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
VIPR2	7434	broad.mit.edu	37	7	158935195	158935195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:158935195G>A	ENST00000262178.2	-	2	279	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	VIPR2_ENST00000402066.1_Nonsense_Mutation_p.Q173*|VIPR2_ENST00000421760.2_Nonsense_Mutation_p.Q32*	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	32					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TCTTCCTCCTGTATTTCCAGA	0.398000													23	99					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26193971	26193971	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:26193971A>G	ENST00000335473.7	+	12	2678	c.2428A>G	c.(2428-2430)Atg>Gtg	p.M810V	MYO18B_ENST00000407587.2_Missense_Mutation_p.M810V|MYO18B_ENST00000536101.1_Missense_Mutation_p.M810V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	810	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAGGGTGCCATGGAGATGCT	0.617000													6	128					0	0	1	0	0
MRPL23	6150	broad.mit.edu	37	11	1977518	1977518	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:1977518G>A	ENST00000397298.3	+	5	415	c.330G>A	c.(328-330)ctG>ctA	p.L110L	MRPL23_ENST00000381519.1_Silent_p.L110L|MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000397294.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	110					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCCCAGATCTGTTTCCCGAGA	0.622000													24	167					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117814457	117814457	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:117814457G>A	ENST00000276204.6	+	49	5547	c.5473G>A	c.(5473-5475)Gag>Aag	p.E1825K	DOCK11_ENST00000276202.7_Missense_Mutation_p.E1825K			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1825	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAATGCCAAAGAGCTTGATCC	0.289000													13	66					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79803505	79803505	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:79803505C>G	ENST00000331483.4	-	9	1513	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	P4HB_ENST00000439918.2_Missense_Mutation_p.E387Q|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	431	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GCCTCCACCTCGTTGGCAGTC	0.582000													4	25					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162692	33162692	+	RNA	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:33162692A>T	ENST00000510327.1	-	0	346																											GGAAGAAGAGATTTTAAACAA	0.473000													4	18					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81888168	81888168	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:81888168G>A	ENST00000359376.3	+	3	527	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	105	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CACTCAGTTCGTCCTCAGCAC	0.498000													35	121					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101333128	101333128	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:101333128G>A	ENST00000392979.3	+	3	452	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	ANO4_ENST00000392977.3_Missense_Mutation_p.E66K|ANO4_ENST00000538618.1_Missense_Mutation_p.E232K|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	66						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGATGAATTAGAAGCTGTCAG	0.413000										HNSCC(74;0.22)			26	74					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228473945	228473945	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:228473945C>T	ENST00000570156.2	+	39	10532	c.10458C>T	c.(10456-10458)ccC>ccT	p.P3486P	OBSCN_ENST00000422127.1_Silent_p.P3057P|OBSCN_ENST00000366707.4_Silent_p.P176P|OBSCN_ENST00000284548.11_Silent_p.P3057P|OBSCN_ENST00000359599.6_Silent_p.P1904P|OBSCN_ENST00000366709.4_Silent_p.P176P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2519	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGCCCAGCCCGGGGGCTACC	0.667000													6	26					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100903457	100903457	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:100903457C>G	ENST00000393437.3	-	11	2628	c.1989G>C	c.(1987-1989)tgG>tgC	p.W663C	LONRF2_ENST00000409647.1_Missense_Mutation_p.W420C	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	663	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GAGACGCGAACCAGGAAACAG	0.498000													10	67					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905979	83905979	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:83905979C>T	ENST00000340417.3	-	2	396	c.19G>A	c.(19-21)Gag>Aag	p.E7K	LIN54_ENST00000505397.1_Missense_Mutation_p.E7K|LIN54_ENST00000442461.2_Missense_Mutation_p.E7K|LIN54_ENST00000506560.1_Missense_Mutation_p.E7K|LIN54_ENST00000395282.2_Missense_Mutation_p.E7K|LIN54_ENST00000510557.1_Missense_Mutation_p.E7K|LIN54_ENST00000446851.2_Missense_Mutation_p.E7K|LIN54_ENST00000395283.2_Missense_Mutation_p.E7K	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	7					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CTATTCACCTCAGCTGGCACC	0.393000													42	104					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532886	113532886	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:113532886G>A	ENST00000257600.3	+	7	1929	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	476					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCATCTACGGGGAGAAGAC	0.652000													14	82					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79804359	79804359	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:79804359C>T	ENST00000331483.4	-	7	1224	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	P4HB_ENST00000439918.2_Silent_p.L290L|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	334					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCTCTGCCGTCAGCTCCTCCG	0.632000													28	129					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			27	32					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40030684	40030684	+	Missense_Mutation	SNP	C	C	A	rs61417992		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:40030684C>A	ENST00000336649.4	+	7	695	c.695C>A	c.(694-696)gCg>gAg	p.A232E	CACNA1I_ENST00000401624.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000402142.3_Missense_Mutation_p.A232E|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A232E			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	232					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGCTCTGGGCGGGCCTGCTG	0.562000													21	134					3.62473e-10	3.81551e-10	1	1	0
RAB20	55647	broad.mit.edu	37	13	111176499	111176499	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:111176499G>A	ENST00000267328.3	-	2	431	c.218C>T	c.(217-219)gCg>gTg	p.A73V		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	73					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GATGGCGGCCGCCCCCCGGCA	0.607000													29	81					0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96053848	96053848	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:96053848G>A	ENST00000358812.4	+	5	1090	c.956G>A	c.(955-957)gGa>gAa	p.G319E	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	319	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GGTTTTGATGGAATTTACACA	0.338000													10	40					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100991351	100991351	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:100991351C>G	ENST00000375066.5	-	5	952	c.861G>C	c.(859-861)caG>caC	p.Q287H	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.Q287H|TBC1D2_ENST00000342112.5_Missense_Mutation_p.Q69H	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	287						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGTGTTGTTCTGGCGCTTGG	0.532000													14	89					0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	377161	377161	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:377161G>A	ENST00000217233.3	+	4	1457	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	TRIB3_ENST00000422053.2_Missense_Mutation_p.E329K	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	302	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGAGCCAGCTGAACGGCTCAC	0.687000													17	101					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30675515	30675515	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:30675515C>T	ENST00000376406.3	-	8	3488	c.2841G>A	c.(2839-2841)caG>caA	p.Q947Q	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	947				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GCTCCCCTCTCTGTGTATCTC	0.592000								Other conserved DNA damage response genes					24	98					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111019559	111019559	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:111019559T>C	ENST00000262839.2	-	11	3822	c.2904A>G	c.(2902-2904)caA>caG	p.Q968Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	968					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGTTGTAACTTGTTCTTCCT	0.423000													5	62					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316731	203316731	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:203316731C>T	ENST00000354955.4	-	2	1131	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	223					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GATCAGTGACCGGAGGCCCCT	0.567000													72	189					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150923371	150923371	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:150923371A>G	ENST00000271640.5	+	13	2208	c.2018A>G	c.(2017-2019)tAt>tGt	p.Y673C	SETDB1_ENST00000368969.4_Missense_Mutation_p.Y673C|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCAGCCCTATAAGCCTTTT	0.463000													35	83					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56647181	56647181	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:56647181C>T	ENST00000267116.7	-	10	1112	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	331							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CAATCAATCTCGCTGCCTGTG	0.532000													17	72					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819326	12819326	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:12819326G>A	ENST00000379672.5	+	5	685	c.385G>A	c.(385-387)Gag>Aag	p.E129K	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E129K|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E129K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	129	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TTTGCTGGCGGAGGTAAGCAG	0.512000													8	26					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70070717	70070717	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:70070717G>A	ENST00000330891.5	-	7	1072	c.846C>T	c.(844-846)ttC>ttT	p.F282F	BEST3_ENST00000553096.1_Silent_p.F176F|BEST3_ENST00000331471.4_Silent_p.F282F|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000488961.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	282						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGCATAGAAGAAGAATTGTA	0.473000													28	147					0	0	1	0	0
COX7B2	170712	broad.mit.edu	37	4	46737107	46737107	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:46737107G>C	ENST00000396533.1	-	4	353	c.103C>G	c.(103-105)Cat>Gat	p.H35D	COX7B2_ENST00000543208.1_Missense_Mutation_p.H34D|COX7B2_ENST00000302930.5_Missense_Mutation_p.H35D|COX7B2_ENST00000355591.3_Missense_Mutation_p.H35D			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	35						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						TATTTATCATGAAAATCTGGT	0.423000													8	76					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17487766	17487766	+	Missense_Mutation	SNP	C	C	T	rs144117840		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17487766C>T	ENST00000252590.4	-	1	393	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	111						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCATTGATGCGGTCCAGGTC	0.637000													12	66					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139838425	139838425	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:139838425G>A	ENST00000297183.6	+	8	1582	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	ANKHD1_ENST00000394722.3_Missense_Mutation_p.M475I|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.M486I|ANKHD1_ENST00000360839.2_Missense_Mutation_p.M486I|ANKHD1_ENST00000394723.3_Missense_Mutation_p.M486I	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAGAAATGGTGGCACTAC	0.398000													11	79					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37465272	37465272	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:37465272C>G	ENST00000381792.2	-	16	2094	c.1954G>C	c.(1954-1956)Gaa>Caa	p.E652Q	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E652Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E652Q|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E661Q			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	661	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGTCCTCTTCGTGGTACGGG	0.692000													4	21					0	0	1	0	0
VAPA	9218	broad.mit.edu	37	18	9931810	9931810	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr18:9931810C>T	ENST00000400000.2	+	2	338	c.83C>T	c.(82-84)cCc>cTc	p.P28L	VAPA_ENST00000340541.4_Missense_Mutation_p.P28L|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	28	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						TTTACAGGCCCCTTCACAGAT	0.333000													21	88					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110581817	110581817	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:110581817C>T	ENST00000369795.3	+	4	371	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	STRIP1_ENST00000369796.1_Silent_p.L22L|STRIP1_ENST00000369794.2_Silent_p.L117L	NM_033088.3	NP_149079.2			striatin interacting protein 1																		GTGGACTGAGCTGGATACCAA	0.517000													13	46					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137590506	137590506	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:137590506G>A	ENST00000330387.6	-	6	1208	c.857C>T	c.(856-858)cCc>cTc	p.P286L	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P286L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	286					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TTTTGACAGGGGCAATTTGGT	0.522000			T	FUS	fibromyxoid sarcoma								34	161					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18174767	18174767	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:18174767C>T	ENST00000600835.2	-	14	1835	c.1537G>A	c.(1537-1539)Ggt>Agt	p.G513S	IL12RB1_ENST00000593993.2_Missense_Mutation_p.G513S			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TAGGCTACACCAGCCCGCAGG	0.637000													6	29					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524597	51524597	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:51524597T>C	ENST00000371117.3	-	61	10602	c.10327A>G	c.(10327-10329)Agt>Ggt	p.S3443G		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3443					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCATTTACACTGCTAAAGACA	0.413000													27	101					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7770734	7770734	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:7770734G>A	ENST00000420658.1	-	17	2527	c.2255C>T	c.(2254-2256)tCt>tTt	p.S752F	AFAP1_ENST00000358461.2_Splice_Site_p.S668F|AFAP1_ENST00000360265.4_Splice_Site_p.S668F|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000382543.3_Splice_Site_p.S752F|AFAP1_ENST00000513842.1_5'UTR	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	668						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GAACACTGGAGACTTAACGGA	0.547000													32	175					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906301	12906301	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:12906301G>C	ENST00000380659.3	+	3	2813	c.2674G>C	c.(2674-2676)Gat>Cat	p.D892H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	892	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTGTTGCTATGATGCTTTTAT	0.433000													29	187					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20832925	20832925	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr18:20832925C>A	ENST00000256925.7	+	8	1448	c.1448C>A	c.(1447-1449)aCa>aAa	p.T483K	CABLES1_ENST00000420687.2_Splice_Site_p.T218K|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Splice_Site_p.T156K|TMEM241_ENST00000450466.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	483	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGTTACAGACAACAGTGATT	0.438000													11	44					5.50884e-06	5.66329e-06	1	1	0
PMEL	6490	broad.mit.edu	37	12	56349288	56349288	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:56349288G>C	ENST00000548747.1	-	9	2384	c.1722C>G	c.(1720-1722)acC>acG	p.T574T	PMEL_ENST00000550464.1_Silent_p.T488T|PMEL_ENST00000548493.1_Silent_p.T574T|PMEL_ENST00000536427.1_Silent_p.T532T|PMEL_ENST00000360714.4_Silent_p.T574T|PMEL_ENST00000539511.1_Silent_p.T488T|PMEL_ENST00000552882.1_Silent_p.T574T|PMEL_ENST00000449260.2_Silent_p.T574T|PMEL_ENST00000550447.1_Silent_p.T203T			P40967	PMEL_HUMAN	premelanosome protein	574					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGGCTGTTGGTATCAGCCA	0.582000													16	73					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84651768	84651768	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:84651768C>T	ENST00000284136.6	-	11	1396	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	451	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCACCACTATCTGTGTCAGTC	0.403000													34	160					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635933	44635933	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:44635933G>C	ENST00000322734.2	+	3	581	c.248G>C	c.(247-249)tGt>tCt	p.C83S	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGTAAGGAGTGTGGAAAAGCT	0.443000													15	44					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44378165	44378165	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:44378165C>T	ENST00000587539.1	-	3	200	c.201G>A	c.(199-201)gcG>gcA	p.A67A	ZNF404_ENST00000324394.6_Silent_p.A65A	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CCTGATGGTACGCATTTACTT	0.318000													11	51					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8483449	8483449	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:8483449C>A	ENST00000447869.1	-	4	1379	c.461G>T	c.(460-462)aGc>aTc	p.S154I	STK33_ENST00000315204.1_Missense_Mutation_p.S154I|STK33_ENST00000396673.1_Missense_Mutation_p.S154I|STK33_ENST00000396672.1_Missense_Mutation_p.S154I|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.S113I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	154	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CACAGCAGAGCTTCCAGCCTT	0.338000													11	39					4.84862e-15	5.2289e-15	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72186022	72186022	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:72186022C>G	ENST00000356056.5	-	26	5612	c.5140G>C	c.(5140-5142)Gag>Cag	p.E1714Q	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1695Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1714Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1714Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1714	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAACTTACCTCTCTTTGGCCT	0.368000													7	34					0	0	1	0	0
ISOC1	51015	broad.mit.edu	37	5	128430720	128430720	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:128430720C>T	ENST00000173527.5	+	1	277	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	87						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CCAAGGGCTTCGCGGTGAGCG	0.667000													4	23					0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68603838	68603838	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:68603838G>A	ENST00000396496.2	-	5	578	c.471C>T	c.(469-471)gcC>gcT	p.A157A	CCDC125_ENST00000383374.2_Silent_p.A156A|CCDC125_ENST00000511257.1_Silent_p.A32A|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000396499.1_Silent_p.A157A			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	157						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TATGACTTGTGGCTTTGCCCA	0.333000													7	47					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37379600	37379600	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:37379600C>T	ENST00000265107.4	+	2	191	c.35C>T	c.(34-36)tCa>tTa	p.S12L	WDR70_ENST00000504564.1_Missense_Mutation_p.S12L	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	12										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGACAGGCTCAGACGCGTCG	0.662000													23	93					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227921241	227921241	+	Silent	SNP	G	G	A	rs117793265	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:227921241G>A	ENST00000366758.3	-	4	833	c.834C>T	c.(832-834)tcC>tcT	p.S278S	SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Silent_p.S278S|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	278	JmjC.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				AGAGTGCTGGGGAGGTCACGT	0.642000													21	61					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866027	139866027	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:139866027G>C	ENST00000370532.2	-	1	696	c.505C>G	c.(505-507)Cgt>Ggt	p.R169G		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	169	6 X 6 AA approximate repeats.							p.R169C(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GAAAATCCACGTCTTCCCAAC	0.423000													63	266					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74774367	74774367	+	Missense_Mutation	SNP	C	C	T	rs3198672		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:74774367C>T	ENST00000588460.1	+	13	3325	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	MFSD11_ENST00000336509.4_Missense_Mutation_p.S428F|MFSD11_ENST00000355954.3_Missense_Mutation_p.S376F|MFSD11_ENST00000593181.1_Missense_Mutation_p.S376F|MFSD11_ENST00000586622.1_Missense_Mutation_p.S428F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000590514.1_Missense_Mutation_p.S428F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	428			S -> F (in dbSNP:rs3198672).			integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GGAACAATTTCTTTCTTCACT	0.493000													11	79					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100566463	100566463	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:100566463G>A	ENST00000471714.1	-	19	1761	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P551L|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P502L			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	502	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTCCATGTAGGTTCAGGGCT	0.373000													86	113					0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186512453	186512453	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:186512453C>T	ENST00000392481.2	-	5	685	c.404G>A	c.(403-405)cGc>cAc	p.R135H	RFC4_ENST00000433496.1_Missense_Mutation_p.R135H|RFC4_ENST00000296273.2_Missense_Mutation_p.R135H	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	135					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTACTCTGAGCGACTTCCTGA	0.383000													13	56					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124249040	124249040	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:124249040G>A	ENST00000368984.3	+	3	803	c.675G>A	c.(673-675)aaG>aaA	p.K225K		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	225	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGACCAACAAGCACCGGGTCA	0.498000													4	80					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41388442	41388442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:41388442G>A	ENST00000361937.3	-	2	491	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	INO80_ENST00000401393.3_Nonsense_Mutation_p.Q23*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	23	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCCAAGTACTGAAGATAGAGG	0.483000													5	51					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611479	17611479	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:17611479T>G	ENST00000381869.3	-	2	2311	c.1838A>C	c.(1837-1839)gAa>gCa	p.E613A	MTUS1_ENST00000519263.1_Missense_Mutation_p.E613A|MTUS1_ENST00000381862.3_Missense_Mutation_p.E613A|MTUS1_ENST00000262102.6_Missense_Mutation_p.E613A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	613						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTCAACATCTTCCTGATTCGA	0.428000													33	125					0	0	1	0	0
MRTO4	51154	broad.mit.edu	37	1	19584362	19584362	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:19584362G>C	ENST00000330263.4	+	6	674	c.377G>C	c.(376-378)cGa>cCa	p.R126P		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	126					ribosome biogenesis	nuclear membrane|nucleolus		p.R126Q(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GACTACGCCCGAGCTGGTAAC	0.592000													23	123					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24808466	24808466	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:24808466C>G	ENST00000216274.5	-	3	444	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	76	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ATAACCCCTTCTAGGCGCAGC	0.572000													22	91					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39727637	39727637	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:39727637G>A	ENST00000246662.4	-	1	673	c.608C>T	c.(607-609)cCt>cTt	p.P203L	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	203	Linker 1.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GTTATAATAAGGGGAGTAGTT	0.443000													30	143					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252654	124252654	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:124252654C>T	ENST00000375013.2	-	1	604	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACAACCACCTCGTTGACATAG	0.433000													18	83					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723522	48723522	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:48723522G>A	ENST00000335017.1	+	1	760	c.448G>A	c.(448-450)Gcg>Acg	p.A150T		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	150	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	p.A150T(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GACCCCAGCCGCGCCCCGGAG	0.706000													7	24					0	0	1	0	0
NDUFA12	55967	broad.mit.edu	37	12	95397387	95397387	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:95397387G>T	ENST00000327772.2	-	1	159	c.70C>A	c.(70-72)Cta>Ata	p.L24I	NDUFA12_ENST00000547986.1_Missense_Mutation_p.L24I|NDUFA12_ENST00000547157.1_Missense_Mutation_p.L24I	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	24					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	AAAACCCGTAGATAGCCTCGG	0.637000													30	168					5.91797e-21	6.44531e-21	1	1	0
FAT1	2195	broad.mit.edu	37	4	187540391	187540391	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:187540391G>C	ENST00000441802.2	-	10	7558	c.7349C>G	c.(7348-7350)tCa>tGa	p.S2450*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2450	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.S2450*(2)|p.S2453*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCAGGTTTGAGAGGGTGAT	0.433000										HNSCC(5;0.00058)			25	136					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94857556	94857556	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:94857556C>T	ENST00000357742.4	+	2	511	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.H171Y|MCTP2_ENST00000543482.1_Missense_Mutation_p.H171Y	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	171					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACATCTCAACATTTTGAAGA	0.318000													4	21					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104158221	104158221	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:104158221G>A	ENST00000369966.3	+	11	1182	c.932G>A	c.(931-933)cGc>cAc	p.R311H	NFKB2_ENST00000428099.1_Missense_Mutation_p.R311H|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Missense_Mutation_p.R311H	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	311	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CAACTGAAACGCAAGCGAGGA	0.577000			T	IGH@	B-NHL								4	111					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131760889	131760889	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:131760889C>T	ENST00000372577.2	+	32	3523	c.3502C>T	c.(3502-3504)Cgg>Tgg	p.R1168W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1168					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TATCCTCCTCCGGCAGTGGAA	0.567000													14	90					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)		GGCAAAACATCTTGTTGAGGG	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)			11	54					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		AGATTCTCTTCCTCTGTGCGC	0.557000		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	53					6.94344e-10	7.27408e-10	1	1	0
TLN2	83660	broad.mit.edu	37	15	62993399	62993399	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:62993399T>G	ENST00000561311.1	+	16	1912	c.1682T>G	c.(1681-1683)gTt>gGt	p.V561G	TLN2_ENST00000306829.6_Missense_Mutation_p.V561G			Q9Y4G6	TLN2_HUMAN	talin 2	561					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTTCAGTTGTTAACCTCACA	0.403000													5	43					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139754396	139754396	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:139754396C>G	ENST00000445819.1	+	28	3539	c.3489C>G	c.(3487-3489)ctC>ctG	p.L1163L	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.L1084L			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	1163					protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCCTATTGCTCATGCTCCTGG	0.647000													16	32					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691783	31691783	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:31691783T>A	ENST00000360542.3	-	1	824	c.571A>T	c.(571-573)Agt>Tgt	p.S191C		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	191						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						TGGCAACCACTGAACAGAGGC	0.532000													54	314					0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68616398	68616398	+	Translation_Start_Site	SNP	A	A	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:68616398A>C	ENST00000511257.1	-	0	38				CCDC125_ENST00000383374.2_De_novo_Start_InFrame|CCDC125_ENST00000396496.2_De_novo_Start_InFrame|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_De_novo_Start_InFrame			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125							cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CATAAGAAAAAATGGGCTGTC	0.413000													11	25					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108092	151108092	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:151108092C>G	ENST00000341697.3	-	14	3099	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	470	Sema.					integral to membrane	receptor activity	p.E470Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCATCAATCTCTTCCAGGAGG	0.602000													67	122					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360474	16360474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:16360474G>A	ENST00000354981.2	-	19	2330	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.Q725*|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.Q725*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	725	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGAAATATCTGAAACTTCTCA	0.443000													29	108					0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140174221	140174221	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:140174221C>G	ENST00000357503.2	+	2	1276	c.1080C>G	c.(1078-1080)atC>atG	p.I360M		NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN	torsin family 4, member A	360					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										CCGCGGCCATCGTGCCGTTTC	0.697000													8	10					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366260	7366260	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7366260C>T	ENST00000311403.4	-	4	2380	c.2041G>A	c.(2041-2043)Ggt>Agt	p.G681S	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G681S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ACACTGGCACCTCCAGCAGCT	0.662000													5	184					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686559	5686559	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:5686559C>T	ENST00000305836.5	-	8	1264	c.962G>A	c.(961-963)aGc>aAc	p.S321N	TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000380034.3_Missense_Mutation_p.S321N|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_5'UTR			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	321	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCGGAGAGCTCACTTGTCT	0.408000													13	69					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	336580	336580	+	Splice_Site	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:336580A>T	ENST00000432829.2	+	12	1397		c.e12-1		DOCK8_ENST00000453981.1_Splice_Site|DOCK8_ENST00000469391.1_Splice_Site	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTTTTCTTAAAGGGAGAAGCT	0.423000													13	51					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483149	32483149	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:32483149C>T	ENST00000359872.6	-	1	1164	c.403G>A	c.(403-405)Gag>Aag	p.E135K		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	135					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.E135Q(1)								Amiloride(DB00594)	CGCAGGGCCTCCAGCACGGAG	0.597000													26	119					0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110567226	110567226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:110567226G>A	ENST00000338882.4	-	5	1023	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	CDC40_ENST00000368930.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	342						extracellular region											AAGAATAGCTGAGGTTTAGAT	0.403000													15	90					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22094533	22094533	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:22094533G>C	ENST00000379374.4	+	4	942	c.377G>C	c.(376-378)aGg>aCg	p.R126T	PHEX_ENST00000537599.1_Missense_Mutation_p.R126T|PHEX_ENST00000535894.1_Missense_Mutation_p.R29T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	126					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATCAGTAGAAGGCGGGACACC	0.383000													5	35					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124383508	124383508	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:124383508C>G	ENST00000287394.5	-	5	714	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCCAAGTCTTCAAGTTCTCTC	0.308000													8	28					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440274	145440274	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145440274G>A	ENST00000369317.4	+	5	914	c.580G>A	c.(580-582)Gag>Aag	p.E194K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	194					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.E194K(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGGTGATGAGATTTCCAT	0.478000													21	149					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25885648	25885648	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:25885648C>G	ENST00000376351.3	+	10	2434	c.2075C>G	c.(2074-2076)tCt>tGt	p.S692C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	692						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATGGGCCGATCTGGATCCTAC	0.443000													14	42					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39047685	39047685	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:39047685C>T	ENST00000331366.5	-	20	1790	c.1694G>A	c.(1693-1695)tGa>tAa	p.*565*	CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_Silent_p.*234*|CPNE8_ENST00000360449.3_Silent_p.*553*	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	0										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AGAGCACAGTCATATTTGAGT	0.458000													7	30					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771657	99771657	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:99771657C>T	ENST00000370185.3	+	7	1880	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	LPPR4_ENST00000457765.1_Silent_p.S403S|LPPR4_ENST00000370184.1_Silent_p.S303S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		461							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAAAGTTGTCCTTGCAAGTTA	0.502000													39	94					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653304	55653304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:55653304G>T	ENST00000449290.2	+	2	492	c.400G>T	c.(400-402)Gag>Tag	p.E134*		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	134						intracellular	zinc ion binding										GTGGGCTGCTGAGGAACGCCG	0.478000													7	36					2.0095e-06	2.07554e-06	1	1	0
PICK1	9463	broad.mit.edu	37	22	38470962	38470962	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:38470962C>G	ENST00000404072.3	+	13	1418	c.1071C>G	c.(1069-1071)gtC>gtG	p.V357V	PICK1_ENST00000356976.3_Silent_p.V357V	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	357	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					ATGCCGACGTCTTCCCCATCG	0.607000													16	59					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													3	38					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172517948	172517948	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:172517948C>T	ENST00000540014.1	+	4	1085	c.766C>T	c.(766-768)Cac>Tac	p.H256Y	CREBRF_ENST00000296953.2_Missense_Mutation_p.H256Y|CREBRF_ENST00000520420.1_Missense_Mutation_p.H256Y|CREBRF_ENST00000522692.1_Missense_Mutation_p.H256Y			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	256							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GAGCCAGATTCACACAGATGC	0.468000													14	56					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38854693	38854693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:38854693C>T	ENST00000359357.3	+	55	7989	c.7735C>T	c.(7735-7737)Cga>Tga	p.R2579*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2543*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R2796*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGGAGGTGGTCGAAATGATAT	0.378000													20	72					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40594185	40594185	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:40594185G>C	ENST00000260402.3	-	7	804	c.555C>G	c.(553-555)ctC>ctG	p.L185L	PLCB2_ENST00000543785.2_Silent_p.L185L|PLCB2_ENST00000456256.2_Silent_p.L185L|PLCB2_ENST00000557821.1_Silent_p.L185L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	185					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCACTGAGAGCAGCTT	0.567000													15	62					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50117981	50117981	+	RNA	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:50117981C>T	ENST00000376025.2	-	0	3548							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGCTTTTCATCCAGGAAAGCT	0.473000													5	26					0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18547041	18547041	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:18547041G>A	ENST00000338128.8	-	7	993	c.776C>T	c.(775-777)tCg>tTg	p.S259L	ISYNA1_ENST00000578963.1_Missense_Mutation_p.S131L|ISYNA1_ENST00000457269.4_Missense_Mutation_p.S205L|ISYNA1_ENST00000545187.1_Missense_Mutation_p.S109L|ISYNA1_ENST00000317018.6_Missense_Mutation_p.S57L	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1						inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CGTGGAGGGCGACACCTCCAG	0.677000													7	48					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154732170	154732170	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:154732170G>C	ENST00000607772.1	-	11	1721	c.1177C>G	c.(1177-1179)Cgg>Ggg	p.R393G	CNKSR3_ENST00000433165.2_Missense_Mutation_p.R218G|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R313G	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	393	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTTCGTCTCCGGCTTTCCTGG	0.483000													14	150					0	0	1	0	0
LGALS9C	654346	broad.mit.edu	37	17	18394613	18394613	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:18394613G>A	ENST00000328114.6	+	7	684	c.603G>A	c.(601-603)caG>caA	p.Q201Q	LGALS9C_ENST00000412421.2_Silent_p.Q113Q|LGALS9C_ENST00000581545.1_Silent_p.Q169Q|LGALS9C_ENST00000583322.1_Silent_p.Q169Q|LGALS9C_ENST00000584941.1_Silent_p.Q157Q	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	201							sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						ACACGGTGCAGAGTGCCTCTG	0.542000													30	168					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179947	124179947	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:124179947C>T	ENST00000357821.2	-	1	786	c.716G>A	c.(715-717)gGa>gAa	p.G239E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTGCATGTTCCAAAAGCTTT	0.517000													17	57					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78399233	78399233	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:78399233G>T	ENST00000278550.7	-	29	5588	c.5126C>A	c.(5125-5127)cCt>cAt	p.P1709H		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CTGGCCAGTAGGGAAGGTCAC	0.507000													31	182					2.81731e-10	2.97985e-10	1	1	0
PTPN14	5784	broad.mit.edu	37	1	214567095	214567095	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:214567095A>C	ENST00000366956.5	-	10	1066	c.872T>G	c.(871-873)aTt>aGt	p.I291S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	291	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAACCGAGAAATATACTTGGC	0.343000													20	67					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718791	101718791	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:101718791G>A	ENST00000254190.3	-	3	1686	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	404					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCGTCCAAGGCTTCCCTCTG	0.532000													19	91					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840032	128840032	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:128840032C>T	ENST00000310343.9	-	22	5033	c.5034G>A	c.(5032-5034)ttG>ttA	p.L1678L	ARHGAP32_ENST00000527272.1_Silent_p.L1329L|ARHGAP32_ENST00000392657.3_Silent_p.L1329L|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1678	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAAGGGGTCTCAACTGGACTG	0.512000													23	103					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49649227	49649227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:49649227G>T	ENST00000334186.4	+	22	3122	c.2773G>T	c.(2773-2775)Gag>Tag	p.E925*	PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.E925*	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	925						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GATGACACACGAGGAGATGGA	0.647000											OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	130					1.64293e-13	1.75459e-13	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33142356	33142356	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:33142356C>T	ENST00000341947.2	-	31	2605	c.2378G>A	c.(2377-2379)gGc>gAc	p.G793D	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Splice_Site_p.G686D|COL11A2_ENST00000374708.4_Splice_Site_p.G707D|COL11A2_ENST00000374713.1_Splice_Site_p.G746D|COL11A2_ENST00000374714.1_Splice_Site_p.G767D|COL11A2_ENST00000374712.1_Splice_Site_p.G712D|COL11A2_ENST00000395197.1_Splice_Site_p.G733D|COL11A2_ENST00000357486.1_Splice_Site_p.G772D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	793	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCCAGCTTGCCCTGTGGAGG	0.617000													3	37					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704110	131704110	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:131704110C>T	ENST00000409359.1	+	4	4095	c.2897C>T	c.(2896-2898)cCa>cTa	p.P966L	ARHGEF4_ENST00000428230.2_Missense_Mutation_p.P110L|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.P110L|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.P110L|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.P110L|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.P110L			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	110					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)		ATTACCTCTCCAGAGTCTTTG	0.522000													18	129					0	0	1	0	0
POU4F1	5457	broad.mit.edu	37	13	79176005	79176005	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:79176005C>G	ENST00000377208.5	-	2	1016	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	269	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GCGAACGCCTCGAGCTCGCGC	0.756000													5	23					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27706492	27706492	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:27706492G>C	ENST00000260570.3	-	6	540	c.437C>G	c.(436-438)tCt>tGt	p.S146C	IFT172_ENST00000359466.6_Missense_Mutation_p.S146C|IFT172_ENST00000416524.2_Missense_Mutation_p.S125C	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	146					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATAGATGGTAGATGATTTATT	0.368000													16	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179666927	179666927	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:179666927T>C	ENST00000589042.1	-	3	457	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	TTN_ENST00000342992.6_Missense_Mutation_p.Y78C|TTN_ENST00000359218.5_Missense_Mutation_p.Y78C|TTN_ENST00000460472.2_Missense_Mutation_p.Y78C|TTN_ENST00000360870.5_Missense_Mutation_p.Y78C|TTN_ENST00000342175.6_Missense_Mutation_p.Y78C|TTN_ENST00000591111.1_Missense_Mutation_p.Y78C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	78	Ig-like 1.						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)			TTTCAGGGAATATCGTCCACT	0.562000													21	108					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21486650	21486650	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:21486650G>C	ENST00000556147.1	-	13	1767	c.827C>G	c.(826-828)tCa>tGa	p.S276*	NDRG2_ENST00000555158.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000298684.5_Nonsense_Mutation_p.S233*|NDRG2_ENST00000553503.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000397851.2_Nonsense_Mutation_p.S276*|NDRG2_ENST00000554143.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000350792.3_Nonsense_Mutation_p.S262*|NDRG2_ENST00000360463.3_Nonsense_Mutation_p.S262*|NDRG2_ENST00000554104.1_Nonsense_Mutation_p.S189*|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397847.2_Nonsense_Mutation_p.S265*|NDRG2_ENST00000397853.3_Nonsense_Mutation_p.S276*|NDRG2_ENST00000298687.5_Nonsense_Mutation_p.S276*|NDRG2_ENST00000397855.3_Nonsense_Mutation_p.S233*|NDRG2_ENST00000403829.3_Nonsense_Mutation_p.S272*|NDRG2_ENST00000397858.1_Nonsense_Mutation_p.S276*			Q9UN36	NDRG2_HUMAN	NDRG family member 2	276					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GTCCAGTTTTGAGTTACATTC	0.577000													8	31					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45389127	45389127	+	Silent	SNP	G	G	A	rs115875072	byFrequency	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:45389127G>A	ENST00000398063.2	+	4	969	c.477G>A	c.(475-477)ctG>ctA	p.L159L	AGPAT3_ENST00000398061.1_Silent_p.L159L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Silent_p.L159L|AGPAT3_ENST00000546158.1_Silent_p.L159L|AGPAT3_ENST00000327505.2_Silent_p.L159L|AGPAT3_ENST00000398058.1_Silent_p.L159L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	159					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCGAAGGGCTGAGGCGCCTGT	0.632000													29	86					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111580178	111580178	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:111580178G>A	ENST00000428084.1	-	11	1236	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	DOCK4_ENST00000437633.1_Silent_p.L322L|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	322					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TATACTTTCAGAATGAGGTCA	0.493000													12	67					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145438895	145438895	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145438895G>C	ENST00000369317.4	+	1	427	c.93G>C	c.(91-93)gtG>gtC	p.V31V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	31					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGCCGGGTGATAGTGGAGG	0.517000													7	91					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64132828	64132828	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:64132828G>A	ENST00000295902.6	-	7	1923	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	PRICKLE2_ENST00000564377.1_Silent_p.F502F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	446						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGGGGTTGCTGAAGTGCTTGC	0.582000													30	79					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54870186	54870186	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:54870186C>G	ENST00000333896.5	+	18	4271	c.3886C>G	c.(3886-3888)Ctg>Gtg	p.L1296V	SPTBN1_ENST00000356805.4_Missense_Mutation_p.L1309V	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1309					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCCAGAAATCTGCACAGTAA	0.413000													18	92					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67414351	67414351	+	Missense_Mutation	SNP	G	G	C	rs145934175		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:67414351G>C	ENST00000255082.3	-	3	334	c.164C>G	c.(163-165)cCg>cGg	p.P55R	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	55					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TGTGGCTGCCGGGTTGGCCAG	0.662000													8	24					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476791	17476791	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17476791C>T	ENST00000252590.4	-	3	544	c.483G>A	c.(481-483)ctG>ctA	p.L161L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	161						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTTCTGATTCAGCATGAAGA	0.572000													12	58					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250913	140250913	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:140250913G>A	ENST00000398640.2	+	1	2225	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCTCCCGCGCGGTGGGG	0.677000													15	56					0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5123174	5123174	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:5123174T>C	ENST00000262374.5	+	3	338	c.307T>C	c.(307-309)Tac>Cac	p.Y103H	ALG1_ENST00000588623.1_5'UTR|ALG1_ENST00000544428.1_5'UTR	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	103					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AGTTTTCCAGTACGGAGTCAA	0.517000													15	50					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864366	153864366	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:153864366G>A	ENST00000511601.1	+	2	345	c.157G>A	c.(157-159)Gag>Aag	p.E53K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E53K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	53					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TTCAAGGGAAGAGTGTCCTTC	0.607000													6	18					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210736	126210736	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:126210736C>T	ENST00000368357.3	+	10	1888	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	NCOA7_ENST00000392477.2_Silent_p.N512N|NCOA7_ENST00000229634.9_Silent_p.N397N	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	512					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACACACTGAACATACATGAAG	0.388000													14	63					0	0	1	0	0
NDUFA13	51079	broad.mit.edu	37	19	19640241	19640241	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:19640241C>G	ENST00000512771.3	+	6	504	c.494C>G	c.(493-495)tCc>tGc	p.S165C	CTC-260F20.3_ENST00000555938.1_Intron|YJEFN3_ENST00000436027.5_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000514277.4_Missense_Mutation_p.S43C|YJEFN3_ENST00000608404.1_Intron					NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GCTACCACCTCCCTTGTCCAG	0.597000													9	44					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371331	33371331	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr21:33371331G>A	ENST00000270112.2	+	11	2339	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	660					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTGAAAAGCCGAGGCCGGTTC	0.612000													16	97					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73070139	73070139	+	RNA	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:73070139G>C	ENST00000429829.1	-	0	2449					NR_001564.2																						AATTTGTAATGAGAAGCTAAA	0.259000													5	27					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79609675	79609675	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:79609675C>G	ENST00000263849.4	+	6	640	c.538C>G	c.(538-540)Cct>Gct	p.P180A	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	180																	GTCAAATTCTCCTGGAACTGC	0.368000													9	55					0	0	1	0	0
CD69	969	broad.mit.edu	37	12	9913402	9913402	+	Silent	SNP	A	A	G	rs149884332	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:9913402A>G	ENST00000228434.3	-	1	95	c.15T>C	c.(13-15)aaT>aaC	p.N5N	CD69_ENST00000536709.1_Silent_p.N5N	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	5						integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTACGAAACAATTTTCAGAGC	0.408000													14	88					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625970	29625970	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:29625970C>G	ENST00000278882.3	+	5	594	c.214C>G	c.(214-216)Cca>Gca	p.P72A	FRG1B_ENST00000439954.2_Missense_Mutation_p.P77A|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72A																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACAATGGGAACCAGTCTTTCA	0.333000													7	103					0	0	1	0	0
TAF12	6883	broad.mit.edu	37	1	28931969	28931969	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:28931969C>T	ENST00000263974.4	-	5	799	c.365G>A	c.(364-366)cGc>cAc	p.R122H	TAF12_ENST00000471683.1_5'UTR|TAF12_ENST00000373824.4_Missense_Mutation_p.R122H	NM_001135218.1	NP_001128690.1	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa	122					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|upper_aerodigestive_tract(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCCACTGGCGCTCTGCAAG	0.512000													14	80					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122670812	122670812	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:122670812G>A	ENST00000339777.4	+	3	515	c.487G>A	c.(487-489)Gag>Aag	p.E163K	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	163										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCGAATCAAGGAGGTGGATGC	0.562000													3	11					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118382708	118382708	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:118382708C>G	ENST00000534358.1	+	31	11137	c.11114C>G	c.(11113-11115)tCa>tGa	p.S3705*	RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.S3702*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S3664*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAAGCTCGATCAAATGCCCGC	0.428000													7	38					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9637283	9637283	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:9637283G>A	ENST00000310823.3	-	14	1925	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	581	Cys-rich.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCTCTCGCAGAAAGGGATGC	0.507000													31	79					0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7557218	7557218	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:7557218G>A	ENST00000250111.4	+	3	708	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	101					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CAGTGACACTGAAAGCTGGGA	0.498000													19	84					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6484078	6484078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:6484078C>A	ENST00000360168.3	-	1	312	c.49G>T	c.(49-51)Gag>Tag	p.E17*	SCNN1A_ENST00000543768.1_Intron|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000358945.3_5'UTR|SCNN1A_ENST00000228916.2_Intron	NM_001159576.1	NP_001153048.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	22					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TGAGTGCCCTCTCCCATCACC	0.652000													4	21					0.00024832	0.000252919	1	1	0
GLRA2	2742	broad.mit.edu	37	X	14550396	14550396	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:14550396G>C	ENST00000218075.4	+	2	634	c.104G>C	c.(103-105)gGa>gCa	p.G35A	GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.G35A	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	35					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCCAGGTCTGGAAAACAACCT	0.413000													21	78					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68956794	68956794	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:68956794G>C	ENST00000288368.4	+	8	1189	c.912G>C	c.(910-912)gtG>gtC	p.V304V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	304	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACACGGAGGTGATGGAAGTGG	0.413000													13	120					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819241	12819241	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:12819241G>C	ENST00000379672.5	+	5	600	c.300G>C	c.(298-300)gaG>gaC	p.E100D	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E100D|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E100D	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	100	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCTGTGGAGAGACGGAGGACA	0.493000													12	27					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62836958	62836958	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr20:62836958G>A	ENST00000536311.1	+	6	566	c.202G>A	c.(202-204)Gag>Aag	p.E68K	MYT1_ENST00000328439.1_Missense_Mutation_p.E68K|MYT1_ENST00000360149.4_Missense_Mutation_p.E68K			Q01538	MYT1_HUMAN	myelin transcription factor 1	68					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCTGAGGCTGAGCACCTGGT	0.622000													15	74					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10514903	10514903	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:10514903C>T	ENST00000444303.2	+	6	942	c.470C>T	c.(469-471)aCa>aTa	p.T157I	AMPD3_ENST00000396554.3_Missense_Mutation_p.T325I	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	316					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGGTGGACACACACATCCAT	0.577000													44	160					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28032225	28032225	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:28032225G>A	ENST00000375790.5	-	2	552	c.120C>T	c.(118-120)cgC>cgT	p.R40R	MKX_ENST00000419761.1_Silent_p.R40R			Q8IYA7	MKX_HUMAN	mohawk homeobox	40			R -> H (in dbSNP:rs34439626).		muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCACCTCGGGGCGGGCGTGAG	0.726000													10	33					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13476201	13476201	+	Silent	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:13476201A>G	ENST00000360228.5	-	5	713	c.714T>C	c.(712-714)ctT>ctC	p.L238L	CACNA1A_ENST00000573710.2_Silent_p.L238L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	238					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTGCAAAAATAAGGATTGCAA	0.458000													14	95					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394792	86394792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:86394792G>T	ENST00000361669.2	+	2	1430	c.331G>T	c.(331-333)Gag>Tag	p.E111*	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Nonsense_Mutation_p.E111*|GRM3_ENST00000394720.2_Nonsense_Mutation_p.E109*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	111					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCAATCACTGGAGTTTGTCAG	0.418000													5	182					1.23904e-05	1.26785e-05	1	1	0
NUMB	8650	broad.mit.edu	37	14	73753886	73753886	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:73753886C>G	ENST00000556772.1	-	3	2442	c.155G>C	c.(154-156)cGt>cCt	p.R52P	NUMB_ENST00000359560.3_Missense_Mutation_p.R185P|NUMB_ENST00000559312.1_Missense_Mutation_p.R196P|NUMB_ENST00000544991.3_Missense_Mutation_p.R196P|NUMB_ENST00000555738.2_Missense_Mutation_p.R185P|NUMB_ENST00000555394.1_Missense_Mutation_p.R196P|NUMB_ENST00000557597.1_Missense_Mutation_p.R185P|NUMB_ENST00000554521.2_Missense_Mutation_p.R185P|NUMB_ENST00000554546.1_Missense_Mutation_p.R185P|NUMB_ENST00000560335.1_Missense_Mutation_p.R196P|NUMB_ENST00000555238.1_Missense_Mutation_p.R196P|NUMB_ENST00000355058.3_Missense_Mutation_p.R196P|NUMB_ENST00000356296.4_Missense_Mutation_p.R196P|NUMB_ENST00000535282.1_Missense_Mutation_p.R185P|NUMB_ENST00000454166.4_Missense_Mutation_p.R196P			P49757	NUMB_HUMAN	numb homolog (Drosophila)	196	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGTTGTGACACGGAATGATCC	0.448000													14	83					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54496484	54496484	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:54496484G>A	ENST00000375135.3	-	4	1799	c.1066C>T	c.(1066-1068)Cca>Tca	p.P356S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	356					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGGGCACTGGGATTTCTCTG	0.597000													9	33					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19487443	19487443	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:19487443C>T	ENST00000375267.2	-	38	5377	c.5374G>A	c.(5374-5376)Gta>Ata	p.V1792I	UBR4_ENST00000375254.3_Missense_Mutation_p.V1792I|UBR4_ENST00000375217.2_Missense_Mutation_p.V1792I|UBR4_ENST00000375226.2_Missense_Mutation_p.V1792I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1792					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCCTCTACTGTGCGGCAG	0.542000													7	46					0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66605889	66605889	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:66605889G>A	ENST00000360962.4	+	15	1727	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	C11orf80_ENST00000540737.1_Missense_Mutation_p.D408N|C11orf80_ENST00000525449.2_Missense_Mutation_p.D382N|C11orf80_ENST00000532565.2_Missense_Mutation_p.D356N|C11orf80_ENST00000527634.1_Missense_Mutation_p.D357N|C11orf80_ENST00000346672.4_Missense_Mutation_p.D383N	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	419										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GGACGCACCTGATAACAGCAG	0.443000													11	58					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88218312	88218312	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:88218312C>T	ENST00000518476.1	+	5	574	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	175										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGATAAGCATCTGAAAACACT	0.398000													5	30					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013352	149013352	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chrX:149013352T>C	ENST00000535454.1	+	4	855	c.306T>C	c.(304-306)gcT>gcC	p.A102A	MAGEA8_ENST00000542674.1_Silent_p.A102A|MAGEA8_ENST00000286482.1_Silent_p.A102A	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	102										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CGGACCCAGCTCACCTGGAGT	0.557000													30	145					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464640	5464640	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:5464640C>G	ENST00000296564.7	+	13	5415	c.5193C>G	c.(5191-5193)ctC>ctG	p.L1731L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1731	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGGCCGACTCCCACCCTGTG	0.597000													7	47					0	0	1	0	0
C10orf25	220979	broad.mit.edu	37	10	45496299	45496299	+	Silent	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:45496299C>A	ENST00000298298.1	-	1	37	c.9G>T	c.(7-9)ccG>ccT	p.P3P	ZNF22_ENST00000298299.3_5'UTR	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	3						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						CGGGTGGGCCCGGGACCATAG	0.672000													4	8					1	1	1	1	0
PRF1	5551	broad.mit.edu	37	10	72358594	72358594	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:72358594T>C	ENST00000441259.1	-	3	1043	c.883A>G	c.(883-885)Acc>Gcc	p.T295A	PRF1_ENST00000373209.2_Missense_Mutation_p.T295A	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	295	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCCCGGTAGGTTTGGTGGAAG	0.607000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				27	73					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													6	37					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154112367	154112367	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:154112367C>G	ENST00000368559.3	-	5	699	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.E210Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	210						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTTTCTCCTCTTTTTCCATC	0.338000													105	243					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36221656	36221656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:36221656G>A	ENST00000420124.1	+	26	5325	c.5325G>A	c.(5323-5325)tgG>tgA	p.W1775*	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Nonsense_Mutation_p.W1775*					lysine (K)-specific methyltransferase 2B																		GGCGCTGCTGGTATCGGTGCC	0.597000													11	70					0	0	1	0	0
BAG5	9529	broad.mit.edu	37	14	104027261	104027261	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:104027261C>G	ENST00000445922.2	-	2	487	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	BAG5_ENST00000337322.4_Missense_Mutation_p.E122Q|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.E81Q	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	81	BAG 1.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TGCTCCAACTCTTTGAGAAGA	0.428000													24	109					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47440647	47440647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:47440647G>T	ENST00000404338.3	+	2	3808	c.3808G>T	c.(3808-3810)Gag>Tag	p.E1270*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1270	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AAGATGTATTGAGTACATTGA	0.433000													16	65					2.94398e-08	3.05508e-08	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10610363	10610363	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:10610363C>G	ENST00000171111.5	-	2	894	c.347G>C	c.(346-348)cGg>cCg	p.R116P	KEAP1_ENST00000393623.2_Missense_Mutation_p.R116P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	116	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCCTGCTCCCGCAGCCCGTT	0.612000													11	58					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846852	123846852	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:123846852G>T	ENST00000369005.1	+	4	5177	c.4837G>T	c.(4837-4839)Gat>Tat	p.D1613Y	TACC2_ENST00000515603.1_Missense_Mutation_p.D1613Y|TACC2_ENST00000515273.1_Missense_Mutation_p.D1613Y|TACC2_ENST00000334433.3_Missense_Mutation_p.D1613Y|TACC2_ENST00000453444.2_Missense_Mutation_p.D1613Y|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1613						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACATGGAGAAGATGGTCCCGG	0.582000													22	69					4.35082e-09	4.5364e-09	1	1	0
TXNIP	10628	broad.mit.edu	37	1	145439609	145439609	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145439609G>C	ENST00000369317.4	+	2	601	c.267G>C	c.(265-267)gtG>gtC	p.V89V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	89					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAGATGGTGATCATGAGAC	0.403000													17	131					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25836912	25836912	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr4:25836912G>C	ENST00000399878.3	-	3	889	c.767C>G	c.(766-768)tCc>tGc	p.S256C	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S221C|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S103C	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	256						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTCTCCACTGGAGGCATAAGG	0.488000													26	100					0	0	1	0	0
LINC00691	152024	broad.mit.edu	37	3	24138674	24138674	+	RNA	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:24138674T>G	ENST00000436123.1	-	0	2049																											TTGCCTCTGCTTCAACAATGT	0.418000													3	10					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144886946	144886946	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr8:144886946A>T	ENST00000356994.2	-	21	2807	c.2801T>A	c.(2800-2802)cTg>cAg	p.L934Q	SCRIB_ENST00000320476.3_Missense_Mutation_p.L934Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.L853Q	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	934	Interaction with ARHGEF7.|PDZ 2.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCGGTCAGCAGGGAGACGGC	0.662000													4	22					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31354171	31354171	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:31354171G>C	ENST00000382493.4	+	3	310	c.210G>C	c.(208-210)caG>caC	p.Q70H	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Intron|COCH_ENST00000475087.1_Intron|COCH_ENST00000216361.4_Intron|COCH_ENST00000460581.2_Intron|RP11-829H16.3_ENST00000555421.1_RNA			O43405	COCH_HUMAN	cochlin	244	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AAAATCAACAGACTTATCTAA	0.358000													20	60					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750586	167750586	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:167750586C>T	ENST00000470487.1	-	9	1587	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E272K	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	300					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTGTGTCTTCTGCTCTTCCA	0.483000													57	78					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3330299	3330299	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:3330299C>T	ENST00000382004.3	-	5	745	c.434G>A	c.(433-435)gGt>gAt	p.G145D	RFX3_ENST00000358730.2_Missense_Mutation_p.G145D|RFX3_ENST00000302303.1_Missense_Mutation_p.G145D	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	145					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CACTGAGTGACCAGAATTCTC	0.458000													7	63					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444142	49444142	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:49444142T>A	ENST00000301067.7	-	11	3228	c.3229A>T	c.(3229-3231)Aaa>Taa	p.K1077*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCTGAAACTTTCTCAGTCTCC	0.617000													5	24					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111558772	111558772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:111558772A>T	ENST00000304987.3	+	4	537	c.364A>T	c.(364-366)Aaa>Taa	p.K122*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	122	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGCCAGGCGAAAATTCTGGCA	0.403000													13	56					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24429286	24429286	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:24429286G>C	ENST00000230036.1	-	25	2607	c.2497C>G	c.(2497-2499)Cac>Gac	p.H833D		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	833						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTATAGACGTGAAGTGCCCCG	0.488000													8	48					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145584822	145584822	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:145584822C>A	ENST00000393045.2	+	13	1696	c.1606C>A	c.(1606-1608)Cag>Aag	p.Q536K	PIAS3_ENST00000369298.1_Missense_Mutation_p.Q501K	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	536					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCATTTCTTCAGACAGAGAG	0.423000													30	76					7.11191e-15	7.63229e-15	1	1	0
HKDC1	80201	broad.mit.edu	37	10	71002944	71002944	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:71002944G>A	ENST00000354624.5	+	7	831	c.698G>A	c.(697-699)gGc>gAc	p.G233D	HKDC1_ENST00000395086.2_Missense_Mutation_p.G233D	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	233					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						TCAGGAACTGGCACCAATGCG	0.562000													21	114					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102432327	102432327	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:102432327C>T	ENST00000399004.2	-	7	1306	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	404					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGTTGTCTCTCAGGACAGCAC	0.413000													47	179					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46125015	46125015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:46125015C>T	ENST00000334344.6	+	3	374	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	68	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAGAAGAATCAGTGGGGAGA	0.378000			"""N, S, F"""		hepatocellular carcinoma								16	64					0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432366	72432366	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:72432366G>C	ENST00000544411.1	+	3	889	c.402G>C	c.(400-402)gaG>gaC	p.E134D	SENP8_ENST00000542035.2_Missense_Mutation_p.E134D|SENP8_ENST00000544171.1_Missense_Mutation_p.E134D|SENP8_ENST00000340912.4_Missense_Mutation_p.E134D	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	134	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						AGGTAGCAGAGAAACTGGAGG	0.453000													11	74					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17675190	17675190	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr6:17675190G>A	ENST00000262077.2	-	5	797	c.798C>T	c.(796-798)taC>taT	p.Y266Y	NUP153_ENST00000537253.1_Silent_p.Y266Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	266					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCCCCACCGTATGTTGTTT	0.373000													17	60					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454248	35454248	+	Missense_Mutation	SNP	C	C	T	rs148541461		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr11:35454248C>T	ENST00000378880.2	-	11	2264	c.1819G>A	c.(1819-1821)Gtg>Atg	p.V607M	PAMR1_ENST00000532848.1_Missense_Mutation_p.V567M|PAMR1_ENST00000378878.3_Missense_Mutation_p.V496M|PAMR1_ENST00000278360.3_Missense_Mutation_p.V624M	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	607	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGGCTCCTCACGTCTGCCAGG	0.617000													10	56					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74774374	74774374	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:74774374C>T	ENST00000588460.1	+	13	3332	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	MFSD11_ENST00000336509.4_Silent_p.F430F|MFSD11_ENST00000355954.3_Silent_p.F378F|MFSD11_ENST00000593181.1_Silent_p.F378F|MFSD11_ENST00000586622.1_Silent_p.F430F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000590514.1_Silent_p.F430F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	430						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTTCTTTCTTCACTGTGGAAT	0.498000													11	81					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139698986	139698986	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:139698986C>G	ENST00000338005.6	+	7	734	c.699C>G	c.(697-699)atC>atG	p.I233M	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	233										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CGTCCTTCATCGAGGAGCGCC	0.602000													30	43					0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50884577	50884577	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:50884577G>A	ENST00000404795.3	-	3	1781	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	DMRTA2_ENST00000418121.1_Silent_p.L463L	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	463	Ala-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						GCAGGGGGCTGAGGCCGAGCG	0.756000													6	6					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635868	44635868	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:44635868G>C	ENST00000322734.2	+	3	516	c.183G>C	c.(181-183)caG>caC	p.Q61H	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCTTTAGTCAGAGTGCAAACC	0.438000													14	42					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16953703	16953703	+	RNA	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:16953703G>A	ENST00000412962.1	-	0	558																											GCAGCGTGGCGCGGCTCAGCG	0.637000													6	100					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939937	50939937	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:50939937G>C	ENST00000357701.5	+	5	460	c.409G>C	c.(409-411)Gag>Cag	p.E137Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	137	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TTACCGCCTCGAGGTCAAAGC	0.612000													24	115					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127642825	127642825	+	Missense_Mutation	SNP	C	C	T	rs146171341	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr9:127642825C>T	ENST00000373555.4	-	23	2621	c.2288G>A	c.(2287-2289)cGg>cAg	p.R763Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	763						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CCATGGTATCCGAGGGTTTGA	0.502000													23	169					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68228128	68228128	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:68228128C>T	ENST00000347230.4	-	35	6681	c.6543G>A	c.(6541-6543)gtG>gtA	p.V2181V	ZFYVE26_ENST00000555452.1_Silent_p.V2181V|ZFYVE26_ENST00000557306.1_Silent_p.V27V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2181					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCTGTGCCTCACGTAGAAGC	0.517000													6	24					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101060534	101060534	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr3:101060534T>C	ENST00000394095.2	-	15	2249	c.2196A>G	c.(2194-2196)ccA>ccG	p.P732P	SENP7_ENST00000394094.2_Silent_p.P667P|SENP7_ENST00000314261.7_Silent_p.P666P|SENP7_ENST00000358203.3_Silent_p.P568P|SENP7_ENST00000394091.1_Silent_p.P568P|SENP7_ENST00000348610.3_Silent_p.P699P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	732					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTCTTCATCTGGATTAGATG	0.433000													28	38					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387808	46387808	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:46387808C>T	ENST00000302165.3	-	1	1568	c.1225G>A	c.(1225-1227)Ggc>Agc	p.G409S		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TACGGGCCGCCGGGTGCCACC	0.721000													10	53					0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38498963	38498963	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr17:38498963G>C	ENST00000394081.3	+	1	349	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	RARA_ENST00000394089.2_Intron|RARA_ENST00000394086.3_Intron|RARA_ENST00000425707.3_Intron|RARA_ENST00000254066.5_Intron|CTD-2267D19.2_ENST00000581080.1_RNA	NM_001024809.3	NP_001019980.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	0	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAAGATGTACGAGAGTGTAGA	0.632000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								21	101					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102312479	102312479	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:102312479C>G	ENST00000338858.5	-	1	50	c.51G>C	c.(49-51)atG>atC	p.M17I	OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000359814.3_Missense_Mutation_p.M17I			Q96PB7	NOE3_HUMAN	olfactomedin 3	17						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGTTTGAGATCATTGCCATGG	0.507000													24	91					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738085	102738085	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr10:102738085G>A	ENST00000210633.3	+	5	547	c.469G>A	c.(469-471)Gag>Aag	p.E157K	SEMA4G_ENST00000370250.4_Missense_Mutation_p.E157K|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E157K|MRPL43_ENST00000318325.2_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	157	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AACCAGCTTCGAGGAGGGGAA	0.532000													5	10					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228195544	228195544	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr2:228195544G>A	ENST00000353339.3	+	4	682	c.241G>A	c.(241-243)Gag>Aag	p.E81K	MFF_ENST00000409565.1_Missense_Mutation_p.E55K|MFF_ENST00000524634.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.E81K|MFF_ENST00000337110.7_Missense_Mutation_p.E55K|MFF_ENST00000304593.9_Missense_Mutation_p.E55K|MFF_ENST00000354503.6_Missense_Mutation_p.E55K|MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Missense_Mutation_p.E55K|MFF_ENST00000409616.1_Missense_Mutation_p.E55K	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	81						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GCAAGTTCCGGAGAGGATTGT	0.388000													9	29					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19960805	19960805	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr22:19960805G>A	ENST00000263207.3	-	14	2566	c.2275C>T	c.(2275-2277)Cgc>Tgc	p.R759C	ARVCF_ENST00000344269.3_Missense_Mutation_p.R696C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R753C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R690C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R696C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	759					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGTGCATTGCGCACATTCCGC	0.637000													5	20					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74077445	74077445	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:74077445G>C	ENST00000389156.4	-	13	1943	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	FAM169A_ENST00000510496.1_Missense_Mutation_p.S558C|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	618										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TTGCTCGGAAGATGCTTCAGA	0.468000													21	134					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028509	100028509	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr7:100028509C>A	ENST00000310512.2	+	1	1256	c.868C>A	c.(868-870)Ctc>Atc	p.L290I	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	290							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGCCCCTCTCACCCCCTT	0.667000													36	102					4.34311e-12	4.61586e-12	1	1	0
NFASC	23114	broad.mit.edu	37	1	204953164	204953164	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr1:204953164C>T	ENST00000367172.4	+	22	2808	c.2480C>T	c.(2479-2481)gCt>gTt	p.A827V	NFASC_ENST00000539706.1_Missense_Mutation_p.A823V|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000404907.1_Missense_Mutation_p.A823V|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.A812V|NFASC_ENST00000338515.6_Missense_Mutation_p.A827V|NFASC_ENST00000338586.6_Missense_Mutation_p.A827V|NFASC_ENST00000404076.1_Missense_Mutation_p.A806V|NFASC_ENST00000360049.4_Missense_Mutation_p.A823V|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.A827V|NFASC_ENST00000513543.1_Missense_Mutation_p.A823V			O94856	NFASC_HUMAN	neurofascin	827	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATCCCAGGGCTGCGCCCACT	0.562000													13	32					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088246	17088246	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:17088246C>T	ENST00000443236.1	-	15	1862	c.1831G>A	c.(1831-1833)Gtc>Atc	p.V611I	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	564						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTCTCCCTGACGTAGAAGACC	0.592000													16	94					0	0	1	0	0
MRPL23	6150	broad.mit.edu	37	11	1977518	1977518	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:1977518G>A	ENST00000397298.3	+	5	415	c.330G>A	c.(328-330)ctG>ctA	p.L110L	MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000381519.1_Silent_p.L110L|MRPL23_ENST00000397294.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	110					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCCCAGATCTGTTTCCCGAGA	0.622000													24	167					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158935195	158935195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr7:158935195G>A	ENST00000262178.2	-	2	279	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	VIPR2_ENST00000421760.2_Nonsense_Mutation_p.Q32*|VIPR2_ENST00000402066.1_Nonsense_Mutation_p.Q173*	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	32					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TCTTCCTCCTGTATTTCCAGA	0.398000													23	99					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26193971	26193971	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr22:26193971A>G	ENST00000335473.7	+	12	2678	c.2428A>G	c.(2428-2430)Atg>Gtg	p.M810V	MYO18B_ENST00000407587.2_Missense_Mutation_p.M810V|MYO18B_ENST00000536101.1_Missense_Mutation_p.M810V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	810	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAGGGTGCCATGGAGATGCT	0.617000													6	128					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718791	101718791	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr15:101718791G>A	ENST00000254190.3	-	3	1686	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	404					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCGTCCAAGGCTTCCCTCTG	0.532000													19	91					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117814457	117814457	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chrX:117814457G>A	ENST00000276204.6	+	49	5547	c.5473G>A	c.(5473-5475)Gag>Aag	p.E1825K	DOCK11_ENST00000276202.7_Missense_Mutation_p.E1825K			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1825	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AAATGCCAAAGAGCTTGATCC	0.289000													13	66					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79803505	79803505	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:79803505C>G	ENST00000331483.4	-	9	1513	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	P4HB_ENST00000439918.2_Missense_Mutation_p.E387Q|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	431	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GCCTCCACCTCGTTGGCAGTC	0.582000													4	25					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162692	33162692	+	RNA	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:33162692A>T	ENST00000510327.1	-	0	346																											GGAAGAAGAGATTTTAAACAA	0.473000													4	18					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81888168	81888168	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr16:81888168G>A	ENST00000359376.3	+	3	527	c.313G>A	c.(313-315)Gtc>Atc	p.V105I	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	105	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CACTCAGTTCGTCCTCAGCAC	0.498000													35	121					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101333128	101333128	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:101333128G>A	ENST00000392979.3	+	3	452	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	ANO4_ENST00000538618.1_Missense_Mutation_p.E232K|ANO4_ENST00000392977.3_Missense_Mutation_p.E66K|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	66						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGATGAATTAGAAGCTGTCAG	0.413000										HNSCC(74;0.22)			26	74					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228473945	228473945	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:228473945C>T	ENST00000570156.2	+	39	10532	c.10458C>T	c.(10456-10458)ccC>ccT	p.P3486P	OBSCN_ENST00000359599.6_Silent_p.P1904P|OBSCN_ENST00000422127.1_Silent_p.P3057P|OBSCN_ENST00000366709.4_Silent_p.P176P|OBSCN_ENST00000366707.4_Silent_p.P176P|OBSCN_ENST00000284548.11_Silent_p.P3057P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2519	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGCCCAGCCCGGGGGCTACC	0.667000													6	26					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100903457	100903457	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr2:100903457C>G	ENST00000393437.3	-	11	2628	c.1989G>C	c.(1987-1989)tgG>tgC	p.W663C	LONRF2_ENST00000409647.1_Missense_Mutation_p.W420C	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	663	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GAGACGCGAACCAGGAAACAG	0.498000													10	67					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83905979	83905979	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr4:83905979C>T	ENST00000340417.3	-	2	396	c.19G>A	c.(19-21)Gag>Aag	p.E7K	LIN54_ENST00000442461.2_Missense_Mutation_p.E7K|LIN54_ENST00000395282.2_Missense_Mutation_p.E7K|LIN54_ENST00000506560.1_Missense_Mutation_p.E7K|LIN54_ENST00000395283.2_Missense_Mutation_p.E7K|LIN54_ENST00000505397.1_Missense_Mutation_p.E7K|LIN54_ENST00000446851.2_Missense_Mutation_p.E7K|LIN54_ENST00000510557.1_Missense_Mutation_p.E7K	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	7					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CTATTCACCTCAGCTGGCACC	0.393000													42	104					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532886	113532886	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:113532886G>A	ENST00000257600.3	+	7	1929	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	476					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCATCTACGGGGAGAAGAC	0.652000													14	82					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79804359	79804359	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:79804359C>T	ENST00000331483.4	-	7	1224	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	P4HB_ENST00000439918.2_Silent_p.L290L|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	334					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCTCTGCCGTCAGCTCCTCCG	0.632000													28	129					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			27	32					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40030684	40030684	+	Missense_Mutation	SNP	C	C	A	rs61417992		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr22:40030684C>A	ENST00000336649.4	+	7	695	c.695C>A	c.(694-696)gCg>gAg	p.A232E	CACNA1I_ENST00000400164.3_Missense_Mutation_p.A232E|CACNA1I_ENST00000401624.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000402142.3_Missense_Mutation_p.A232E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A232E			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	232					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGCTCTGGGCGGGCCTGCTG	0.562000													21	134					3.62473e-10	3.82244e-10	1	1	0
RAB20	55647	broad.mit.edu	37	13	111176499	111176499	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr13:111176499G>A	ENST00000267328.3	-	2	431	c.218C>T	c.(217-219)gCg>gTg	p.A73V		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	73					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GATGGCGGCCGCCCCCCGGCA	0.607000													29	81					0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96053848	96053848	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr6:96053848G>A	ENST00000358812.4	+	5	1090	c.956G>A	c.(955-957)gGa>gAa	p.G319E	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	319	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GGTTTTGATGGAATTTACACA	0.338000													10	40					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100991351	100991351	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr9:100991351C>G	ENST00000375066.5	-	5	952	c.861G>C	c.(859-861)caG>caC	p.Q287H	TBC1D2_ENST00000342112.5_Missense_Mutation_p.Q69H|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.Q287H	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	287						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGTGTTGTTCTGGCGCTTGG	0.532000													14	89					0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	377161	377161	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr20:377161G>A	ENST00000217233.3	+	4	1457	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	TRIB3_ENST00000422053.2_Missense_Mutation_p.E329K	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	302	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGAGCCAGCTGAACGGCTCAC	0.687000													17	101					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30675515	30675515	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr6:30675515C>T	ENST00000376406.3	-	8	3488	c.2841G>A	c.(2839-2841)caG>caA	p.Q947Q	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	947				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GCTCCCCTCTCTGTGTATCTC	0.592000								Other conserved DNA damage response genes					24	98					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316731	203316731	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:203316731C>T	ENST00000354955.4	-	2	1131	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	223					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GATCAGTGACCGGAGGCCCCT	0.567000													72	189					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150923371	150923371	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:150923371A>G	ENST00000271640.5	+	13	2208	c.2018A>G	c.(2017-2019)tAt>tGt	p.Y673C	SETDB1_ENST00000368969.4_Missense_Mutation_p.Y673C|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTTCAGCCCTATAAGCCTTTT	0.463000													35	83					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56647181	56647181	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:56647181C>T	ENST00000267116.7	-	10	1112	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	331							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CAATCAATCTCGCTGCCTGTG	0.532000													17	72					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819326	12819326	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:12819326G>A	ENST00000379672.5	+	5	685	c.385G>A	c.(385-387)Gag>Aag	p.E129K	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E129K|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E129K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	129	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TTTGCTGGCGGAGGTAAGCAG	0.512000													8	26					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70070717	70070717	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:70070717G>A	ENST00000330891.5	-	7	1072	c.846C>T	c.(844-846)ttC>ttT	p.F282F	BEST3_ENST00000331471.4_Silent_p.F282F|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Silent_p.F176F|BEST3_ENST00000488961.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	282						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGCATAGAAGAAGAATTGTA	0.473000													28	147					0	0	1	0	0
COX7B2	170712	broad.mit.edu	37	4	46737107	46737107	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr4:46737107G>C	ENST00000396533.1	-	4	353	c.103C>G	c.(103-105)Cat>Gat	p.H35D	COX7B2_ENST00000302930.5_Missense_Mutation_p.H35D|COX7B2_ENST00000355591.3_Missense_Mutation_p.H35D|COX7B2_ENST00000543208.1_Missense_Mutation_p.H34D			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	35						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						TATTTATCATGAAAATCTGGT	0.423000													8	76					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17487766	17487766	+	Missense_Mutation	SNP	C	C	T	rs144117840		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:17487766C>T	ENST00000252590.4	-	1	393	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	111						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCATTGATGCGGTCCAGGTC	0.637000													12	66					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139838425	139838425	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:139838425G>A	ENST00000297183.6	+	8	1582	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.M486I|ANKHD1_ENST00000394723.3_Missense_Mutation_p.M486I|ANKHD1_ENST00000394722.3_Missense_Mutation_p.M475I|ANKHD1_ENST00000360839.2_Missense_Mutation_p.M486I	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAAGAAATGGTGGCACTAC	0.398000													11	79					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37465272	37465272	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr22:37465272C>G	ENST00000381792.2	-	16	2094	c.1954G>C	c.(1954-1956)Gaa>Caa	p.E652Q	TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E661Q|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E652Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E652Q			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	661	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGTCCTCTTCGTGGTACGGG	0.692000													4	21					0	0	1	0	0
VAPA	9218	broad.mit.edu	37	18	9931810	9931810	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr18:9931810C>T	ENST00000400000.2	+	2	338	c.83C>T	c.(82-84)cCc>cTc	p.P28L	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Missense_Mutation_p.P28L	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	28	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						TTTACAGGCCCCTTCACAGAT	0.333000													21	88					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110581817	110581817	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:110581817C>T	ENST00000369795.3	+	4	371	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	STRIP1_ENST00000369796.1_Silent_p.L22L|STRIP1_ENST00000369794.2_Silent_p.L117L	NM_033088.3	NP_149079.2			striatin interacting protein 1																		GTGGACTGAGCTGGATACCAA	0.517000													13	46					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137590506	137590506	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr7:137590506G>A	ENST00000330387.6	-	6	1208	c.857C>T	c.(856-858)cCc>cTc	p.P286L	CREB3L2_ENST00000456390.1_Missense_Mutation_p.P286L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	286					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TTTTGACAGGGGCAATTTGGT	0.522000			T	FUS	fibromyxoid sarcoma								34	161					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100637717	100637717	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr13:100637717G>A	ENST00000376335.3	+	3	1673	c.1380G>A	c.(1378-1380)gcG>gcA	p.A460A	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	460	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcagcggcggcggcgg	0.816000													3	24					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524597	51524597	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr6:51524597T>C	ENST00000371117.3	-	61	10602	c.10327A>G	c.(10327-10329)Agt>Ggt	p.S3443G		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3443					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCATTTACACTGCTAAAGACA	0.413000													27	101					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7770734	7770734	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr4:7770734G>A	ENST00000420658.1	-	17	2527	c.2255C>T	c.(2254-2256)tCt>tTt	p.S752F	AFAP1_ENST00000382543.3_Splice_Site_p.S752F|AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_Splice_Site_p.S668F|AFAP1_ENST00000360265.4_Splice_Site_p.S668F	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	668						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GAACACTGGAGACTTAACGGA	0.547000													32	175					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906301	12906301	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chrX:12906301G>C	ENST00000380659.3	+	3	2813	c.2674G>C	c.(2674-2676)Gat>Cat	p.D892H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	892	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CTGTTGCTATGATGCTTTTAT	0.433000													29	187					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20832925	20832925	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr18:20832925C>A	ENST00000256925.7	+	8	1448	c.1448C>A	c.(1447-1449)aCa>aAa	p.T483K	CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Splice_Site_p.T156K|CABLES1_ENST00000420687.2_Splice_Site_p.T218K|TMEM241_ENST00000450466.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	483	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGTTACAGACAACAGTGATT	0.438000													11	44					5.50884e-06	5.68022e-06	1	1	0
PMEL	6490	broad.mit.edu	37	12	56349288	56349288	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:56349288G>C	ENST00000548747.1	-	9	2384	c.1722C>G	c.(1720-1722)acC>acG	p.T574T	PMEL_ENST00000360714.4_Silent_p.T574T|PMEL_ENST00000550464.1_Silent_p.T488T|PMEL_ENST00000550447.1_Silent_p.T203T|PMEL_ENST00000548493.1_Silent_p.T574T|PMEL_ENST00000552882.1_Silent_p.T574T|PMEL_ENST00000449260.2_Silent_p.T574T|PMEL_ENST00000536427.1_Silent_p.T532T|PMEL_ENST00000539511.1_Silent_p.T488T			P40967	PMEL_HUMAN	premelanosome protein	574					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGGCTGTTGGTATCAGCCA	0.582000													16	73					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84651768	84651768	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr7:84651768C>T	ENST00000284136.6	-	11	1396	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	451	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCACCACTATCTGTGTCAGTC	0.403000													34	160					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635933	44635933	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:44635933G>C	ENST00000322734.2	+	3	581	c.248G>C	c.(247-249)tGt>tCt	p.C83S	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGTAAGGAGTGTGGAAAAGCT	0.443000													15	44					0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44378165	44378165	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:44378165C>T	ENST00000587539.1	-	3	200	c.201G>A	c.(199-201)gcG>gcA	p.A67A	ZNF404_ENST00000324394.6_Silent_p.A65A	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CCTGATGGTACGCATTTACTT	0.318000													11	51					0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8483449	8483449	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:8483449C>A	ENST00000447869.1	-	4	1379	c.461G>T	c.(460-462)aGc>aTc	p.S154I	STK33_ENST00000396673.1_Missense_Mutation_p.S154I|STK33_ENST00000315204.1_Missense_Mutation_p.S154I|STK33_ENST00000396672.1_Missense_Mutation_p.S154I|STK33_ENST00000534493.1_Missense_Mutation_p.S113I|STK33_ENST00000358872.3_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	154	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CACAGCAGAGCTTCCAGCCTT	0.338000													11	39					4.84862e-15	5.23199e-15	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72186022	72186022	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr15:72186022C>G	ENST00000356056.5	-	26	5612	c.5140G>C	c.(5140-5142)Gag>Cag	p.E1714Q	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1714Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1695Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1714Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1714	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAACTTACCTCTCTTTGGCCT	0.368000													7	34					0	0	1	0	0
ISOC1	51015	broad.mit.edu	37	5	128430720	128430720	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:128430720C>T	ENST00000173527.5	+	1	277	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	87						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CCAAGGGCTTCGCGGTGAGCG	0.667000													4	23					0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68603838	68603838	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:68603838G>A	ENST00000396496.2	-	5	578	c.471C>T	c.(469-471)gcC>gcT	p.A157A	CCDC125_ENST00000396499.1_Silent_p.A157A|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000511257.1_Silent_p.A32A|CCDC125_ENST00000383374.2_Silent_p.A156A			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	157						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TATGACTTGTGGCTTTGCCCA	0.333000													7	47					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37379600	37379600	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:37379600C>T	ENST00000265107.4	+	2	191	c.35C>T	c.(34-36)tCa>tTa	p.S12L	WDR70_ENST00000504564.1_Missense_Mutation_p.S12L	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	12										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGACAGGCTCAGACGCGTCG	0.662000													23	93					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227921241	227921241	+	Silent	SNP	G	G	A	rs117793265	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:227921241G>A	ENST00000366758.3	-	4	833	c.834C>T	c.(832-834)tcC>tcT	p.S278S	JMJD4_ENST00000438896.2_Silent_p.S278S|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	278	JmjC.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				AGAGTGCTGGGGAGGTCACGT	0.642000													21	61					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866027	139866027	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chrX:139866027G>C	ENST00000370532.2	-	1	696	c.505C>G	c.(505-507)Cgt>Ggt	p.R169G		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	169	6 X 6 AA approximate repeats.							p.R169C(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GAAAATCCACGTCTTCCCAAC	0.423000													63	266					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74774367	74774367	+	Missense_Mutation	SNP	C	C	T	rs3198672		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:74774367C>T	ENST00000588460.1	+	13	3325	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	MFSD11_ENST00000593181.1_Missense_Mutation_p.S376F|MFSD11_ENST00000590514.1_Missense_Mutation_p.S428F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Missense_Mutation_p.S428F|MFSD11_ENST00000336509.4_Missense_Mutation_p.S428F|MFSD11_ENST00000355954.3_Missense_Mutation_p.S376F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	428			S -> F (in dbSNP:rs3198672).			integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GGAACAATTTCTTTCTTCACT	0.493000													11	79					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100566463	100566463	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:100566463G>A	ENST00000471714.1	-	19	1761	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P502L|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P551L			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	502	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTCCATGTAGGTTCAGGGCT	0.373000													86	113					0	0	1	0	0
RFC4	5984	broad.mit.edu	37	3	186512453	186512453	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:186512453C>T	ENST00000392481.2	-	5	685	c.404G>A	c.(403-405)cGc>cAc	p.R135H	RFC4_ENST00000433496.1_Missense_Mutation_p.R135H|RFC4_ENST00000296273.2_Missense_Mutation_p.R135H	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	135					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTACTCTGAGCGACTTCCTGA	0.383000													13	56					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124249040	124249040	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr10:124249040G>A	ENST00000368984.3	+	3	803	c.675G>A	c.(673-675)aaG>aaA	p.K225K		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	225	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGACCAACAAGCACCGGGTCA	0.498000													4	80					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													4	29					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41388442	41388442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr15:41388442G>A	ENST00000361937.3	-	2	491	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	INO80_ENST00000401393.3_Nonsense_Mutation_p.Q23*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	23	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCCAAGTACTGAAGATAGAGG	0.483000													5	51					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611479	17611479	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr8:17611479T>G	ENST00000381869.3	-	2	2311	c.1838A>C	c.(1837-1839)gAa>gCa	p.E613A	MTUS1_ENST00000381862.3_Missense_Mutation_p.E613A|MTUS1_ENST00000262102.6_Missense_Mutation_p.E613A|MTUS1_ENST00000519263.1_Missense_Mutation_p.E613A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	613						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTCAACATCTTCCTGATTCGA	0.428000													33	125					0	0	1	0	0
MRTO4	51154	broad.mit.edu	37	1	19584362	19584362	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:19584362G>C	ENST00000330263.4	+	6	674	c.377G>C	c.(376-378)cGa>cCa	p.R126P		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	126					ribosome biogenesis	nuclear membrane|nucleolus		p.R126Q(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GACTACGCCCGAGCTGGTAAC	0.592000													23	123					0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24808466	24808466	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr14:24808466C>G	ENST00000216274.5	-	3	444	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	76	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ATAACCCCTTCTAGGCGCAGC	0.572000													22	91					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39727637	39727637	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:39727637G>A	ENST00000246662.4	-	1	673	c.608C>T	c.(607-609)cCt>cTt	p.P203L	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	203	Linker 1.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GTTATAATAAGGGGAGTAGTT	0.443000													30	143					0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013352	149013352	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chrX:149013352T>C	ENST00000535454.1	+	4	855	c.306T>C	c.(304-306)gcT>gcC	p.A102A	MAGEA8_ENST00000286482.1_Silent_p.A102A|MAGEA8_ENST00000542674.1_Silent_p.A102A	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	102										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CGGACCCAGCTCACCTGGAGT	0.557000													30	145					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252654	124252654	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:124252654C>T	ENST00000375013.2	-	1	604	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ACAACCACCTCGTTGACATAG	0.433000													18	83					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723522	48723522	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:48723522G>A	ENST00000335017.1	+	1	760	c.448G>A	c.(448-450)Gcg>Acg	p.A150T		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	150	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	p.A150T(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GACCCCAGCCGCGCCCCGGAG	0.706000													7	24					0	0	1	0	0
NDUFA12	55967	broad.mit.edu	37	12	95397387	95397387	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:95397387G>T	ENST00000327772.2	-	1	159	c.70C>A	c.(70-72)Cta>Ata	p.L24I	NDUFA12_ENST00000547157.1_Missense_Mutation_p.L24I|NDUFA12_ENST00000547986.1_Missense_Mutation_p.L24I	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	24					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	AAAACCCGTAGATAGCCTCGG	0.637000													30	168					5.91797e-21	6.44586e-21	1	1	0
FAT1	2195	broad.mit.edu	37	4	187540391	187540391	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr4:187540391G>C	ENST00000441802.2	-	10	7558	c.7349C>G	c.(7348-7350)tCa>tGa	p.S2450*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2450	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.S2450*(2)|p.S2453*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCAGGTTTGAGAGGGTGAT	0.433000										HNSCC(5;0.00058)			25	136					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94857556	94857556	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr15:94857556C>T	ENST00000357742.4	+	2	511	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.H171Y|MCTP2_ENST00000451018.3_Missense_Mutation_p.H171Y	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	171					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACATCTCAACATTTTGAAGA	0.318000													4	21					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104158221	104158221	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr10:104158221G>A	ENST00000369966.3	+	11	1182	c.932G>A	c.(931-933)cGc>cAc	p.R311H	NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Missense_Mutation_p.R311H|NFKB2_ENST00000189444.6_Missense_Mutation_p.R311H	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	311	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CAACTGAAACGCAAGCGAGGA	0.577000			T	IGH@	B-NHL								4	111					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131760889	131760889	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr9:131760889C>T	ENST00000372577.2	+	32	3523	c.3502C>T	c.(3502-3504)Cgg>Tgg	p.R1168W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1168					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TATCCTCCTCCGGCAGTGGAA	0.567000													14	90					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)		GGCAAAACATCTTGTTGAGGG	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)			11	54					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:7577082C>A	ENST00000420246.2	-	8	988	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		AGATTCTCTTCCTCTGTGCGC	0.557000		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	53					6.94344e-10	7.28904e-10	1	1	0
TLN2	83660	broad.mit.edu	37	15	62993399	62993399	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr15:62993399T>G	ENST00000561311.1	+	16	1912	c.1682T>G	c.(1681-1683)gTt>gGt	p.V561G	TLN2_ENST00000306829.6_Missense_Mutation_p.V561G			Q9Y4G6	TLN2_HUMAN	talin 2	561					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTTCAGTTGTTAACCTCACA	0.403000													5	43					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139754396	139754396	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr9:139754396C>G	ENST00000445819.1	+	28	3539	c.3489C>G	c.(3487-3489)ctC>ctG	p.L1163L	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.L1084L			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	1163					protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCCTATTGCTCATGCTCCTGG	0.647000													16	32					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691783	31691783	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr21:31691783T>A	ENST00000360542.3	-	1	824	c.571A>T	c.(571-573)Agt>Tgt	p.S191C		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	191						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						TGGCAACCACTGAACAGAGGC	0.532000													54	314					0	0	1	0	0
CCDC125	202243	broad.mit.edu	37	5	68616398	68616398	+	Translation_Start_Site	SNP	A	A	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:68616398A>C	ENST00000511257.1	-	0	38				CCDC125_ENST00000396499.1_De_novo_Start_InFrame|CCDC125_ENST00000396496.2_De_novo_Start_InFrame|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000383374.2_De_novo_Start_InFrame			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125							cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CATAAGAAAAAATGGGCTGTC	0.413000													11	25					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108092	151108092	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:151108092C>G	ENST00000341697.3	-	14	3099	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	470	Sema.					integral to membrane	receptor activity	p.E470Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCATCAATCTCTTCCAGGAGG	0.602000													67	122					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16360474	16360474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr20:16360474G>A	ENST00000354981.2	-	19	2330	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.Q725*|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.Q725*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	725	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGAAATATCTGAAACTTCTCA	0.443000													29	108					0	0	1	0	0
TOR4A	54863	broad.mit.edu	37	9	140174221	140174221	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr9:140174221C>G	ENST00000357503.2	+	2	1276	c.1080C>G	c.(1078-1080)atC>atG	p.I360M		NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN	torsin family 4, member A	360					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										CCGCGGCCATCGTGCCGTTTC	0.697000													8	10					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366260	7366260	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:7366260C>T	ENST00000311403.4	-	4	2380	c.2041G>A	c.(2041-2043)Ggt>Agt	p.G681S	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G681S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ACACTGGCACCTCCAGCAGCT	0.662000													5	184					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686559	5686559	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:5686559C>T	ENST00000305836.5	-	8	1264	c.962G>A	c.(961-963)aGc>aAc	p.S321N	TRIM5_ENST00000380034.3_Missense_Mutation_p.S321N|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	321	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCGGAGAGCTCACTTGTCT	0.408000													13	69					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	336580	336580	+	Splice_Site	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr9:336580A>T	ENST00000432829.2	+	12	1397		c.e12-1		DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000453981.1_Splice_Site	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTTTTCTTAAAGGGAGAAGCT	0.423000													13	51					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483149	32483149	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:32483149C>T	ENST00000359872.6	-	1	1164	c.403G>A	c.(403-405)Gag>Aag	p.E135K		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	135					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.E135Q(1)								Amiloride(DB00594)	CGCAGGGCCTCCAGCACGGAG	0.597000													26	119					0	0	1	0	0
METTL24	728464	broad.mit.edu	37	6	110567226	110567226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr6:110567226G>A	ENST00000338882.4	-	5	1023	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	CDC40_ENST00000368930.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN	methyltransferase like 24	342						extracellular region											AAGAATAGCTGAGGTTTAGAT	0.403000													15	90					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22094533	22094533	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chrX:22094533G>C	ENST00000379374.4	+	4	942	c.377G>C	c.(376-378)aGg>aCg	p.R126T	PHEX_ENST00000537599.1_Missense_Mutation_p.R126T|PHEX_ENST00000535894.1_Missense_Mutation_p.R29T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	126					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATCAGTAGAAGGCGGGACACC	0.383000													5	35					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25836912	25836912	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr4:25836912G>C	ENST00000399878.3	-	3	889	c.767C>G	c.(766-768)tCc>tGc	p.S256C	SEL1L3_ENST00000264868.5_Missense_Mutation_p.S221C|SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S103C	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	256						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTCTCCACTGGAGGCATAAGG	0.488000													26	100					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440274	145440274	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:145440274G>A	ENST00000369317.4	+	5	914	c.580G>A	c.(580-582)Gag>Aag	p.E194K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	194					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.E194K(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTAGGTGATGAGATTTCCAT	0.478000													21	149					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25885648	25885648	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr10:25885648C>G	ENST00000376351.3	+	10	2434	c.2075C>G	c.(2074-2076)tCt>tGt	p.S692C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	692						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATGGGCCGATCTGGATCCTAC	0.443000													14	42					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39047685	39047685	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:39047685C>T	ENST00000331366.5	-	20	1790	c.1694G>A	c.(1693-1695)tGa>tAa	p.*565*	CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000360449.3_Silent_p.*553*|CPNE8_ENST00000538596.2_Silent_p.*234*	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	0										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AGAGCACAGTCATATTTGAGT	0.458000													7	30					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771657	99771657	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:99771657C>T	ENST00000370185.3	+	7	1880	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	LPPR4_ENST00000370184.1_Silent_p.S303S|LPPR4_ENST00000457765.1_Silent_p.S403S	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		461							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAAAGTTGTCCTTGCAAGTTA	0.502000													39	94					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653304	55653304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:55653304G>T	ENST00000449290.2	+	2	492	c.400G>T	c.(400-402)Gag>Tag	p.E134*		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	134						intracellular	zinc ion binding										GTGGGCTGCTGAGGAACGCCG	0.478000													7	36					2.0095e-06	2.08127e-06	1	1	0
PICK1	9463	broad.mit.edu	37	22	38470962	38470962	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr22:38470962C>G	ENST00000404072.3	+	13	1418	c.1071C>G	c.(1069-1071)gtC>gtG	p.V357V	PICK1_ENST00000356976.3_Silent_p.V357V	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	357	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					ATGCCGACGTCTTCCCCATCG	0.607000													16	59					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													3	38					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74774374	74774374	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:74774374C>T	ENST00000588460.1	+	13	3332	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	MFSD11_ENST00000593181.1_Silent_p.F378F|MFSD11_ENST00000590514.1_Silent_p.F430F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Silent_p.F430F|MFSD11_ENST00000336509.4_Silent_p.F430F|MFSD11_ENST00000355954.3_Silent_p.F378F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	430						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTTCTTTCTTCACTGTGGAAT	0.498000													11	81					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172517948	172517948	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:172517948C>T	ENST00000540014.1	+	4	1085	c.766C>T	c.(766-768)Cac>Tac	p.H256Y	CREBRF_ENST00000522692.1_Missense_Mutation_p.H256Y|CREBRF_ENST00000296953.2_Missense_Mutation_p.H256Y|CREBRF_ENST00000520420.1_Missense_Mutation_p.H256Y			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	256							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GAGCCAGATTCACACAGATGC	0.468000													14	56					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38854693	38854693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr6:38854693C>T	ENST00000359357.3	+	55	7989	c.7735C>T	c.(7735-7737)Cga>Tga	p.R2579*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R2796*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2543*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGGAGGTGGTCGAAATGATAT	0.378000													20	72					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40594185	40594185	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr15:40594185G>C	ENST00000260402.3	-	7	804	c.555C>G	c.(553-555)ctC>ctG	p.L185L	PLCB2_ENST00000543785.2_Silent_p.L185L|PLCB2_ENST00000557821.1_Silent_p.L185L|PLCB2_ENST00000456256.2_Silent_p.L185L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	185					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCACTGAGAGCAGCTT	0.567000													15	62					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50117981	50117981	+	RNA	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chrX:50117981C>T	ENST00000376025.2	-	0	3548							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGCTTTTCATCCAGGAAAGCT	0.473000													5	26					0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18547041	18547041	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:18547041G>A	ENST00000338128.8	-	7	993	c.776C>T	c.(775-777)tCg>tTg	p.S259L	ISYNA1_ENST00000457269.4_Missense_Mutation_p.S205L|ISYNA1_ENST00000545187.1_Missense_Mutation_p.S109L|ISYNA1_ENST00000578963.1_Missense_Mutation_p.S131L|ISYNA1_ENST00000317018.6_Missense_Mutation_p.S57L	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1						inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CGTGGAGGGCGACACCTCCAG	0.677000													7	48					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154732170	154732170	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr6:154732170G>C	ENST00000607772.1	-	11	1721	c.1177C>G	c.(1177-1179)Cgg>Ggg	p.R393G	CNKSR3_ENST00000433165.2_Missense_Mutation_p.R218G|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R313G	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	393	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTTCGTCTCCGGCTTTCCTGG	0.483000													14	150					0	0	1	0	0
LGALS9C	654346	broad.mit.edu	37	17	18394613	18394613	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:18394613G>A	ENST00000328114.6	+	7	684	c.603G>A	c.(601-603)caG>caA	p.Q201Q	LGALS9C_ENST00000584941.1_Silent_p.Q157Q|LGALS9C_ENST00000581545.1_Silent_p.Q169Q|LGALS9C_ENST00000412421.2_Silent_p.Q113Q|LGALS9C_ENST00000583322.1_Silent_p.Q169Q	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	201							sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						ACACGGTGCAGAGTGCCTCTG	0.542000													30	168					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179947	124179947	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:124179947C>T	ENST00000357821.2	-	1	786	c.716G>A	c.(715-717)gGa>gAa	p.G239E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GCTGCATGTTCCAAAAGCTTT	0.517000													17	57					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78399233	78399233	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:78399233G>T	ENST00000278550.7	-	29	5588	c.5126C>A	c.(5125-5127)cCt>cAt	p.P1709H		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CTGGCCAGTAGGGAAGGTCAC	0.507000													31	182					2.81731e-10	2.98455e-10	1	1	0
PTPN14	5784	broad.mit.edu	37	1	214567095	214567095	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:214567095A>C	ENST00000366956.5	-	10	1066	c.872T>G	c.(871-873)aTt>aGt	p.I291S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	291	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CAACCGAGAAATATACTTGGC	0.343000													20	67					0	0	1	0	0
ATP1B2	482	broad.mit.edu	37	17	7557218	7557218	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:7557218G>A	ENST00000250111.4	+	3	708	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	101					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CAGTGACACTGAAAGCTGGGA	0.498000													19	84					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840032	128840032	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:128840032C>T	ENST00000310343.9	-	22	5033	c.5034G>A	c.(5032-5034)ttG>ttA	p.L1678L	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Silent_p.L1329L|ARHGAP32_ENST00000527272.1_Silent_p.L1329L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1678	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAAGGGGTCTCAACTGGACTG	0.512000													23	103					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49649227	49649227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:49649227G>T	ENST00000334186.4	+	22	3122	c.2773G>T	c.(2773-2775)Gag>Tag	p.E925*	PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.E925*	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	925						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GATGACACACGAGGAGATGGA	0.647000											OREG0025618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	130					1.64293e-13	1.7565e-13	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33142356	33142356	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr6:33142356C>T	ENST00000341947.2	-	31	2605	c.2378G>A	c.(2377-2379)gGc>gAc	p.G793D	COL11A2_ENST00000374713.1_Splice_Site_p.G746D|COL11A2_ENST00000374714.1_Splice_Site_p.G767D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Splice_Site_p.G733D|COL11A2_ENST00000357486.1_Splice_Site_p.G772D|COL11A2_ENST00000361917.1_Splice_Site_p.G686D|COL11A2_ENST00000374712.1_Splice_Site_p.G712D|COL11A2_ENST00000374708.4_Splice_Site_p.G707D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	793	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCCAGCTTGCCCTGTGGAGG	0.617000													3	37					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704110	131704110	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr2:131704110C>T	ENST00000409359.1	+	4	4095	c.2897C>T	c.(2896-2898)cCa>cTa	p.P966L	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.P110L|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.P110L|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.P110L|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.P110L|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.P110L			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	110					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)		ATTACCTCTCCAGAGTCTTTG	0.522000													18	129					0	0	1	0	0
POU4F1	5457	broad.mit.edu	37	13	79176005	79176005	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr13:79176005C>G	ENST00000377208.5	-	2	1016	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607860.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	269	POU-specific.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GCGAACGCCTCGAGCTCGCGC	0.756000													5	23					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27706492	27706492	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr2:27706492G>C	ENST00000260570.3	-	6	540	c.437C>G	c.(436-438)tCt>tGt	p.S146C	IFT172_ENST00000359466.6_Missense_Mutation_p.S146C|IFT172_ENST00000416524.2_Missense_Mutation_p.S125C	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	146					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATAGATGGTAGATGATTTATT	0.368000													16	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179666927	179666927	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr2:179666927T>C	ENST00000589042.1	-	3	457	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	TTN_ENST00000342992.6_Missense_Mutation_p.Y78C|TTN_ENST00000359218.5_Missense_Mutation_p.Y78C|TTN_ENST00000360870.5_Missense_Mutation_p.Y78C|TTN_ENST00000460472.2_Missense_Mutation_p.Y78C|TTN_ENST00000342175.6_Missense_Mutation_p.Y78C|TTN_ENST00000591111.1_Missense_Mutation_p.Y78C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	78	Ig-like 1.						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)			TTTCAGGGAATATCGTCCACT	0.562000													21	108					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21486650	21486650	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr14:21486650G>C	ENST00000556147.1	-	13	1767	c.827C>G	c.(826-828)tCa>tGa	p.S276*	NDRG2_ENST00000350792.3_Nonsense_Mutation_p.S262*|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000554104.1_Nonsense_Mutation_p.S189*|NDRG2_ENST00000553503.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000403829.3_Nonsense_Mutation_p.S272*|NDRG2_ENST00000397851.2_Nonsense_Mutation_p.S276*|NDRG2_ENST00000397847.2_Nonsense_Mutation_p.S265*|NDRG2_ENST00000298684.5_Nonsense_Mutation_p.S233*|NDRG2_ENST00000298687.5_Nonsense_Mutation_p.S276*|NDRG2_ENST00000554143.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000397858.1_Nonsense_Mutation_p.S276*|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397855.3_Nonsense_Mutation_p.S233*|NDRG2_ENST00000397853.3_Nonsense_Mutation_p.S276*|NDRG2_ENST00000360463.3_Nonsense_Mutation_p.S262*|NDRG2_ENST00000555158.1_Nonsense_Mutation_p.S262*			Q9UN36	NDRG2_HUMAN	NDRG family member 2	276					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GTCCAGTTTTGAGTTACATTC	0.577000													8	31					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45389127	45389127	+	Silent	SNP	G	G	A	rs115875072	byFrequency	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr21:45389127G>A	ENST00000398063.2	+	4	969	c.477G>A	c.(475-477)ctG>ctA	p.L159L	AGPAT3_ENST00000398061.1_Silent_p.L159L|AGPAT3_ENST00000398058.1_Silent_p.L159L|AGPAT3_ENST00000546158.1_Silent_p.L159L|AGPAT3_ENST00000291572.8_Silent_p.L159L|AGPAT3_ENST00000327505.2_Silent_p.L159L|AGPAT3_ENST00000479117.1_3'UTR	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	159					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCGAAGGGCTGAGGCGCCTGT	0.632000													29	86					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111580178	111580178	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr7:111580178G>A	ENST00000428084.1	-	11	1236	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	DOCK4_ENST00000437633.1_Silent_p.L322L|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	322					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TATACTTTCAGAATGAGGTCA	0.493000													12	67					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145438895	145438895	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:145438895G>C	ENST00000369317.4	+	1	427	c.93G>C	c.(91-93)gtG>gtC	p.V31V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	31					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGCCGGGTGATAGTGGAGG	0.517000													7	91					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64132828	64132828	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:64132828G>A	ENST00000295902.6	-	7	1923	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	PRICKLE2_ENST00000564377.1_Silent_p.F502F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	446						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGGGGTTGCTGAAGTGCTTGC	0.582000													30	79					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54870186	54870186	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr2:54870186C>G	ENST00000333896.5	+	18	4271	c.3886C>G	c.(3886-3888)Ctg>Gtg	p.L1296V	SPTBN1_ENST00000356805.4_Missense_Mutation_p.L1309V	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1309					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCCAGAAATCTGCACAGTAA	0.413000													18	92					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67414351	67414351	+	Missense_Mutation	SNP	G	G	C	rs145934175		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:67414351G>C	ENST00000255082.3	-	3	334	c.164C>G	c.(163-165)cCg>cGg	p.P55R	ACY3_ENST00000529256.1_5'UTR	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	55					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TGTGGCTGCCGGGTTGGCCAG	0.662000													8	24					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476791	17476791	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:17476791C>T	ENST00000252590.4	-	3	544	c.483G>A	c.(481-483)ctG>ctA	p.L161L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	161						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTTCTGATTCAGCATGAAGA	0.572000													12	58					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250913	140250913	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:140250913G>A	ENST00000398640.2	+	1	2225	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCTCCCGCGCGGTGGGG	0.677000													15	56					0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5123174	5123174	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr16:5123174T>C	ENST00000262374.5	+	3	338	c.307T>C	c.(307-309)Tac>Cac	p.Y103H	ALG1_ENST00000544428.1_5'UTR|ALG1_ENST00000588623.1_5'UTR	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	103					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				AGTTTTCCAGTACGGAGTCAA	0.517000													15	50					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864366	153864366	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr4:153864366G>A	ENST00000511601.1	+	2	345	c.157G>A	c.(157-159)Gag>Aag	p.E53K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E53K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	53					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TTCAAGGGAAGAGTGTCCTTC	0.607000													6	18					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210736	126210736	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr6:126210736C>T	ENST00000368357.3	+	10	1888	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	NCOA7_ENST00000392477.2_Silent_p.N512N|NCOA7_ENST00000229634.9_Silent_p.N397N	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	512					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACACACTGAACATACATGAAG	0.388000													14	63					0	0	1	0	0
NDUFA13	51079	broad.mit.edu	37	19	19640241	19640241	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:19640241C>G	ENST00000512771.3	+	6	504	c.494C>G	c.(493-495)tCc>tGc	p.S165C	CTC-260F20.3_ENST00000555938.1_Intron|YJEFN3_ENST00000514277.4_Missense_Mutation_p.S43C|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000608404.1_Intron|YJEFN3_ENST00000436027.5_Intron					NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GCTACCACCTCCCTTGTCCAG	0.597000													9	44					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33371331	33371331	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr21:33371331G>A	ENST00000270112.2	+	11	2339	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	660					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTGAAAAGCCGAGGCCGGTTC	0.612000													16	97					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	156					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73070139	73070139	+	RNA	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chrX:73070139G>C	ENST00000429829.1	-	0	2449					NR_001564.2																						AATTTGTAATGAGAAGCTAAA	0.259000													5	27					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79609675	79609675	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr8:79609675C>G	ENST00000263849.4	+	6	640	c.538C>G	c.(538-540)Cct>Gct	p.P180A	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	180																	GTCAAATTCTCCTGGAACTGC	0.368000													9	55					0	0	1	0	0
CD69	969	broad.mit.edu	37	12	9913402	9913402	+	Silent	SNP	A	A	G	rs149884332	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:9913402A>G	ENST00000228434.3	-	1	95	c.15T>C	c.(13-15)aaT>aaC	p.N5N	CD69_ENST00000536709.1_Silent_p.N5N	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	5						integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTACGAAACAATTTTCAGAGC	0.408000													14	88					0	0	1	0	0
TAF12	6883	broad.mit.edu	37	1	28931969	28931969	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:28931969C>T	ENST00000263974.4	-	5	799	c.365G>A	c.(364-366)cGc>cAc	p.R122H	TAF12_ENST00000471683.1_5'UTR|TAF12_ENST00000373824.4_Missense_Mutation_p.R122H	NM_001135218.1	NP_001128690.1	Q16514	TAF12_HUMAN	TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa	122					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|upper_aerodigestive_tract(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)		Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCCACTGGCGCTCTGCAAG	0.512000													14	80					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118382708	118382708	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:118382708C>G	ENST00000534358.1	+	31	11137	c.11114C>G	c.(11113-11115)tCa>tGa	p.S3705*	RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.S3702*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S3664*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAAGCTCGATCAAATGCCCGC	0.428000													7	38					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9637283	9637283	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr2:9637283G>A	ENST00000310823.3	-	14	1925	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	581	Cys-rich.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCTCTCGCAGAAAGGGATGC	0.507000													31	79					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6484078	6484078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:6484078C>A	ENST00000360168.3	-	1	312	c.49G>T	c.(49-51)Gag>Tag	p.E17*	SCNN1A_ENST00000543768.1_Intron|SCNN1A_ENST00000228916.2_Intron|SCNN1A_ENST00000358945.3_5'UTR|SCNN1A_ENST00000538979.1_Intron	NM_001159576.1	NP_001153048.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	22					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TGAGTGCCCTCTCCCATCACC	0.652000													4	21					0.00024832	0.00025379	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													5	155					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14550396	14550396	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chrX:14550396G>C	ENST00000218075.4	+	2	634	c.104G>C	c.(103-105)gGa>gCa	p.G35A	GLRA2_ENST00000355020.4_Missense_Mutation_p.G35A|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	35					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCCAGGTCTGGAAAACAACCT	0.413000													21	78					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68956794	68956794	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr8:68956794G>C	ENST00000288368.4	+	8	1189	c.912G>C	c.(910-912)gtG>gtC	p.V304V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	304	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACACGGAGGTGATGGAAGTGG	0.413000													13	120					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819241	12819241	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:12819241G>C	ENST00000379672.5	+	5	600	c.300G>C	c.(298-300)gaG>gaC	p.E100D	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E100D|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E100D	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	100	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCTGTGGAGAGACGGAGGACA	0.493000													12	27					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62836958	62836958	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr20:62836958G>A	ENST00000536311.1	+	6	566	c.202G>A	c.(202-204)Gag>Aag	p.E68K	MYT1_ENST00000328439.1_Missense_Mutation_p.E68K|MYT1_ENST00000360149.4_Missense_Mutation_p.E68K			Q01538	MYT1_HUMAN	myelin transcription factor 1	68					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGCTGAGGCTGAGCACCTGGT	0.622000													15	74					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10514903	10514903	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:10514903C>T	ENST00000444303.2	+	6	942	c.470C>T	c.(469-471)aCa>aTa	p.T157I	AMPD3_ENST00000396554.3_Missense_Mutation_p.T325I	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	316					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGGTGGACACACACATCCAT	0.577000													44	160					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28032225	28032225	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr10:28032225G>A	ENST00000375790.5	-	2	552	c.120C>T	c.(118-120)cgC>cgT	p.R40R	MKX_ENST00000419761.1_Silent_p.R40R			Q8IYA7	MKX_HUMAN	mohawk homeobox	40			R -> H (in dbSNP:rs34439626).		muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCACCTCGGGGCGGGCGTGAG	0.726000													10	33					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111019559	111019559	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chrX:111019559T>C	ENST00000262839.2	-	11	3822	c.2904A>G	c.(2902-2904)caA>caG	p.Q968Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	968					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGTTGTAACTTGTTCTTCCT	0.423000													5	62					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13476201	13476201	+	Silent	SNP	A	A	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:13476201A>G	ENST00000360228.5	-	5	713	c.714T>C	c.(712-714)ctT>ctC	p.L238L	CACNA1A_ENST00000573710.2_Silent_p.L238L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	238					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTGCAAAAATAAGGATTGCAA	0.458000													14	95					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394792	86394792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr7:86394792G>T	ENST00000361669.2	+	2	1430	c.331G>T	c.(331-333)Gag>Tag	p.E111*	GRM3_ENST00000394720.2_Nonsense_Mutation_p.E109*|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Nonsense_Mutation_p.E111*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	111					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCAATCACTGGAGTTTGTCAG	0.418000													5	182					1.23904e-05	1.27193e-05	1	1	0
NUMB	8650	broad.mit.edu	37	14	73753886	73753886	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr14:73753886C>G	ENST00000556772.1	-	3	2442	c.155G>C	c.(154-156)cGt>cCt	p.R52P	NUMB_ENST00000355058.3_Missense_Mutation_p.R196P|NUMB_ENST00000359560.3_Missense_Mutation_p.R185P|NUMB_ENST00000557597.1_Missense_Mutation_p.R185P|NUMB_ENST00000356296.4_Missense_Mutation_p.R196P|NUMB_ENST00000454166.4_Missense_Mutation_p.R196P|NUMB_ENST00000555738.2_Missense_Mutation_p.R185P|NUMB_ENST00000544991.3_Missense_Mutation_p.R196P|NUMB_ENST00000559312.1_Missense_Mutation_p.R196P|NUMB_ENST00000555394.1_Missense_Mutation_p.R196P|NUMB_ENST00000554546.1_Missense_Mutation_p.R185P|NUMB_ENST00000535282.1_Missense_Mutation_p.R185P|NUMB_ENST00000560335.1_Missense_Mutation_p.R196P|NUMB_ENST00000555238.1_Missense_Mutation_p.R196P|NUMB_ENST00000554521.2_Missense_Mutation_p.R185P			P49757	NUMB_HUMAN	numb homolog (Drosophila)	196	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TGTTGTGACACGGAATGATCC	0.448000													14	83					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54496484	54496484	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chrX:54496484G>A	ENST00000375135.3	-	4	1799	c.1066C>T	c.(1066-1068)Cca>Tca	p.P356S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	356					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGGGCACTGGGATTTCTCTG	0.597000													9	33					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19487443	19487443	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:19487443C>T	ENST00000375267.2	-	38	5377	c.5374G>A	c.(5374-5376)Gta>Ata	p.V1792I	UBR4_ENST00000375217.2_Missense_Mutation_p.V1792I|UBR4_ENST00000375254.3_Missense_Mutation_p.V1792I|UBR4_ENST00000375226.2_Missense_Mutation_p.V1792I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1792					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCCTCTACTGTGCGGCAG	0.542000													7	46					0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66605889	66605889	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:66605889G>A	ENST00000360962.4	+	15	1727	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	C11orf80_ENST00000540737.1_Missense_Mutation_p.D408N|C11orf80_ENST00000525449.2_Missense_Mutation_p.D382N|C11orf80_ENST00000346672.4_Missense_Mutation_p.D383N|C11orf80_ENST00000532565.2_Missense_Mutation_p.D356N|C11orf80_ENST00000527634.1_Missense_Mutation_p.D357N	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	419										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GGACGCACCTGATAACAGCAG	0.443000													11	58					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88218312	88218312	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr8:88218312C>T	ENST00000518476.1	+	5	574	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	175										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGATAAGCATCTGAAAACACT	0.398000													5	30					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18174767	18174767	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:18174767C>T	ENST00000600835.2	-	14	1835	c.1537G>A	c.(1537-1539)Ggt>Agt	p.G513S	IL12RB1_ENST00000593993.2_Missense_Mutation_p.G513S			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TAGGCTACACCAGCCCGCAGG	0.637000													6	29					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464640	5464640	+	Silent	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:5464640C>G	ENST00000296564.7	+	13	5415	c.5193C>G	c.(5191-5193)ctC>ctG	p.L1731L		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1731	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGGCCGACTCCCACCCTGTG	0.597000													7	47					0	0	1	0	0
C10orf25	220979	broad.mit.edu	37	10	45496299	45496299	+	Silent	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr10:45496299C>A	ENST00000298298.1	-	1	37	c.9G>T	c.(7-9)ccG>ccT	p.P3P	ZNF22_ENST00000298299.3_5'UTR	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	3						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						CGGGTGGGCCCGGGACCATAG	0.672000													4	8					1	1	1	1	0
PRF1	5551	broad.mit.edu	37	10	72358594	72358594	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr10:72358594T>C	ENST00000441259.1	-	3	1043	c.883A>G	c.(883-885)Acc>Gcc	p.T295A	PRF1_ENST00000373209.2_Missense_Mutation_p.T295A	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	295	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCCCGGTAGGTTTGGTGGAAG	0.607000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				27	73					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154112367	154112367	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:154112367C>G	ENST00000368559.3	-	5	699	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.E210Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	210						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTTTCTCCTCTTTTTCCATC	0.338000													105	243					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36221656	36221656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:36221656G>A	ENST00000222270.7	+	26	5325	c.5325G>A	c.(5323-5325)tgG>tgA	p.W1775*	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.W1775*	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GGCGCTGCTGGTATCGGTGCC	0.597000													11	70					0	0	1	0	0
BAG5	9529	broad.mit.edu	37	14	104027261	104027261	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr14:104027261C>G	ENST00000445922.2	-	2	487	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	BAG5_ENST00000337322.4_Missense_Mutation_p.E122Q|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.E81Q	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	81	BAG 1.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TGCTCCAACTCTTTGAGAAGA	0.428000													24	109					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47440647	47440647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:47440647G>T	ENST00000404338.3	+	2	3808	c.3808G>T	c.(3808-3810)Gag>Tag	p.E1270*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1270	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AAGATGTATTGAGTACATTGA	0.433000													16	65					2.94398e-08	3.0628e-08	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10610363	10610363	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:10610363C>G	ENST00000171111.5	-	2	894	c.347G>C	c.(346-348)cGg>cCg	p.R116P	KEAP1_ENST00000393623.2_Missense_Mutation_p.R116P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	116	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCCTGCTCCCGCAGCCCGTT	0.612000													11	58					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846852	123846852	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr10:123846852G>T	ENST00000369005.1	+	4	5177	c.4837G>T	c.(4837-4839)Gat>Tat	p.D1613Y	TACC2_ENST00000334433.3_Missense_Mutation_p.D1613Y|TACC2_ENST00000453444.2_Missense_Mutation_p.D1613Y|TACC2_ENST00000515273.1_Missense_Mutation_p.D1613Y|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1613Y	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1613						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACATGGAGAAGATGGTCCCGG	0.582000													22	69					4.35082e-09	4.5468e-09	1	1	0
TXNIP	10628	broad.mit.edu	37	1	145439609	145439609	+	Silent	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:145439609G>C	ENST00000369317.4	+	2	601	c.267G>C	c.(265-267)gtG>gtC	p.V89V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	89					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAGATGGTGATCATGAGAC	0.403000													17	131					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124383508	124383508	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr8:124383508C>G	ENST00000287394.5	-	5	714	c.607G>C	c.(607-609)Gaa>Caa	p.E203Q	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCCAAGTCTTCAAGTTCTCTC	0.308000													8	28					0	0	1	0	0
LINC00691	152024	broad.mit.edu	37	3	24138674	24138674	+	RNA	SNP	T	T	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:24138674T>G	ENST00000436123.1	-	0	2049																											TTGCCTCTGCTTCAACAATGT	0.418000													3	10					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144886946	144886946	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr8:144886946A>T	ENST00000356994.2	-	21	2807	c.2801T>A	c.(2800-2802)cTg>cAg	p.L934Q	SCRIB_ENST00000320476.3_Missense_Mutation_p.L934Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.L853Q	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	934	Interaction with ARHGEF7.|PDZ 2.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCGGTCAGCAGGGAGACGGC	0.662000													4	22					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31354171	31354171	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr14:31354171G>C	ENST00000382493.4	+	3	310	c.210G>C	c.(208-210)caG>caC	p.Q70H	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Intron|COCH_ENST00000216361.4_Intron|COCH_ENST00000475087.1_Intron|COCH_ENST00000460581.2_Intron|RP11-829H16.3_ENST00000555421.1_RNA			O43405	COCH_HUMAN	cochlin	244	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AAAATCAACAGACTTATCTAA	0.358000													20	60					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750586	167750586	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:167750586C>T	ENST00000470487.1	-	9	1587	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E272K	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	300					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTTGTGTCTTCTGCTCTTCCA	0.483000													57	78					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3330299	3330299	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr9:3330299C>T	ENST00000382004.3	-	5	745	c.434G>A	c.(433-435)gGt>gAt	p.G145D	RFX3_ENST00000302303.1_Missense_Mutation_p.G145D|RFX3_ENST00000358730.2_Missense_Mutation_p.G145D	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	145					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CACTGAGTGACCAGAATTCTC	0.458000													7	63					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444142	49444142	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:49444142T>A	ENST00000301067.7	-	11	3228	c.3229A>T	c.(3229-3231)Aaa>Taa	p.K1077*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCTGAAACTTTCTCAGTCTCC	0.617000													5	24					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111558772	111558772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:111558772A>T	ENST00000304987.3	+	4	537	c.364A>T	c.(364-366)Aaa>Taa	p.K122*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	122	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGCCAGGCGAAAATTCTGGCA	0.403000													13	56					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24429286	24429286	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr6:24429286G>C	ENST00000230036.1	-	25	2607	c.2497C>G	c.(2497-2499)Cac>Gac	p.H833D		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	833						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTATAGACGTGAAGTGCCCCG	0.488000													8	48					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145584822	145584822	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:145584822C>A	ENST00000393045.2	+	13	1696	c.1606C>A	c.(1606-1608)Cag>Aag	p.Q536K	PIAS3_ENST00000369298.1_Missense_Mutation_p.Q501K	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	536					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCATTTCTTCAGACAGAGAG	0.423000													30	76					7.11191e-15	7.63872e-15	1	1	0
HKDC1	80201	broad.mit.edu	37	10	71002944	71002944	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr10:71002944G>A	ENST00000354624.5	+	7	831	c.698G>A	c.(697-699)gGc>gAc	p.G233D	HKDC1_ENST00000395086.2_Missense_Mutation_p.G233D	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	233					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						TCAGGAACTGGCACCAATGCG	0.562000													21	114					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19960805	19960805	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr22:19960805G>A	ENST00000263207.3	-	14	2566	c.2275C>T	c.(2275-2277)Cgc>Tgc	p.R759C	ARVCF_ENST00000401994.1_Missense_Mutation_p.R696C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R690C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R753C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R696C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	759					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGTGCATTGCGCACATTCCGC	0.637000													5	20					0	0	1	0	0
GIN1	54826	broad.mit.edu	37	5	102432327	102432327	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:102432327C>T	ENST00000399004.2	-	7	1306	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	404					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGTTGTCTCTCAGGACAGCAC	0.413000													47	179					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46125015	46125015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr12:46125015C>T	ENST00000334344.6	+	3	374	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	68	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAGAAGAATCAGTGGGGAGA	0.378000			"""N, S, F"""		hepatocellular carcinoma								16	64					0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432366	72432366	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr15:72432366G>C	ENST00000544411.1	+	3	889	c.402G>C	c.(400-402)gaG>gaC	p.E134D	SENP8_ENST00000542035.2_Missense_Mutation_p.E134D|SENP8_ENST00000544171.1_Missense_Mutation_p.E134D|SENP8_ENST00000340912.4_Missense_Mutation_p.E134D	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	134	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						AGGTAGCAGAGAAACTGGAGG	0.453000													11	74					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17675190	17675190	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr6:17675190G>A	ENST00000262077.2	-	5	797	c.798C>T	c.(796-798)taC>taT	p.Y266Y	NUP153_ENST00000537253.1_Silent_p.Y266Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	266					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCCCCACCGTATGTTGTTT	0.373000													17	60					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454248	35454248	+	Missense_Mutation	SNP	C	C	T	rs148541461		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr11:35454248C>T	ENST00000378880.2	-	11	2264	c.1819G>A	c.(1819-1821)Gtg>Atg	p.V607M	PAMR1_ENST00000532848.1_Missense_Mutation_p.V567M|PAMR1_ENST00000378878.3_Missense_Mutation_p.V496M|PAMR1_ENST00000278360.3_Missense_Mutation_p.V624M	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	607	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGGCTCCTCACGTCTGCCAGG	0.617000													10	56					0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398650	38398650	+	RNA	SNP	A	A	C	rs76431362		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr7:38398650A>C	ENST00000390346.2	-	0	113																											CTTAAAACTCAGGCCCCACTC	0.527000													3	11					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139698986	139698986	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr9:139698986C>G	ENST00000338005.6	+	7	734	c.699C>G	c.(697-699)atC>atG	p.I233M	KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.18_ENST00000471502.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	233										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CGTCCTTCATCGAGGAGCGCC	0.602000													30	43					0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50884577	50884577	+	Silent	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:50884577G>A	ENST00000404795.3	-	3	1781	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	DMRTA2_ENST00000418121.1_Silent_p.L463L	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	463	Ala-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						GCAGGGGGCTGAGGCCGAGCG	0.756000													6	6					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635868	44635868	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:44635868G>C	ENST00000322734.2	+	3	516	c.183G>C	c.(181-183)caG>caC	p.Q61H	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCTTTAGTCAGAGTGCAAACC	0.438000													14	42					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16953703	16953703	+	RNA	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:16953703G>A	ENST00000412962.1	-	0	558																											GCAGCGTGGCGCGGCTCAGCG	0.637000													6	100					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939937	50939937	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:50939937G>C	ENST00000357701.5	+	5	460	c.409G>C	c.(409-411)Gag>Cag	p.E137Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	137	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TTACCGCCTCGAGGTCAAAGC	0.612000													24	115					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127642825	127642825	+	Missense_Mutation	SNP	C	C	T	rs146171341	by1000genomes	TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr9:127642825C>T	ENST00000373555.4	-	23	2621	c.2288G>A	c.(2287-2289)cGg>cAg	p.R763Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	763						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CCATGGTATCCGAGGGTTTGA	0.502000													23	169					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68228128	68228128	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr14:68228128C>T	ENST00000347230.4	-	35	6681	c.6543G>A	c.(6541-6543)gtG>gtA	p.V2181V	ZFYVE26_ENST00000555452.1_Silent_p.V2181V|ZFYVE26_ENST00000557306.1_Silent_p.V27V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2181					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCTGTGCCTCACGTAGAAGC	0.517000													6	24					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101060534	101060534	+	Silent	SNP	T	T	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:101060534T>C	ENST00000394095.2	-	15	2249	c.2196A>G	c.(2194-2196)ccA>ccG	p.P732P	SENP7_ENST00000394091.1_Silent_p.P568P|SENP7_ENST00000348610.3_Silent_p.P699P|SENP7_ENST00000314261.7_Silent_p.P666P|SENP7_ENST00000358203.3_Silent_p.P568P|SENP7_ENST00000394094.2_Silent_p.P667P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	732					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTCTTCATCTGGATTAGATG	0.433000													28	38					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387808	46387808	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:46387808C>T	ENST00000302165.3	-	1	1568	c.1225G>A	c.(1225-1227)Ggc>Agc	p.G409S		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TACGGGCCGCCGGGTGCCACC	0.721000													10	53					0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38498963	38498963	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr17:38498963G>C	ENST00000394081.3	+	1	349	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	RARA_ENST00000254066.5_Intron|RARA_ENST00000425707.3_Intron|CTD-2267D19.2_ENST00000581080.1_RNA|RARA_ENST00000394089.2_Intron|RARA_ENST00000394086.3_Intron	NM_001024809.3	NP_001019980.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	0	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AAAGATGTACGAGAGTGTAGA	0.632000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								21	101					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102312479	102312479	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:102312479C>G	ENST00000338858.5	-	1	50	c.51G>C	c.(49-51)atG>atC	p.M17I	OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000359814.3_Missense_Mutation_p.M17I|OLFM3_ENST00000370103.4_Intron			Q96PB7	NOE3_HUMAN	olfactomedin 3	17						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGTTTGAGATCATTGCCATGG	0.507000													24	91					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738085	102738085	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr10:102738085G>A	ENST00000210633.3	+	5	547	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E157K|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E157K			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	157	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AACCAGCTTCGAGGAGGGGAA	0.532000													5	10					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228195544	228195544	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr2:228195544G>A	ENST00000353339.3	+	4	682	c.241G>A	c.(241-243)Gag>Aag	p.E81K	MFF_ENST00000476924.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.E81K|MFF_ENST00000354503.6_Missense_Mutation_p.E55K|MFF_ENST00000337110.7_Missense_Mutation_p.E55K|MFF_ENST00000304593.9_Missense_Mutation_p.E55K|MFF_ENST00000409616.1_Missense_Mutation_p.E55K|MFF_ENST00000409565.1_Missense_Mutation_p.E55K|MFF_ENST00000349901.7_Missense_Mutation_p.E55K|MFF_ENST00000524634.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	81						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GCAAGTTCCGGAGAGGATTGT	0.388000													9	29					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	77					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74077445	74077445	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr5:74077445G>C	ENST00000389156.4	-	13	1943	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.S558C	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	618										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TTGCTCGGAAGATGCTTCAGA	0.468000													21	134					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028509	100028509	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr7:100028509C>A	ENST00000310512.2	+	1	1256	c.868C>A	c.(868-870)Ctc>Atc	p.L290I	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	290							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGCCCCTCTCACCCCCTT	0.667000													36	102					4.34311e-12	4.62202e-12	1	1	0
NFASC	23114	broad.mit.edu	37	1	204953164	204953164	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr1:204953164C>T	ENST00000367172.4	+	22	2808	c.2480C>T	c.(2479-2481)gCt>gTt	p.A827V	NFASC_ENST00000404076.1_Missense_Mutation_p.A806V|NFASC_ENST00000367171.4_Missense_Mutation_p.A812V|NFASC_ENST00000338515.6_Missense_Mutation_p.A827V|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000539706.1_Missense_Mutation_p.A823V|NFASC_ENST00000513543.1_Missense_Mutation_p.A823V|NFASC_ENST00000338586.6_Missense_Mutation_p.A827V|NFASC_ENST00000404907.1_Missense_Mutation_p.A823V|NFASC_ENST00000360049.4_Missense_Mutation_p.A823V|NFASC_ENST00000367170.4_Missense_Mutation_p.A827V|NFASC_ENST00000401399.1_Intron			O94856	NFASC_HUMAN	neurofascin	827	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATCCCAGGGCTGCGCCCACT	0.562000													13	32					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088246	17088246	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:17088246C>T	ENST00000443236.1	-	15	1862	c.1831G>A	c.(1831-1833)Gtc>Atc	p.V611I	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	564						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTCTCCCTGACGTAGAAGACC	0.592000													16	94					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctgccagtg>ctg	p.PV15del	PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	3	---	---	---	---					
OVOS2	144203	broad.mit.edu	37	12	31270080	31270081	+	RNA	INS	-	-	AAA	rs112314315		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr12:31270080_31270081insAAA	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CGTTAAACTGGATCTCACTGGA	0.505													8	15	---	---	---	---					
KLF5	688	broad.mit.edu	37	13	73636680	73636683	+	Frame_Shift_Del	DEL	CAAG	CAAG	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr13:73636680_73636683delCAAG	ENST00000377687.4	+	2	1479_1482	c.943_946delCAAG	c.(943-948)caagcafs	p.QA315fs	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Del_p.QA224fs	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	315					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCCAGATAGACAAGCAGAGATGCT	0.495													19	142	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138377	20138377	+	RNA	DEL	A	A	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:20138377delA	ENST00000548261.1	+	0	391																											CAaaagaaagaaagaaagaaa	0.383													6	11	---	---	---	---					
OR4M1	441670	broad.mit.edu	37	14	20248931	20248931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:20248931delG	ENST00000315957.4	+	1	531	c.450delG	c.(448-450)atgfs	p.M150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCCTGGATGGGGGGCTTCA	0.502													7	582	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256630	69256631	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr14:69256630_69256631insG	ENST00000439696.2	-	2	937_938	c.636_637insC	c.(634-639)gccaccfs	p.T213fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.T213fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	213					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		gcagcggcggtggcagcggcAC	0.693											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	140	---	---	---	---					
FBN1	2200	broad.mit.edu	37	15	48826273	48826286	+	Splice_Site	DEL	TTACCTTCACATTT	TTACCTTCACATTT	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr15:48826273_48826286delTTACCTTCACATTT	ENST00000316623.5	-	8	1308_1318	c.853_863delAAATGTGAAGGTAA	c.(853-864)aaatgtgaaggt>t	p.KCEG285fs		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	285	EGF-like 4; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATAAGATTTCTTACCTTCACATTTTTGTGACACT	0.435													11	586	---	---	---	---					
HCFC1R1	54985	broad.mit.edu	37	16	3073515	3073517	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:3073515_3073517delCTC	ENST00000248089.3	-	2	414_416	c.110_112delGAG	c.(109-114)ggagct>gct	p.G37del	HCFC1R1_ENST00000574151.1_Intron|HCFC1R1_ENST00000574980.1_In_Frame_Del_p.G37del|HCFC1R1_ENST00000354679.3_Intron|HCFC1R1_ENST00000572355.1_5'UTR|HCFC1R1_ENST00000396916.1_In_Frame_Del_p.G37del	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	37						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						ATGGGCACAGCTCCTCGGAGAGG	0.626													9	43	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546141	3546141	+	RNA	DEL	A	A	-	rs74546027		TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr16:3546141delA	ENST00000574423.2	+	0	111																											actccgtctcaaaaaaaaaaa	0.557													4	6	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36222827	36222828	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	8128a926-0322-4102-b121-bfd6e641e3bb	g.chr19:36222827_36222828insC	ENST00000420124.1	+	27	5456_5457	c.5456_5457insC	c.(5455-5460)gaccccfs	p.DP1819fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Frame_Shift_Ins_p.DP1819fs					lysine (K)-specific methyltransferase 2B																		GGTGGTGAGGACCCCCCACTGG	0.614													12	57	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													7	132	---	---	---	---					
KLF5	688	broad.mit.edu	37	13	73636680	73636683	+	Frame_Shift_Del	DEL	CAAG	CAAG	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr13:73636680_73636683delCAAG	ENST00000377687.4	+	2	1479_1482	c.943_946delCAAG	c.(943-948)caagcafs	p.QA315fs	KLF5_ENST00000539231.1_Frame_Shift_Del_p.QA224fs|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	315					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCCAGATAGACAAGCAGAGATGCT	0.495													19	142	---	---	---	---					
FBN1	2200	broad.mit.edu	37	15	48826273	48826286	+	Splice_Site	DEL	TTACCTTCACATTT	TTACCTTCACATTT	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr15:48826273_48826286delTTACCTTCACATTT	ENST00000316623.5	-	8	1308_1318	c.853_863delAAATGTGAAGGTAA	c.(853-864)aaatgtgaaggt>t	p.KCEG285fs		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	285	EGF-like 4; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATAAGATTTCTTACCTTCACATTTTTGTGACACT	0.435													11	586	---	---	---	---					
HCFC1R1	54985	broad.mit.edu	37	16	3073515	3073517	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr16:3073515_3073517delCTC	ENST00000248089.3	-	2	414_416	c.110_112delGAG	c.(109-114)ggagct>gct	p.G37del	HCFC1R1_ENST00000572355.1_5'UTR|HCFC1R1_ENST00000396916.1_In_Frame_Del_p.G37del|HCFC1R1_ENST00000574151.1_Intron|HCFC1R1_ENST00000574980.1_In_Frame_Del_p.G37del|HCFC1R1_ENST00000354679.3_Intron	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	37						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						ATGGGCACAGCTCCTCGGAGAGG	0.626													9	43	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36222827	36222828	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3WC-01A-31D-A22Z-08	TCGA-GC-A3WC-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4892732c-1a8e-4481-b69a-0485ad5c80af	06070050-15e3-45fb-ba43-ba012fdebaf1	g.chr19:36222827_36222828insC	ENST00000420124.1	+	27	5456_5457	c.5456_5457insC	c.(5455-5460)gaccccfs	p.DP1819fs	KMT2B_ENST00000222270.7_Frame_Shift_Ins_p.DP1819fs|KMT2B_ENST00000607650.1_RNA					lysine (K)-specific methyltransferase 2B																		GGTGGTGAGGACCCCCCACTGG	0.614													12	57	---	---	---	---					
