409C>A	c.(3409-3411)Cag>Aag	p.Q1137K	TENM3_ENST00000406950.2_Missense_Mutation_p.Q1137K|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CGGGGAAAACCAGTTCATCTC	0.443000													8	23					0.000274275	0.000299315	1	1	0
CD200R1	131450	broad.mit.edu	37	3	112643939	112643939	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:112643939C>T	ENST00000471858.1	-	5	1034	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Missense_Mutation_p.G291S	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	268					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TACCTGCAGCCATTGACTTTC	0.333000													15	25					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627355	38627355	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:38627355C>T	ENST00000413689.1	-	16	2807	c.2614G>A	c.(2614-2616)Gac>Aac	p.D872N	SCN5A_ENST00000455624.2_Missense_Mutation_p.D872N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D872N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D872N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D872N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D872N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D872N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D872N|SCN5A_ENST00000333535.4_Missense_Mutation_p.D872N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D872N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	872					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.D872N(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGCCTGAGTCGCTGTCCCTC	0.552000													22	77					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33308674	33308674	+	Silent	SNP	T	T	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:33308674T>G	ENST00000303296.4	+	2	1019	c.714T>G	c.(712-714)ggT>ggG	p.G238G	HIPK3_ENST00000379016.3_Silent_p.G238G|HIPK3_ENST00000456517.1_Silent_p.G238G|HIPK3_ENST00000525975.1_Silent_p.G238G	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	238	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCCGTCAAGGTCAAATAGAAG	0.388000													5	64					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706531	96706531	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:96706531G>A	ENST00000389672.5	+	3	846	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	EPHA6_ENST00000470610.2_Missense_Mutation_p.V270M|EPHA6_ENST00000542517.1_Missense_Mutation_p.V176M	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	175						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AATTCGTGAGGTGGGGCCTAT	0.443000													55	219					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712460	140712460	+	Missense_Mutation	SNP	G	G	T	rs113017417		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:140712460G>T	ENST00000517417.1	+	1	2209	c.2209G>T	c.(2209-2211)Ggt>Tgt	p.G737C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G737C	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCATGCCCGGTTCGCACTT	0.632000													40	68					7.04047e-22	1.10667e-21	1	1	0
ANTXR1	84168	broad.mit.edu	37	2	69330012	69330012	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:69330012C>A	ENST00000303714.4	+	10	1064	c.742C>A	c.(742-744)Cat>Aat	p.H248N	ANTXR1_ENST00000409829.3_Missense_Mutation_p.H248N|ANTXR1_ENST00000409349.3_Missense_Mutation_p.H248N	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	248					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CGGCTTCCGACATGCCCGCAA	0.483000									Familial Infantile Hemangioma				63	166					9.40535e-28	1.55445e-27	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904399	144904399	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:144904399G>T	ENST00000370490.1	+	1	4711	c.456G>T	c.(454-456)ggG>ggT	p.G152G	SLITRK2_ENST00000447897.2_Silent_p.G152G|SLITRK2_ENST00000428560.2_Silent_p.G152G|SLITRK2_ENST00000413937.2_Silent_p.G152G|SLITRK2_ENST00000434188.2_Silent_p.G152G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	152						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCGAGGCTGGGGCATTCAGCA	0.507000													42	54					2.35958e-20	3.66413e-20	1	1	0
CCDC41	51134	broad.mit.edu	37	12	94797017	94797017	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:94797017C>G	ENST00000397809.5	-	5	895	c.346G>C	c.(346-348)Gaa>Caa	p.E116Q	CCDC41_ENST00000397807.2_Missense_Mutation_p.E83Q|CCDC41_ENST00000339839.5_Missense_Mutation_p.E116Q|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Missense_Mutation_p.E116Q	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	108										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTTAGCAATTCCAATTTTTGT	0.299000													17	25					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313517	54313517	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:54313517C>G	ENST00000324134.6	-	3	1564	c.1396G>C	c.(1396-1398)Gca>Cca	p.A466P	NLRP12_ENST00000391773.1_Missense_Mutation_p.A466P|NLRP12_ENST00000391775.3_Missense_Mutation_p.A466P|NLRP12_ENST00000391772.1_Missense_Mutation_p.A466P|NLRP12_ENST00000354278.3_Missense_Mutation_p.A466P|NLRP12_ENST00000345770.5_Missense_Mutation_p.A466P|NLRP12_ENST00000351894.4_Missense_Mutation_p.A466P|NLRP12_ENST00000535162.1_Missense_Mutation_p.A466P	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	466	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCCCATCTGCCGCCAAGGAG	0.592000													7	69					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151936671	151936671	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:151936671A>C	ENST00000367290.5	+	10	1914	c.1825A>C	c.(1825-1827)Atg>Ctg	p.M609L	CCDC170_ENST00000239374.7_Missense_Mutation_p.M602L			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	602																	GAAAAAGCTCATGTCTGTCAA	0.393000													30	100					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216737649	216737649	+	Silent	SNP	G	G	T	rs150595557		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:216737649G>T	ENST00000391890.3	-	7	1243	c.726C>A	c.(724-726)ccC>ccA	p.P242P	ESRRG_ENST00000361525.3_Silent_p.P235P|ESRRG_ENST00000487276.1_Silent_p.P235P|ESRRG_ENST00000408911.3_Silent_p.P258P|ESRRG_ENST00000463665.1_Silent_p.P196P|ESRRG_ENST00000366940.2_Silent_p.P235P|ESRRG_ENST00000360012.3_Silent_p.P235P|ESRRG_ENST00000493748.1_Silent_p.P235P|ESRRG_ENST00000359162.2_Silent_p.P235P|ESRRG_ENST00000493603.1_Silent_p.P235P|ESRRG_ENST00000361395.2_Silent_p.P235P|ESRRG_ENST00000366937.1_Silent_p.P270P|ESRRG_ENST00000366938.2_Silent_p.P235P	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	258					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGTCACTGTCGGGGACAGTAG	0.493000													17	71					8.28177e-16	1.21972e-15	1	1	0
BAIAP2L2	80115	broad.mit.edu	37	22	38484879	38484879	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr22:38484879G>C	ENST00000381669.3	-	10	1138	c.994C>G	c.(994-996)Ctg>Gtg	p.L332V		NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	332	SH3.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					TGGGAGACCAGGGCGCGGACT	0.721000													5	11					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15415844	15415844	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:15415844C>A	ENST00000281513.5	-	44	5513	c.5488G>T	c.(5488-5490)Gtt>Ttt	p.V1830F	NBAS_ENST00000441750.1_Missense_Mutation_p.V1710F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1830										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATTTTGGGAACAAGTTTGGAA	0.413000													11	82					7.03913e-09	8.9116e-09	1	1	0
SLA	6503	broad.mit.edu	37	8	134072425	134072425	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr8:134072425G>A	ENST00000395352.3	-	2	380	c.32C>T	c.(31-33)gCc>gTc	p.A11V	SLA_ENST00000524345.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000338087.5_5'UTR|SLA_ENST00000427060.2_Missense_Mutation_p.A34V|TG_ENST00000519543.1_Intron|SLA_ENST00000518565.1_5'UTR|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.A11V|TG_ENST00000542445.1_Intron	NM_001045557.2	NP_001039022.2	Q13239	SLAP1_HUMAN	Src-like-adaptor	0						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTTCCCTGGGGCCGCTGGTGA	0.577000													15	63					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54949550	54949550	+	Silent	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:54949550C>T	ENST00000173898.7	+	3	697	c.585C>T	c.(583-585)gcC>gcT	p.A195A	TRO_ENST00000375022.4_Silent_p.A195A|TRO_ENST00000420798.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000319167.8_Silent_p.A195A|TRO_ENST00000484031.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	195					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTTCCCAAGCCTTGATAACCT	0.498000													17	37					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184171	60184171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:60184171C>A	ENST00000300187.6	+	5	2007	c.1730C>A	c.(1729-1731)cCa>cAa	p.P577Q	MS4A14_ENST00000395005.2_Missense_Mutation_p.P560Q|MS4A14_ENST00000531787.1_Missense_Mutation_p.P465Q|MS4A14_ENST00000531783.1_Missense_Mutation_p.P610Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	577	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GAACAATACCCAGAAGGACAA	0.448000													10	36					0.00621372	0.0064784	1	1	0
THOP1	7064	broad.mit.edu	37	19	2799757	2799757	+	Missense_Mutation	SNP	C	C	T	rs143179443	byFrequency	TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:2799757C>T	ENST00000307741.6	+	5	760	c.557C>T	c.(556-558)aCg>aTg	p.T186M	THOP1_ENST00000586677.1_Missense_Mutation_p.T65M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	186					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		AACGAGGACACGACCTTCCTG	0.612000													5	70					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395298	115395298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:115395298G>T	ENST00000393780.3	+	3	1045	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	GAP43_ENST00000305124.6_Nonsense_Mutation_p.E157*	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	157					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CTCCAAGGCTGAAGATGCCCC	0.607000													12	33					1.49906e-05	1.69717e-05	1	1	0
NOP16	51491	broad.mit.edu	37	5	175811133	175811133	+	Missense_Mutation	SNP	T	T	C	rs1065212	by1000genomes	TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:175811133T>C	ENST00000510123.1	-	5	767	c.545A>G	c.(544-546)gAg>gGg	p.E182G	NOP16_ENST00000507413.1_3'UTR|NOP16_ENST00000389158.5_3'UTR	NM_001256539.1|NM_001256540.1|NM_016391.5	NP_001243468.1|NP_001243469.1|NP_057475.2	Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	0						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CCTGGCCAGCTCCTCTGGAGC	0.577000													4	35					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47906074	47906074	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:47906074C>A	ENST00000289672.2	-	25	4085	c.4035G>T	c.(4033-4035)tgG>tgT	p.W1345C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1345	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTATTCGTGACCATTGGTTGC	0.433000													15	98					1.05317e-09	1.36699e-09	1	1	0
RGL1	23179	broad.mit.edu	37	1	183885586	183885586	+	Silent	SNP	T	T	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:183885586T>G	ENST00000304685.3	+	17	2321	c.1860T>G	c.(1858-1860)tcT>tcG	p.S620S	RGL1_ENST00000367531.1_Silent_p.S620S|RGL1_ENST00000360851.3_Silent_p.S585S|RGL1_ENST00000536277.1_Silent_p.S583S|RGL1_ENST00000539189.1_Silent_p.S556S	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	585					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCCAGCTCTCTGAGTCCTCCT	0.468000													44	127					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166960650	166960650	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:166960650G>T	ENST00000367872.4	+	3	505	c.261G>T	c.(259-261)atG>atT	p.M87I	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.M56I	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	87					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGCCAGGCATGCTTGTACCAA	0.393000													34	77					9.45814e-24	1.52877e-23	1	1	0
KRT5	3852	broad.mit.edu	37	12	52910598	52910598	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:52910598C>G	ENST00000252242.4	-	7	1652	c.1262G>C	c.(1261-1263)gGg>gCg	p.G421A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	421	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCCAGCTCCCCACGCTGCTC	0.617000													19	72					0	0	1	0	0
RIBC1	158787	broad.mit.edu	37	X	53455231	53455231	+	Splice_Site	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:53455231G>C	ENST00000457095.1	+	5	404	c.199_splice	c.e5-1	p.G67_splice	RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Splice_Site_p.G67_splice	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	67										lung(2)	2						CCACCCCCAGGTACCAGCCAG	0.527000													17	60					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91348078	91348078	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:91348078G>T	ENST00000358859.2	-	1	875	c.442C>A	c.(442-444)Cgc>Agc	p.R148S	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CGCAGGCCGCGGCCTCTGCGG	0.701000													10	14					1.76689e-08	2.19899e-08	1	1	0
CLINT1	9685	broad.mit.edu	37	5	157216504	157216504	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:157216504C>G	ENST00000523094.1	-	11	1603	c.1398G>C	c.(1396-1398)caG>caC	p.Q466H	CLINT1_ENST00000530742.1_Missense_Mutation_p.Q466H|CLINT1_ENST00000523908.1_Missense_Mutation_p.Q484H|CLINT1_ENST00000296951.5_Missense_Mutation_p.Q466H|CLINT1_ENST00000411809.2_Missense_Mutation_p.Q466H	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	466					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGACTGATTTCTGGACCATAT	0.428000													26	75					0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155491743	155491743	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr4:155491743T>A	ENST00000302068.4	+	8	1480	c.1417T>A	c.(1417-1419)Tca>Aca	p.S473T	FGB_ENST00000509493.1_Missense_Mutation_p.S254T|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	473	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTGGAAGGGGTCATGGTACTC	0.468000													11	46					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135126314	135126314	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:135126314G>T	ENST00000361518.5	+	6	1172	c.703G>T	c.(703-705)Ggt>Tgt	p.G235C	ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000359035.3_3'UTR	NM_145806.2	NP_665805.2	Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CATCTGCTTTGGTCAGGGTGC	0.473000													86	103					1.16018e-38	1.96162e-38	1	1	0
SLC5A9	200010	broad.mit.edu	37	1	48713210	48713210	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:48713210G>C	ENST00000236495.5	+	15	2166	c.2116G>C	c.(2116-2118)Gcg>Ccg	p.A706P	SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A702P|SLC5A9_ENST00000438567.2_Missense_Mutation_p.A681P	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	681						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GGGCTATTTTGCGTGATTCCA	0.488000													7	51					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6597462	6597462	+	Silent	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:6597462C>G	ENST00000433363.2	-	8	1343	c.1110G>C	c.(1108-1110)gtG>gtC	p.V370V	SLC13A5_ENST00000573648.1_Silent_p.V370V|SLC13A5_ENST00000381074.4_Silent_p.V327V|SLC13A5_ENST00000293800.6_Silent_p.V353V	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	370						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCTGTGAAGGCACAATGAATA	0.532000													11	25					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45953699	45953699	+	Silent	SNP	C	C	A	rs140923114		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr21:45953699C>A	ENST00000323084.4	-	3	476	c.411G>T	c.(409-411)acG>acT	p.T137T	TSPEAR_ENST00000397916.1_Silent_p.T69T	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	137	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity	p.T137T(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGCGCCGGCCGTGTCCTCGC	0.682000													5	29					0.00116845	0.00125382	1	1	0
WAS	7454	broad.mit.edu	37	X	48543997	48543997	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:48543997C>A	ENST00000376701.4	+	3	410	c.335C>A	c.(334-336)cCc>cAc	p.P112H	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	112	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACCCCCACCCCCTTCTTCCAC	0.612000			"""Mis, N, F, S"""			lymphoma							3	6					0.00024832	0.000273312	1	1	0
AP5Z1	9907	broad.mit.edu	37	7	4823044	4823044	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr7:4823044C>T	ENST00000348624.4	+	4	558	c.464C>T	c.(463-465)cCc>cTc	p.P155L	AP5Z1_ENST00000401897.1_Missense_Mutation_p.P155L	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	155					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CACCTCCTCCCCGTCATGGCC	0.682000													9	29					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61232707	61232707	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr18:61232707G>T	ENST00000382768.1	+	6	735	c.735G>T	c.(733-735)acG>acT	p.T245T	SERPINB12_ENST00000269491.1_Silent_p.T225T			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	225					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.T225T(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGATGATGACGCAAAAAGGCC	0.488000													34	44					4.74835e-14	6.77959e-14	1	1	0
SERPINI2	5276	broad.mit.edu	37	3	167189440	167189440	+	Silent	SNP	C	C	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:167189440C>G	ENST00000476257.1	-	3	481	c.183G>C	c.(181-183)ctG>ctC	p.L61L	SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_Silent_p.L61L|SERPINI2_ENST00000471111.1_Silent_p.L61L|SERPINI2_ENST00000461846.1_Silent_p.L61L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	61					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CTTTGGCTCCCAGTTGTACCA	0.383000													32	111					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167000059	167000059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr3:167000059C>A	ENST00000392766.2	-	19	2444	c.2104G>T	c.(2104-2106)Gaa>Taa	p.E702*	ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E741*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E741*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E673*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E702*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	702						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTCTTTTTCCAAATTGTCT	0.333000													11	62					4.68919e-08	5.77996e-08	1	1	0
BRSK1	84446	broad.mit.edu	37	19	55815149	55815149	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr19:55815149C>T	ENST00000309383.1	+	12	1518	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	BRSK1_ENST00000590333.1_Missense_Mutation_p.P430L|BRSK1_ENST00000326848.7_Missense_Mutation_p.P109L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	414					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGTGGCTCCCCTGTACCCACC	0.642000													26	27					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23290983	23290983	+	Splice_Site	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr10:23290983G>T	ENST00000298032.5	+	12	1645	c.1562_splice	c.e12+1	p.G521_splice	ARMC3_ENST00000409983.3_Splice_Site_p.G521_splice|ARMC3_ENST00000376528.4_Splice_Site_p.G258_splice|ARMC3_ENST00000409049.3_Splice_Site_p.G521_splice	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	521							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGCAGGCTCGGGTGAGTGGA	0.537000													10	25					5.16669e-11	6.89786e-11	1	1	0
KIF14	9928	broad.mit.edu	37	1	200529853	200529853	+	Silent	SNP	G	G	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:200529853G>T	ENST00000367350.4	-	26	4665	c.4227C>A	c.(4225-4227)gtC>gtA	p.V1409V		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1409	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						AAATTACCTGGACACTGGCAG	0.368000													40	101					9.73076e-26	1.58781e-25	1	1	0
HACE1	57531	broad.mit.edu	37	6	105239521	105239521	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr6:105239521C>A	ENST00000262903.4	-	11	1208	c.932G>T	c.(931-933)aGc>aTc	p.S311I	HACE1_ENST00000369125.2_Missense_Mutation_p.S311I	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	311					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		ATCATAATTGCTAGAGAGGCT	0.318000													16	62					0.000422831	0.000459483	1	1	0
C6	729	broad.mit.edu	37	5	41149523	41149523	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:41149523C>A	ENST00000263413.3	-	17	2707	c.2443G>T	c.(2443-2445)Gct>Tct	p.A815S	C6_ENST00000337836.5_Missense_Mutation_p.A815S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	815	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AACTTACAAGCGGGTGAAGTA	0.418000													49	149					2.77807e-22	4.43456e-22	1	1	0
ZBTB8A	653121	broad.mit.edu	37	1	33060719	33060719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:33060719delC	ENST00000373510.4	+	4	1117	c.888delC	c.(886-888)gafs	p.D296fs	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Frame_Shift_Del_p.D296fs	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GGAAGGCAGACCTAAAGCGCC	0.473													48	49	---	---	---	---					
GBP3	2635	broad.mit.edu	37	1	89473441	89473442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr1:89473441_89473442insT	ENST00000370481.4	-	11	1973_1974	c.1753_1754insA	c.(1753-1755)caafs	p.Q585fs		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	585						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATATCTCTTGGTTTTTTTTTTC	0.371													8	147	---	---	---	---					
ZC3H6	376940	broad.mit.edu	37	2	113082754	113082754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:113082754delG	ENST00000409871.1	+	11	2467	c.2066delG	c.(2065-2067)agfs	p.R689fs	ZC3H6_ENST00000343936.4_Frame_Shift_Del_p.R689fs	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	689							nucleic acid binding|zinc ion binding	p.R689M(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAACCTCATAGGGCACCAAGC	0.443													16	28	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179399326	179399327	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr2:179399326_179399327insT	ENST00000589042.1	-	358	102239_102240	c.102015_102016insA	c.(102013-102018)gtatgtfs	p.C34006fs	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.C31438fs|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.C25133fs|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.C25066fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.C24941fs|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.C32365fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32365	Ig-like 150.						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)			AATAGCACATATACCAGTGTTC	0.436													17	62	---	---	---	---					
IRX2	153572	broad.mit.edu	37	5	2747681	2747681	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:2747681delT	ENST00000382611.6	-	4	1661	c.1413delA	c.(1411-1413)ctfs	p.L471fs	IRX2_ENST00000302057.5_Frame_Shift_Del_p.L471fs	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	471						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGCCCTTCTATAGGTAGGGCT	0.602													9	66	---	---	---	---					
TTC33	23548	broad.mit.edu	37	5	40746906	40746906	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr5:40746906delT	ENST00000337702.4	-	2	367	c.215delA	c.(214-216)atfs	p.N72fs	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	72							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						ATACCTTTTATTTTCAGCCAA	0.353													8	27	---	---	---	---					
OR10W1	81341	broad.mit.edu	37	11	58035235	58035235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr11:58035235delC	ENST00000395079.2	-	1	497	c.96delG	c.(94-96)ggfs	p.G32fs		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TGAGAATGTTCCCAGTGATGA	0.463													17	52	---	---	---	---					
PKP2	5318	broad.mit.edu	37	12	33031881	33031882	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr12:33031881_33031882insG	ENST00000340811.4	-	2	416_417	c.308_309insC	c.(307-309)cgtfs	p.R103fs	PKP2_ENST00000070846.6_Frame_Shift_Ins_p.R103fs	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	103					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTTTAGGAACAGGGGAACGGCC	0.381													18	48	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72992659	72992663	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-	rs143796825		TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr16:72992659_72992663delCTCCT	ENST00000268489.5	-	2	2054_2058	c.1382_1386delAGGAG	c.(1381-1386)gfs	p.EE461fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	461	Poly-Glu.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cctcctccgcctcctcttcGGCTGG	0.585													15	40	---	---	---	---					
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)ggfs	p.R549fs	SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323													9	82	---	---	---	---					
RNMT	8731	broad.mit.edu	37	18	13746312	13746318	+	Frame_Shift_Del	DEL	CTTAAAA	CTTAAAA	-			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chr18:13746312_13746318delCTTAAAA	ENST00000383314.2	+	9	1473_1479	c.1233_1239delCTTAAAA	c.(1231-1239)ctfs	p.LLK411fs	RNMT_ENST00000592764.1_Frame_Shift_Del_p.LLK411fs|RNMT_ENST00000589866.1_Frame_Shift_Del_p.LLK411fs|RNMT_ENST00000535051.1_Frame_Shift_Del_p.LLK169fs|RNMT_ENST00000262173.3_Frame_Shift_Del_p.LLK411fs|RNMT_ENST00000543302.2_Frame_Shift_Del_p.LLK411fs			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	411					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ATAAAATGCTCTTAAAACGAATGCAGG	0.353													10	66	---	---	---	---					
ACRC	93953	broad.mit.edu	37	X	70823527	70823528	+	In_Frame_Ins	INS	-	-	ATG			TCGA-55-A491-01A-11D-A24D-08	TCGA-55-A491-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	949edda8-03b3-458f-913c-8f624325a927	ec26769f-b426-4d7d-9a04-d66689e215ce	g.chrX:70823527_70823528insATG	ENST00000373695.1	+	7	937_938	c.400_401insATG	c.(400-402)tga>ATGtga	p.133_134insM	ACRC_ENST00000373696.3_In_Frame_Ins_p.133_134insM			Q96QF7	ACRC_HUMAN	acidic repeat containing	133	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGACAACGGTAATGATTTGGAA	0.455													11	186	---	---	---	---