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
MROH9	80133	broad.mit.edu	37	1	170964579	170964579	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:170964579C>T	ENST00000367759.4	+	13	1398	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V	MROH9_ENST00000367758.3_Missense_Mutation_p.A415V	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.A415V(3)									TACAGGAAAGCGGTGGCCCAG	0.473000													18	118					0	0	0.007413	0	0
ZFPM2	23414	broad.mit.edu	37	8	106801053	106801053	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:106801053C>T	ENST00000407775.2	+	6	890	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L82F|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L82F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	214					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.L214F(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCAGATGACTCTCACAGAAGG	0.498000													10	86					0	0	0.006214	0	0
RTTN	25914	broad.mit.edu	37	18	67718785	67718785	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:67718785C>A	ENST00000255674.6	-	39	5472		c.e39-1		RTTN_ENST00000454359.1_Splice_Site	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin								binding	p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AACTCTTTATCTATAAAATTA	0.338000													12	8					9.31168e-06	1.07021e-05	0.001855	1	0
CCT8L2	150160	broad.mit.edu	37	22	17073111	17073111	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:17073111C>T	ENST00000359963.3	-	1	589	c.330G>A	c.(328-330)ctG>ctA	p.L110L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	110					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.L110L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTTCCGTCAGCAGAACCACGA	0.662000													12	48					0	0	0.001855	0	0
MYH2	4620	broad.mit.edu	37	17	10440587	10440587	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:10440587T>A	ENST00000245503.5	-	16	2244	c.1860A>T	c.(1858-1860)ctA>ctT	p.L620L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.L620L|MYH2_ENST00000532183.1_Silent_p.L620L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	620	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L620L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGAGCTGAGCTAGAGTTTTCA	0.433000													61	208					0	0	0.003610	0	0
BAALC	79870	broad.mit.edu	37	8	104225192	104225192	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:104225192C>A	ENST00000309982.5	+	2	394	c.206C>A	c.(205-207)aCa>aAa	p.T69K	RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000297574.6_Missense_Mutation_p.T104K|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron	NM_024812.2	NP_079088.1	Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	104						centrosome|membrane|nucleus		p.T69K(1)		kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CCCCGATCTACAGCCCCAGGT	0.572000													48	221					2.51966e-14	3.65736e-14	0.003610	1	0
MYO7B	4648	broad.mit.edu	37	2	128338352	128338352	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:128338352C>A	ENST00000389524.4	+	10	1088	c.1035C>A	c.(1033-1035)gaC>gaA	p.D345E	MYO7B_ENST00000428314.1_Missense_Mutation_p.D345E|MYO7B_ENST00000409816.2_Missense_Mutation_p.D345E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	345	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.D345E(2)|p.D345D(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACGCCTCAGACGTGATGGAGA	0.602000													10	15					1.58986e-06	1.86651e-06	0.008291	1	0
ACO2	50	broad.mit.edu	37	22	41923336	41923336	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:41923336C>A	ENST00000396512.3	+	16	2090	c.2073C>A	c.(2071-2073)ggC>ggA	p.G691G	POLR3H_ENST00000396504.2_3'UTR|POLR3H_ENST00000355209.4_3'UTR|ACO2_ENST00000216254.4_Silent_p.G666G			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	666					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	p.G666G(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						AGAACTACGGCGAGGGCTCGA	0.622000											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	56					0.00448238	0.00473357	0.004482	1	0
IQGAP2	10788	broad.mit.edu	37	5	75885525	75885525	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:75885525C>G	ENST00000274364.6	+	7	909	c.612C>G	c.(610-612)gcC>gcG	p.A204A	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	204					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.A204A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTATTCTGGCCAATGAACTGT	0.368000													3	15					0	0	0.004672	0	0
ZFP30	22835	broad.mit.edu	37	19	38126484	38126484	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:38126484G>A	ENST00000351218.2	-	6	1515	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.H320Y|ZFP30_ENST00000392144.1_Missense_Mutation_p.H320Y	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H320Y(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTATGAAGTTTGTGA	0.458000													15	92					0	0	0.006122	0	0
SCYL1	57410	broad.mit.edu	37	11	65303778	65303778	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:65303778G>C	ENST00000524944.1	+	12	1657	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	SCYL1_ENST00000533862.1_Missense_Mutation_p.E542Q|SCYL1_ENST00000525364.1_Missense_Mutation_p.E542Q|SCYL1_ENST00000420247.2_Missense_Mutation_p.E542Q|SCYL1_ENST00000527630.1_Missense_Mutation_p.E542Q|SCYL1_ENST00000270176.5_Missense_Mutation_p.E542Q|SCYL1_ENST00000279270.6_Missense_Mutation_p.E542Q|SCYL1_ENST00000527009.1_Missense_Mutation_p.E399Q			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	542					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	p.E542Q(1)		ovary(1)|skin(1)	2						GTCTGTGTCGGAGGACCCGAC	0.587000													8	79					0	0	0.004482	0	0
CCT6P1	643253	broad.mit.edu	37	7	65228337	65228337	+	RNA	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:65228337A>T	ENST00000442266.1	+	0	1311																											GAAAGGTTGAATTGAAGCTTC	0.423000													11	155					0	0	0.000978	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995725	143995725	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:143995725G>T	ENST00000323110.2	-	5	911	c.909C>A	c.(907-909)gcC>gcA	p.A303A		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	303					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.I304F(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGGCCTTGATGGCTTCTAGTG	0.582000									Familial Hyperaldosteronism type I				29	56					5.90632e-09	7.58591e-09	0.002445	1	0
COL28A1	340267	broad.mit.edu	37	7	7420475	7420475	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:7420475C>A	ENST00000399429.3	-	29	2364	c.2224G>T	c.(2224-2226)Ggc>Tgc	p.G742C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	742	Collagen-like 6.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.G742C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCACATCGCCCCGTTCTCCG	0.398000													37	263					4.14481e-20	6.46259e-20	0.006230	1	0
NUP210	23225	broad.mit.edu	37	3	13427867	13427867	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:13427867T>G	ENST00000254508.5	-	6	807	c.725A>C	c.(724-726)aAc>aCc	p.N242T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	242					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.N242T(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGAAGGATGTTTTCCAAAAT	0.498000													8	113					0	0	0.008291	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324424	52324424	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:52324424G>T	ENST00000354773.4	+	2	162	c.66G>T	c.(64-66)cgG>cgT	p.R22R	GLYCTK_ENST00000477382.1_Silent_p.R22R|GLYCTK_ENST00000473032.1_Silent_p.R22R|GLYCTK_ENST00000305690.8_Silent_p.R22R|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000436784.2_Silent_p.R22R|GLYCTK-AS1_ENST00000493616.1_RNA	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	22					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	p.R22R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TCCTCTGGCGGGGCTCAGTGG	0.687000													4	17					0.00198382	0.00211131	0.001984	1	0
CNBD1	168975	broad.mit.edu	37	8	88365868	88365868	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:88365868G>T	ENST00000518476.1	+	10	1208	c.1157G>T	c.(1156-1158)aGa>aTa	p.R386I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	386								p.R386I(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TAACAGAAAAGATCTCAAAAA	0.323000													9	69					0.000673444	0.000728066	0.008291	1	0
KIF2C	11004	broad.mit.edu	37	1	45232525	45232525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:45232525G>T	ENST00000372217.1	+	19	2188	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Nonsense_Mutation_p.E554*|KIF2C_ENST00000372218.4_Nonsense_Mutation_p.E626*|KIF2C_ENST00000372224.4_Nonsense_Mutation_p.E667*			Q99661	KIF2C_HUMAN	kinesin family member 2C	667					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	p.E667*(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGAGCTCTCTGAGATGACCGA	0.522000													20	25					3.5997e-14	5.21122e-14	0.002299	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863326	64863326	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:64863326C>G	ENST00000313349.3	-	2	977	c.680G>C	c.(679-681)gGg>gCg	p.G227A		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	227					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.G227A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TTCAAAATTCCCAGGCAGAGA	0.517000													18	113					0	0	0.007413	0	0
TRPM1	4308	broad.mit.edu	37	15	31324994	31324994	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:31324994C>A	ENST00000542188.1	-	21	3214	c.2901G>T	c.(2899-2901)cgG>cgT	p.R967R	TRPM1_ENST00000256552.6_Silent_p.R950R|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Silent_p.R928R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	928					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.R928R(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGTAGATCACCCGGCCATAGC	0.478000													37	76					9.39024e-22	1.50271e-21	0.009718	1	0
PTGS1	5742	broad.mit.edu	37	9	125141116	125141116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:125141116G>T	ENST00000362012.2	+	5	420	c.415G>T	c.(415-417)Gag>Tag	p.E139*	PTGS1_ENST00000540753.1_Nonsense_Mutation_p.E114*|PTGS1_ENST00000223423.4_Nonsense_Mutation_p.E139*|PTGS1_ENST00000373698.5_Nonsense_Mutation_p.E30*	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	139					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.E139*(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CATCAGCTGGGAGTCTTTCTC	0.517000													46	46					7.05377e-20	1.0967e-19	0.003610	1	0
HUWE1	10075	broad.mit.edu	37	X	53576030	53576030	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:53576030G>A	ENST00000342160.3	-	66	10382	c.9925C>T	c.(9925-9927)Cgt>Tgt	p.R3309C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3309C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3309					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.R3309C(1)|p.R3199C(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTATGTTTACGCCCCCCTGAA	0.527000													6	39					0	0	0.001168	0	0
FAM206A	54942	broad.mit.edu	37	9	111701527	111701527	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:111701527G>C	ENST00000322940.6	+	4	619	c.313G>C	c.(313-315)Gat>Cat	p.D105H	FAM206A_ENST00000374624.3_Intron	NM_017832.3	NP_060302.1	Q9NX38	CI006_HUMAN	family with sequence similarity 206, member A	105					glycine catabolic process	glycine cleavage complex		p.D105H(1)									TTACTGCTCAGATGGTGAAGA	0.378000													22	54					0	0	0.006320	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862956	10862956	+	RNA	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:10862956G>A	ENST00000559480.1	+	0	252																		p.Q84Q(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						AGAAGTTCCAGGCCAGAGTCA	0.532000													51	243					0	0	0.003610	0	0
CEP170P1	645455	broad.mit.edu	37	4	119444550	119444550	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:119444550G>T	ENST00000412784.2	+	0	123					NR_003135.2													p.E13D(1)									GGATTAAAGAGCAGGAAGACT	0.428000													4	5					0.00024832	0.000273052	0.009096	1	0
NPSR1	387129	broad.mit.edu	37	7	34867094	34867094	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:34867094A>G	ENST00000360581.1	+	5	688	c.560A>G	c.(559-561)aAg>aGg	p.K187R	NPSR1_ENST00000531252.1_Missense_Mutation_p.K176R|NPSR1_ENST00000381539.3_Missense_Mutation_p.K187R|NPSR1_ENST00000381542.1_Missense_Mutation_p.K121R|NPSR1_ENST00000359791.1_Missense_Mutation_p.K187R	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	187						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.K187R(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	ATATTTGGGAAGAGGACACTG	0.537000													10	169					0	0	0.008291	0	0
NPR1	4881	broad.mit.edu	37	1	153655054	153655054	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:153655054G>T	ENST00000368680.3	+	5	1724	c.1252G>T	c.(1252-1254)Ggt>Tgt	p.G418C		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	418					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	p.G418C(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TCCCGAGAATGGTGCCTTCAG	0.532000													4	55					1.23904e-05	1.4166e-05	0.000602	1	0
MRPS6	64968	broad.mit.edu	37	21	35514856	35514856	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:35514856C>T	ENST00000399312.2	+	3	512	c.334C>T	c.(334-336)Cca>Tca	p.P112S	MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	112					translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome	p.P112S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TGTCCCAGTCCCACTCGCAGA	0.423000													8	105					0	0	0.003080	0	0
OLFML3	56944	broad.mit.edu	37	1	114524191	114524191	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:114524191A>T	ENST00000369551.1	+	4	1249	c.961A>T	c.(961-963)Agt>Tgt	p.S321C	OLFML3_ENST00000393300.2_Missense_Mutation_p.S321C|OLFML3_ENST00000320334.4_Missense_Mutation_p.S341C|OLFML3_ENST00000491700.1_3'UTR			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	341	Olfactomedin-like.				multicellular organismal development	extracellular region		p.S341C(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGTCCTGCCAGTCGGGCCCG	0.592000													8	65					0	0	0.006214	0	0
ASAP1	50807	broad.mit.edu	37	8	131140239	131140239	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:131140239T>C	ENST00000357668.1	-	15	1342	c.1315A>G	c.(1315-1317)Aaa>Gaa	p.K439E	ASAP1_ENST00000518721.1_Missense_Mutation_p.K439E			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	439	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.K439E(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ATAATGGCTTTTGTCAGGTCT	0.483000													8	100					0	0	0.008291	0	0
CSPG4	1464	broad.mit.edu	37	15	75968734	75968734	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:75968734A>T	ENST00000308508.5	-	10	6218	c.6126T>A	c.(6124-6126)acT>acA	p.T2042T	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2042	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.T2042T(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGCCCTCACAGTGACGTTCA	0.617000													4	39					0	0	0.009096	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14799120	14799120	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:14799120C>A	ENST00000358984.4	+	21	2230	c.2050C>A	c.(2050-2052)Ctt>Att	p.L684I	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	735								p.L684I(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAATGATGGTCTTCTGAAGGT	0.279000													11	61					5.50884e-06	6.36486e-06	0.001368	1	0
USH2A	7399	broad.mit.edu	37	1	215960159	215960159	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:215960159C>T	ENST00000366943.2	-	52	10626	c.10240G>A	c.(10240-10242)Ggc>Agc	p.G3414S	USH2A_ENST00000307340.3_Missense_Mutation_p.G3414S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3414	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G3414S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCACACCTGCCACAATGTTCT	0.473000										HNSCC(13;0.011)			9	12					0	0	0.008291	0	0
LAYN	143903	broad.mit.edu	37	11	111420459	111420459	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:111420459G>A	ENST00000375614.2	+	3	836	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	LAYN_ENST00000533265.1_Missense_Mutation_p.R167Q|LAYN_ENST00000528924.1_Intron|LAYN_ENST00000525126.1_Missense_Mutation_p.R175Q|LAYN_ENST00000375615.3_Missense_Mutation_p.R175Q|LAYN_ENST00000436913.2_Intron	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	175	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	p.R167H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AATGATGACCGGTGCAACATG	0.507000													11	55					0	0	0.008291	0	0
FSIP2	401024	broad.mit.edu	37	2	186671509	186671509	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:186671509G>A	ENST00000343098.5	+	17	17743	c.17743G>A	c.(17743-17745)Gac>Aac	p.D5915N	FSIP2_ENST00000424728.1_Missense_Mutation_p.D5826N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.D524N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAACTCTATGACACTGCTAT	0.358000													9	53					0	0	0.006214	0	0
RADIL	55698	broad.mit.edu	37	7	4917651	4917651	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:4917651G>A	ENST00000399583.3	-	2	307	c.120C>T	c.(118-120)gaC>gaT	p.D40D	RADIL_ENST00000536091.1_Silent_p.D40D	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	40					cell adhesion|multicellular organismal development|signal transduction		protein binding	p.D40D(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGAAGGTGGAGTCCAGGTCCC	0.632000													9	30					0	0	0.008291	0	0
TFEB	7942	broad.mit.edu	37	6	41658482	41658482	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:41658482G>A	ENST00000394283.1	-	3	1613	c.387C>T	c.(385-387)caC>caT	p.H129H	TFEB_ENST00000403298.4_Silent_p.H129H|TFEB_ENST00000373033.1_Silent_p.H129H|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000358871.2_Silent_p.H143H|TFEB_ENST00000230323.4_Silent_p.H129H			P19484	TFEB_HUMAN	transcription factor EB	129				GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.H129H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGACAGCACGTGTCCAGCTC	0.637000			T	ALPHA	renal (childhood epithelioid)								15	50					0	0	0.004990	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045769	142045769	+	RNA	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:142045769C>A	ENST00000390392.3	+	0	408																											ACCTACACACCCTGCAGCCAG	0.512000													67	616					2.03366e-24	3.32753e-24	0.003610	1	0
GPATCH4	54865	broad.mit.edu	37	1	156565192	156565192	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:156565192C>T	ENST00000368232.4	-	8	1058	c.926G>A	c.(925-927)gGa>gAa	p.G309E	GPATCH4_ENST00000438976.2_Missense_Mutation_p.G314E	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	309						intracellular	nucleic acid binding	p.G309E(1)		autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTTTTCCTCCTTCCTCCAA	0.522000													42	472					0	0	0.003214	0	0
ITGAX	3687	broad.mit.edu	37	16	31374572	31374572	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:31374572G>T	ENST00000268296.4	+	14	1708	c.1587G>T	c.(1585-1587)ggG>ggT	p.G529G	ITGAX_ENST00000562522.1_Silent_p.G529G	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	529					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G529G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGTGCTGGGGGATGTGAATG	0.607000													69	241					7.14593e-30	1.20162e-29	0.003610	1	0
FAT1	2195	broad.mit.edu	37	4	187540161	187540161	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:187540161C>A	ENST00000441802.2	-	10	7788	c.7579G>T	c.(7579-7581)Gtt>Ttt	p.V2527F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2527	Cadherin 23.				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.V2530F(1)|p.V2527F(1)		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						TGGTAAGTAACGTGACCATAA	0.408000										HNSCC(5;0.00058)			21	125					3.62473e-10	4.77329e-10	0.001882	1	0
MSH4	4438	broad.mit.edu	37	1	76363740	76363740	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:76363740A>T	ENST00000263187.3	+	18	2608	c.2504A>T	c.(2503-2505)aAg>aTg	p.K835M		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	835					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.K835M(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAACTTTCTAAGGGACTCACA	0.303000								Mismatch excision repair (MMR)					11	96					0	0	0.000978	0	0
SPRY1	10252	broad.mit.edu	37	4	124322828	124322828	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:124322828G>A	ENST00000394339.2	+	2	422	c.82G>A	c.(82-84)Gac>Aac	p.D28N	SPRY1_ENST00000339241.1_Missense_Mutation_p.D28N	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	28					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		p.D28N(1)		NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						TCAGAGATTAGACTATGAGAG	0.468000													33	222					0	0	0.002096	0	0
RUFY1	80230	broad.mit.edu	37	5	179023586	179023586	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:179023586G>A	ENST00000319449.4	+	13	1547	c.1535G>A	c.(1534-1536)aGg>aAg	p.R512K	RUFY1_ENST00000393438.2_Missense_Mutation_p.R404K|RUFY1_ENST00000437570.2_Missense_Mutation_p.R404K|RUFY1_ENST00000377001.2_3'UTR|RP11-1379J22.2_ENST00000500262.1_RNA	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	512					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.R404K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCGGGCGAGGCAGGGGGCT	0.592000										HNSCC(44;0.11)			21	209					0	0	0.002299	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432860	104432860	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:104432860G>T	ENST00000361820.3	-	3	2434	c.1834C>A	c.(1834-1836)Cac>Aac	p.H612N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	612					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.H612N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCAGTCCAGTGCCCATTTTTC	0.468000													49	46					9.58827e-17	1.44352e-16	0.003610	1	0
ABCB11	8647	broad.mit.edu	37	2	169791861	169791861	+	Silent	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:169791861A>C	ENST00000263817.6	-	23	3013	c.2889T>G	c.(2887-2889)ctT>ctG	p.L963L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	963	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.L963L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GCTCAGTCTCAAGTGCTTCAA	0.438000													19	181					0	0	0.010504	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531559	84531559	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:84531559G>T	ENST00000527857.1	+	0	1581					NR_026851.1																						TTTGCACAGTGAGTCTCTGCA	0.443000													25	22					6.12954e-19	9.44934e-19	0.004656	1	0
OR14J1	442191	broad.mit.edu	37	6	29274975	29274975	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:29274975G>C	ENST00000377160.2	+	1	573	c.509G>C	c.(508-510)aGa>aCa	p.R170T		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R170T(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGTGGGAAGAGAGTCATTCAC	0.478000													3	166					0	0	0.004672	0	0
PCDHA1	56147	broad.mit.edu	37	5	140168129	140168129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140168129C>T	ENST00000504120.2	+	1	2254	c.2254C>T	c.(2254-2256)Cag>Tag	p.Q752*	PCDHA1_ENST00000378133.3_Nonsense_Mutation_p.Q752*|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1												p.Q752*(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCGAACTCACAGCAGAGGCG	0.642000													11	22					0	0	0.008291	0	0
SATB2	23314	broad.mit.edu	37	2	200245120	200245120	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:200245120C>A	ENST00000443023.1	-	4	1852	c.387G>T	c.(385-387)caG>caT	p.Q129H	SATB2_ENST00000260926.5_Missense_Mutation_p.Q188H|SATB2_ENST00000417098.1_Missense_Mutation_p.Q188H|SATB2_ENST00000457245.1_Missense_Mutation_p.Q188H|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000484124.1_5'UTR			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	188						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.Q188H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTAATGTGCTCTGGTTCATCT	0.498000													22	186					4.4004e-07	5.29696e-07	0.003330	1	0
MRI1	84245	broad.mit.edu	37	19	13883024	13883024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:13883024G>T	ENST00000319545.8	+	6	955	c.898G>T	c.(898-900)Gag>Tag	p.E300*	MRI1_ENST00000040663.6_Nonsense_Mutation_p.E347*|CTB-5E10.3_ENST00000586894.1_RNA	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	347					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	p.E347*(1)|p.E300*(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTTTGCCCCTGAGGAGCTCCG	0.582000													21	54					7.33628e-21	1.15708e-20	0.002299	1	0
MARCH11	441061	broad.mit.edu	37	5	16091000	16091000	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:16091000A>G	ENST00000332432.8	-	3	1083	c.884T>C	c.(883-885)aTa>aCa	p.I295T	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	295						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.I295T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GGTCTTACCTATGCACACTAG	0.433000													11	32					0	0	0.003163	0	0
GHR	2690	broad.mit.edu	37	5	42718755	42718755	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:42718755C>A	ENST00000230882.4	+	10	1336	c.1146C>A	c.(1144-1146)ggC>ggA	p.G382G	GHR_ENST00000357703.3_Silent_p.G360G|GHR_ENST00000537449.1_Silent_p.G195G|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	382					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.G382G(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGAAGGATGGCGACTCTGGAC	0.463000													18	154					6.49762e-13	9.15193e-13	0.006122	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43926908	43926908	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:43926908A>T	ENST00000282406.4	+	8	921	c.811A>T	c.(811-813)Aca>Tca	p.T271S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	271						cytoplasm|cytoskeleton|integral to membrane	binding	p.T271S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGCTTTGCCACAGATGGTGG	0.483000													11	91					0	0	0.008291	0	0
COL4A1	1282	broad.mit.edu	37	13	110831280	110831280	+	Silent	SNP	C	C	A	rs144401828	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:110831280C>A	ENST00000375820.4	-	31	2569	c.2448G>T	c.(2446-2448)ccG>ccT	p.P816P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	816	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.P816P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGACAACCCCGGTGGTCCCT	0.582000													5	15					2.7689e-08	3.49873e-08	0.001984	1	0
VWF	7450	broad.mit.edu	37	12	6167018	6167018	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:6167018T>G	ENST00000261405.5	-	14	1980	c.1726A>C	c.(1726-1728)Atg>Ctg	p.M576L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	576	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.M576L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACATACTCATGCGCGGGTTG	0.662000													43	285					0	0	0.003610	0	0
E2F5	1875	broad.mit.edu	37	8	86124414	86124414	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:86124414C>T	ENST00000418930.2	+	7	1099	c.903C>T	c.(901-903)atC>atT	p.I301I	E2F5_ENST00000256117.5_Silent_p.I303I|E2F5_ENST00000416274.2_Silent_p.I302I|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Silent_p.I129I|E2F5_ENST00000517476.1_Silent_p.I141I			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	302	Transactivation (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.I302I(1)		NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTGGAGATATCATTGATGAGT	0.299000													6	54					0	0	0.001168	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264336	61264336	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:61264336G>T	ENST00000344731.5	+	8	1017	c.915G>T	c.(913-915)atG>atT	p.M305I	SERPINB13_ENST00000269489.5_Missense_Mutation_p.M253I	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	305					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.M305I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCATGGGGATGGGCGATGCCT	0.562000													17	108					5.3912e-06	6.26205e-06	0.006122	1	0
TFCP2	7024	broad.mit.edu	37	12	51500371	51500371	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:51500371T>A	ENST00000307660.4	-	7	1421	c.701A>T	c.(700-702)tAt>tTt	p.Y234F	TFCP2_ENST00000257915.5_Missense_Mutation_p.Y285F|TFCP2_ENST00000549867.1_Missense_Mutation_p.Y285F|TFCP2_ENST00000548115.1_Missense_Mutation_p.Y234F	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	285	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Y285F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GTTATTGACATACGTGATCTC	0.403000													11	38					0	0	0.001368	0	0
MMP2	4313	broad.mit.edu	37	16	55536706	55536706	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:55536706G>T	ENST00000219070.4	+	12	2294	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	MMP2_ENST00000543485.1_Missense_Mutation_p.K519N|MMP2_ENST00000437642.2_Missense_Mutation_p.K545N|MMP2_ENST00000570308.1_Missense_Mutation_p.K519N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	595	Hemopexin-like 3.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.K595N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ATGAGGTGAAGAAGAAAATGG	0.567000													8	65					3.09899e-07	3.76355e-07	0.004482	1	0
FAP	2191	broad.mit.edu	37	2	163070536	163070536	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:163070536C>A	ENST00000188790.4	-	11	1121	c.914G>T	c.(913-915)tGt>tTt	p.C305F	FAP_ENST00000443424.1_Missense_Mutation_p.C280F	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	305					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.C305F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACTGCAAACATACTCGTTC	0.408000													50	152					2.0833e-19	3.22072e-19	0.003610	1	0
RYR2	6262	broad.mit.edu	37	1	237947550	237947550	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:237947550G>T	ENST00000366574.2	+	90	12855	c.12538G>T	c.(12538-12540)Ggc>Tgc	p.G4180C	RYR2_ENST00000360064.6_Missense_Mutation_p.G4186C|RYR2_ENST00000542537.1_Missense_Mutation_p.G4164C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4180					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G4178C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTCAACGAAGGCGGAGAGAA	0.502000													20	136					5.35267e-07	6.42202e-07	0.007413	1	0
FSCB	84075	broad.mit.edu	37	14	44975130	44975130	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:44975130G>A	ENST00000340446.4	-	1	1352	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	354	Pro-rich.					cilium		p.S354L(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTCTTCAGCTGATGGAGGCAG	0.507000													11	122					0	0	0.001368	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625488	43625488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:43625488C>A	ENST00000332857.6	-	4	3227	c.3199G>T	c.(3199-3201)Gag>Tag	p.E1067*		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.E1067*(1)									TCATGTAGCTCCTGGGAAGCC	0.547000													94	84					5.38336e-66	9.45983e-66	0.003610	1	0
TANGO2	128989	broad.mit.edu	37	22	20040998	20040998	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:20040998A>T	ENST00000327374.4	+	5	482	c.304A>T	c.(304-306)Agc>Tgc	p.S102C	TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000456048.1_Missense_Mutation_p.S107C|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000401833.1_Missense_Mutation_p.S143C|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000420290.2_Intron|TANGO2_ENST00000434570.2_Missense_Mutation_p.S143C|TANGO2_ENST00000447208.2_Missense_Mutation_p.S102C	NM_152906.4	NP_690870.3			transport and golgi organization 2 homolog (Drosophila)									p.S102C(1)									TGACGTGGACAGCTTGTCCTA	0.562000													7	77					0	0	0.003080	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420104	105420104	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:105420104T>C	ENST00000333244.5	-	7	1803	c.1684A>G	c.(1684-1686)Agg>Ggg	p.R562G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	562						nucleus		p.R562G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCTTGTCCTCTGTAGTCCT	0.557000													38	420					0	0	0.005524	0	0
DHX16	8449	broad.mit.edu	37	6	30630700	30630700	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:30630700C>T	ENST00000376442.3	-	8	1611	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	472	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	p.K472K(1)		kidney(2)|ovary(2)	4						CATTCCCAAGCTTCACACCCA	0.567000													7	85					0	0	0.004482	0	0
ABHD2	11057	broad.mit.edu	37	15	89736526	89736526	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:89736526C>G	ENST00000352732.5	+	10	1577	c.1057C>G	c.(1057-1059)Cta>Gta	p.L353V	ABHD2_ENST00000355100.3_Missense_Mutation_p.L353V|ABHD2_ENST00000565973.1_Missense_Mutation_p.L353V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	353						integral to membrane	carboxylesterase activity	p.L353V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGAAAGTCTTCTAACCATTCC	0.428000													15	63					0	0	0.008871	0	0
LAMA2	3908	broad.mit.edu	37	6	129777622	129777622	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:129777622C>A	ENST00000421865.2	+	48	6899	c.6850C>A	c.(6850-6852)Ctg>Atg	p.L2284M		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2284	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2284M(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTTGGTGGCCTGACTGGGAA	0.443000													36	368					5.71845e-15	8.34482e-15	0.005524	1	0
PLCE1	51196	broad.mit.edu	37	10	95791988	95791988	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:95791988G>T	ENST00000260766.3	+	2	1819	c.1185G>T	c.(1183-1185)ctG>ctT	p.L395L	PLCE1_ENST00000371380.2_Silent_p.L395L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	395					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.L395L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCCAACGTCTGTCAGAAGCCC	0.403000													18	46					2.52088e-20	3.94745e-20	0.002780	1	0
IFI44	10561	broad.mit.edu	37	1	79120848	79120848	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:79120848C>G	ENST00000370747.4	+	4	729	c.644C>G	c.(643-645)aCg>aGg	p.T215R	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	215					response to virus	cytoplasm		p.T215R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GGGCATGTAACGCATCAGGCT	0.453000													25	67					0	0	0.008361	0	0
ITSN2	50618	broad.mit.edu	37	2	24533500	24533500	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:24533500T>A	ENST00000355123.4	-	6	857	c.414A>T	c.(412-414)acA>acT	p.T138T	ITSN2_ENST00000361999.3_Silent_p.T138T|ITSN2_ENST00000406921.3_Silent_p.T138T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	138					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.T137T(1)|p.T138T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGACAATGATGTTATAGGTG	0.458000													9	65					0	0	0.008291	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	53					0	0	0.001168	0	0
DDX18	8886	broad.mit.edu	37	2	118577319	118577319	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:118577319T>C	ENST00000263239.2	+	3	593	c.465T>C	c.(463-465)gaT>gaC	p.D155D	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	155							ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.D155D(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAAGCCAGATAATGATGAAG	0.413000											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	59					0	0	0.003080	0	0
CPS1	1373	broad.mit.edu	37	2	211476856	211476856	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:211476856C>A	ENST00000233072.5	+	20	2603	c.2407C>A	c.(2407-2409)Cgt>Agt	p.R803S	CPS1_ENST00000451903.2_Missense_Mutation_p.R352S|CPS1_ENST00000430249.2_Missense_Mutation_p.R809S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	803					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.R803S(1)|p.R809S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGCTATTGGTCGTACCTTTGA	0.383000													33	229					8.73648e-17	1.3171e-16	0.004289	1	0
DPP6	1804	broad.mit.edu	37	7	154379709	154379709	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:154379709G>T	ENST00000406326.1	+	6	1380	c.977G>T	c.(976-978)gGc>gTc	p.G326V	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.G326V(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TACGAGTGTGGCAGGTGTGAG	0.607000													18	146					1.2644e-06	1.49728e-06	0.010504	1	0
PCDHB15	56121	broad.mit.edu	37	5	140625580	140625580	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140625580C>G	ENST00000231173.3	+	1	434	c.434C>G	c.(433-435)aCt>aGt	p.T145S		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		145	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T145S(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCCCAGAAACTAGCTCCCTT	0.413000													24	115					0	0	0.007291	0	0
CD33	945	broad.mit.edu	37	19	51729250	51729250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:51729250C>T	ENST00000436584.2	+	2	284	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	CD33_ENST00000421133.2_Nonsense_Mutation_p.Q77*|CD33_ENST00000391796.3_Nonsense_Mutation_p.Q204*|CD33_ENST00000262262.4_Nonsense_Mutation_p.Q204*			P20138	CD33_HUMAN	CD33 molecule	204	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.Q204*(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCCACGGCCCCAGGACCACGG	0.617000													17	54					0	0	0.010504	0	0
SLC14A1	6563	broad.mit.edu	37	18	43314340	43314340	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:43314340T>C	ENST00000321925.4	+	5	675	c.443T>C	c.(442-444)cTc>cCc	p.L148P	SLC14A1_ENST00000586142.1_Missense_Mutation_p.L148P|SLC14A1_ENST00000535474.1_Missense_Mutation_p.L16P|SLC14A1_ENST00000415427.3_Missense_Mutation_p.L204P|SLC14A1_ENST00000402943.2_Missense_Mutation_p.L43P|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000436407.3_Missense_Mutation_p.L204P|SLC14A1_ENST00000589700.1_Missense_Mutation_p.L148P|SLC14A1_ENST00000502059.2_Missense_Mutation_p.L40P|RP11-116O18.3_ENST00000589510.1_RNA|RP11-116O18.3_ENST00000586213.1_RNA	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	148						integral to plasma membrane	urea transmembrane transporter activity	p.L148P(1)|p.L204P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TGGCTGTTACTCCCTGTATGT	0.433000													27	67					0	0	0.007291	0	0
POTEC	388468	broad.mit.edu	37	18	14537826	14537826	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:14537826C>A	ENST00000358970.5	-	3	783	c.784G>T	c.(784-786)Ggt>Tgt	p.G262C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	262								p.G262C(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATATCAGCACCATATAAGAGC	0.363000													9	40					7.48243e-07	8.92827e-07	0.006214	1	0
CYLC2	1539	broad.mit.edu	37	9	105765459	105765459	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:105765459C>T	ENST00000374798.3	+	3	164	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	CYLC2_ENST00000487798.1_Missense_Mutation_p.H32Y	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	32	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.H32Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GAATCAGCAACACTTTGCCCT	0.393000													24	109					0	0	0.006320	0	0
PAK7	57144	broad.mit.edu	37	20	9546647	9546647	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:9546647A>T	ENST00000378429.3	-	6	1921	c.1375T>A	c.(1375-1377)Tca>Aca	p.S459T	PAK7_ENST00000353224.5_Missense_Mutation_p.S459T|PAK7_ENST00000378423.1_Missense_Mutation_p.S459T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	459	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S459T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATGCCGGTTGAGCCTTCCCCG	0.542000													94	198					0	0	0.003610	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	4					0	0	0.004672	0	0
MED13L	23389	broad.mit.edu	37	12	116420924	116420924	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:116420924C>A	ENST00000281928.3	-	21	5159	c.4953G>T	c.(4951-4953)gaG>gaT	p.E1651D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1651					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.E1651D(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TAACATACCTCTCTTGTCCAT	0.498000													63	48					1.31726e-23	2.13933e-23	0.003610	1	0
WDR60	55112	broad.mit.edu	37	7	158716323	158716323	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:158716323G>T	ENST00000407559.3	+	17	2314	c.2156G>T	c.(2155-2157)gGc>gTc	p.G719V		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	719								p.G719L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACAGCGCACGGCTCAGTTGTC	0.507000													74	162					2.93416e-43	5.09862e-43	0.003610	1	0
SORCS3	22986	broad.mit.edu	37	10	106970934	106970934	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:106970934C>T	ENST00000369701.3	+	17	2528	c.2301C>T	c.(2299-2301)gtC>gtT	p.V767V	SORCS3_ENST00000369699.4_Silent_p.V53V	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	767						integral to membrane	neuropeptide receptor activity	p.V767V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCAGTGTGTCCCAGCTTTCT	0.448000													6	37					0	0	0.001984	0	0
ATG4B	23192	broad.mit.edu	37	2	242607954	242607954	+	Splice_Site	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:242607954G>C	ENST00000405546.3	+	10	1313		c.e10-1		ATG4B_ENST00000404914.3_Splice_Site|ATG4B_ENST00000402096.1_Splice_Site|ATG4B_ENST00000396411.3_Splice_Site|ATG4B_ENST00000474739.2_Splice_Site			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase						autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		CATCCTCCCAGGTGAGGAGCT	0.647000													9	7					0	0	0.004482	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045770	142045770	+	RNA	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:142045770C>A	ENST00000390392.3	+	0	409																											CCTACACACCCTGCAGCCAGA	0.517000													68	613					3.39796e-24	5.54324e-24	0.003610	1	0
KCNV1	27012	broad.mit.edu	37	8	110984554	110984554	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:110984554C>A	ENST00000524391.1	-	3	1956	c.924G>T	c.(922-924)ggG>ggT	p.G308G	KCNV1_ENST00000297404.1_Silent_p.G308G			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	308						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.G308G(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGACAATGCGCCCCACGTTCT	0.522000													52	44					5.39261e-20	8.39619e-20	0.003610	1	0
RYR2	6262	broad.mit.edu	37	1	237947412	237947412	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:237947412G>T	ENST00000366574.2	+	90	12717	c.12400G>T	c.(12400-12402)Ggc>Tgc	p.G4134C	RYR2_ENST00000360064.6_Missense_Mutation_p.G4140C|RYR2_ENST00000542537.1_Missense_Mutation_p.G4118C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4134					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G4132C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCCTTTCTGGGCCGCATCGA	0.517000													30	86					1.55811e-20	2.44335e-20	0.008361	1	0
MMP9	4318	broad.mit.edu	37	20	44637694	44637694	+	Missense_Mutation	SNP	G	G	C	rs142807270		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:44637694G>C	ENST00000372330.3	+	1	148	c.129G>C	c.(127-129)caG>caC	p.Q43H		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	43					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.Q43H(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCGACAGGCAGCTGGCAGAGG	0.607000													7	24					0	0	0.003080	0	0
FSTL5	56884	broad.mit.edu	37	4	162459330	162459330	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:162459330C>A	ENST00000306100.5	-	10	1736	c.1300G>T	c.(1300-1302)Gct>Tct	p.A434S	FSTL5_ENST00000379164.4_Missense_Mutation_p.A433S|FSTL5_ENST00000536695.1_Missense_Mutation_p.A433S|FSTL5_ENST00000427802.2_Missense_Mutation_p.A433S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	434						extracellular region	calcium ion binding	p.A434S(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTCTTTCTAGCAGAGTCTTCC	0.398000													29	222					2.42023e-17	3.66387e-17	0.003271	1	0
SHOC2	8036	broad.mit.edu	37	10	112764372	112764372	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:112764372A>G	ENST00000369452.4	+	5	1326	c.981A>G	c.(979-981)ttA>ttG	p.L327L	SHOC2_ENST00000265277.5_Silent_p.L281L|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	327					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	p.L327L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AGAGTCTTTTATCAAGTCTTG	0.363000													15	62					0	0	0.003163	0	0
KIAA0754	643314	broad.mit.edu	37	1	39880114	39880114	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:39880114C>A	ENST00000530275.1	+	1	3964	c.3769C>A	c.(3769-3771)Cct>Act	p.P1257T	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1257										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGGAAAGTGCCTCTGGCTGC	0.473000													9	36					0.000274275	0.000300083	0.004482	1	0
GABRA2	2555	broad.mit.edu	37	4	46314713	46314713	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:46314713G>T	ENST00000510861.1	-	5	449	c.276C>A	c.(274-276)ttC>ttA	p.F92L	GABRA2_ENST00000381620.4_Missense_Mutation_p.F92L|GABRA2_ENST00000356504.1_Missense_Mutation_p.F92L|GABRA2_ENST00000515082.1_Missense_Mutation_p.F92L|GABRA2_ENST00000514090.1_Missense_Mutation_p.F92L|GABRA2_ENST00000540012.1_Missense_Mutation_p.F37L|GABRA2_ENST00000507069.1_Missense_Mutation_p.F92L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	92					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.F92L(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTGTCGAAAGAAAACATCAA	0.274000													7	26					5.18039e-06	6.03e-06	0.003080	1	0
PDE1C	5137	broad.mit.edu	37	7	31867988	31867988	+	Splice_Site	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:31867988C>G	ENST00000396184.3	-	13	1408		c.e13-1		PDE1C_ENST00000396191.1_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.?(3)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCTGTCACCCTGGAAAAATA	0.478000													8	68					0	0	0.004482	0	0
UBE4B	10277	broad.mit.edu	37	1	10211596	10211596	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:10211596C>T	ENST00000377157.3	+	20	3229	c.2168C>T	c.(2167-2169)cCt>cTt	p.P723L	UBE4B_ENST00000343090.6_Missense_Mutation_p.P968L|UBE4B_ENST00000253251.8_Missense_Mutation_p.P839L	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	968					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.P968L(1)|p.P839L(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTGTTGGTACCTTCCCTGATG	0.458000													35	131					0	0	0.004289	0	0
OS9	10956	broad.mit.edu	37	12	58089584	58089584	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:58089584G>A	ENST00000315970.7	+	3	402	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	OS9_ENST00000413095.2_Missense_Mutation_p.E121K|OS9_ENST00000552285.1_Missense_Mutation_p.E121K|OS9_ENST00000439210.2_Missense_Mutation_p.E62K|OS9_ENST00000435406.2_Missense_Mutation_p.E121K|OS9_ENST00000389142.5_Missense_Mutation_p.E121K|OS9_ENST00000551035.1_Missense_Mutation_p.E121K|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.E121K|OS9_ENST00000257966.8_Missense_Mutation_p.E121K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	121	PRKCSH.				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	p.E121K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGGACATATGAATTCTGTTA	0.433000													37	134					0	0	0.009718	0	0
RNASE12	493901	broad.mit.edu	37	14	21058517	21058517	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:21058517G>C	ENST00000556526.1	-	1	465	c.366C>G	c.(364-366)caC>caG	p.H122Q	RNASE11_ENST00000335950.4_5'UTR|AL163195.3_ENST00000555283.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	122						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.H122Q(1)		kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		TGGGGGAATAGTGGTACCTGC	0.453000													8	104					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179641551	179641551	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179641551G>T	ENST00000589042.1	-	28	5264	c.5040C>A	c.(5038-5040)ctC>ctA	p.L1680L	TTN_ENST00000342992.6_Silent_p.L1680L|TTN_ENST00000342175.6_Silent_p.L1634L|TTN_ENST00000591111.1_Silent_p.L1680L|TTN_ENST00000460472.2_Silent_p.L1634L|TTN_ENST00000360870.5_Silent_p.L1680L|TTN_ENST00000359218.5_Silent_p.L1634L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1435							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H1681N(3)|p.H1635N(3)		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)			ATCGCAAATGGAGGGGCTCCA	0.448000													9	191					3.09899e-07	3.76355e-07	0.004482	1	0
PDE2A	5138	broad.mit.edu	37	11	72291955	72291955	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:72291955G>C	ENST00000334456.5	-	24	2353	c.2108C>G	c.(2107-2109)aCa>aGa	p.T703R	PDE2A_ENST00000444035.2_Missense_Mutation_p.T694R|PDE2A_ENST00000418754.2_Missense_Mutation_p.T588R|PDE2A_ENST00000376450.3_Missense_Mutation_p.T447R|PDE2A_ENST00000540345.1_Missense_Mutation_p.T694R|PDE2A_ENST00000544570.1_Missense_Mutation_p.T696R	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	703	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T703R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGAGTTGTTTGTGCCTCTGTG	0.532000													11	56					0	0	0.008291	0	0
BSN	8927	broad.mit.edu	37	3	49694957	49694957	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:49694957C>T	ENST00000296452.4	+	5	8082	c.7968C>T	c.(7966-7968)gcC>gcT	p.A2656A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2656					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.A2656A(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTGCTGCTGCCACTGTGAGGG	0.637000													10	26					0	0	0.001368	0	0
CNTD1	124817	broad.mit.edu	37	17	40959840	40959840	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:40959840T>A	ENST00000588408.1	+	6	1056	c.780T>A	c.(778-780)atT>atA	p.I260I	CNTD1_ENST00000588527.1_Silent_p.I177I|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	260								p.I260I(1)		central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TAGGAATCATTGCAGCAAGTG	0.408000													22	97					0	0	0.003954	0	0
SEPT1	1731	broad.mit.edu	37	16	30392730	30392730	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:30392730G>C	ENST00000321367.3	-	6	556	c.511C>G	c.(511-513)Ctg>Gtg	p.L171V	SEPT1_ENST00000605106.1_Missense_Mutation_p.L129V|SEPT1_ENST00000571393.1_Missense_Mutation_p.L124V	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	124					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	p.L124V(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TTCCGGTTCAGGCCACTCTCA	0.592000													29	169					0	0	0.006320	0	0
PARP1	142	broad.mit.edu	37	1	226576435	226576435	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:226576435C>T	ENST00000366794.5	-	5	782	c.639G>A	c.(637-639)gtG>gtA	p.V213V		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	213					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.V213V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCACTCCATCCACCTCATCGC	0.438000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					15	282					0	0	0.004990	0	0
MGAM	8972	broad.mit.edu	37	7	141805626	141805626	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:141805626G>C	ENST00000475668.2	+	71	8251	c.8197G>C	c.(8197-8199)Gat>Cat	p.D2733H	MGAM_ENST00000549489.2_Missense_Mutation_p.D1837H			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1837					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.D1837H(2)|p.D2734H(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTAAGCATCGATGTGACTGA	0.373000													18	157					0	0	0.001882	0	0
AOAH	313	broad.mit.edu	37	7	36571916	36571916	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:36571916C>G	ENST00000431169.1	-	17	1641	c.1341G>C	c.(1339-1341)ttG>ttC	p.L447F	AOAH_ENST00000538464.1_Missense_Mutation_p.L169F|AOAH_ENST00000258749.5_Missense_Mutation_p.L447F|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000535891.1_Missense_Mutation_p.L415F	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	447					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.L447F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGAAGGAGTACAACTGCGCAT	0.507000													33	208					0	0	0.005524	0	0
OTOP2	92736	broad.mit.edu	37	17	72920736	72920736	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:72920736G>C	ENST00000331427.4	+	2	101	c.9G>C	c.(7-9)gaG>gaC	p.E3D	OTOP2_ENST00000580223.1_Missense_Mutation_p.E3D	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	3						integral to membrane		p.E3D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCATGTCCGAGGAGCTGGCCC	0.692000													3	17					0	0	0.004672	0	0
C3orf35	339883	broad.mit.edu	37	3	37458897	37458897	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:37458897G>T	ENST00000328376.5	+	5	1119	c.140G>T	c.(139-141)aGa>aTa	p.R47I	C3orf35_ENST00000425932.1_Missense_Mutation_p.R47I|C3orf35_ENST00000425564.2_Missense_Mutation_p.R47I|C3orf35_ENST00000426078.1_Missense_Mutation_p.R47I|C3orf35_ENST00000452017.2_Missense_Mutation_p.R47I|C3orf35_ENST00000481400.1_Intron	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	47						integral to membrane		p.R47I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						ATAATAAACAGAGGAAGGCGG	0.468000													28	121					9.65021e-13	1.35749e-12	0.002096	1	0
C11orf87	399947	broad.mit.edu	37	11	109294562	109294562	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:109294562T>C	ENST00000327419.6	+	2	606	c.203T>C	c.(202-204)gTt>gCt	p.V68A	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	68						integral to membrane		p.V68A(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						ATTGTCCTGGTTACCCTCATC	0.592000													8	58					0	0	0.004482	0	0
CNTN5	53942	broad.mit.edu	37	11	100141943	100141943	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:100141943C>G	ENST00000524871.1	+	18	2574	c.2284C>G	c.(2284-2286)Cca>Gca	p.P762A	CNTN5_ENST00000527185.1_Missense_Mutation_p.P762A|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.P688A|CNTN5_ENST00000279463.3_Missense_Mutation_p.P762A|CNTN5_ENST00000528682.1_Missense_Mutation_p.P762A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	762	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.P762A(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCCAAGCACCCCATCTCGAAT	0.458000													10	26					0	0	0.008291	0	0
ZNF611	81856	broad.mit.edu	37	19	53208717	53208717	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:53208717C>G	ENST00000543227.1	-	6	1865	c.1591G>C	c.(1591-1593)Ggt>Cgt	p.G531R	ZNF611_ENST00000595798.1_Missense_Mutation_p.G462R|ZNF611_ENST00000540744.1_Missense_Mutation_p.G531R|ZNF611_ENST00000602162.1_Missense_Mutation_p.G462R|ZNF611_ENST00000319783.1_Missense_Mutation_p.G531R|ZNF611_ENST00000453741.2_Missense_Mutation_p.G462R	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G531R(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CCAGTATGACCTATCTTATGT	0.368000													108	123					0	0	0.003610	0	0
ADCY8	114	broad.mit.edu	37	8	131792968	131792968	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:131792968C>A	ENST00000286355.5	-	18	5516	c.3424G>T	c.(3424-3426)Gac>Tac	p.D1142Y	ADCY8_ENST00000377928.3_Missense_Mutation_p.D1011Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1142					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.D1142Y(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGCCCTGGTCCTTCAGGATG	0.502000										HNSCC(32;0.087)			16	245					3.45872e-05	3.92563e-05	0.004007	1	0
BVES	11149	broad.mit.edu	37	6	105581378	105581378	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:105581378T>A	ENST00000314641.5	-	2	291	c.75A>T	c.(73-75)atA>atT	p.I25I	BVES_ENST00000336775.5_Silent_p.I25I|BVES_ENST00000446408.2_Silent_p.I25I	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	25					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.I25I(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AAGGCACAGGTATGATACTTT	0.363000													17	119					0	0	0.004007	0	0
PRDM9	56979	broad.mit.edu	37	5	23527537	23527537	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:23527537G>T	ENST00000296682.3	+	11	2522	c.2340G>T	c.(2338-2340)gaG>gaT	p.E780D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	780					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E780D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCTGCAGGGAGTGTGGGCGGG	0.582000										HNSCC(3;0.000094)			81	142					1.14225e-51	1.99437e-51	0.003610	1	0
MRPS30	10884	broad.mit.edu	37	5	44815242	44815242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:44815242C>T	ENST00000507110.1	+	5	1296	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	420					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	p.Q420*(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGTTCTACTTCAGATAGTTCA	0.318000													4	34					0	0	0.000602	0	0
GZF1	64412	broad.mit.edu	37	20	23350848	23350848	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:23350848G>C	ENST00000338121.5	+	6	1983	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	GZF1_ENST00000542987.1_Missense_Mutation_p.D145H|GZF1_ENST00000544236.1_Missense_Mutation_p.D160H|GZF1_ENST00000377051.2_Missense_Mutation_p.D636H			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	636					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	p.D636H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAAGCTTTCGGATAAATTGCT	0.478000													10	76					0	0	0.006214	0	0
GIPC3	126326	broad.mit.edu	37	19	3586949	3586949	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:3586949C>A	ENST00000322315.5	+	3	594	c.549C>A	c.(547-549)tcC>tcA	p.S183S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	183	PDZ.							p.Q184E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCAAGTCCCAGCCCTTCA	0.657000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	31					0.004672	0.00491955	0.004672	1	0
NOL6	65083	broad.mit.edu	37	9	33468330	33468330	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:33468330T>A	ENST00000379471.2	-	10	1384	c.1297A>T	c.(1297-1299)Act>Tct	p.T433S	NOL6_ENST00000455041.2_Missense_Mutation_p.T373S|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	433					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.T433S(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGGTGGTAAGTAGAGGCAGTG	0.567000													7	51					0	0	0.001984	0	0
BBS9	27241	broad.mit.edu	37	7	33384214	33384214	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:33384214G>A	ENST00000242067.6	+	12	1818	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R	BBS9_ENST00000355070.2_Missense_Mutation_p.G433R|BBS9_ENST00000350941.3_Missense_Mutation_p.G433R|BBS9_ENST00000354265.4_Missense_Mutation_p.G433R|BBS9_ENST00000396127.2_Missense_Mutation_p.G433R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	433					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.G433R(2)|p.G433*(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGTTGAGGTGGGAACTGACCT	0.398000									Bardet-Biedl syndrome				70	214					0	0	0.003610	0	0
MC2R	4158	broad.mit.edu	37	18	13885377	13885377	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:13885377C>T	ENST00000327606.3	-	2	321	c.141G>A	c.(139-141)ctG>ctA	p.L47L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	47					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.L47L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGAACACAGCCAGCAGGACGA	0.428000													17	57					0	0	0.007413	0	0
PLCB1	23236	broad.mit.edu	37	20	8630054	8630054	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:8630054A>T	ENST00000378641.3	+	7	1027	c.552A>T	c.(550-552)cgA>cgT	p.R184R	PLCB1_ENST00000378637.2_Silent_p.R184R|PLCB1_ENST00000338037.6_Silent_p.R184R	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	184					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.R184R(4)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATCGGAAGCGAGTTGAAACTG	0.423000													6	68					0	0	0.003080	0	0
KIF19	124602	broad.mit.edu	37	17	72348399	72348399	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:72348399G>T	ENST00000389916.4	+	14	2038	c.1900G>T	c.(1900-1902)Gaa>Taa	p.E634*		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	634					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E634*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGCTCTACGAAGTGTACCT	0.701000													19	22					1.01871e-10	1.35787e-10	0.008871	1	0
UBQLN3	50613	broad.mit.edu	37	11	5530285	5530285	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:5530285C>A	ENST00000311659.4	-	2	651	c.504G>T	c.(502-504)gtG>gtT	p.V168V	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	168								p.V168V(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGCTGAGTCACAAACTCAG	0.582000													21	47					3.8784e-16	5.75183e-16	0.001882	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51628974	51628974	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:51628974T>C	ENST00000440804.3	+	2	609	c.542T>C	c.(541-543)aTa>aCa	p.I181T	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.I181T	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	181	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.I181T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATCTCCTGGATAGGGACCTCC	0.662000													82	65					0	0	0.003610	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183440	167183440	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:167183440G>A	ENST00000476257.1	-	5	798	c.500C>T	c.(499-501)tCa>tTa	p.S167L	SERPINI2_ENST00000471111.1_Missense_Mutation_p.S167L|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S167L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S167L			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	167					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.S167L(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TTCTTCCCCTGAAAACATGTC	0.403000													4	52					0	0	0.001984	0	0
PDK3	5165	broad.mit.edu	37	X	24512948	24512948	+	Missense_Mutation	SNP	C	C	T	rs112864206		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:24512948C>T	ENST00000441463.2	+	2	196	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F	PDK3_ENST00000379162.4_Missense_Mutation_p.L66F|PDK3_ENST00000493226.1_3'UTR	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	66					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.L66F(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAAGTTAATCTTCTGCCGGA	0.403000													3	50					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179455772	179455772	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179455772C>A	ENST00000589042.1	-	304	60904	c.60680G>T	c.(60679-60681)aGt>aTt	p.S20227I	TTN_ENST00000342992.6_Missense_Mutation_p.S17659I|TTN_ENST00000342175.6_Missense_Mutation_p.S11354I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S18586I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S11162I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S11287I|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18586	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S11287I(1)|p.S17657I(1)|p.S11354I(1)|p.S11162I(1)|p.S17659I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGTCTTACTGCTTCCGGA	0.453000													21	327					1.28384e-07	1.58022e-07	0.001882	1	0
CCDC28A	25901	broad.mit.edu	37	6	139100986	139100986	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:139100986G>T	ENST00000332797.6	+	3	611	c.456G>T	c.(454-456)caG>caT	p.Q152H		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	152								p.Q152H(1)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CCAAACCTCAGGGTGGAGAGG	0.433000													20	74					1.50039e-11	2.04991e-11	0.001882	1	0
PSG3	5671	broad.mit.edu	37	19	43233356	43233356	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:43233356G>A	ENST00000327495.5	-	5	1346	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	PSG3_ENST00000595140.1_Missense_Mutation_p.H388Y	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	388	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.H388Y(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGCCCGCTATGCTTTGTAGTA	0.468000													149	178					0	0	0.003610	0	0
FRY	10129	broad.mit.edu	37	13	32836597	32836597	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:32836597T>A	ENST00000380250.3	+	53	8260	c.7764T>A	c.(7762-7764)atT>atA	p.I2588I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.I2588I(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCTGCAGATTTCTGAGGGTT	0.393000													29	79					0	0	0.002836	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341634	55341634	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:55341634C>A	ENST00000391728.4	+	9	1272	c.1239C>A	c.(1237-1239)cgC>cgA	p.R413R	KIR3DL1_ENST00000538269.1_Silent_p.R413R|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Silent_p.R396R|KIR3DL1_ENST00000326542.7_Silent_p.R396R|KIR3DL1_ENST00000358178.4_Silent_p.R318R	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.R413R(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AAATCACTCGCCCTTCTCAGA	0.507000													86	257					3.56499e-28	5.93984e-28	0.003610	1	0
TRMT12	55039	broad.mit.edu	37	8	125463762	125463762	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:125463762G>T	ENST00000328599.3	+	1	715	c.594G>T	c.(592-594)tgG>tgT	p.W198C	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	198					tRNA processing		methyltransferase activity	p.W198C(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCATGGCTGGGTAGAGCATG	0.522000													28	101					1.30897e-18	2.00379e-18	0.009535	1	0
EFHB	151651	broad.mit.edu	37	3	19975080	19975080	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:19975080C>A	ENST00000295824.9	-	1	592	c.431G>T	c.(430-432)aGa>aTa	p.R144I	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	144					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.R142I(1)|p.R144I(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CAAAGGAGCTCTCCTGCTCCC	0.488000													22	96					5.35356e-11	7.17088e-11	0.002780	1	0
PCDH15	65217	broad.mit.edu	37	10	55839091	55839091	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:55839091C>A	ENST00000373965.2	-	18	2506	c.2112_splice	c.e18+1	p.G704_splice	PCDH15_ENST00000395430.1_Splice_Site_p.G697_splice|PCDH15_ENST00000395433.1_Splice_Site_p.G675_splice|PCDH15_ENST00000373957.3_Splice_Site_p.G675_splice|PCDH15_ENST00000414778.1_Splice_Site_p.G702_splice|PCDH15_ENST00000409834.1_Splice_Site_p.G308_splice|PCDH15_ENST00000373955.1_Splice_Site_p.G697_splice|PCDH15_ENST00000395432.2_Splice_Site_p.G660_splice|PCDH15_ENST00000320301.6_Splice_Site_p.G697_splice|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Splice_Site_p.G704_splice|PCDH15_ENST00000437009.1_Splice_Site_p.G626_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Splice_Site_p.G697_splice|PCDH15_ENST00000361849.3_Splice_Site_p.G697_splice|PCDH15_ENST00000395446.1_Splice_Site_p.G697_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	697	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G697G(2)|p.G702G(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCATACTCACCCCATCTGGCC	0.433000										HNSCC(58;0.16)			14	88					1.3612e-06	1.60669e-06	0.003163	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121637934	121637934	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:121637934G>T	ENST00000393386.2	+	10	1525	c.1113_splice	c.e10-1	p.G372_splice	PTPRZ1_ENST00000449182.1_Splice_Site_p.G372_splice	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	372	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.G372C(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTCTTTTAGGGTGCTATTCT	0.358000													5	58					0.00116845	0.00125453	0.001168	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140615779	140615779	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140615779G>T	ENST00000526308.1	+	0	1842					NR_001281.1													p.V498V(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCGTGCTGGTGCTGGACGCCA	0.706000													8	77					0.00448238	0.00473357	0.004482	1	0
AP1G2	8906	broad.mit.edu	37	14	24035553	24035553	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:24035553C>A	ENST00000308724.5	-	3	1160	c.405G>T	c.(403-405)atG>atT	p.M135I	AP1G2_ENST00000397120.3_Missense_Mutation_p.M135I|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	135					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	p.M135I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGTCTCGGCACATCTCAGCAG	0.622000													6	113					3.59834e-05	4.0588e-05	0.001168	1	0
GOLGA2	2801	broad.mit.edu	37	9	131020133	131020133	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:131020133C>G	ENST00000421699.2	-	23	2478	c.2466G>C	c.(2464-2466)ctG>ctC	p.L822L		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	822						Golgi cisterna membrane	protein binding	p.L810L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTCTCCTTCAGGTCTGCCT	0.572000													57	572					0	0	0.003610	0	0
UQCRB	7381	broad.mit.edu	37	8	97247751	97247751	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:97247751C>A	ENST00000287022.5	-	1	111	c.8G>T	c.(7-9)gGt>gTt	p.G3V	UQCRB_ENST00000523920.1_Missense_Mutation_p.G3V|KB-1043D8.6_ENST00000520575.1_RNA|UQCRB_ENST00000518406.1_Missense_Mutation_p.G3V	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	3					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity	p.G3V(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					GGCCTGCTTACCAGCCATTTT	0.532000													6	84					2.7689e-08	3.49873e-08	0.001984	1	0
FAT3	120114	broad.mit.edu	37	11	92616178	92616178	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:92616178C>T	ENST00000298047.6	+	23	12573	c.12556C>T	c.(12556-12558)Cgc>Tgc	p.R4186C	FAT3_ENST00000533797.1_Missense_Mutation_p.R521C|FAT3_ENST00000409404.2_Missense_Mutation_p.R4186C|FAT3_ENST00000525166.1_Missense_Mutation_p.R4036C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4186					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R4186C(2)|p.R761C(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACTACTCCCGCAACAACAT	0.602000										TCGA Ovarian(4;0.039)			5	51					0	0	0.000602	0	0
MUC1	4582	broad.mit.edu	37	1	155161953	155161953	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:155161953T>C	ENST00000368395.1	-	2	251	c.180A>G	c.(178-180)gtA>gtG	p.V60V	MUC1_ENST00000368392.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	842						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	p.V60V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTGGAGAGTACGCTGCTGG	0.587000			T	IGH@	B-NHL								32	213					0	0	0.004289	0	0
PADI1	29943	broad.mit.edu	37	1	17570704	17570704	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:17570704C>A	ENST00000375471.4	+	16	2050	c.1958C>A	c.(1957-1959)cCc>cAc	p.P653H	PADI1_ENST00000537499.1_Missense_Mutation_p.P210H|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Missense_Mutation_p.P124H|PADI1_ENST00000413717.2_Missense_Mutation_p.P168H	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	653					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.P653H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CGCAGGAAGCCCTTTCCCTTC	0.602000													24	76					1.96895e-08	2.49949e-08	0.002780	1	0
MKS1	54903	broad.mit.edu	37	17	56290356	56290356	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:56290356C>G	ENST00000393119.2	-	8	919	c.845G>C	c.(844-846)cGa>cCa	p.R282P	MKS1_ENST00000313863.6_Missense_Mutation_p.R282P|MKS1_ENST00000546108.1_Missense_Mutation_p.R79P|MKS1_ENST00000337050.7_Missense_Mutation_p.R282P|MKS1_ENST00000537529.2_Missense_Mutation_p.R272P	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	282					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.R282P(2)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGAACACTCGCCGTTCCCG	0.537000													42	89					0	0	0.003610	0	0
SMC5	23137	broad.mit.edu	37	9	72965329	72965329	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:72965329T>G	ENST00000361138.5	+	24	3165	c.3107T>G	c.(3106-3108)aTg>aGg	p.M1036R	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1036					DNA recombination|DNA repair	chromosome|nucleus	ATP binding	p.M1036R(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GTGTTTGAAATGGTTGTAAAT	0.328000													9	85					0	0	0.004482	0	0
EME2	197342	broad.mit.edu	37	16	1826131	1826131	+	Silent	SNP	G	G	T	rs151082077	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:1826131G>T	ENST00000307394.7	+	8	1227	c.1227G>T	c.(1225-1227)ccG>ccT	p.P409P	EME2_ENST00000568449.1_Silent_p.P344P			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	353					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	p.P409P(1)|p.P424P(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						TTCCTGTGCCGCCCAGTGAAG	0.701000								Direct reversal of damage;Homologous recombination					16	79					3.32936e-07	4.03436e-07	0.006122	1	0
DST	667	broad.mit.edu	37	6	56470661	56470661	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:56470661G>T	ENST00000370754.5	-	39	8665	c.8666C>A	c.(8665-8667)cCg>cAg	p.P2889Q	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.P2711Q|DST_ENST00000312431.6_Missense_Mutation_p.P2711Q|DST_ENST00000446842.2_Missense_Mutation_p.P2385Q|DST_ENST00000361203.3_Missense_Mutation_p.P2711Q			Q03001	DYST_HUMAN	dystonin	2711					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATGATAGGCGGCAATACATC	0.343000													6	36					0.00116845	0.00125453	0.001168	1	0
SPATC1	375686	broad.mit.edu	37	8	145095317	145095317	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:145095317C>A	ENST00000377470.3	+	2	821	c.719C>A	c.(718-720)aCt>aAt	p.T240N	SPATC1_ENST00000447830.2_Missense_Mutation_p.T240N	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	240								p.T149N(1)|p.T240N(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAGGCCCCACTGGGCCCCAG	0.687000													32	13					1.66425e-11	2.27094e-11	0.004878	1	0
APP	351	broad.mit.edu	37	21	27354704	27354704	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:27354704T>C	ENST00000358918.3	-	9	1376	c.1177A>G	c.(1177-1179)Aaa>Gaa	p.K393E	APP_ENST00000357903.3_Missense_Mutation_p.K374E|APP_ENST00000439274.2_Missense_Mutation_p.K337E|APP_ENST00000348990.5_Missense_Mutation_p.K318E|APP_ENST00000346798.3_Missense_Mutation_p.K393E|APP_ENST00000448388.2_Missense_Mutation_p.K283E|APP_ENST00000354192.3_Missense_Mutation_p.K262E|APP_ENST00000440126.3_Missense_Mutation_p.K369E|APP_ENST00000359726.3_Missense_Mutation_p.K337E	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	393	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	p.K393E(1)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCTTTGGCTTTCTGGAAATGG	0.493000													4	53					0	0	0.001168	0	0
FBXW7	55294	broad.mit.edu	37	4	153244298	153244298	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:153244298G>C	ENST00000281708.4	-	12	3088	c.1859C>G	c.(1858-1860)cCc>cGc	p.P620R	FBXW7_ENST00000603841.1_Missense_Mutation_p.P620R|FBXW7_ENST00000603548.1_Missense_Mutation_p.P620R|FBXW7_ENST00000263981.5_Missense_Mutation_p.P540R|FBXW7_ENST00000393956.3_Missense_Mutation_p.P444R|FBXW7_ENST00000296555.5_Missense_Mutation_p.P502R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	620					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.P620R(2)|p.P540R(1)|p.P381R(1)|p.P502R(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCTTGTTGGGACCTAGACA	0.338000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								7	37					0	0	0.001984	0	0
AACS	65985	broad.mit.edu	37	12	125618604	125618604	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:125618604C>T	ENST00000545511.1	+	5	5331	c.344C>T	c.(343-345)tCa>tTa	p.S115L	AACS_ENST00000316543.10_Silent_p.V133V|AACS_ENST00000316519.6_Silent_p.V535V|AACS_ENST00000543665.1_Missense_Mutation_p.S35L|AACS_ENST00000261686.6_Silent_p.V535V			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	0					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	p.V535V(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGGGCATCGTCATGCTTGGCC	0.597000													5	23					0	0	0.001168	0	0
MST1L	11223	broad.mit.edu	37	1	17085041	17085041	+	RNA	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:17085041C>T	ENST00000455405.2	-	0	147																		p.R447R(1)|p.R478R(1)									GCTGATCCAGCCGATCCACCC	0.607000													6	107					0	0	0.001984	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469379	98469379	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:98469379G>A	ENST00000339364.5	-	2	494	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	125						cytoplasm|plasma membrane		p.T125T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CATCGTCACAGGTGAGCTCCT	0.537000													19	63					0	0	0.002299	0	0
HERC2	8924	broad.mit.edu	37	15	28359782	28359782	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:28359782T>C	ENST00000261609.7	-	90	13997	c.13889A>G	c.(13888-13890)tAc>tGc	p.Y4630C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4630	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Y4630C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCCGCACGTACTCCGCGCG	0.527000													23	41					0	0	0.004656	0	0
MYH9	4627	broad.mit.edu	37	22	36691697	36691697	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:36691697G>T	ENST00000216181.5	-	26	3569	c.3339C>A	c.(3337-3339)atC>atA	p.I1113I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1113					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.I1113I(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGAGTTCAGAGATCTGAGATT	0.522000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				9	36					0.000274275	0.000300083	0.004482	1	0
MUC16	94025	broad.mit.edu	37	19	9012535	9012535	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9012535G>T	ENST00000397910.4	-	35	38874	c.38670_splice	c.e35-1	p.L12891_splice		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12893	SEA 6.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L43I(1)|p.L12891I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGGACCAAGCTGTGGAGGA	0.562000													62	74					3.61411e-23	5.84352e-23	0.003610	1	0
SKA2	348235	broad.mit.edu	37	17	57208721	57208721	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:57208721T>A	ENST00000437036.2	-	2	246	c.136A>T	c.(136-138)Aag>Tag	p.K46*	SKA2_ENST00000330137.7_Missense_Mutation_p.K14I|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Missense_Mutation_p.K14I|SKA2_ENST00000583380.1_Missense_Mutation_p.K14I|SKA2_ENST00000580541.1_Intron	NM_001100595.1	NP_001094065.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	0					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.K46*(2)|p.K4I(1)		lung(4)	4						AGACTCAGCTTTCTGGAACTA	0.313000													5	7					0	0	0.001984	0	0
KIAA0430	9665	broad.mit.edu	37	16	15703455	15703455	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:15703455G>A	ENST00000396368.3	-	20	4085	c.3879C>T	c.(3877-3879)ggC>ggT	p.G1293G	KIAA0430_ENST00000344181.3_Silent_p.G895G|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000551742.1_Silent_p.G1293G|KIAA0430_ENST00000548025.1_Silent_p.G1290G|KIAA0430_ENST00000602337.1_Silent_p.G1290G|KIAA0430_ENST00000540441.2_Silent_p.G1128G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1292						peroxisome	nucleotide binding|RNA binding	p.G1293G(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGCACTGCCGGCCAAAGTGGT	0.403000													4	147					0	0	0.001168	0	0
SPTBN1	6711	broad.mit.edu	37	2	54852032	54852032	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:54852032G>T	ENST00000333896.5	+	10	1620	c.1235G>T	c.(1234-1236)cGc>cTc	p.R412L	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R425L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	425					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.R412L(1)|p.R425L(1)		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)			CAGCTCGCCCGCAGATTTGAT	0.483000													37	47					2.19962e-31	3.7159e-31	0.008740	1	0
CYP2U1	113612	broad.mit.edu	37	4	108866742	108866742	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:108866742G>T	ENST00000332884.6	+	2	1382	c.1107G>T	c.(1105-1107)tcG>tcT	p.S369S	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Silent_p.S160S	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	369					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.S369S(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TGTATATGTCGCTGAACCCCG	0.403000													24	181					9.39395e-14	1.35278e-13	0.006320	1	0
FAM114A2	10827	broad.mit.edu	37	5	153413916	153413916	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:153413916G>T	ENST00000351797.4	-	3	308	c.232C>A	c.(232-234)Ccc>Acc	p.P78T	FAM114A2_ENST00000520313.1_Intron|FAM114A2_ENST00000522858.1_Missense_Mutation_p.P78T|FAM114A2_ENST00000520667.1_Missense_Mutation_p.P78T	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	78							purine nucleotide binding	p.P78T(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CTGGTCTGGGGTACATCTTTG	0.423000													15	60					1.52009e-12	2.13555e-12	0.003163	1	0
SAMD9	54809	broad.mit.edu	37	7	92732395	92732395	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:92732395G>T	ENST00000379958.2	-	3	3285	c.3016C>A	c.(3016-3018)Caa>Aaa	p.Q1006K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1006						cytoplasm		p.Q1006K(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AACATAATTTGACTTTTATTC	0.373000													15	148					0.000219431	0.000242017	0.002450	1	0
RGAG1	57529	broad.mit.edu	37	X	109695410	109695410	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:109695410C>A	ENST00000465301.2	+	3	1811	c.1565C>A	c.(1564-1566)aCa>aAa	p.T522K	RGAG1_ENST00000540313.1_Missense_Mutation_p.T522K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	522								p.T522K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCTCTGAAACAATGTCCATG	0.517000													16	154					1.88708e-17	2.8647e-17	0.008361	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	40					0	0	0.004672	0	0
EIF1B	10289	broad.mit.edu	37	3	40352459	40352459	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:40352459A>T	ENST00000232905.3	+	2	365	c.107A>T	c.(106-108)cAg>cTg	p.Q36L		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	36					regulation of translational initiation		protein binding|translation initiation factor activity	p.Q36L(1)		central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATAAGAATCCAGCAACGGAAC	0.408000													13	78					0	0	0.002450	0	0
PTPRN2	5799	broad.mit.edu	37	7	157341681	157341681	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:157341681C>T	ENST00000389413.3	-	21	2951	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	PTPRN2_ENST00000409483.1_Missense_Mutation_p.E941K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E1002K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E962K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E979K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	979	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E979K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCAAGTGCTCCAGGGTCGCT	0.547000													17	174					0	0	0.008871	0	0
MMP16	4325	broad.mit.edu	37	8	89180030	89180030	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:89180030G>T	ENST00000286614.6	-	4	858	c.577C>A	c.(577-579)Cat>Aat	p.H193N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	193					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.H193N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTGTCCCCATGGAAACCAGAT	0.438000													6	65					2.7689e-08	3.49873e-08	0.001984	1	0
TMC2	117532	broad.mit.edu	37	20	2592925	2592925	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:2592925G>T	ENST00000358864.1	+	13	1697	c.1682G>T	c.(1681-1683)cGa>cTa	p.R561L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	561						integral to membrane		p.R561L(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTGTCCCCCGACCACCCCTG	0.493000													22	150					1.50039e-11	2.04991e-11	0.001882	1	0
ANKRD20A1	84210	broad.mit.edu	37	9	67968379	67968379	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:67968379G>A	ENST00000377477.2	+	15	2050	c.1938G>A	c.(1936-1938)atG>atA	p.M646I		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1									p.M646I(1)		kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAGTAGAAATGAGTTCTGCTA	0.343000													4	90					0	0	0.001168	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256759	140256759	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140256759A>G	ENST00000398631.2	+	1	1702	c.1702A>G	c.(1702-1704)Act>Gct	p.T568A	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.T568A(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCTGGCGACTCCGGCTGG	0.711000													10	131					0	0	0.006122	0	0
SBSN	374897	broad.mit.edu	37	19	36018397	36018397	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:36018397C>G	ENST00000452271.2	-	1	815	c.787G>C	c.(787-789)Ggg>Cgg	p.G263R	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	136						extracellular region		p.G263R(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGTGGACCCCCTGGCCAAAT	0.617000													5	7					0	0	0.001984	0	0
LY6K	54742	broad.mit.edu	37	8	143782017	143782017	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:143782017A>T	ENST00000522591.1	+	1	128	c.72A>T	c.(70-72)agA>agT	p.R24S	LY6K_ENST00000518841.1_Missense_Mutation_p.R24S|LY6K_ENST00000519387.1_Missense_Mutation_p.R24S|LY6K_ENST00000292430.6_Missense_Mutation_p.R24S|LY6K_ENST00000561179.1_Missense_Mutation_p.R82S			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	24						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		p.R82S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGACTGCGAGACAACGAGATC	0.706000													7	10					0	0	0.003080	0	0
MED12L	116931	broad.mit.edu	37	3	151148114	151148114	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:151148114C>G	ENST00000474524.1	+	42	6369	c.6331C>G	c.(6331-6333)Cag>Gag	p.Q2111E	MED12L_ENST00000273432.4_Missense_Mutation_p.Q1775E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2111	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCA	0.532000													8	80					0	0	0.000978	0	0
DNAH9	1770	broad.mit.edu	37	17	11522936	11522936	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:11522936G>T	ENST00000262442.3	+	6	1256	c.1188G>T	c.(1186-1188)gtG>gtT	p.V396V	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Silent_p.V396V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	396	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V397F(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTGCAAGTGGTCTCAGACA	0.433000													17	183					1.5739e-10	2.08771e-10	0.004007	1	0
MXRA5	25878	broad.mit.edu	37	X	3242297	3242297	+	Missense_Mutation	SNP	C	C	G	rs149921437		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:3242297C>G	ENST00000217939.6	-	5	1583	c.1429G>C	c.(1429-1431)Gta>Cta	p.V477L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	477						extracellular region		p.V477L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAATCATTACCCAGCTTCTG	0.507000													3	173					0	0	0.004672	0	0
HNF4G	3174	broad.mit.edu	37	8	76452231	76452231	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:76452231G>T	ENST00000396423.2	+	1	128	c.4G>T	c.(4-6)Gac>Tac	p.D2Y	HNF4G_ENST00000354370.1_Intron	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	0					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D2Y(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACTGGACATGGACATGGCAAA	0.393000													10	231					2.27111e-07	2.77355e-07	0.001368	1	0
GRIP2	80852	broad.mit.edu	37	3	14564532	14564532	+	RNA	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:14564532C>T	ENST00000273083.3	-	0	606							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding	p.V181M(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCGGGCCGCACGTAGGTCAGG	0.612000													7	85					0	0	0.000978	0	0
BNC2	54796	broad.mit.edu	37	9	16419108	16419108	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:16419108C>T	ENST00000380672.4	-	7	3236	c.3179G>A	c.(3178-3180)aGa>aAa	p.R1060K	BNC2_ENST00000545497.1_Missense_Mutation_p.R965K|BNC2_ENST00000380667.2_Missense_Mutation_p.R993K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	1060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.R1060K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGCATTTCTCTCAAATGCAC	0.453000													8	82					0	0	0.004482	0	0
PGBD2	267002	broad.mit.edu	37	1	249211025	249211025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:249211025G>T	ENST00000539153.1	+	4	488	c.233G>T	c.(232-234)tGt>tTt	p.C78F	PGBD2_ENST00000329291.5_Missense_Mutation_p.C81F|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	81								p.C81F(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCAGTCCTGTGTGAGGACTCT	0.562000													9	43					3.07112e-06	3.58625e-06	0.000978	1	0
NEB	4703	broad.mit.edu	37	2	152410462	152410462	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:152410462G>T	ENST00000397345.3	-	126	19708	c.19506C>A	c.(19504-19506)gcC>gcA	p.A6502A	NEB_ENST00000604864.1_Silent_p.A6502A|NEB_ENST00000172853.10_Silent_p.A4801A|NEB_ENST00000409198.1_Silent_p.A4801A|NEB_ENST00000603639.1_Silent_p.A6502A|NEB_ENST00000427231.2_Silent_p.A6502A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4801	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.A4801A(1)|p.A6502A(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGAATCCTTGGCAGTAACCA	0.463000													63	165					7.59065e-32	1.28629e-31	0.003610	1	0
SALL1	6299	broad.mit.edu	37	16	51174492	51174492	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:51174492G>T	ENST00000440970.1	-	2	1781	c.1350C>A	c.(1348-1350)gtC>gtA	p.V450V	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.V547V	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	547					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V547V(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGTAGGCAGGACTGGTTTGG	0.572000													18	42					0.000229342	0.000252692	0.001882	1	0
RBM45	129831	broad.mit.edu	37	2	178981037	178981037	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:178981037G>A	ENST00000286070.5	+	2	441	c.349G>A	c.(349-351)Gat>Aat	p.D117N		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	117					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.D117N(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGATGTTGAAGATGAAGAACT	0.343000													20	225					0	0	0.002299	0	0
C17orf74	201243	broad.mit.edu	37	17	7330141	7330141	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:7330141C>A	ENST00000333870.3	+	3	905	c.831C>A	c.(829-831)gcC>gcA	p.A277A	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	277						integral to membrane		p.A277A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AGCAGTGGGCCTCGTCTCCAC	0.652000													4	19					0.000274275	0.000300083	0.004482	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26212038	26212038	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:26212038A>G	ENST00000380737.3	+	4	564	c.235A>G	c.(235-237)Agc>Ggc	p.S79G	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S89G	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.S79G(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CACCTTCCAGAGCCATGAACC	0.323000													14	105					0	0	0.004007	0	0
SPAG1	6674	broad.mit.edu	37	8	101178126	101178126	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:101178126G>A	ENST00000388798.2	+	3	416	c.225G>A	c.(223-225)ttG>ttA	p.L75L	SPAG1_ENST00000251809.3_Silent_p.L75L|SPAG1_ENST00000520643.1_Silent_p.L75L|SPAG1_ENST00000520508.1_Silent_p.L75L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	75					single fertilization	cytoplasm	GTP binding|hydrolase activity	p.L75L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GCAGAGCTTTGAGGAAAGATA	0.363000													15	102					0	0	0.003163	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17373458	17373458	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:17373458T>C	ENST00000377602.4	-	5	545	c.471A>G	c.(469-471)gaA>gaG	p.E157E		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	157					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.E157E(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CTTTTTTGCTTTCCACCTCGT	0.383000													7	66					0	0	0.004482	0	0
OTUD4	54726	broad.mit.edu	37	4	146067520	146067520	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:146067520C>A	ENST00000454497.2	-	14	1263	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.G441C	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	440							protein binding	p.G375C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GGGGAAAGGCCGAAATAGTTA	0.398000													8	73					1.06961e-07	1.327e-07	0.003080	1	0
OVCH1	341350	broad.mit.edu	37	12	29648297	29648297	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:29648297A>T	ENST00000318184.5	-	4	374	c.375T>A	c.(373-375)atT>atA	p.I125I		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	125	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.I125I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGGATGGGTAATAATTTTTG	0.383000													99	71					0	0	0.003610	0	0
FBN2	2201	broad.mit.edu	37	5	127800495	127800495	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:127800495G>T	ENST00000508053.1	-	12	1722	c.748C>A	c.(748-750)Ccc>Acc	p.P250T	FBN2_ENST00000508989.1_Missense_Mutation_p.P217T|FBN2_ENST00000262464.4_Missense_Mutation_p.P250T			P35556	FBN2_HUMAN	fibrillin 2	250	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P250T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCTCACAGGGATGGCCCCAC	0.597000													26	80					1.75199e-13	2.4999e-13	0.007291	1	0
TRIM51	84767	broad.mit.edu	37	11	55653101	55653101	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:55653101C>A	ENST00000449290.2	+	2	289	c.197C>A	c.(196-198)aCt>aAt	p.T66N		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	66						intracellular	zinc ion binding	p.T66N(1)									AACCTCAACACTGACATTTGT	0.493000													7	18					1.12685e-05	1.29239e-05	0.004482	1	0
SPARC	6678	broad.mit.edu	37	5	151046061	151046061	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:151046061T>C	ENST00000231061.4	-	8	908	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	199					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.I199V(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TTCTCATGGATCTTCTTCACC	0.567000													6	28					0	0	0.001168	0	0
EVC2	132884	broad.mit.edu	37	4	5624341	5624341	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:5624341C>G	ENST00000310917.2	-	14	2915	c.2184G>C	c.(2182-2184)caG>caC	p.Q728H	EVC2_ENST00000344408.5_Missense_Mutation_p.Q808H|EVC2_ENST00000344938.1_Missense_Mutation_p.Q808H	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	808						integral to membrane		p.Q808H(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCTTCAGTCTCTGCCTCACGC	0.632000													5	37					0	0	0.000602	0	0
GCNT1	2650	broad.mit.edu	37	9	79118035	79118035	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:79118035G>A	ENST00000442371.1	+	3	1677	c.738G>A	c.(736-738)agG>agA	p.R246R	GCNT1_ENST00000536223.1_Silent_p.R246R|GCNT1_ENST00000444201.2_Silent_p.R246R|GCNT1_ENST00000376730.4_Silent_p.R246R	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	246	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.R246R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AAACGGAGAGGATGCCATCCC	0.418000													13	81					0	0	0.002450	0	0
PRKAR1B	5575	broad.mit.edu	37	7	624175	624175	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:624175C>T	ENST00000406797.1	-	8	913	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E247K|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E247K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E247K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	247					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.E247K(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGGAACTCCTCGTACATCTTG	0.567000													9	46					0	0	0.000978	0	0
NINL	22981	broad.mit.edu	37	20	25481599	25481599	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:25481599C>G	ENST00000278886.6	-	8	982	c.909G>C	c.(907-909)gtG>gtC	p.V303V	NINL_ENST00000422516.1_Silent_p.V303V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	303				V -> L (in Ref. 5; BAH11644).	G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.V303V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGCACAGGGACACGAGGGATG	0.602000													12	17					0	0	0.002450	0	0
FAM47C	442444	broad.mit.edu	37	X	37027551	37027551	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:37027551G>A	ENST00000358047.3	+	1	1120	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	356								p.P356P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAACCTCCAG	0.632000													11	57					0	0	0.001855	0	0
SRSF4	6429	broad.mit.edu	37	1	29476680	29476680	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:29476680G>T	ENST00000373795.4	-	5	837	c.603C>A	c.(601-603)tcC>tcA	p.S201S	SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	201	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	p.S201S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TGCTCTTACGGGAATGTCTGC	0.438000													25	172					1.75199e-13	2.4999e-13	0.007291	1	0
GPRASP2	114928	broad.mit.edu	37	X	101969999	101969999	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:101969999G>C	ENST00000543253.1	+	5	1121	c.202G>C	c.(202-204)Gca>Cca	p.A68P	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A68P|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A68P	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.A68P(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAGGCCCAAGCAATGTCTGG	0.577000													66	110					0	0	0.003610	0	0
ABTB2	25841	broad.mit.edu	37	11	34218874	34218874	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:34218874T>C	ENST00000435224.2	-	3	1666	c.1242A>G	c.(1240-1242)gaA>gaG	p.E414E	ABTB2_ENST00000298992.2_Silent_p.E228E|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	228							DNA binding	p.E228E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ATCCCTACCGTTCATTGTTCA	0.577000													22	64					0	0	0.010504	0	0
FBN3	84467	broad.mit.edu	37	19	8130912	8130912	+	Missense_Mutation	SNP	C	C	A	rs139098536		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:8130912C>A	ENST00000600128.1	-	64	8735	c.8321G>T	c.(8320-8322)cGg>cTg	p.R2774L	FBN3_ENST00000601739.1_Missense_Mutation_p.R2774L|FBN3_ENST00000270509.2_Missense_Mutation_p.R2774L			Q75N90	FBN3_HUMAN	fibrillin 3	2774						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R2774L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACCTCCAGCCGGTAGGTTCC	0.677000													20	46					5.35047e-06	6.22135e-06	0.003330	1	0
SPEN	23013	broad.mit.edu	37	1	16261133	16261133	+	Missense_Mutation	SNP	G	G	C	rs140025266	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:16261133G>C	ENST00000375759.3	+	11	8602	c.8398G>C	c.(8398-8400)Gcg>Ccg	p.A2800P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2800	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A2800P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCGGCAGACGCGGGCTCAGG	0.592000													3	50					0	0	0.009096	0	0
TENM1	10178	broad.mit.edu	37	X	123517813	123517813	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:123517813G>A	ENST00000422452.2	-	30	7031	c.6968C>T	c.(6967-6969)gCc>gTc	p.A2323V	TENM1_ENST00000371130.3_Missense_Mutation_p.A2316V|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.A2318V(1)									ATTATCACAGGCTACATAATA	0.428000													37	75					0	0	0.003755	0	0
MYH4	4622	broad.mit.edu	37	17	10360870	10360870	+	Silent	SNP	G	G	T	rs145461988	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:10360870G>T	ENST00000255381.2	-	16	1874	c.1764C>A	c.(1762-1764)acC>acA	p.T588T	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	588	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T588T(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGTAGTCCACGGTGCCGGCAT	0.527000													10	104					7.48243e-07	8.92827e-07	0.006214	1	0
TLR2	7097	broad.mit.edu	37	4	154624696	154624696	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:154624696C>T	ENST00000260010.6	+	1	2045	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	213					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.L213L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GCATATTTTACTGCTGGAGAT	0.378000													13	76					0	0	0.002450	0	0
TJP3	27134	broad.mit.edu	37	19	3735930	3735930	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:3735930G>A	ENST00000541714.2	+	10	1586	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	TJP3_ENST00000382008.3_Missense_Mutation_p.R389H|TJP3_ENST00000262968.9_Missense_Mutation_p.R408H|TJP3_ENST00000589378.1_Missense_Mutation_p.R384H|TJP3_ENST00000587686.1_Missense_Mutation_p.R394H|TJP3_ENST00000539908.2_Missense_Mutation_p.R339H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	389						tight junction	protein binding	p.R408H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGAGGATCGTGGGTATGTA	0.522000													22	179					0	0	0.002299	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378156	31378156	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:31378156A>C	ENST00000297142.3	-	2	1049	c.727T>G	c.(727-729)Ttc>Gtc	p.F243V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	243					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.F243V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTTTCATAGAAGGATTCATAC	0.478000													13	203					0	0	0.001855	0	0
CLTC	1213	broad.mit.edu	37	17	57728627	57728627	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:57728627G>A	ENST00000269122.3	+	5	1019	c.745G>A	c.(745-747)Gat>Aat	p.D249N	CLTC_ENST00000393043.1_Missense_Mutation_p.D249N|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	249	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.D249N(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAAGGCAGTGGATGTCTTCTT	0.343000			T	"""ALK, TFE3"""	"""ALCL, renal """								37	197					0	0	0.002522	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691364	157691364	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:157691364C>A	ENST00000389413.3	-	11	1805		c.e11+1		PTPRN2_ENST00000409483.1_Splice_Site|PTPRN2_ENST00000404321.2_Splice_Site|PTPRN2_ENST00000389416.4_Splice_Site|PTPRN2_ENST00000389418.4_Splice_Site	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2							integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTGTTACTCACCGACCCGACT	0.507000													114	262					3.21225e-43	5.573e-43	0.003610	1	0
LRP1B	53353	broad.mit.edu	37	2	141680576	141680576	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:141680576G>T	ENST00000389484.3	-	21	4248	c.3277C>A	c.(3277-3279)Cga>Aga	p.R1093R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1093					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R1093R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACACAATCGTATGGTACCA	0.453000										TSP Lung(27;0.18)			70	171					9.42754e-34	1.61005e-33	0.003610	1	0
DNAH11	8701	broad.mit.edu	37	7	21750234	21750234	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:21750234G>A	ENST00000328843.6	+	42	6799	c.6768G>A	c.(6766-6768)aaG>aaA	p.K2256K	DNAH11_ENST00000409508.3_Silent_p.K2249K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2256	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K2256K(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAATCTTAAGCATGATGGAC	0.353000									Kartagener syndrome				6	42					0	0	0.001984	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967276	41967276	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:41967276C>G	ENST00000298919.7	+	10	2303	c.1915C>G	c.(1915-1917)Cgg>Ggg	p.R639G	PDZRN4_ENST00000402685.2_Missense_Mutation_p.R899G|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R641G			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	899							ubiquitin-protein ligase activity|zinc ion binding	p.R641G(1)|p.R899G(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGACGGGACACGGTACATCAC	0.517000													27	131					0	0	0.006320	0	0
ATR	545	broad.mit.edu	37	3	142253921	142253921	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:142253921C>A	ENST00000350721.4	-	21	4067		c.e21+1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related						cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.?(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATTAGCATACCTGATTTTTA	0.313000								Other conserved DNA damage response genes					15	32					7.81268e-19	1.20102e-18	0.004990	1	0
TEAD1	7003	broad.mit.edu	37	11	12883843	12883843	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:12883843G>C	ENST00000361905.4	+	4	869	c.204G>C	c.(202-204)aaG>aaC	p.K68N	TEAD1_ENST00000334310.6_Missense_Mutation_p.K68N|TEAD1_ENST00000361985.2_Missense_Mutation_p.K83N|TEAD1_ENST00000527575.1_Missense_Mutation_p.K83N|TEAD1_ENST00000527636.1_Missense_Mutation_p.K83N	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	83					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K68N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGACAGGCAAGACGAGGACCA	0.443000													17	26					0	0	0.008871	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477130	42477130	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:42477130C>A	ENST00000434000.1	-	9	2363	c.2081G>T	c.(2080-2082)gGt>gTt	p.G694V	GPATCH8_ENST00000591680.1_Missense_Mutation_p.G772V			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	772	Lys-rich.					intracellular	nucleic acid binding|zinc ion binding	p.G772V(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACCACCCCCACCTTCATCCTT	0.587000													10	126					2.27111e-07	2.77355e-07	0.001368	1	0
ZNF679	168417	broad.mit.edu	37	7	63720657	63720657	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:63720657T>A	ENST00000421025.1	+	3	367	c.98T>A	c.(97-99)cTg>cAg	p.L33Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.L33Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L33Q(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGGCAATGCCTGGATCACGCT	0.393000													6	139					0	0	0.003080	0	0
CDH23	64072	broad.mit.edu	37	10	73468968	73468968	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:73468968G>T	ENST00000224721.6	+	26	3240	c.3235_splice	c.e26+1	p.D1079_splice		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1074	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.D1079Y(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAGGCCATCGGTATGCACCA	0.612000													6	40					5.18039e-06	6.03e-06	0.003080	1	0
MYOCD	93649	broad.mit.edu	37	17	12642536	12642536	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:12642536C>T	ENST00000425538.1	+	7	808	c.608C>T	c.(607-609)tCa>tTa	p.S203L	MYOCD_ENST00000343344.4_Missense_Mutation_p.S203L|MYOCD_ENST00000395988.1_Missense_Mutation_p.S107L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	203	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.S203L(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCTTCTGGCTCAGAAAATGAC	0.498000													18	86					0	0	0.007413	0	0
CDH23	64072	broad.mit.edu	37	10	73330613	73330613	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:73330613G>T	ENST00000224721.6	+	7	711	c.706G>T	c.(706-708)Gac>Tac	p.D236Y	CDH23_ENST00000299366.7_Missense_Mutation_p.D276Y|CDH23_ENST00000461841.3_Missense_Mutation_p.D276Y|CDH23_ENST00000398842.3_Missense_Mutation_p.D231Y|CDH23_ENST00000398809.4_Missense_Mutation_p.D231Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	231	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.D236Y(1)|p.D231Y(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGATGTCCAGGACATGGACCC	0.527000											OREG0020254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	70					4.68919e-08	5.85747e-08	0.008291	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312856	153312856	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:153312856C>A	ENST00000368739.3	-	7	1171		c.e7+1		PGLYRP4_ENST00000359650.5_Splice_Site			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4						defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.?(3)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCCACTCACTTATAACCAA	0.512000													73	91					1.43161e-34	2.45259e-34	0.003610	1	0
ZNF100	163227	broad.mit.edu	37	19	21909902	21909902	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:21909902T>C	ENST00000358296.6	-	5	1410	c.1212A>G	c.(1210-1212)gaA>gaG	p.E404E	ZNF100_ENST00000305570.6_Silent_p.E340E	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E404E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGCCGCATTCTTCACATTTGT	0.383000													4	45					0	0	0.009096	0	0
LRP1	4035	broad.mit.edu	37	12	57572789	57572789	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:57572789A>T	ENST00000243077.3	+	28	5189	c.4723A>T	c.(4723-4725)Aac>Tac	p.N1575Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1575	EGF-like 7.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.N1575Y(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACAAGGACAACACCACCTG	0.642000													80	89					0	0	0.003610	0	0
PTPN4	5775	broad.mit.edu	37	2	120723086	120723086	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:120723086G>A	ENST00000263708.2	+	25	3194	c.2423G>A	c.(2422-2424)cGt>cAt	p.R808H	PTPN4_ENST00000544261.1_Missense_Mutation_p.R441H	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	808	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.R808H(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AATGAAAGTCGTCCACTCACT	0.378000													9	82					0	0	0.006214	0	0
SUSD3	203328	broad.mit.edu	37	9	95841860	95841860	+	Missense_Mutation	SNP	C	C	T	rs149501399	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:95841860C>T	ENST00000375472.3	+	4	569	c.533C>T	c.(532-534)gCg>gTg	p.A178V	SUSD3_ENST00000375469.1_Missense_Mutation_p.A165V	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	178						integral to membrane		p.A178V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCCAGCCAGGCGCACGACAAC	0.647000													13	34					0	0	0.002450	0	0
BEST3	144453	broad.mit.edu	37	12	70049505	70049505	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:70049505G>A	ENST00000330891.5	-	10	1415	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R291W|BEST3_ENST00000488961.1_Missense_Mutation_p.R184W	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	397						chloride channel complex|plasma membrane	chloride channel activity	p.R397W(1)|p.R184W(1)		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)			CTCAGGAACCGCTTGACTCTT	0.542000													96	97					0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237791358	237791358	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:237791358A>T	ENST00000366574.2	+	41	6735	c.6418A>T	c.(6418-6420)Aag>Tag	p.K2140*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.K2138*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.K2124*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2140	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.K2138*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAAGAAGAGAAGCTCATGAT	0.423000													20	63					0	0	0.002299	0	0
SCN2A	6326	broad.mit.edu	37	2	166168555	166168555	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:166168555G>T	ENST00000357398.3	+	8	1281	c.991G>T	c.(991-993)Ggg>Tgg	p.G331W	SCN2A_ENST00000375427.2_Missense_Mutation_p.G331W|SCN2A_ENST00000283256.6_Missense_Mutation_p.G331W|SCN2A_ENST00000375437.2_Missense_Mutation_p.G331W			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	331					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G331W(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTTTTTAGAGGGGCAAAATGA	0.413000													6	55					8.12818e-05	9.07467e-05	0.001984	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530549	140530549	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140530549C>A	ENST00000231136.1	+	1	711	c.711C>A	c.(709-711)aaC>aaA	p.N237K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.N101K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		237	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.N237K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGTCCCCGAGT	0.562000													9	53					0.000978159	0.00105437	0.000978	1	0
ZNF333	84449	broad.mit.edu	37	19	14829857	14829857	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:14829857A>T	ENST00000292530.6	+	12	1809	c.1718A>T	c.(1717-1719)gAg>gTg	p.E573V	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.E464V	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E573V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GCCTTCAGTGAGCCCTCATCC	0.532000													14	53					0	0	0.002450	0	0
OR6K6	128371	broad.mit.edu	37	1	158725187	158725187	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:158725187G>T	ENST00000368144.2	+	1	678	c.582G>T	c.(580-582)ttG>ttT	p.L194F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L194F(2)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTTCCACCTTGCCTTTCTGTG	0.478000													12	178					5.16669e-11	6.94611e-11	0.000978	1	0
CNTN3	5067	broad.mit.edu	37	3	74420485	74420485	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:74420485C>T	ENST00000263665.6	-	5	547	c.520G>A	c.(520-522)Gtc>Atc	p.V174I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	174	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V174I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCTGGGAGACAAATCTCCGA	0.418000													4	56					0	0	0.000602	0	0
LY86	9450	broad.mit.edu	37	6	6589040	6589040	+	Missense_Mutation	SNP	A	A	G	rs75006006		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:6589040A>G	ENST00000379953.2	+	2	425	c.73A>G	c.(73-75)Aaa>Gaa	p.K25E	LY86-AS1_ENST00000435641.1_RNA|LY86_ENST00000230568.4_Missense_Mutation_p.K25E|LY86-AS1_ENST00000429345.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	25					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		p.K25E(1)		large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CGGCGGTGGGAAAGCCTGGCC	0.572000													15	82					0	0	0.001882	0	0
SLC5A9	200010	broad.mit.edu	37	1	48708153	48708153	+	Missense_Mutation	SNP	C	C	T	rs138580488		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:48708153C>T	ENST00000236495.5	+	14	1827	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000438567.2_Missense_Mutation_p.R568W|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R589W	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	568						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	p.R586W(1)		breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ATGGTGGACTCGGAACTGCCC	0.597000													23	123					0	0	0.003954	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021194	142021194	+	RNA	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:142021194A>G	ENST00000390381.3	+	0	483																											AACAGACCCCAGGACAGGGCC	0.493000													8	44					0	0	0.008291	0	0
WDR33	55339	broad.mit.edu	37	2	128477639	128477639	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:128477639C>G	ENST00000322313.4	-	16	2118	c.1960G>C	c.(1960-1962)Gga>Cga	p.G654R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	654	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.G654R(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CCCTGTGGTCCCATGAATCCT	0.642000													18	61					0	0	0.010504	0	0
KLHL23	151230	broad.mit.edu	37	2	170592412	170592412	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:170592412A>T	ENST00000392647.2	+	2	1132	c.888A>T	c.(886-888)acA>acT	p.T296T	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Silent_p.T296T	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	296								p.T296T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						ATCCTTTGACAAATGTTTGGA	0.423000													119	238					0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38766748	38766748	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:38766748C>A	ENST00000449082.2	-	17	3144	c.3145G>T	c.(3145-3147)Ggc>Tgc	p.G1049C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1049					sensory perception	voltage-gated sodium channel complex		p.G1049C(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTTCCAGTGCCTGGGCTCCTG	0.597000													7	39					5.4927e-09	7.06297e-09	0.004482	1	0
SLC8A1	6546	broad.mit.edu	37	2	40655643	40655643	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:40655643C>G	ENST00000406785.1	-	2	1967	c.1778G>C	c.(1777-1779)gGa>gCa	p.G593A	SLC8A1_ENST00000542756.1_Missense_Mutation_p.G593A|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G593A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G593A|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G593A|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G593A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G593A|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G593A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G593A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G593A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	593	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.G593A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCGAGCTCTCCACAAGTGTC	0.418000													22	38					0	0	0.010504	0	0
MRPL2	51069	broad.mit.edu	37	6	43023909	43023909	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:43023909C>A	ENST00000388752.3	-	4	854	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W	MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.G144W	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	144					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G144W(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CGGCTGCCCCCAGCAACCAGA	0.522000													26	118					4.43304e-23	7.14647e-23	0.006320	1	0
ZNF407	55628	broad.mit.edu	37	18	72353080	72353080	+	Splice_Site	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:72353080T>C	ENST00000299687.5	+	2	4802		c.e2+2		ZNF407_ENST00000582337.1_Splice_Site|ZNF407_ENST00000577538.1_Splice_Site|ZNF407_ENST00000309902.6_Splice_Site	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGTCTGTGGGTGAGTAAATTG	0.458000													33	70					0	0	0.002445	0	0
PLOD2	5352	broad.mit.edu	37	3	145806427	145806427	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:145806427T>C	ENST00000282903.5	-	9	1128	c.951A>G	c.(949-951)atA>atG	p.I317M	PLOD2_ENST00000360060.3_Missense_Mutation_p.I317M|PLOD2_ENST00000494950.1_Missense_Mutation_p.I262M|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	317					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.I317M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GTGTCAACAATATGTCCAGAA	0.308000													13	16					0	0	0.001855	0	0
OR4K5	79317	broad.mit.edu	37	14	20389623	20389623	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:20389623T>G	ENST00000315915.4	+	1	883	c.858T>G	c.(856-858)atT>atG	p.I286M		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I286M(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCCCATTATTTATACACTAA	0.403000													8	125					0	0	0.006214	0	0
EFR3A	23167	broad.mit.edu	37	8	132958799	132958799	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:132958799A>G	ENST00000254624.5	+	4	510	c.285A>G	c.(283-285)ccA>ccG	p.P95P	EFR3A_ENST00000334503.4_Silent_p.P95P|EFR3A_ENST00000519656.1_Silent_p.P59P	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	95						plasma membrane	binding	p.P95P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCATTAAGCCATTTGTAGAAA	0.408000													3	12					0	0	0.004672	0	0
HFM1	164045	broad.mit.edu	37	1	91728125	91728125	+	Missense_Mutation	SNP	C	C	A	rs148254635		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:91728125C>A	ENST00000294696.5	-	36	4006	c.1604G>T	c.(1603-1605)cGg>cTg	p.R535L	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.S1012S|HFM1_ENST00000370425.3_Silent_p.S1333S			A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	0	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.S1333S(2)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGAAATATCCGACATCTCAT	0.303000													15	58					1.15088e-07	1.42137e-07	0.004007	1	0
MAGEA10	4109	broad.mit.edu	37	X	151303238	151303238	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:151303238C>A	ENST00000370323.4	-	4	1171	c.855G>T	c.(853-855)caG>caT	p.Q285H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q285H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	285	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGGCACCTGCCGGTACT	0.522000													4	139					0.00116845	0.00125453	0.001168	1	0
PDE2A	5138	broad.mit.edu	37	11	72295737	72295737	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:72295737G>A	ENST00000334456.5	-	18	1640	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	PDE2A_ENST00000444035.2_Silent_p.I456I|PDE2A_ENST00000418754.2_Silent_p.I350I|PDE2A_ENST00000376450.3_Silent_p.I209I|PDE2A_ENST00000540345.1_Silent_p.I456I|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Silent_p.I458I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	465	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.I465I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CGTGTCCCGCGATGCCCTGAT	0.617000													4	61					0	0	0.009096	0	0
FRMD6	122786	broad.mit.edu	37	14	52186887	52186887	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:52186887G>T	ENST00000395718.2	+	11	1400	c.1115G>T	c.(1114-1116)cGc>cTc	p.R372L	FRMD6_ENST00000344768.5_Missense_Mutation_p.R380L|FRMD6_ENST00000554167.1_Missense_Mutation_p.R303L|FRMD6_ENST00000553556.1_Missense_Mutation_p.R22L|FRMD6_ENST00000356218.4_Missense_Mutation_p.R372L	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	380						cytoskeleton|mitochondrion|plasma membrane	binding	p.R372L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AAACACAAGCGCCTGTCCCGT	0.622000													21	24					3.28513e-13	4.66924e-13	0.003954	1	0
SORL1	6653	broad.mit.edu	37	11	121477578	121477578	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:121477578A>T	ENST00000260197.7	+	36	5102	c.4973A>T	c.(4972-4974)cAg>cTg	p.Q1658L	SORL1_ENST00000534286.1_Missense_Mutation_p.Q568L|SORL1_ENST00000532694.1_Missense_Mutation_p.Q504L|SORL1_ENST00000525532.1_Missense_Mutation_p.Q602L|SORL1_ENST00000527934.1_Missense_Mutation_p.Q273L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1658	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.Q1658L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGAAATCTCCAGCTGTCACTC	0.512000													19	158					0	0	0.007413	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989048	66989048	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:66989048C>A	ENST00000276570.5	+	4	560	c.273C>A	c.(271-273)gcC>gcA	p.A91A	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	91					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.A91E(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TCTACGTGGCCGAGCAGTTTG	0.453000													44	149					1.19451e-25	1.96036e-25	0.003610	1	0
QRICH2	84074	broad.mit.edu	37	17	74288578	74288578	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:74288578G>A	ENST00000262765.5	-	4	1911	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	578	Gln-rich.						protein binding	p.R578C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGATCTGCACGAGGTTGTGCC	0.537000													12	82					0	0	0.001855	0	0
WNT9A	7483	broad.mit.edu	37	1	228109340	228109340	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:228109340C>G	ENST00000272164.5	-	4	987	c.977G>C	c.(976-978)cGc>cCc	p.R326P	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	326					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.R326P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GTTATGGCCGCGGCCACAGCA	0.652000													3	39					0	0	0.004672	0	0
PSMD12	5718	broad.mit.edu	37	17	65340847	65340847	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:65340847G>T	ENST00000356126.3	-	9	1065	c.958C>A	c.(958-960)Ctt>Att	p.L320I	PSMD12_ENST00000357146.4_Missense_Mutation_p.L300I	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	320	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	p.L320I(1)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TCCTCAACAAGTGTGGACCAA	0.358000													18	81					1.02788e-11	1.41853e-11	0.004990	1	0
SLC12A5	57468	broad.mit.edu	37	20	44664168	44664168	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:44664168G>T	ENST00000454036.1	+	3	418	c.342G>T	c.(340-342)ccG>ccT	p.P114P	SLC12A5_ENST00000539566.1_Silent_p.P91P|SLC12A5_ENST00000372315.1_Silent_p.P91P|SLC12A5_ENST00000243964.3_Silent_p.P91P	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	114					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.P91P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAAAGAAGCCGGTGCAGGTGA	0.562000													44	42					4.10826e-27	6.79324e-27	0.003610	1	0
FGFR1	2260	broad.mit.edu	37	8	38272335	38272335	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:38272335C>T	ENST00000447712.2	-	14	2880	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N	FGFR1_ENST00000397091.5_Missense_Mutation_p.D645N|FGFR1_ENST00000425967.3_Missense_Mutation_p.D678N|FGFR1_ENST00000326324.6_Missense_Mutation_p.D556N|FGFR1_ENST00000335922.5_Missense_Mutation_p.D637N|FGFR1_ENST00000397103.1_Missense_Mutation_p.D558N|FGFR1_ENST00000397113.2_Missense_Mutation_p.D645N|FGFR1_ENST00000397108.4_Missense_Mutation_p.D645N|FGFR1_ENST00000356207.5_Missense_Mutation_p.D558N|FGFR1_ENST00000341462.5_Missense_Mutation_p.D647N|FGFR1_ENST00000532791.1_Missense_Mutation_p.D645N	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	647	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.D647N(3)|p.D637N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGGTGAATGTCCCGTGCGAGG	0.537000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						25	190					0	0	0.006320	0	0
DRD2	1813	broad.mit.edu	37	11	113295192	113295192	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:113295192C>T	ENST00000362072.3	-	2	526	c.182G>A	c.(181-183)cGc>cAc	p.R61H	DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000538967.1_Missense_Mutation_p.R61H|DRD2_ENST00000346454.3_Missense_Mutation_p.R61H|DRD2_ENST00000355319.2_Missense_Mutation_p.R61H|DRD2_ENST00000544518.1_Missense_Mutation_p.R61H|DRD2_ENST00000542968.1_Missense_Mutation_p.R61H	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	61					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.R61H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGCCTTCTCGCGGGACACAGC	0.607000													7	41					0	0	0.006214	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633906	70633906	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:70633906C>A	ENST00000381269.2	-	2	1987	c.1234G>T	c.(1234-1236)Ggg>Tgg	p.G412W	SLC8A3_ENST00000356921.2_Missense_Mutation_p.G412W|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G412W|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G412W|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G412W	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	412	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G412W(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTACAGCCCCACAGTTCTCC	0.522000													19	106					1.50039e-11	2.04991e-11	0.001882	1	0
FLG	2312	broad.mit.edu	37	1	152283359	152283359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:152283359C>A	ENST00000368799.1	-	3	4038	c.4003G>T	c.(4003-4005)Gag>Tag	p.E1335*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1335	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E1335*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGACTCTGTGTGATGA	0.547000									Ichthyosis				43	754					1.56989e-16	2.35376e-16	0.003610	1	0
MLLT4	4301	broad.mit.edu	37	6	168352255	168352255	+	Silent	SNP	G	G	T	rs145659193	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:168352255G>T	ENST00000366806.2	+	30	4342	c.4200G>T	c.(4198-4200)ccG>ccT	p.P1400P	MLLT4_ENST00000351017.4_Silent_p.P1407P|MLLT4_ENST00000392112.1_Silent_p.P1383P|MLLT4_ENST00000392108.3_Silent_p.P1400P|MLLT4_ENST00000344191.4_Silent_p.P1400P|MLLT4_ENST00000400822.3_Silent_p.P1399P|MLLT4_ENST00000447894.2_Silent_p.P1400P			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1400					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.P1400P(1)|p.P1384P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TAGGGCTGCCGTCTGCGCAGG	0.602000			T	MLL	AL								36	94					1.03484e-13	1.48241e-13	0.005524	1	0
PCDHGC3	5098	broad.mit.edu	37	5	140856219	140856219	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140856219A>G	ENST00000308177.3	+	1	640	c.536A>G	c.(535-537)tAc>tGc	p.Y179C	PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1												p.Y179C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAATGAATACTTTGCGCTT	0.612000													4	65					0	0	0.009096	0	0
ABCA13	154664	broad.mit.edu	37	7	48563921	48563921	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:48563921A>C	ENST00000435803.1	+	54	14153	c.14129A>C	c.(14128-14130)gAa>gCa	p.E4710A	ABCA13_ENST00000544596.1_Missense_Mutation_p.E440A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4710					transport	integral to membrane	ATP binding|ATPase activity	p.E4655A(1)|p.E4710A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGAGTGTTTGAAGGAAGGACC	0.388000													3	34					0	0	0.004672	0	0
NMUR2	56923	broad.mit.edu	37	5	151784176	151784176	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:151784176G>T	ENST00000255262.3	-	1	664	c.499C>A	c.(499-501)Ctc>Atc	p.L167I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	167					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.L167I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			ACGATGCCGAGGATCCTGAGG	0.637000													23	69					8.24728e-16	1.21815e-15	0.004656	1	0
REV1	51455	broad.mit.edu	37	2	100052327	100052327	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:100052327T>A	ENST00000258428.3	-	7	1518	c.1290A>T	c.(1288-1290)tcA>tcT	p.S430S	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.S430S	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	430	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.S430S(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTATACCCACTGATACAAAGA	0.323000								Direct reversal of damage					18	57					0	0	0.010504	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989047	66989047	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:66989047C>A	ENST00000276570.5	+	4	559	c.272C>A	c.(271-273)gCc>gAc	p.A91D	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	91					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.A91E(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CTCTACGTGGCCGAGCAGTTT	0.448000													45	152					2.9001e-28	4.83941e-28	0.003610	1	0
C4orf21	55345	broad.mit.edu	37	4	113541196	113541196	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:113541196G>A	ENST00000505019.1	-	5	438	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	C4orf21_ENST00000309071.5_Missense_Mutation_p.L105F|C4orf21_ENST00000445203.2_Missense_Mutation_p.L74F	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	105								p.L105F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGACATCCAAGAGATCGGCCA	0.343000													10	63					0	0	0.000978	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764324	77764324	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:77764324C>A	ENST00000521891.2	+	10	5615	c.5167C>A	c.(5167-5169)Cct>Act	p.P1723T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1678T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1678T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1697T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1678	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1723T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTCATTTTCCTATGACCCC	0.473000										HNSCC(33;0.089)			27	137					2.79863e-10	3.6988e-10	0.004656	1	0
TMEM69	51249	broad.mit.edu	37	1	46159475	46159475	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:46159475G>A	ENST00000372025.4	+	3	1799	c.642G>A	c.(640-642)ctG>ctA	p.L214L	TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	214						integral to membrane		p.L214L(1)		kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					TTAAAGCCCTGAGGATAGTAG	0.368000													12	120					0	0	0.001855	0	0
UBAP2	55833	broad.mit.edu	37	9	33927878	33927878	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:33927878T>C	ENST00000379238.1	-	20	2405	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	UBAP2_ENST00000379235.1_Missense_Mutation_p.N2S|UBAP2_ENST00000360802.1_Missense_Mutation_p.N763S|UBAP2_ENST00000539807.1_Missense_Mutation_p.N518S|UBAP2_ENST00000379239.4_Missense_Mutation_p.N496S|UBAP2_ENST00000418786.2_3'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.N763S			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	763								p.N763S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GTTCGCGGTGTTCATGCTACT	0.642000													14	121					0	0	0.007413	0	0
EMR3	84658	broad.mit.edu	37	19	14740861	14740861	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:14740861A>T	ENST00000253673.5	-	14	1902	c.1802T>A	c.(1801-1803)cTc>cAc	p.L601H	EMR3_ENST00000344373.4_Missense_Mutation_p.L549H|EMR3_ENST00000599900.1_Missense_Mutation_p.L386H|EMR3_ENST00000443157.2_Missense_Mutation_p.L475H	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	601					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L601H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTGCTGGCTGAGGAGGCAGTA	0.453000													21	24					0	0	0.005443	0	0
CDH19	28513	broad.mit.edu	37	18	64178899	64178899	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:64178899C>A	ENST00000262150.2	-	10	1774	c.1482G>T	c.(1480-1482)gtG>gtT	p.V494V	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	494	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V494V(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CATCTCTATCCACTGCACTGA	0.323000													10	33					0.00136819	0.00146611	0.001368	1	0
RORB	6096	broad.mit.edu	37	9	77257434	77257434	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:77257434G>T	ENST00000376896.2	+	4	952	c.340G>T	c.(340-342)Gag>Tag	p.E114*	RORB_ENST00000396204.2_Nonsense_Mutation_p.E125*	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	125	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.E114*(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						gcagAGTGGGGAGGCAGAAGC	0.587000													22	19					2.65835e-16	3.96395e-16	0.007291	1	0
RPL32P3	132241	broad.mit.edu	37	3	129115205	129115205	+	RNA	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:129115205T>A	ENST00000514355.1	-	0	513																				lung(1)	1						TATCAAGACCTGGCCCTTGAA	0.448000													14	121					0	0	0.004007	0	0
ZNF253	56242	broad.mit.edu	37	19	19990929	19990929	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:19990929G>T	ENST00000589717.1	+	3	292	c.200G>T	c.(199-201)aGa>aTa	p.R67I	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	67	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R67I(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTATGGAAAGACATGAGATG	0.378000													17	64					1.56452e-12	2.19234e-12	0.007413	1	0
CASC4	113201	broad.mit.edu	37	15	44581416	44581416	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:44581416G>A	ENST00000299957.6	+	1	488	c.189G>A	c.(187-189)ctG>ctA	p.L63L	CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000360824.3_Silent_p.L63L|CASC4_ENST00000345795.2_Silent_p.L63L	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	63						integral to membrane		p.L63L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GCGGGCGGCTGGAAAAGCGCA	0.647000													10	46					0	0	0.008291	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	50					0	0	0.001168	0	0
OR5M8	219484	broad.mit.edu	37	11	56257998	56257998	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:56257998C>T	ENST00000327216.2	-	1	873	c.849G>A	c.(847-849)atG>atA	p.M283I		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M283I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TAAGGTTCAGCATAGGGATTA	0.328000													5	92					0	0	0.001984	0	0
PCDH17	27253	broad.mit.edu	37	13	58207106	58207106	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:58207106G>T	ENST00000377918.3	+	1	452	c.426G>T	c.(424-426)tcG>tcT	p.S142S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	142	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S142S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGACATCTCGGAGAACGCTG	0.617000													17	17					7.07596e-05	7.93233e-05	0.006122	1	0
CRISPLD1	83690	broad.mit.edu	37	8	75944444	75944444	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:75944444A>T	ENST00000262207.4	+	15	1938	c.1470A>T	c.(1468-1470)ggA>ggT	p.G490G	CRISPLD1_ENST00000523524.1_Silent_p.G302G|CRISPLD1_ENST00000517786.1_Silent_p.G304G	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	490	LCCL 2.					extracellular region		p.G490G(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATCCTCCAGGAGGAAAGGCAT	0.308000													5	145					0	0	0.001984	0	0
WDR60	55112	broad.mit.edu	37	7	158716322	158716322	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:158716322G>C	ENST00000407559.3	+	17	2313	c.2155G>C	c.(2155-2157)Ggc>Cgc	p.G719R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	719								p.G719L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AACAGCGCACGGCTCAGTTGT	0.502000													74	159					0	0	0.003610	0	0
TMEM186	25880	broad.mit.edu	37	16	8889820	8889820	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:8889820T>A	ENST00000333050.6	-	2	664	c.631A>T	c.(631-633)Atg>Ttg	p.M211L	TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	211						integral to membrane|mitochondrion		p.M211L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						CACTTGAGCATCTGATGTACC	0.552000													67	125					0	0	0.003610	0	0
ASB17	127247	broad.mit.edu	37	1	76397818	76397818	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:76397818T>A	ENST00000284142.6	-	1	298	c.159A>T	c.(157-159)aaA>aaT	p.K53N		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	53					intracellular signal transduction			p.K53N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACCTCAGAATTTTTGCCAGTG	0.398000													40	110					0	0	0.009718	0	0
DNAH9	1770	broad.mit.edu	37	17	11522937	11522937	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:11522937G>T	ENST00000262442.3	+	6	1257	c.1189G>T	c.(1189-1191)Gtc>Ttc	p.V397F	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.V397F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	397	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V397F(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTGCAAGTGGTCTCAGACAC	0.433000													19	184					6.94344e-10	9.12161e-10	0.006122	1	0
KIAA1024	23251	broad.mit.edu	37	15	79748634	79748634	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:79748634G>C	ENST00000305428.3	+	2	220	c.145G>C	c.(145-147)Gtg>Ctg	p.V49L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	49						integral to membrane		p.V49L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ACTGAGAAGTGTGCTCTTCTA	0.458000													13	103					0	0	0.006122	0	0
AGPS	8540	broad.mit.edu	37	2	178326701	178326701	+	Silent	SNP	C	C	T	rs146526791		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:178326701C>T	ENST00000264167.4	+	9	1097	c.951C>T	c.(949-951)cgC>cgT	p.R317R	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	317	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.R317R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TATCTACTCGCGCATCAGGCA	0.333000													11	106					0	0	0.000978	0	0
RP1L1	94137	broad.mit.edu	37	8	10473975	10473975	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:10473975C>A	ENST00000382483.3	-	3	955	c.732G>T	c.(730-732)ctG>ctT	p.L244L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	244					intracellular signal transduction			p.L244P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCTTGAAGTCAGCCCAGATA	0.522000													16	55					1.33834e-09	1.74976e-09	0.007413	1	0
TAS2R14	50840	broad.mit.edu	37	12	11091741	11091741	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:11091741T>A	ENST00000537503.1	-	1	121	c.66A>T	c.(64-66)ttA>ttT	p.L22F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	22					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	p.L22F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						AACTATTTCCTAAATTTCCAA	0.393000													9	61					0	0	0.006214	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134833	119134833	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:119134833C>G	ENST00000264245.4	+	12	4589	c.4057C>G	c.(4057-4059)Cct>Gct	p.P1353A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1353					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.P1353A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATTCAGTCCTCCTTTCCCCAT	0.522000													15	207					0	0	0.006122	0	0
AC096579.13	0	broad.mit.edu	37	2	89156827	89156827	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:89156827G>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA																							CAAAGGATGGGAGGGGGTCAG	0.592000													6	38					2.0095e-06	2.35411e-06	0.001984	1	0
DAK	26007	broad.mit.edu	37	11	61110055	61110055	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:61110055G>T	ENST00000394900.3	+	9	929	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	234	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	p.A234S(1)|p.A234T(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GATGGCAACCGCCGATGAGAT	0.622000													17	93					6.49762e-13	9.15193e-13	0.006122	1	0
LPHN2	23266	broad.mit.edu	37	1	82409232	82409232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:82409232C>A	ENST00000370728.1	+	8	1622	c.977C>A	c.(976-978)tCa>tAa	p.S326*	LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S330*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S326*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S326*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S326*|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	326	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S326*(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTGGTTAGGTCAGTTTATCAA	0.408000													13	118					4.3838e-07	5.28279e-07	0.001855	1	0
NFATC1	4772	broad.mit.edu	37	18	77221367	77221367	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:77221367G>T	ENST00000253506.5	+	7	2328		c.e7+1		NFATC1_ENST00000545796.1_Splice_Site|NFATC1_ENST00000586434.1_Splice_Site|NFATC1_ENST00000427363.2_Splice_Site|NFATC1_ENST00000591814.1_Splice_Site|NFATC1_ENST00000318065.5_Splice_Site|NFATC1_ENST00000397790.2_Splice_Site|NFATC1_ENST00000592223.1_Splice_Site|NFATC1_ENST00000587635.1_Splice_Site|NFATC1_ENST00000542384.1_Splice_Site|NFATC1_ENST00000329101.4_Splice_Site	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1						intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.?(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GTGCAAGCCGGTGAGTGCCTT	0.632000													9	28					1.3612e-06	1.60669e-06	0.003163	1	0
CDH10	1008	broad.mit.edu	37	5	24537495	24537495	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:24537495C>G	ENST00000264463.4	-	3	1027	c.520G>C	c.(520-522)Gtt>Ctt	p.V174L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	174	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V174L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTACCTACAACAGACATTTCG	0.323000										HNSCC(23;0.051)			28	183					0	0	0.002096	0	0
INPP4B	8821	broad.mit.edu	37	4	143129581	143129581	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:143129581T>A	ENST00000513000.1	-	15	1502	c.1069A>T	c.(1069-1071)Aaa>Taa	p.K357*	INPP4B_ENST00000308502.4_Nonsense_Mutation_p.K357*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.K357*|INPP4B_ENST00000508116.1_Nonsense_Mutation_p.K357*|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.K357*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	357					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.K357*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATGATACCTTTCAAGTGAGGG	0.328000													8	67					0	0	0.004482	0	0
SLC39A12	221074	broad.mit.edu	37	10	18331687	18331687	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:18331687G>T	ENST00000377369.2	+	13	2274	c.2001G>T	c.(1999-2001)ctG>ctT	p.L667L	SLC39A12_ENST00000377371.3_Silent_p.L666L|SLC39A12_ENST00000377374.4_Silent_p.L630L|SLC39A12_ENST00000539911.1_Silent_p.L533L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	667					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.L630L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGTTTCTCCTGCAAAACTTTG	0.343000													26	74					6.00712e-18	9.17009e-18	0.002445	1	0
SRGAP1	57522	broad.mit.edu	37	12	64456851	64456851	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:64456851T>C	ENST00000355086.3	+	7	1480	c.956T>C	c.(955-957)aTg>aCg	p.M319T	SRGAP1_ENST00000543397.1_Missense_Mutation_p.M279T|SRGAP1_ENST00000357825.3_Missense_Mutation_p.M319T|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	319					axon guidance	cytosol		p.M319T(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGAGATTCATGGAGATGTAC	0.413000													64	62					0	0	0.003610	0	0
USP51	158880	broad.mit.edu	37	X	55514858	55514858	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:55514858C>A	ENST00000500968.3	-	2	597	c.515G>T	c.(514-516)gGg>gTg	p.G172V	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	172					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.G172V(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCCCCCGACCCGTCTAGGTC	0.652000													4	35					2.7689e-08	3.49873e-08	0.001984	1	0
FPR2	2358	broad.mit.edu	37	19	52272376	52272376	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:52272376C>A	ENST00000598776.1	+	2	1237	c.465C>A	c.(463-465)gtC>gtA	p.V155V	FPR2_ENST00000340023.6_Silent_p.V155V|FPR2_ENST00000598953.1_Silent_p.V155V	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	155					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.V155V(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTGCTCTAGTCCTTACCTTGC	0.512000													12	127					2.80697e-09	3.6308e-09	0.000978	1	0
ANAPC2	29882	broad.mit.edu	37	9	140075363	140075363	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:140075363C>A	ENST00000323927.2	-	8	1491	c.1487G>T	c.(1486-1488)cGg>cTg	p.R496L		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	496					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R496L(1)|p.R496Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CGATGAACGCCGCTTGGAGCT	0.652000													69	42					5.71386e-39	9.85056e-39	0.003610	1	0
PDCD2	5134	broad.mit.edu	37	6	170889182	170889182	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:170889182C>T	ENST00000541970.1	-	4	748	c.670G>A	c.(670-672)Gag>Aag	p.E224K	PDCD2_ENST00000542896.1_Missense_Mutation_p.E224K|PDCD2_ENST00000392090.2_Missense_Mutation_p.E191K	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	224					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.E224K(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		AGTTCTTCCTCAAGTGCTTCA	0.388000													5	55					0	0	0.000602	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908217	139908217	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:139908217G>T	ENST00000297183.6	+	29	5810	c.5686G>T	c.(5686-5688)Gtg>Ttg	p.V1896L	ANKHD1_ENST00000544120.1_Missense_Mutation_p.V279L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V1896L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.V1896L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.V1896L(2)		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)			AGTGAGACCTGTGAATCCTGG	0.498000													21	73					3.62473e-10	4.77329e-10	0.001882	1	0
SPTBN1	6711	broad.mit.edu	37	2	54852019	54852019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:54852019G>T	ENST00000333896.5	+	10	1607	c.1222G>T	c.(1222-1224)Gaa>Taa	p.E408*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.E421*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	421					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.E421*(1)|p.E408*(1)		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)			GGAGAAACTGGAACAGCTCGC	0.483000													30	45					2.48696e-23	4.033e-23	0.003271	1	0
GFI1	2672	broad.mit.edu	37	1	92941703	92941703	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:92941703G>A	ENST00000370332.1	-	7	1470	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	GFI1_ENST00000294702.5_Silent_p.I384I|GFI1_ENST00000427103.1_Silent_p.I384I	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	384					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.I384I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GGCTGTGGGTGATGAGGTTGG	0.607000													4	13					0	0	0.009096	0	0
LRTM1	57408	broad.mit.edu	37	3	54958983	54958983	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:54958983C>A	ENST00000273286.5	-	2	429	c.267G>T	c.(265-267)ctG>ctT	p.L89L	LRTM1_ENST00000493075.1_Silent_p.L13L|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	89						integral to membrane		p.L89L(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTCCAGGGGCCAGATTTGAAA	0.443000													6	61					5.9392e-07	7.11792e-07	0.001168	1	0
LRRC43	254050	broad.mit.edu	37	12	122669147	122669147	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:122669147G>A	ENST00000339777.4	+	2	260	c.232G>A	c.(232-234)Gag>Aag	p.E78K	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	78								p.E78K(1)		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)		GAGCCCCGGAGAGGAGACGGT	0.597000													4	31					0	0	0.000602	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043307	71043307	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:71043307G>A	ENST00000272367.2	-	4	1282	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	CLEC4F_ENST00000426626.1_Silent_p.A402A	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	402					endocytosis	integral to membrane	receptor activity|sugar binding	p.A402A(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GGGAAGTTAAGGCTGAAGCAT	0.443000													9	89					0	0	0.008291	0	0
BCAN	63827	broad.mit.edu	37	1	156617860	156617860	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:156617860G>T	ENST00000329117.4	+	5	1063	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.D243Y	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	243	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.D243Y(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTGGACCCGGATGACCTCTA	0.547000													122	162					7.84169e-52	1.37136e-51	0.003610	1	0
CNTN4	152330	broad.mit.edu	37	3	3078979	3078979	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:3078979C>A	ENST00000397461.1	+	17	2443	c.2059C>A	c.(2059-2061)Cgc>Agc	p.R687S	CNTN4_ENST00000397459.2_Missense_Mutation_p.R359S|CNTN4_ENST00000448906.2_Missense_Mutation_p.R359S|CNTN4_ENST00000358480.3_Missense_Mutation_p.R468S|CNTN4_ENST00000418658.1_Missense_Mutation_p.R687S|CNTN4_ENST00000427331.1_Missense_Mutation_p.R687S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	687	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.R359S(1)|p.R687S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGAGCCCAGCCGCCCCTCAGA	0.522000													38	274					3.09479e-21	4.91657e-21	0.006999	1	0
MYO18A	399687	broad.mit.edu	37	17	27493336	27493336	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:27493336G>A	ENST00000527372.1	-	2	803	c.623C>T	c.(622-624)cCc>cTc	p.P208L	MYO18A_ENST00000354329.4_Missense_Mutation_p.P208L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P208L|MYO18A_ENST00000531253.1_Missense_Mutation_p.P208L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	208					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.P208L(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CACCACGGGGGGCAGGCGCAG	0.667000													14	92					0	0	0.004990	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561457	145561457	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:145561457C>T	ENST00000355594.4	+	10	1232	c.1145C>T	c.(1144-1146)aCa>aTa	p.T382I		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	382								p.T382I(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTGAGAGTACACAAGAGCTA	0.547000													18	40					0	0	0.008871	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985049	157985049	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:157985049G>C	ENST00000389413.3	-	5	622	c.519C>G	c.(517-519)acC>acG	p.T173T	PTPRN2_ENST00000409483.1_Silent_p.T135T|PTPRN2_ENST00000404321.2_Silent_p.T196T|PTPRN2_ENST00000389416.4_Silent_p.T156T|PTPRN2_ENST00000389418.4_Silent_p.T173T	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	173						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T173T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCGCCGTATGGGTCCTGGCGA	0.692000													28	55					0	0	0.003755	0	0
PCED1B	91523	broad.mit.edu	37	12	47629393	47629393	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:47629393C>A	ENST00000546455.1	+	4	1278	c.547C>A	c.(547-549)Cgg>Agg	p.R183R	PCED1B_ENST00000432328.1_Silent_p.R183R					PC-esterase domain containing 1B									p.R183R(1)									CAAGCTCCGGCGGCAGAAGGC	0.587000													23	23					2.89027e-11	3.9049e-11	0.002299	1	0
KHDRBS2	202559	broad.mit.edu	37	6	62611152	62611152	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:62611152G>A	ENST00000281156.4	-	5	886	c.608C>T	c.(607-609)tCa>tTa	p.S203L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.S203L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AATGTACCTTGAAGGAGCTGT	0.403000													15	120					0	0	0.004007	0	0
OR4K5	79317	broad.mit.edu	37	14	20389719	20389719	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:20389719G>T	ENST00000315915.4	+	1	979	c.954G>T	c.(952-954)gtG>gtT	p.V318V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V318V(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTAGTAGTGAGAACTTCCT	0.353000													6	73					0.00116845	0.00125453	0.001168	1	0
POLR2H	5437	broad.mit.edu	37	3	184082795	184082795	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:184082795C>G	ENST00000456318.1	+	3	1164	c.115C>G	c.(115-117)Cta>Gta	p.L39V	POLR2H_ENST00000429568.1_Missense_Mutation_p.L39V|POLR2H_ENST00000296223.3_Missense_Mutation_p.L39V|POLR2H_ENST00000452961.1_Missense_Mutation_p.L3V|POLR2H_ENST00000438240.1_Missense_Mutation_p.L3V|POLR2H_ENST00000430783.1_Missense_Mutation_p.L39V|POLR2H_ENST00000443489.1_Missense_Mutation_p.L3V|EIF2B5_ENST00000444495.1_Intron	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	39					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.L39V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGATGGATCTAATCTTAGA	0.398000													13	80					0	0	0.002450	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507233	71507233	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:71507233G>T	ENST00000528685.1	+	3	330	c.330G>T	c.(328-330)ccG>ccT	p.P110P	FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						ACGCCCACCCGGGCCTGCATG	0.617000													67	142					1.1397e-45	1.98676e-45	0.003610	1	0
CHRNB2	1141	broad.mit.edu	37	1	154544111	154544111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:154544111C>A	ENST00000368476.3	+	5	1076	c.812C>A	c.(811-813)tCa>tAa	p.S271*		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	271					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.S271*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TTGTGCATCTCAGTGCTGCTG	0.577000													34	211					4.11147e-13	5.83616e-13	0.003755	1	0
SETBP1	26040	broad.mit.edu	37	18	42618459	42618459	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:42618459G>T	ENST00000282030.5	+	5	4306	c.4010G>T	c.(4009-4011)aGt>aTt	p.S1337I		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1337						nucleus	DNA binding	p.S1337I(1)|p.S1283I(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGGATGCCAAGTCCCCACTTA	0.468000									Schinzel-Giedion syndrome				14	61					6.31663e-08	7.85446e-08	0.003163	1	0
TMC7	79905	broad.mit.edu	37	16	19070736	19070736	+	Splice_Site	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:19070736A>T	ENST00000421369.3	+	15	2255		c.e15-1		TMC7_ENST00000569532.1_Splice_Site|TMC7_ENST00000304381.5_Splice_Site	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7							integral to membrane		p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTTGTGTTGCAGCCTCATCAT	0.458000													39	147					0	0	0.008740	0	0
HORMAD1	84072	broad.mit.edu	37	1	150689711	150689711	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:150689711C>A	ENST00000368993.2	-	3	186	c.81G>T	c.(79-81)ttG>ttT	p.L27F	HORMAD1_ENST00000322343.7_Missense_Mutation_p.L27F|HORMAD1_ENST00000368995.4_5'UTR|HORMAD1_ENST00000361824.2_Missense_Mutation_p.L27F|HORMAD1_ENST00000476530.1_5'UTR			Q86X24	HORM1_HUMAN	HORMA domain containing 1	27	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		p.L27_V28>FL(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCACTAACACCAAAGACTGGT	0.348000													16	222					2.39187e-15	3.5186e-15	0.008871	1	0
LY75	4065	broad.mit.edu	37	2	160728993	160728993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:160728993C>A	ENST00000263636.4	-	13	2113	c.2086G>T	c.(2086-2088)Gaa>Taa	p.E696*	LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.E696*|LY75_ENST00000553424.1_Nonsense_Mutation_p.E696*|LY75_ENST00000554112.1_Nonsense_Mutation_p.E696*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.E696*	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.E696*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGAAGAAATTCCTTTATTTCA	0.373000													15	179					0.000219431	0.000242017	0.002450	1	0
ZNF257	113835	broad.mit.edu	37	19	22272135	22272135	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:22272135C>T	ENST00000594947.1	+	4	1727	c.1583C>T	c.(1582-1584)tCa>tTa	p.S528L		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S528L(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATCGTTTCTCATACCTTACC	0.388000													5	31					0	0	0.000602	0	0
OR5M9	390162	broad.mit.edu	37	11	56230358	56230358	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:56230358G>T	ENST00000279791.1	-	1	519	c.520C>A	c.(520-522)Cac>Aac	p.H174N		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H174N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CAATAGAAGTGATTGATTTCA	0.408000													32	50					6.90743e-12	9.60537e-12	0.003755	1	0
RRM1	6240	broad.mit.edu	37	11	4132861	4132861	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:4132861A>C	ENST00000300738.5	+	6	682	c.478A>C	c.(478-480)Aat>Cat	p.N160H	RRM1_ENST00000423050.2_Missense_Mutation_p.N63H	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	160					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	p.N160H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GTTGAAGATCAATGGAAAAGG	0.333000													23	55					0	0	0.006320	0	0
MSLN	10232	broad.mit.edu	37	16	814999	814999	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:814999A>T	ENST00000566549.1	+	7	890	c.473A>T	c.(472-474)gAg>gTg	p.E158V	MSLN_ENST00000382862.3_Missense_Mutation_p.E158V|MSLN_ENST00000563941.1_Missense_Mutation_p.E158V|MSLN_ENST00000545450.2_Missense_Mutation_p.E158V			Q13421	MSLN_HUMAN	mesothelin	158					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		p.E158V(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGGGCTCCCGAGCGACAGCGG	0.701000													4	14					0	0	0.000978	0	0
RAD54L	8438	broad.mit.edu	37	1	46727024	46727024	+	Silent	SNP	G	G	A	rs58878309		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:46727024G>A	ENST00000371975.4	+	8	1532	c.858G>A	c.(856-858)caG>caA	p.Q286Q	RAD54L_ENST00000442598.1_Silent_p.Q286Q	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	286	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.Q286Q(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GAGTCCTCCAGAAAGGAAGTG	0.483000								Direct reversal of damage;Homologous recombination					10	78					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9046491	9046491	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9046491C>T	ENST00000397910.4	-	5	35343	c.35140G>A	c.(35140-35142)Gat>Aat	p.D11714N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11716	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D11714Y(1)|p.D7347N(1)|p.D7347Y(1)|p.D11714N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGTGGCATCTGGACTACTA	0.507000													23	85					0	0	0.003330	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323236	61323236	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:61323236T>A	ENST00000283752.5	-	8	971	c.828A>T	c.(826-828)agA>agT	p.R276S	SERPINB3_ENST00000332821.8_Missense_Mutation_p.R224S|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	276					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.R276S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CACGTGTCTCTCTCATATTCT	0.403000													38	31					0	0	0.007835	0	0
FBN3	84467	broad.mit.edu	37	19	8194190	8194190	+	Silent	SNP	G	G	T	rs150195254		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:8194190G>T	ENST00000600128.1	-	17	2518	c.2104C>A	c.(2104-2106)Cgg>Agg	p.R702R	FBN3_ENST00000601739.1_Silent_p.R702R|FBN3_ENST00000270509.2_Silent_p.R702R			Q75N90	FBN3_HUMAN	fibrillin 3	702	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R702R(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TAGCTGCCCCGAAGGTTCTCG	0.617000													16	43					1.50039e-11	2.04991e-11	0.001882	1	0
ANAPC2	29882	broad.mit.edu	37	9	140075364	140075364	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:140075364G>A	ENST00000323927.2	-	8	1490	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	496					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R496L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GATGAACGCCGCTTGGAGCTC	0.647000													69	41					0	0	0.003610	0	0
ATP2B4	493	broad.mit.edu	37	1	203693068	203693068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:203693068G>T	ENST00000357681.5	+	19	4207	c.3084G>T	c.(3082-3084)caG>caT	p.Q1028H	ATP2B4_ENST00000367218.3_Missense_Mutation_p.Q1028H|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Q1016H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Q1028H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1028					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.Q1028H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCTGTCTCAGTGGCTGTGGT	0.532000													102	113					4.13896e-67	7.28483e-67	0.003610	1	0
GPR116	221395	broad.mit.edu	37	6	46826211	46826211	+	Silent	SNP	C	C	A	rs142588297	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:46826211C>A	ENST00000283296.7	-	17	3717	c.3429G>T	c.(3427-3429)tcG>tcT	p.S1143S	GPR116_ENST00000456426.2_Silent_p.S1001S|GPR116_ENST00000265417.7_Silent_p.S1143S|GPR116_ENST00000362015.4_Silent_p.S1143S|GPR116_ENST00000545669.1_Silent_p.S572S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1143S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCGTGATGACCGAGATGGCAA	0.552000													14	32					4.3838e-07	5.28279e-07	0.001855	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140615835	140615835	+	RNA	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140615835C>T	ENST00000526308.1	+	0	1898					NR_001281.1													p.A517V(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AACGGCTCGGCGCCCTGCACC	0.716000													9	24					0	0	0.006214	0	0
RYR2	6262	broad.mit.edu	37	1	237893570	237893570	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:237893570G>C	ENST00000366574.2	+	77	11166	c.10849G>C	c.(10849-10851)Gtc>Ctc	p.V3617L	RYR2_ENST00000360064.6_Missense_Mutation_p.V3615L|RYR2_ENST00000542537.1_Missense_Mutation_p.V3601L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3617					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V3615L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCATCGGGCTGTCAATCTCTT	0.333000													6	37					0	0	0.003080	0	0
KIDINS220	57498	broad.mit.edu	37	2	8930077	8930077	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:8930077G>A	ENST00000256707.3	-	14	1735	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	KIDINS220_ENST00000418530.1_Silent_p.F476F|KIDINS220_ENST00000427284.1_Silent_p.F518F|KIDINS220_ENST00000473731.1_Silent_p.F518F|KIDINS220_ENST00000319688.5_Silent_p.F519F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	518	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.F518F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGTGGACCGTGAAGGCAAACA	0.413000													11	133					0	0	0.001368	0	0
CPED1	79974	broad.mit.edu	37	7	120876814	120876814	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:120876814C>A	ENST00000310396.5	+	17	2569	c.2102C>A	c.(2101-2103)cCt>cAt	p.P701H	CPED1_ENST00000423795.1_Missense_Mutation_p.P481H|CPED1_ENST00000450913.2_Missense_Mutation_p.P701H	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.P701H(1)									GGGTTACAGCCTATTTCTTCT	0.358000													12	87					1.5842e-08	2.01575e-08	0.001855	1	0
PALLD	23022	broad.mit.edu	37	4	169632897	169632897	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:169632897G>A	ENST00000335742.7	+	10	1998	c.641G>A	c.(640-642)aGg>aAg	p.R214K	PALLD_ENST00000261509.6_Missense_Mutation_p.R596K|PALLD_ENST00000505667.1_Missense_Mutation_p.R596K|PALLD_ENST00000512127.1_Missense_Mutation_p.R214K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	596					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.R596K(1)|p.R214K(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGCCTGAGCAGGGCAGCCCTT	0.512000									Pancreatic Cancer, Familial Clustering of				21	36					0	0	0.001882	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237095	140237095	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140237095C>A	ENST00000307360.5	+	1	1462	c.1462C>A	c.(1462-1464)Ctg>Atg	p.L488M	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.L488M	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.L488M(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACGCCCTGGTGTCCTA	0.667000													35	35					3.77016e-25	6.17809e-25	0.003214	1	0
SNIP1	79753	broad.mit.edu	37	1	38019721	38019721	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:38019721T>A	ENST00000296215.6	-	1	182	c.110A>T	c.(109-111)gAa>gTa	p.E37V	SNIP1_ENST00000468040.1_Intron	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	37					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.E37V(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AGGTGCGACTTCTGGGCTGAG	0.741000													15	24					0	0	0.003163	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76019533	76019533	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:76019533C>G	ENST00000275560.3	-	11	1918	c.1571G>C	c.(1570-1572)gGc>gCc	p.G524A	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	524	SRCR 4.					extracellular region|membrane	scavenger receptor activity	p.G524A(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GTGAGCCTCGCCAGGGGCTGC	0.657000													8	95					0	0	0.004482	0	0
NLRP3	114548	broad.mit.edu	37	1	247587214	247587214	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:247587214C>T	ENST00000366497.2	+	4	1249	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	NLRP3_ENST00000366496.2_Missense_Mutation_p.R157C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.R157C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157C|NLRP3_ENST00000348069.2_Missense_Mutation_p.R157C|NLRP3_ENST00000336119.3_Missense_Mutation_p.R157C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	157					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.R157C(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGGAATGCCCGTCTGGGTGA	0.517000													3	28					0	0	0.009096	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151413614	151413614	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:151413614G>T	ENST00000367321.3	+	27	3133	c.2859G>T	c.(2857-2859)atG>atT	p.M953I	RP1-292B18.4_ENST00000415477.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	953	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	p.M953I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGAGCACCATGCCAGGACTGC	0.458000													29	94					2.65835e-16	3.96395e-16	0.007291	1	0
PRAMEF2	65122	broad.mit.edu	37	1	12919018	12919018	+	Missense_Mutation	SNP	C	C	A	rs150885452	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:12919018C>A	ENST00000240189.2	+	2	241	c.154C>A	c.(154-156)Ctg>Atg	p.L52M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	52								p.L52M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCAGACTCTGACGGTGAT	0.577000													33	106					9.39024e-22	1.50271e-21	0.009718	1	0
CR1L	1379	broad.mit.edu	37	1	207871002	207871002	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:207871002C>G	ENST00000508064.2	+	6	1077	c.1017C>G	c.(1015-1017)agC>agG	p.S339R	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	339	Sushi 5.					cytoplasm|extracellular region|membrane		p.S347R(1)|p.S339R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAGACTGGAGCCCTGCAGCCC	0.502000													38	292					0	0	0.008740	0	0
HK2	3099	broad.mit.edu	37	2	75118049	75118049	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:75118049G>T	ENST00000290573.2	+	18	3335	c.2735G>T	c.(2734-2736)cGt>cTt	p.R912L	HK2_ENST00000409174.1_Missense_Mutation_p.R884L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	912	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R912L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGCCGCATCCGTGAGGCTGGA	0.542000													29	25					3.90053e-15	5.71485e-15	0.002445	1	0
AQR	9716	broad.mit.edu	37	15	35168171	35168171	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:35168171G>T	ENST00000156471.5	-	28	3427	c.3202C>A	c.(3202-3204)Ctg>Atg	p.L1068M		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1068						catalytic step 2 spliceosome	RNA binding	p.L1068M(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTATCTCCAGAATCTGAGCA	0.353000													8	41					0.000274275	0.000300083	0.004482	1	0
PTH2R	5746	broad.mit.edu	37	2	209345847	209345847	+	Missense_Mutation	SNP	G	G	T	rs151296979		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:209345847G>T	ENST00000272847.2	+	10	1247	c.1034G>T	c.(1033-1035)tGg>tTg	p.W345L	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	345						integral to plasma membrane	parathyroid hormone receptor activity	p.W345L(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ACCAAAATCTGGGAGACCAAT	0.358000													17	85					1.9806e-07	2.42962e-07	0.002299	1	0
FLT4	2324	broad.mit.edu	37	5	180057260	180057260	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:180057260C>A	ENST00000261937.6	-	4	556	c.478G>T	c.(478-480)Gtg>Ttg	p.V160L	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.V160L|FLT4_ENST00000502649.1_Missense_Mutation_p.V160L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	160	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.V160L(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGATGGACACCAGACAGGGC	0.622000													10	55					6.40141e-05	7.1909e-05	0.000978	1	0
KIF2B	84643	broad.mit.edu	37	17	51902231	51902231	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:51902231G>T	ENST00000268919.4	+	1	1993	c.1837G>T	c.(1837-1839)Ggg>Tgg	p.G613W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	613					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.G613W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CACAATTTCAGGGAAGGGATC	0.418000													12	157					0.00136819	0.00146611	0.001368	1	0
SURF6	6838	broad.mit.edu	37	9	136198874	136198874	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:136198874C>T	ENST00000372022.4	-	5	1182	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	306						granular component	DNA binding|RNA binding	p.R306Q(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CTTCTCCCACCGGCGCTGCCG	0.711000													9	24					0	0	0.001368	0	0
CA13	377677	broad.mit.edu	37	8	86171659	86171659	+	Missense_Mutation	SNP	G	G	T	rs151178960	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:86171659G>T	ENST00000321764.3	+	3	547	c.245G>T	c.(244-246)gGt>gTt	p.G82V	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	82					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.G82V(1)		large_intestine(1)|lung(6)	7						GTTCTGCGTGGTGGTCCTCTC	0.453000													14	207					1.40151e-16	2.10708e-16	0.010504	1	0
ATG2A	23130	broad.mit.edu	37	11	64665575	64665575	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:64665575C>A	ENST00000421419.2	-	34	4961	c.4847G>T	c.(4846-4848)gGg>gTg	p.G1616V	ATG2A_ENST00000377264.3_Missense_Mutation_p.G1614V			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1614							protein binding	p.G1614V(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGAGGTCTCCCCTGGGACCAC	0.622000											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	156					0.000566183	0.000616373	0.004990	1	0
SPHK1	8877	broad.mit.edu	37	17	74382929	74382929	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:74382929G>A	ENST00000545180.1	+	8	1226	c.417G>A	c.(415-417)acG>acA	p.T139T	SPHK1_ENST00000590959.1_Silent_p.T153T|SPHK1_ENST00000323374.4_Silent_p.T225T|SPHK1_ENST00000592299.1_Silent_p.T139T|SPHK1_ENST00000392496.3_Silent_p.T139T			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	139	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	p.T225T(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						CCAACTGCACGCTATTGCTGT	0.607000													18	193					0	0	0.008871	0	0
CPA6	57094	broad.mit.edu	37	8	68346330	68346330	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:68346330C>A	ENST00000297770.4	-	9	1199	c.984G>T	c.(982-984)caG>caT	p.Q328H	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	328					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.Q328H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ACAGTAACATCTGAGCATATG	0.413000													17	188					7.07596e-05	7.93233e-05	0.006122	1	0
GRIA2	2891	broad.mit.edu	37	4	158257770	158257770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:158257770G>A	ENST00000296526.7	+	11	2040	c.1715G>A	c.(1714-1716)tGg>tAg	p.W572*	GRIA2_ENST00000507898.1_Nonsense_Mutation_p.W525*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.W525*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.W525*|GRIA2_ENST00000264426.9_Nonsense_Mutation_p.W572*	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	572					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.W572*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CCCTACGAGTGGCACACTGAG	0.413000													18	104					0	0	0.007413	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74206175	74206175	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:74206175C>A	ENST00000286523.5	-	2	1319	c.537G>T	c.(535-537)gtG>gtT	p.V179V	ELMSAN1_ENST00000394071.2_Silent_p.V179V	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1									p.V179V(1)									TCATTGGTCGCACATAGCGGT	0.617000													18	113					3.51602e-12	4.90179e-12	0.008871	1	0
RAB41	347517	broad.mit.edu	37	X	69502146	69502146	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:69502146C>A	ENST00000374473.2	+	1	125	c.79C>A	c.(79-81)Cag>Aag	p.Q27K	RAB41_ENST00000276066.4_Missense_Mutation_p.Q27K			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	27					protein transport|small GTPase mediated signal transduction		GTP binding	p.Q27K(1)		breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						AACGGAATACCAGTCTCTGTG	0.547000													20	88					8.34094e-07	9.89863e-07	0.008871	1	0
ABI2	10152	broad.mit.edu	37	2	204193298	204193298	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:204193298G>C	ENST00000295851.4	+	1	357	c.61G>C	c.(61-63)Gac>Cac	p.D21H	RP11-363J17.1_ENST00000469747.2_RNA|ABI2_ENST00000430418.1_Missense_Mutation_p.D21H|ABI2_ENST00000261017.5_Missense_Mutation_p.D21H|ABI2_ENST00000424558.1_Missense_Mutation_p.D21H|ABI2_ENST00000422511.2_Missense_Mutation_p.D21H|ABI2_ENST00000261016.6_5'UTR			Q9NYB9	ABI2_HUMAN	abl-interactor 2	21					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	p.D21H(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GGCCCTCTTCGACAGCTACAC	0.632000													3	42					0	0	0.004672	0	0
ROBO4	54538	broad.mit.edu	37	11	124765005	124765005	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:124765005T>C	ENST00000306534.3	-	7	1606	c.1121A>G	c.(1120-1122)aAc>aGc	p.N374S	ROBO4_ENST00000533054.1_Missense_Mutation_p.N229S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	374	Fibronectin type-III 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.N374S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCCATTGTGGTTTTCAGCAGG	0.557000													5	60					0	0	0.001984	0	0
SEMA3E	9723	broad.mit.edu	37	7	83036465	83036465	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:83036465T>A	ENST00000307792.3	-	7	1228	c.761A>T	c.(760-762)gAg>gTg	p.E254V	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E194V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	254	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.E254V(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTTTTCTGCCTCCAGTGCCTT	0.413000													26	61					0	0	0.005443	0	0
RETNLB	84666	broad.mit.edu	37	3	108474748	108474748	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:108474748C>A	ENST00000295755.6	-	3	411	c.213G>T	c.(211-213)atG>atT	p.M71I	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	71					cell proliferation	extracellular region	hormone activity	p.M71I(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CAGTGACAGCCATCCCTGCAT	0.552000													13	64					7.01153e-11	9.36871e-11	0.007291	1	0
TGM4	7047	broad.mit.edu	37	3	44943063	44943063	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:44943063G>T	ENST00000296125.4	+	7	773	c.705G>T	c.(703-705)ggG>ggT	p.G235G		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	235					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G235G(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTGGACTGGGGACTACGAAG	0.582000													4	31					0.000602214	0.000652996	0.000602	1	0
TFPI	7035	broad.mit.edu	37	2	188331706	188331706	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:188331706C>A	ENST00000233156.3	-	8	1166	c.872G>T	c.(871-873)aGa>aTa	p.R291I	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.R291I|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	291					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R291I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TATTTTCACTCTCTGCTTCTT	0.254000													3	16					0.004672	0.00491955	0.004672	1	0
SCN1A	6323	broad.mit.edu	37	2	166903468	166903468	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:166903468T>A	ENST00000423058.2	-	9	1206	c.1189A>T	c.(1189-1191)Aaa>Taa	p.K397*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.K397*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.K397*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.K397*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	397						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K397*(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATGTACGTTTTCCCAGCAGCA	0.368000													27	123					0	0	0.005443	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581208	101581208	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:101581208C>A	ENST00000536262.2	-	7	1477	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	307					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.D307Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGATCACAGTCATGGTACCTG	0.428000													32	39					2.87052e-16	4.26868e-16	0.005524	1	0
KRT39	390792	broad.mit.edu	37	17	39118699	39118699	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:39118699G>T	ENST00000355612.2	-	4	860	c.825C>A	c.(823-825)atC>atA	p.I275I	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	275	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.I275I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TTGTCTCCATGATGGGCTCAT	0.468000													152	554					1.11308e-80	1.96225e-80	0.003610	1	0
NETO1	81832	broad.mit.edu	37	18	70451078	70451078	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:70451078C>A	ENST00000327305.6	-	7	1360	c.703G>T	c.(703-705)Gct>Tct	p.A235S	NETO1_ENST00000299430.2_Missense_Mutation_p.A234S|NETO1_ENST00000583169.1_Missense_Mutation_p.A235S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	235	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.A235S(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCATACACAGCCACAAAATTC	0.393000													92	88					1.53058e-52	2.68096e-52	0.003610	1	0
PADI4	23569	broad.mit.edu	37	1	17668497	17668497	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:17668497C>T	ENST00000375448.4	+	7	738	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	238					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.L238L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTCTCACTACCTGATGGTCCC	0.607000													12	45					0	0	0.001368	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323753	107323753	+	Missense_Mutation	SNP	G	G	T	rs138816005	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:107323753G>T	ENST00000265715.3	+	7	1096	c.872G>T	c.(871-873)cGg>cTg	p.R291L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	291					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.R291L(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTAAATGATCGGTTTAGACAC	0.358000									Pendred syndrome				28	239					7.63215e-27	1.25821e-26	0.009535	1	0
CDH17	1015	broad.mit.edu	37	8	95164334	95164334	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:95164334C>G	ENST00000027335.3	-	13	1682	c.1558G>C	c.(1558-1560)Gat>Cat	p.D520H	CDH17_ENST00000441892.2_Missense_Mutation_p.D306H|CDH17_ENST00000450165.2_Missense_Mutation_p.D520H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	520	Cadherin 5.					integral to membrane	calcium ion binding	p.D520H(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTTTCAAAATCAAGAGGCTGT	0.373000													14	148					0	0	0.006122	0	0
GRIK3	2899	broad.mit.edu	37	1	37324781	37324781	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:37324781G>T	ENST00000373091.3	-	7	1048	c.1032C>A	c.(1030-1032)acC>acA	p.T344T	GRIK3_ENST00000373093.4_Silent_p.T344T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	344					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.T344T(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGGAGTTCACGGTCATCTGTG	0.622000													23	146					5.35356e-11	7.17088e-11	0.002780	1	0
ATP2B2	491	broad.mit.edu	37	3	10417183	10417183	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:10417183C>A	ENST00000397077.1	-	10	1787	c.1212G>T	c.(1210-1212)acG>acT	p.T404T	ATP2B2_ENST00000352432.4_Silent_p.T449T|ATP2B2_ENST00000343816.4_Silent_p.T435T|ATP2B2_ENST00000360273.2_Silent_p.T449T|ATP2B2_ENST00000383800.4_Silent_p.T404T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	449					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.T449T(1)|p.T404T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCACCAGCACCGTCACGCCAA	0.612000													22	85					2.32416e-17	3.52331e-17	0.002299	1	0
NRXN1	9378	broad.mit.edu	37	2	50733708	50733708	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:50733708C>G	ENST00000404971.1	-	14	3881	c.2542G>C	c.(2542-2544)Gag>Cag	p.E848Q	NRXN1_ENST00000406316.2_Missense_Mutation_p.E808Q|NRXN1_ENST00000405472.3_Missense_Mutation_p.E800Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.E808Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.E800Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.E808Q	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	808	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.E808Q(1)|p.E848Q(1)|p.E849Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTGTGCCACTCGTTATCATTG	0.443000													10	14					0	0	0.001368	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432667	140432667	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140432667G>T	ENST00000306549.3	+	1	1689	c.1612G>T	c.(1612-1614)Ggc>Tgc	p.G538C		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		538	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G538C(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTGATGGGGGCTTCCTGTC	0.453000													19	64					1.00905e-13	1.44926e-13	0.008871	1	0
MYH3	4621	broad.mit.edu	37	17	10555781	10555781	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:10555781C>T	ENST00000583535.1	-	4	391	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	MYH3_ENST00000226209.7_Missense_Mutation_p.V102M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	102	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V102M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGTACAGCACGGCTGGCTCA	0.557000													32	80					0	0	0.003271	0	0
ALPPL2	251	broad.mit.edu	37	2	233272591	233272591	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:233272591A>C	ENST00000295453.3	+	5	564	c.512A>C	c.(511-513)cAg>cCg	p.Q171P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	171					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.Q171P(1)		breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	ACACGGGTGCAGCATGCCTCG	0.652000													7	51					0	0	0.001984	0	0
PKN3	29941	broad.mit.edu	37	9	131479051	131479051	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:131479051G>C	ENST00000291906.4	+	16	2227	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	612	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	p.E612Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCGGATCCTGGAGGCTGTGGG	0.587000													22	174					0	0	0.003330	0	0
COL7A1	1294	broad.mit.edu	37	3	48613683	48613683	+	Splice_Site	SNP	G	G	T	rs149267939	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:48613683G>T	ENST00000328333.8	-	70	5926	c.5820_splice	c.e70+1	p.P1940_splice	COL7A1_ENST00000454817.1_Splice_Site_p.P1908_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1940	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1940Q(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGCTCACCGGCACACTTCC	0.597000													6	49					3.59834e-05	4.0588e-05	0.001168	1	0
CYP4Z1	199974	broad.mit.edu	37	1	47582406	47582406	+	Splice_Site	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:47582406T>A	ENST00000334194.3	+	11	1352		c.e11+2		CYP4Z1_ENST00000471598.1_Splice_Site|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1							endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.?(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGGATTAAGGTAAAGACTCAA	0.428000													5	34					0	0	0.001168	0	0
UNC5B	219699	broad.mit.edu	37	10	73050706	73050706	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:73050706G>T	ENST00000335350.6	+	9	1550	c.1134G>T	c.(1132-1134)gcG>gcT	p.A378A	UNC5B_ENST00000373192.4_Silent_p.A367A	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	378					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.A378A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CGCTGTATGCGGGGCTCGTGG	0.657000													46	245					1.17673e-23	1.91393e-23	0.003610	1	0
SALL1	6299	broad.mit.edu	37	16	51174165	51174165	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:51174165G>T	ENST00000440970.1	-	2	2108	c.1677C>A	c.(1675-1677)acC>acA	p.T559T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.T656T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	656					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T656T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGTGAAGGTGGTGGCACTGC	0.612000													14	85					4.7546e-09	6.12106e-09	0.004007	1	0
DNAH6	1768	broad.mit.edu	37	2	84800703	84800703	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:84800703A>T	ENST00000389394.3	+	12	2053	c.1916A>T	c.(1915-1917)cAg>cTg	p.Q639L	DNAH6_ENST00000398278.2_Missense_Mutation_p.Q639L|DNAH6_ENST00000237449.6_Missense_Mutation_p.Q639L	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	639	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q639L(1)|p.Q218L(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTTAAACTTCAGGAACCTGGT	0.378000													16	130					0	0	0.006122	0	0
KRT28	162605	broad.mit.edu	37	17	38953178	38953178	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:38953178A>G	ENST00000306658.7	-	5	1033	c.968T>C	c.(967-969)cTg>cCg	p.L323P		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	323	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.L323P(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGTGGCCATCAGGGACTGCAG	0.577000													3	144					0	0	0.009096	0	0
COL3A1	1281	broad.mit.edu	37	2	189868724	189868724	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:189868724C>T	ENST00000304636.3	+	39	2848	c.2678C>T	c.(2677-2679)cCa>cTa	p.P893L	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	893	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.P893L(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAGGACCCCCAGGTCCCAGC	0.438000													3	47					0	0	0.009096	0	0
PGK2	5232	broad.mit.edu	37	6	49754060	49754060	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:49754060T>A	ENST00000304801.3	-	1	993	c.841A>T	c.(841-843)Act>Tct	p.T281S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	281					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.T281S(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACAGGAAAAGTAATCCTTACA	0.443000													32	284					0	0	0.002445	0	0
NEB	4703	broad.mit.edu	37	2	152534675	152534675	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:152534675C>A	ENST00000397345.3	-	33	3484	c.3282G>T	c.(3280-3282)aaG>aaT	p.K1094N	NEB_ENST00000604864.1_Missense_Mutation_p.K1094N|NEB_ENST00000172853.10_Missense_Mutation_p.K1094N|NEB_ENST00000409198.1_Missense_Mutation_p.K1094N|NEB_ENST00000603639.1_Missense_Mutation_p.K1094N|NEB_ENST00000427231.2_Missense_Mutation_p.K1094N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1094					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.K1094N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCCTTTAGCCTTTTCATAGT	0.363000													4	46					0.00909568	0.00953171	0.009096	1	0
COL3A1	1281	broad.mit.edu	37	2	189870139	189870139	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:189870139G>T	ENST00000304636.3	+	41	3165	c.2995G>T	c.(2995-2997)Ggt>Tgt	p.G999C	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	999	Triple-helical region.		G -> R (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G999C(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGACCCCAGGGTCTTCCTGG	0.458000													20	163					1.50039e-11	2.04991e-11	0.001882	1	0
ENPP7	339221	broad.mit.edu	37	17	77705138	77705138	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:77705138C>A	ENST00000328313.5	+	1	458	c.237C>A	c.(235-237)caC>caA	p.H79Q		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	79					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.H79Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCTGCCACTTCACCCTGG	0.642000													6	26					1.06961e-07	1.327e-07	0.003080	1	0
ASXL3	80816	broad.mit.edu	37	18	31324221	31324221	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:31324221C>A	ENST00000269197.5	+	12	4409	c.4409C>A	c.(4408-4410)cCg>cAg	p.P1470Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P1470Q(2)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGATCAATTCCGTGTAAAGTC	0.517000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	64					1.03484e-13	1.48241e-13	0.005524	1	0
MS4A7	58475	broad.mit.edu	37	11	60152572	60152572	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:60152572C>A	ENST00000300184.3	+	3	355	c.159C>A	c.(157-159)atC>atA	p.I53I	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Intron|MS4A7_ENST00000530234.2_Silent_p.I53I|MS4A7_ENST00000358246.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	53						integral to membrane	receptor activity	p.I53I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CTGTCCAGATCCTGTGTTGCC	0.428000													48	179					5.13769e-22	8.24595e-22	0.003610	1	0
RSPO2	340419	broad.mit.edu	37	8	108972928	108972928	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:108972928G>T	ENST00000276659.5	-	4	1021	c.401C>A	c.(400-402)cCa>cAa	p.P134Q	RSPO2_ENST00000378439.2_Missense_Mutation_p.P71Q|RSPO2_ENST00000517939.1_Missense_Mutation_p.P67Q|RSPO2_ENST00000517781.1_Missense_Mutation_p.P71Q	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	134					Wnt receptor signaling pathway	extracellular region	heparin binding	p.P134Q(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TTCTTCTAATGGTGCAAAACC	0.363000													29	54					1.84765e-07	2.26908e-07	0.003755	1	0
IGF2BP3	10643	broad.mit.edu	37	7	23390963	23390963	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:23390963C>A	ENST00000258729.3	-	6	1000	c.644G>T	c.(643-645)gGt>gTt	p.G215V		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	215	KH 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.G215V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AATGGTGGCACCTTCTTTTCC	0.498000													46	120					1.56793e-16	2.35376e-16	0.003610	1	0
ZNF831	128611	broad.mit.edu	37	20	57769383	57769383	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:57769383G>T	ENST00000371030.2	+	1	3309	c.3309G>T	c.(3307-3309)ctG>ctT	p.L1103L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1103						intracellular	nucleic acid binding|zinc ion binding	p.L1103L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTGGGAGCTGGGGGAGCCTC	0.652000													13	71					3.27435e-08	4.11364e-08	0.002450	1	0
PDHA2	5161	broad.mit.edu	37	4	96761513	96761513	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:96761513G>A	ENST00000295266.4	+	1	275	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	71					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R71H(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACTGTTCGCCGCATGGAATTG	0.507000													10	77					0	0	0.008291	0	0
STK31	56164	broad.mit.edu	37	7	23775440	23775440	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:23775440A>G	ENST00000354639.3	+	7	1162	c.698A>G	c.(697-699)aAg>aGg	p.K233R	STK31_ENST00000428484.1_Missense_Mutation_p.K233R|STK31_ENST00000433467.2_Missense_Mutation_p.K256R|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.K256R	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	256							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.K256R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCAGGCCCAAGGGGCACTTA	0.403000													16	181					0	0	0.004990	0	0
WNT3A	89780	broad.mit.edu	37	1	228210557	228210557	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:228210557C>G	ENST00000284523.1	+	2	339	c.261C>G	c.(259-261)aaC>aaG	p.N87K	WNT3A_ENST00000366753.2_Missense_Mutation_p.N87K	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	87					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	p.N87K(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCGGTGGAACTGCACCACCG	0.637000													7	50					0	0	0.008291	0	0
HSPG2	3339	broad.mit.edu	37	1	22157584	22157584	+	Splice_Site	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:22157584C>G	ENST00000374695.3	-	85	11642		c.e85-1			NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.?(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACCGCCATTCTGCAAAGCAG	0.637000													4	14					0	0	0.009096	0	0
OBSCN	84033	broad.mit.edu	37	1	228486332	228486332	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:228486332A>G	ENST00000570156.2	+	49	13198	c.13124A>G	c.(13123-13125)cAg>cGg	p.Q4375R	OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1065R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3418	Ig-like 45.				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	p.Q4229R(1)|p.Q4130R(1)|p.Q4000R(1)		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)				TGTGAGCTGCAGATCCATGAC	0.577000													33	76					0	0	0.004878	0	0
PLK1	5347	broad.mit.edu	37	16	23695312	23695312	+	Missense_Mutation	SNP	G	G	A	rs146806568		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:23695312G>A	ENST00000300093.4	+	5	1049	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	313					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	p.R313H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		ATCCCTGCCCGTCTCCCCATC	0.542000													43	407					0	0	0.002522	0	0
KCTD16	57528	broad.mit.edu	37	5	143586702	143586702	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:143586702C>A	ENST00000507359.2	+	2	1516	c.425C>A	c.(424-426)gCc>gAc	p.A142D	KCTD16_ENST00000512467.1_Missense_Mutation_p.A142D	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	142						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A142D(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TTTGAAGATGCCTCCCAAGGA	0.537000													29	78					5.91797e-21	9.36084e-21	0.002445	1	0
TMIGD1	388364	broad.mit.edu	37	17	28656342	28656342	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:28656342G>C	ENST00000328886.4	-	3	360	c.288C>G	c.(286-288)gaC>gaG	p.D96E	TMIGD1_ENST00000538566.2_Missense_Mutation_p.D96E	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	96	Ig-like C2-type 1.					integral to membrane		p.D96E(1)		breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TGATTCCGTTGTCATTTTCAC	0.483000													16	105					0	0	0.003163	0	0
PCNX	22990	broad.mit.edu	37	14	71524403	71524403	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:71524403G>C	ENST00000304743.2	+	26	5260	c.4814G>C	c.(4813-4815)gGt>gCt	p.G1605A	PCNX_ENST00000439984.3_Missense_Mutation_p.G1494A|PCNX_ENST00000238570.5_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1605						integral to membrane		p.G1605A(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATAGGCAATGGTCTGGTCACT	0.438000													44	310					0	0	0.003214	0	0
SCYL2	55681	broad.mit.edu	37	12	100676756	100676756	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:100676756C>A	ENST00000360820.2	+	2	445	c.8C>A	c.(7-9)tCc>tAc	p.S3Y	SCYL2_ENST00000550067.1_3'UTR	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	3					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	p.S3Y(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GCCATGGAGTCCATGCTTAAT	0.353000													6	65					8.12818e-05	9.07467e-05	0.001984	1	0
HS3ST3A1	9955	broad.mit.edu	37	17	13503879	13503879	+	Missense_Mutation	SNP	G	G	C	rs78372491		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:13503879G>C	ENST00000284110.1	-	1	1365	c.568C>G	c.(568-570)Cgc>Ggc	p.R190G		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	190	Substrate binding.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	p.R190G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCGTAGCTGCGGTCGAAGAAG	0.716000													3	10					0	0	0.001984	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024011	14024011	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:14024011G>T	ENST00000318003.7	+	5	650	c.409G>T	c.(409-411)Gag>Tag	p.E137*	CC2D1A_ENST00000589606.1_Nonsense_Mutation_p.E137*	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	137					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	p.E137*(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCCGGGGCTGGAGACCACCTT	0.642000													6	11					4.68919e-08	5.85747e-08	0.008291	1	0
GPR139	124274	broad.mit.edu	37	16	20043477	20043477	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:20043477G>T	ENST00000570682.1	-	2	942	c.642C>A	c.(640-642)agC>agA	p.S214R		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	214						integral to membrane|plasma membrane		p.S214R(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GACGAAAATTGCTCTTCCTCC	0.522000													10	94					0.000151284	0.000168043	0.001855	1	0
IGLV3-27	28791	broad.mit.edu	37	22	23011113	23011113	+	RNA	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:23011113G>A	ENST00000390304.2	+	0	214																											CAGAAGCCAGGCCAGGCCCCT	0.572000													58	49					0	0	0.003610	0	0
CLNK	116449	broad.mit.edu	37	4	10502976	10502976	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:10502976C>A	ENST00000226951.6	-	18	1283	c.1044G>T	c.(1042-1044)ttG>ttT	p.L348F	CLNK_ENST00000515667.1_Missense_Mutation_p.L86F	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	348	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	p.L348F(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AAAACACAGCCAAAACATAGG	0.448000													3	26					0.004672	0.00491955	0.004672	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147092811	147092811	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:147092811G>C	ENST00000361727.3	+	10	2125	c.1609G>C	c.(1609-1611)Gca>Cca	p.A537P		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	537	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.A537P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATACGAAGTGGCACAAAGGAA	0.438000										HNSCC(39;0.1)			27	214					0	0	0.007291	0	0
FCN1	2219	broad.mit.edu	37	9	137801797	137801797	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:137801797T>A	ENST00000371806.3	-	9	919	c.828A>T	c.(826-828)ggA>ggT	p.G276G		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	276	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.G276G(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		ACCACCAGGCTCCTTGGAACT	0.498000													23	211					0	0	0.002780	0	0
RRN3	54700	broad.mit.edu	37	16	15165037	15165037	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:15165037C>A	ENST00000198767.6	-	13	1283	c.1200G>T	c.(1198-1200)agG>agT	p.R400S	RRN3_ENST00000540462.1_Missense_Mutation_p.R218S|RRN3_ENST00000327307.7_Missense_Mutation_p.R367S|RRN3_ENST00000429751.2_Missense_Mutation_p.R370S|RRN3_ENST00000563559.1_Missense_Mutation_p.R400S|PDXDC1_ENST00000535621.2_Intron	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	400					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		p.R400S(1)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CAGCAGCCTGCCTGATGATGG	0.398000													29	239					1.88708e-17	2.8647e-17	0.008361	1	0
ASPA	443	broad.mit.edu	37	17	3386869	3386869	+	Missense_Mutation	SNP	T	T	C	rs144321760	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:3386869T>C	ENST00000263080.2	+	3	667	c.509T>C	c.(508-510)aTa>aCa	p.I170T	ASPA_ENST00000456349.2_Missense_Mutation_p.I170T|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	170					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	p.I170T(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	ACTCGTTCCATAGCCAAGTAT	0.373000													20	87					0	0	0.002780	0	0
TSSC1	7260	broad.mit.edu	37	2	3341899	3341899	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:3341899C>A	ENST00000398659.4	-	3	288	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	TSSC1_ENST00000382125.4_Missense_Mutation_p.D50Y|TSSC1_ENST00000443925.2_Missense_Mutation_p.D50Y			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	50							protein binding	p.D50Y(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TTGTTTTCATCGTCAAAATCT	0.403000													27	45					1.42536e-11	1.96211e-11	0.004656	1	0
AJAP1	55966	broad.mit.edu	37	1	4832465	4832465	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:4832465C>A	ENST00000378191.4	+	4	1424	c.1043C>A	c.(1042-1044)aCg>aAg	p.T348K	AJAP1_ENST00000378190.3_Missense_Mutation_p.T348K	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	348	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T348K(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACATATTCACGGCCTATAAC	0.617000													15	50					5.01169e-05	5.64138e-05	0.004990	1	0
OR52K1	390036	broad.mit.edu	37	11	4511052	4511052	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:4511052C>A	ENST00000307632.3	+	1	944	c.922C>A	c.(922-924)Cta>Ata	p.L308I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L308I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTGCTCAGTCTATTCCAGAG	0.403000													80	115					2.1672e-28	3.62193e-28	0.003610	1	0
JPH4	84502	broad.mit.edu	37	14	24040242	24040242	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:24040242G>T	ENST00000397118.3	-	6	2600	c.1698C>A	c.(1696-1698)ccC>ccA	p.P566P	JPH4_ENST00000544177.1_Silent_p.P231P|JPH4_ENST00000356300.4_Silent_p.P566P	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	566					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		p.P566P(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCATGGCGATGGGCTCAGGCT	0.682000													18	80					1.28384e-07	1.58022e-07	0.001882	1	0
PLG	5340	broad.mit.edu	37	6	161139844	161139844	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:161139844T>A	ENST00000308192.9	+	9	1133	c.1070T>A	c.(1069-1071)gTa>gAa	p.V357E		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	357					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.V357E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCTCCCCAGTATCCACGGAA	0.517000													6	69					0	0	0.001168	0	0
NTF3	4908	broad.mit.edu	37	12	5603588	5603588	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:5603588C>A	ENST00000423158.3	+	2	459	c.247C>A	c.(247-249)Cga>Aga	p.R83R	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Silent_p.R70R	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	70					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R70R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGAGGCTCCCCGAGAGCCGGA	0.557000													13	120					4.7546e-09	6.12106e-09	0.004007	1	0
ANKRD55	79722	broad.mit.edu	37	5	55455694	55455694	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:55455694G>T	ENST00000341048.4	-	6	600	c.449C>A	c.(448-450)tCg>tAg	p.S150*	ANKRD55_ENST00000513241.2_Nonsense_Mutation_p.S121*|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Nonsense_Mutation_p.S150*	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	149								p.S150*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCTGATGTTCGACTGTTGCAA	0.463000													13	255					1.5842e-08	2.01575e-08	0.001855	1	0
OR4D11	219986	broad.mit.edu	37	11	59271426	59271426	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:59271426C>T	ENST00000313253.1	+	1	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I126I(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ACATGGCCATCTCCAAGCCCC	0.517000													54	214					0	0	0.003610	0	0
NLRP14	338323	broad.mit.edu	37	11	7063623	7063623	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:7063623T>C	ENST00000299481.4	+	4	712	c.366T>C	c.(364-366)gaT>gaC	p.D122D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	122					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.D122D(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACTTAGGTGATGGAACAGAAT	0.343000													41	50					0	0	0.003610	0	0
CBWD6	644019	broad.mit.edu	37	9	69205514	69205514	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:69205514C>T	ENST00000377457.5	-	14	1129	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	CBWD6_ENST00000468061.1_5'UTR|CBWD6_ENST00000382399.4_Missense_Mutation_p.E322K|CBWD6_ENST00000377449.1_Missense_Mutation_p.E306K	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	342	CobW C-terminal.						ATP binding	p.E342K(1)		lung(4)	4						ACTGGAGTCTCCTCCAGATCA	0.423000													30	97					0	0	0.009535	0	0
HYDIN	54768	broad.mit.edu	37	16	71061506	71061506	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:71061506C>A	ENST00000321489.5	-	20	3191	c.3041G>T	c.(3040-3042)aGg>aTg	p.R1014M	HYDIN_ENST00000448691.1_Missense_Mutation_p.R1014M|HYDIN_ENST00000448089.2_Splice_Site_p.R1014_splice|HYDIN_ENST00000393567.2_Splice_Site_p.R1014_splice	NM_017558.3	NP_060028.2	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1014								p.R1014M(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCCCTTACCCTGGGAGTAGC	0.463000													4	46					1.23904e-05	1.4166e-05	0.000602	1	0
NUP107	57122	broad.mit.edu	37	12	69124946	69124946	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:69124946T>C	ENST00000229179.4	+	21	2123	c.1791T>C	c.(1789-1791)ccT>ccC	p.P597P	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Silent_p.P568P	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	597					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.P597P(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTCATTTGCCTCAAGACCTAG	0.328000													3	73					0	0	0.009096	0	0
HADHB	3032	broad.mit.edu	37	2	26502085	26502085	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:26502085G>C	ENST00000317799.5	+	9	817	c.713G>C	c.(712-714)cGg>cCg	p.R238P	HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.R216P|HADHB_ENST00000537713.1_Missense_Mutation_p.R223P|HADHB_ENST00000494615.1_3'UTR	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	238					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	p.R238P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTTTCTCGGCTGGAACAG	0.542000													19	85					0	0	0.008871	0	0
C9orf170	401535	broad.mit.edu	37	9	89771610	89771610	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:89771610T>C	ENST00000375941.2	+	2	378	c.291T>C	c.(289-291)acT>acC	p.T97T		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	97								p.T97T(1)		large_intestine(3)|lung(2)|prostate(1)	6						TAGATGTCACTCGGGAAGACC	0.403000													11	62					0	0	0.003163	0	0
SMOC2	64094	broad.mit.edu	37	6	168999541	168999541	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:168999541C>A	ENST00000354536.5	+	8	934	c.714C>A	c.(712-714)gcC>gcA	p.A238A	SMOC2_ENST00000356284.2_Silent_p.A227A	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	227	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TGGAGGAAGCCAAGCAGCCCA	0.612000													23	112					1.85244e-09	2.41325e-09	0.003330	1	0
TMEM132E	124842	broad.mit.edu	37	17	32964723	32964723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:32964723C>A	ENST00000321639.5	+	10	2755	c.2427C>A	c.(2425-2427)tgC>tgA	p.C809*		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	809						integral to membrane		p.C809*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGTCTTCTGCCTCGCCATCC	0.632000													18	83					2.4624e-09	3.19644e-09	0.008871	1	0
PLXNB3	5365	broad.mit.edu	37	X	153039513	153039513	+	Missense_Mutation	SNP	G	G	T	rs146891755	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:153039513G>T	ENST00000538966.1	+	21	3819	c.3548G>T	c.(3547-3549)cGc>cTc	p.R1183L	PLXNB3_ENST00000538776.1_Missense_Mutation_p.R813L|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R770L|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R1160L	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1160	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	p.R1160L(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCTGCCCGCCCCTACCGC	0.706000													6	10					9.70103e-10	1.2729e-09	0.008291	1	0
HVCN1	84329	broad.mit.edu	37	12	111088015	111088015	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:111088015C>T	ENST00000356742.5	-	6	1467	c.714G>A	c.(712-714)ttG>ttA	p.L238L	HVCN1_ENST00000439744.2_Silent_p.L218L|HVCN1_ENST00000548312.1_Silent_p.L238L|HVCN1_ENST00000242607.8_Silent_p.L238L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	238					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.L238L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TCTTGGCGGCCAATTGTACAT	0.458000													49	63					0	0	0.003610	0	0
KCTD7	154881	broad.mit.edu	37	7	66240233	66240233	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:66240233G>C	ENST00000380828.2	+	5	473	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E80Q|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E81Q|KCTD7_ENST00000510829.2_Missense_Mutation_p.E67Q|RABGEF1_ENST00000284957.5_Missense_Mutation_p.E67Q|KCTD7_ENST00000451741.2_Missense_Mutation_p.E67Q|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E67Q			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E67Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GGAGGAAGAAGAGGCCTTTGC	0.463000													10	103					0	0	0.001368	0	0
LRRK2	120892	broad.mit.edu	37	12	40651089	40651089	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:40651089T>C	ENST00000298910.7	+	12	1386	c.1328T>C	c.(1327-1329)cTg>cCg	p.L443P	LRRK2_ENST00000343742.2_Missense_Mutation_p.L443P	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	443					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.L443P(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGAATACACCTGAATGTTTTG	0.284000													5	62					0	0	0.001168	0	0
CEBPZ	10153	broad.mit.edu	37	2	37429980	37429980	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:37429980C>G	ENST00000234170.5	-	15	3117	c.2972G>C	c.(2971-2973)gGa>gCa	p.G991A	AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_3'UTR	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	991					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.G991A(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AAACTTGGATCCCATATTTTC	0.274000													9	55					0	0	0.004482	0	0
TMEM67	91147	broad.mit.edu	37	8	94811942	94811942	+	Missense_Mutation	SNP	T	T	C	rs138508720		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:94811942T>C	ENST00000453321.3	+	21	2255	c.2197T>C	c.(2197-2199)Tat>Cat	p.Y733H	TMEM67_ENST00000409623.3_Missense_Mutation_p.Y652H	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	733					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	p.Y723H(1)|p.Y733H(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CATTTTGAGATATGCAGTGTC	0.378000													12	133					0	0	0.001855	0	0
CFB	629	broad.mit.edu	37	6	31916238	31916238	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:31916238A>T	ENST00000456570.1	+	19	2546	c.2491A>T	c.(2491-2493)Agc>Tgc	p.S831C	CFB_ENST00000425368.2_Missense_Mutation_p.S329C|CFB_ENST00000477310.1_Missense_Mutation_p.S680C|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000556679.1_Missense_Mutation_p.S831C			P00751	CFAB_HUMAN	complement factor B	329					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.S329C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGAAGCAGACAGCAGTAATGC	0.478000													17	111					0	0	0.004007	0	0
TSGA10	80705	broad.mit.edu	37	2	99634668	99634668	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:99634668T>C	ENST00000393483.3	-	20	2911	c.2067A>G	c.(2065-2067)ttA>ttG	p.L689L	TSGA10_ENST00000355053.4_Silent_p.L689L|TSGA10_ENST00000410001.1_Silent_p.L689L|TSGA10_ENST00000539964.1_Silent_p.L689L	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	689	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane		p.L689L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CTCACTCTTCTAATGATCGAT	0.378000													3	35					0	0	0.004672	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768572	31768572	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:31768572G>T	ENST00000240587.4	-	2	2454	c.2127C>A	c.(2125-2127)atC>atA	p.I709I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	709					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I526I(1)|p.I709I(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGGTCGGTGATGATGGCCG	0.612000													12	77					4.3838e-07	5.28279e-07	0.001855	1	0
LAMA2	3908	broad.mit.edu	37	6	129637025	129637025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:129637025G>T	ENST00000421865.2	+	26	3903	c.3854G>T	c.(3853-3855)aGa>aTa	p.R1285I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1285	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1285I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTCATGCTAGAATTATCGTC	0.413000													29	107					5.45727e-16	8.07144e-16	0.008361	1	0
CYLD	1540	broad.mit.edu	37	16	50811792	50811792	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:50811792G>T	ENST00000540145.1	+	8	1493	c.1078G>T	c.(1078-1080)Ggg>Tgg	p.G360W	CYLD_ENST00000568704.2_Missense_Mutation_p.G357W|CYLD_ENST00000427738.3_Missense_Mutation_p.G360W|CYLD_ENST00000566206.1_Missense_Mutation_p.G357W|CYLD_ENST00000311559.9_Missense_Mutation_p.G360W|CYLD_ENST00000569418.1_Missense_Mutation_p.G357W|CYLD_ENST00000564326.1_Missense_Mutation_p.G357W|CYLD_ENST00000398568.2_Missense_Mutation_p.G357W			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	360	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G360L(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TACCTTAAATGGGTCTTCTGT	0.299000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				4	61					0.00909568	0.00953171	0.009096	1	0
RELN	5649	broad.mit.edu	37	7	103130329	103130329	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:103130329C>A	ENST00000428762.1	-	60	9782	c.9623G>T	c.(9622-9624)tGg>tTg	p.W3208L	RELN_ENST00000424685.2_Missense_Mutation_p.W3208L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.W3208L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3208					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.W3208L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCTGGATCCAGCGGAACTG	0.547000													21	82					2.39556e-15	3.51929e-15	0.002780	1	0
WIPF1	7456	broad.mit.edu	37	2	175440024	175440024	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:175440024C>T	ENST00000392547.2	-	4	365	c.266G>A	c.(265-267)gGt>gAt	p.G89D	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.G89D|WIPF1_ENST00000359761.3_Missense_Mutation_p.G89D|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G89D|WIPF1_ENST00000392546.2_Missense_Mutation_p.G89D|WIPF1_ENST00000410117.1_Missense_Mutation_p.G89D|WIPF1_ENST00000272746.5_Missense_Mutation_p.G89D|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	89	Gly-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.G89D(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						aaaacttccaccgcctccgcc	0.602000													17	161					0	0	0.004990	0	0
EIF3B	8662	broad.mit.edu	37	7	2402301	2402301	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:2402301G>A	ENST00000360876.4	+	3	770	c.714G>A	c.(712-714)gcG>gcA	p.A238A	EIF3B_ENST00000397011.2_Silent_p.A238A	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	238	RRM.|Sufficient for interaction with EIF3E.|Sufficient for interaction with EIF3J.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	p.A238A(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TGGAGTACGCGTCCCCTGCCC	0.562000													10	101					0	0	0.001368	0	0
PKD1L1	168507	broad.mit.edu	37	7	47867068	47867068	+	Splice_Site	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:47867068T>A	ENST00000289672.2	-	45	6786		c.e45-2			NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1						cell-cell adhesion	integral to membrane		p.?(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCCAAGACCTGTCAGGGACA	0.622000													7	35					0	0	0.004482	0	0
PEX1	5189	broad.mit.edu	37	7	92118631	92118631	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:92118631T>C	ENST00000248633.4	-	23	3838	c.3743A>G	c.(3742-3744)gAt>gGt	p.D1248G	AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.D926G|PEX1_ENST00000428214.1_Missense_Mutation_p.D1191G	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1248					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.D1248G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTCCAGTCATCTTCACTAAT	0.378000													6	76					0	0	0.003080	0	0
IGFL4	444882	broad.mit.edu	37	19	46543514	46543514	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:46543514C>T	ENST00000377697.1	-	3	284	c.231G>A	c.(229-231)ctG>ctA	p.L77L	IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	77						extracellular region		p.L77L(1)		cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CCAAAGACTCCAGGCAGCAGT	0.582000													16	51					0	0	0.004007	0	0
MAPK9	5601	broad.mit.edu	37	5	179691800	179691800	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:179691800G>C	ENST00000452135.2	-	4	590	c.292C>G	c.(292-294)Cta>Gta	p.L98V	MAPK9_ENST00000455781.1_Missense_Mutation_p.L98V|MAPK9_ENST00000343111.6_Missense_Mutation_p.L98V|MAPK9_ENST00000347470.4_Missense_Mutation_p.L98V|MAPK9_ENST00000539014.1_Missense_Mutation_p.L98V|MAPK9_ENST00000393360.3_Missense_Mutation_p.L98V|MAPK9_ENST00000425491.2_Missense_Mutation_p.L98V|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	98	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	p.L98V(4)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATTCTTCTAGAGTTTTTTGT	0.259000													6	13					0	0	0.001984	0	0
RIN3	79890	broad.mit.edu	37	14	93118589	93118589	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:93118589G>T	ENST00000216487.7	+	6	1354	c.1195G>T	c.(1195-1197)Gac>Tac	p.D399Y	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	399	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.D399Y(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GTCCTTAGAAGACCAAAGTCC	0.677000													9	46					4.68919e-08	5.85747e-08	0.008291	1	0
CSMD3	114788	broad.mit.edu	37	8	113332155	113332155	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:113332155C>T	ENST00000297405.5	-	46	7465	c.7221G>A	c.(7219-7221)ttG>ttA	p.L2407L	CSMD3_ENST00000455883.2_Silent_p.L2303L|CSMD3_ENST00000343508.3_Silent_p.L2367L|CSMD3_ENST00000352409.3_Silent_p.L2337L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2407	Sushi 13.					integral to membrane|plasma membrane		p.L2367L(1)|p.L2407L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCTTCCGTCAAAATTTCAG	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	161					0	0	0.000602	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711814	155711814	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:155711814C>G	ENST00000295101.2	+	3	1972	c.1495C>G	c.(1495-1497)Cgc>Ggc	p.R499G		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	499					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R499G(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GAACTCTGATCGCTTCACATA	0.408000													2	15					0	0	0.004672	0	0
PRSS1	5644	broad.mit.edu	37	7	142460411	142460411	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:142460411C>T	ENST00000486171.1	+	5	643	c.626C>T	c.(625-627)tCa>tTa	p.S209L	PRSS1_ENST00000311737.7_Missense_Mutation_p.S195L			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	195	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.S195L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGCAAGGATTCATGTCAGGTG	0.532000													11	236					0	0	0.001855	0	0
DOCK4	9732	broad.mit.edu	37	7	111638539	111638539	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:111638539T>A	ENST00000428084.1	-	4	454	c.182A>T	c.(181-183)tAc>tTc	p.Y61F	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.Y61F			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	61	SH3.				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	p.Y49F(1)|p.Y61F(1)		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)				CAAGTGAACGTAGCTGGAAGG	0.388000													4	7					0	0	0.000602	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698691	187698691	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:187698691G>A	ENST00000295131.2	-	6	849	c.810C>T	c.(808-810)caC>caT	p.H270H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	270					apoptosis		zinc ion binding	p.H270H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATGTAAACGTGTGGGAAAGAT	0.358000													7	52					0	0	0.003080	0	0
MSI2	124540	broad.mit.edu	37	17	55709162	55709162	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:55709162G>T	ENST00000322684.3	+	10	761	c.726G>T	c.(724-726)ccG>ccT	p.P242P	MSI2_ENST00000442934.2_Intron|MSI2_ENST00000579180.1_Silent_p.P142P|MSI2_ENST00000579505.1_Intron|MSI2_ENST00000284073.2_Intron|MSI2_ENST00000416426.2_Intron	NM_170721.1	NP_733839.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	0						cytoplasm	nucleotide binding|RNA binding	p.P242P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		ACTATTTGCCGGTTTCACAAG	0.433000			T	HOXA9	CML								7	34					0.00307968	0.00326488	0.003080	1	0
SLC2A13	114134	broad.mit.edu	37	12	40158324	40158324	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:40158324C>A	ENST00000280871.4	-	9	1708	c.1658G>T	c.(1657-1659)tGg>tTg	p.W553L		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	553						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	p.W534L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATTGAAAATCCAGTTTATTCC	0.338000										HNSCC(50;0.14)			36	91					3.21399e-22	5.16602e-22	0.004878	1	0
OR10G9	219870	broad.mit.edu	37	11	123894150	123894150	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:123894150C>A	ENST00000375024.1	+	1	431	c.431C>A	c.(430-432)gCc>gAc	p.A144D		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A144D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCCCTCCTGGCCACCAGCACT	0.527000													37	192					5.04308e-16	7.46895e-16	0.006230	1	0
LUZP1	7798	broad.mit.edu	37	1	23417697	23417697	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:23417697G>A	ENST00000302291.4	-	4	3859	c.3058C>T	c.(3058-3060)Cac>Tac	p.H1020Y	LUZP1_ENST00000374623.3_Missense_Mutation_p.H1020Y|LUZP1_ENST00000314174.5_Missense_Mutation_p.H1020Y|LUZP1_ENST00000418342.1_Missense_Mutation_p.H1020Y			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1020						nucleus		p.H1020Y(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTGCTGAGTGGTTCCAGGCT	0.552000													4	9					0	0	0.000602	0	0
IFNB1	3456	broad.mit.edu	37	9	21077760	21077760	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:21077760G>T	ENST00000380232.2	-	1	183	c.109C>A	c.(109-111)Cag>Aag	p.Q37K		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	37					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	p.Q37K(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TTCTGACACTGAAAATTGCTG	0.468000													43	32					2.64894e-19	4.0894e-19	0.003610	1	0
RNF138	51444	broad.mit.edu	37	18	29709131	29709131	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:29709131C>G	ENST00000261593.3	+	8	1177	c.719C>G	c.(718-720)tCt>tGt	p.S240C	RNF138_ENST00000257190.5_Missense_Mutation_p.S146C	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	240					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding	p.S240C(1)|p.S240F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GTTGAAGAATCTTTTCAAGTA	0.368000													11	79					0	0	0.002450	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262802	140262802	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140262802G>A	ENST00000289272.2	+	1	949	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E317K|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.E317K(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATTATATGAAATATCCGT	0.403000													39	99					0	0	0.005524	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334263	39334263	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:39334263G>T	ENST00000377726.2	-	1	197	c.154C>A	c.(154-156)Cag>Aag	p.Q52K		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	52	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament		p.Q169K(1)|p.Q52K(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CACACAGACTGGCAGCACTGC	0.672000													19	38					2.37509e-13	3.38018e-13	0.010504	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147914500	147914500	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:147914500C>T	ENST00000361727.3	+	19	3647	c.3131C>T	c.(3130-3132)cCg>cTg	p.P1044L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P103L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1044					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1044L(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AACTCCCACCCGGACCTGGCA	0.562000										HNSCC(39;0.1)			32	219					0	0	0.002096	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417236	150417236	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:150417236G>A	ENST00000307194.5	+	3	284	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.L48L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGCATCCTGGGCCAGAGAC	0.647000													95	194					0	0	0.003610	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520879	33520879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:33520879C>A	ENST00000297307.5	-	1	533	c.448G>T	c.(448-450)Gag>Tag	p.E150*		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	150	DUF6 1.					integral to membrane		p.E150*(1)									CCCTGGCTCTCAAGGCAGAGA	0.587000													44	160					5.7554e-21	9.13013e-21	0.003610	1	0
ZMIZ1	57178	broad.mit.edu	37	10	81053264	81053264	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:81053264G>T	ENST00000334512.5	+	12	1656	c.1084G>T	c.(1084-1086)Ggc>Tgc	p.G362C	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	362	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	p.G362C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GGGGATGAGCGGCCCTCCCAT	0.731000													20	88					2.37509e-13	3.38018e-13	0.010504	1	0
EIF5B	9669	broad.mit.edu	37	2	99980853	99980853	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:99980853C>A	ENST00000289371.5	+	6	1459	c.1257C>A	c.(1255-1257)gcC>gcA	p.A419A		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	419					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.A419A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGCCAGAGCCGAAGCTACTC	0.398000													16	160					3.45872e-05	3.92563e-05	0.004007	1	0
TMEM63A	9725	broad.mit.edu	37	1	226054364	226054364	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:226054364C>A	ENST00000366835.3	-	9	855	c.585G>T	c.(583-585)ctG>ctT	p.L195L	TMEM63A_ENST00000537914.1_5'UTR	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	195						integral to membrane|lysosomal membrane	nucleotide binding	p.L195L(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AGATGGTGTGCAGCCAAAGGA	0.562000													7	44					0.00307968	0.00326488	0.003080	1	0
SAMD3	154075	broad.mit.edu	37	6	130465809	130465809	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:130465809A>T	ENST00000368134.2	-	14	2027	c.1419T>A	c.(1417-1419)ttT>ttA	p.F473L	SAMD3_ENST00000457563.2_Missense_Mutation_p.F497L|SAMD3_ENST00000437477.2_Missense_Mutation_p.F473L|SAMD3_ENST00000439090.2_Missense_Mutation_p.F473L	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	473								p.F473L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TAAATACATGAAAGGCAGCTA	0.423000													34	71					0	0	0.003271	0	0
BPIFC	254240	broad.mit.edu	37	22	32841622	32841622	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:32841622C>A	ENST00000397452.1	-	6	704	c.594_splice	c.e6+1	p.M198_splice	BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000300399.3_Splice_Site_p.M198_splice|BPIFC_ENST00000432451.2_Splice_Site_p.M12_splice			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	198						extracellular region	lipopolysaccharide binding|phospholipid binding	p.M198I(1)									AAAGACTCACCATTTCATTTA	0.289000													14	246					0.000566183	0.000616373	0.004990	1	0
GADL1	339896	broad.mit.edu	37	3	30891521	30891521	+	Silent	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:30891521A>C	ENST00000454381.3	-	6	664	c.618T>G	c.(616-618)ggT>ggG	p.G206G	GADL1_ENST00000282538.5_Silent_p.G206G			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	206					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.G206G(1)|p.G22G(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATCTTGGCGAACCAGACAGCC	0.333000													9	74					0	0	0.008291	0	0
PARP10	84875	broad.mit.edu	37	8	145057392	145057392	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:145057392G>A	ENST00000313028.7	-	8	2459	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L	PARP10_ENST00000525773.1_Silent_p.L801L|PARP10_ENST00000524918.1_Silent_p.L780L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	789	Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	p.L789L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCAGCCAGAAGTGCCACC	0.657000													4	54					0	0	0.000602	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33535001	33535001	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:33535001C>A	ENST00000504830.1	-	23	4878	c.4543G>T	c.(4543-4545)Gat>Tat	p.D1515Y	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1430Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1515	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D1515Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTTTGTGATCACATAGACAT	0.488000										HNSCC(64;0.19)			14	114					9.05144e-12	1.25389e-11	0.001855	1	0
TRIM56	81844	broad.mit.edu	37	7	100732027	100732027	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100732027G>C	ENST00000306085.6	+	3	1731	c.1434G>C	c.(1432-1434)ctG>ctC	p.L478L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	478					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.L478L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCCAGCCCTGGGGCCGAATC	0.622000													91	290					0	0	0.003610	0	0
CHGB	1114	broad.mit.edu	37	20	5903186	5903186	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:5903186G>A	ENST00000378961.4	+	4	600	c.396G>A	c.(394-396)gaG>gaA	p.E132E		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	132						extracellular region	hormone activity	p.E132E(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACAGCCGAGAGCGAGCGGATG	0.612000													4	4					0	0	0.004482	0	0
CD84	8832	broad.mit.edu	37	1	160535279	160535279	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:160535279C>A	ENST00000368054.3	-	2	338	c.303G>T	c.(301-303)atG>atT	p.M101I	CD84_ENST00000368048.3_Missense_Mutation_p.M101I|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Missense_Mutation_p.M101I|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000311224.4_Missense_Mutation_p.M101I	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	101					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.M101_E102>I*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCGTCTTCCATCCTCAGAT	0.463000													23	334					7.92952e-12	1.09987e-11	0.003954	1	0
OR4C15	81309	broad.mit.edu	37	11	55322128	55322128	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:55322128T>G	ENST00000314644.2	+	1	346	c.346T>G	c.(346-348)Ttg>Gtg	p.L116V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L116V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTACTTCTTCTTGGGCTTCCT	0.448000										HNSCC(20;0.049)			22	230					0	0	0.002299	0	0
AKAP9	10142	broad.mit.edu	37	7	91667800	91667800	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:91667800A>G	ENST00000359028.2	+	18	4667	c.4442A>G	c.(4441-4443)gAa>gGa	p.E1481G	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1481G|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1469G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1481					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.E1481G(1)|p.E1469G(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGGGGAAAAGAAAATACTGCA	0.328000			T	BRAF	papillary thyroid								13	181					0	0	0.003163	0	0
WDFY3	23001	broad.mit.edu	37	4	85678286	85678286	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:85678286C>A	ENST00000322366.6	-	33	5624	c.5217G>T	c.(5215-5217)ggG>ggT	p.G1739G	WDFY3_ENST00000295888.4_Silent_p.G1739G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1739						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.G1739G(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCGTCGATCTCCCACCAGCAC	0.443000													19	53					8.34094e-07	9.89863e-07	0.008871	1	0
TPK1	27010	broad.mit.edu	37	7	144245652	144245652	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:144245652C>A	ENST00000549981.1	-	10	917	c.194G>T	c.(193-195)tGg>tTg	p.W65L	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.W128L|TPK1_ENST00000360057.3_Missense_Mutation_p.W182L|TPK1_ENST00000378099.3_Missense_Mutation_p.W133L			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	182					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.W182L(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AAGGCCACACCAATCACCCTC	0.438000													12	85					5.50884e-06	6.36486e-06	0.001368	1	0
IL36G	56300	broad.mit.edu	37	2	113742535	113742535	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:113742535T>A	ENST00000259205.4	+	5	488	c.419T>A	c.(418-420)aTt>aAt	p.I140N	IL36G_ENST00000376489.2_Missense_Mutation_p.I105N	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	140					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.I140N(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GACTGGTTCATTGCCTCCTCC	0.502000													50	68					0	0	0.003610	0	0
ACTN2	88	broad.mit.edu	37	1	236881170	236881170	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:236881170T>A	ENST00000366578.4	+	2	305	c.139T>A	c.(139-141)Tgg>Agg	p.W47R	ACTN2_ENST00000542672.1_Missense_Mutation_p.W47R|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	47	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.W47R(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTTCACTGCCTGGTGTAACTC	0.493000													14	38					0	0	0.003163	0	0
LVRN	206338	broad.mit.edu	37	5	115335573	115335573	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:115335573C>G	ENST00000357872.4	+	7	1613	c.1489C>G	c.(1489-1491)Ctc>Gtc	p.L497V	AQPEP_ENST00000395528.2_Missense_Mutation_p.L14V	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		497					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.L497V(1)									AATACAGGAACTCTTTGACAT	0.368000													29	78					0	0	0.003271	0	0
ANO4	121601	broad.mit.edu	37	12	101437376	101437376	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:101437376C>A	ENST00000392979.3	+	12	1470	c.1109C>A	c.(1108-1110)cCa>cAa	p.P370Q	ANO4_ENST00000392977.3_Missense_Mutation_p.P405Q|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	405						chloride channel complex	chloride channel activity	p.P370Q(1)		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						AAATACTGTCCATTCATGAGG	0.393000										HNSCC(74;0.22)			18	79					1.55795e-14	2.26742e-14	0.001882	1	0
TTN	7273	broad.mit.edu	37	2	179544998	179544998	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179544998A>T	ENST00000589042.1	-	139	33625	c.33401T>A	c.(33400-33402)gTa>gAa	p.V11134E	TTN_ENST00000342992.6_Missense_Mutation_p.V9890E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V10817E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10817	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V9890E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTGGTGCTACTTCTTTTCT	0.378000													12	231					0	0	0.002450	0	0
MGA	23269	broad.mit.edu	37	15	42042588	42042588	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:42042588A>G	ENST00000219905.7	+	17	6964	c.6783A>G	c.(6781-6783)gcA>gcG	p.A2261A	MGA_ENST00000389936.4_Silent_p.A2222A|MGA_ENST00000545763.1_Silent_p.A2052A|MGA_ENST00000570161.1_Silent_p.A2261A|MGA_ENST00000566586.1_Silent_p.A2052A	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2222						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.A2310A(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGAGAGCTGCAAAAAGCAGCA	0.448000													10	46					0	0	0.006214	0	0
DNAH7	56171	broad.mit.edu	37	2	196821991	196821991	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:196821991G>A	ENST00000312428.6	-	19	3172	c.3072C>T	c.(3070-3072)gtC>gtT	p.V1024V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1024	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V1024V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTACCTGCATGACACTTCTCA	0.368000													11	133					0	0	0.000978	0	0
RNF212	285498	broad.mit.edu	37	4	1073450	1073450	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:1073450G>C	ENST00000382968.5	-	8	588	c.491C>G	c.(490-492)tCt>tGt	p.S164C	RNF212_ENST00000433731.2_Missense_Mutation_p.S164C	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	164							zinc ion binding	p.S164C(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CGGAGAAGGAGAGAGATCAAC	0.433000													17	88					0	0	0.006122	0	0
TPSD1	23430	broad.mit.edu	37	16	1308351	1308351	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:1308351C>T	ENST00000211076.3	+	5	851	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	TPSD1_ENST00000397534.2_Silent_p.L228L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	235	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.L235L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGGAGGGCCCCTGGTCTGCAA	0.672000													12	63					0	0	0.002450	0	0
OR56B1	387748	broad.mit.edu	37	11	5758106	5758106	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:5758106G>T	ENST00000317121.3	+	1	426	c.360G>T	c.(358-360)gaG>gaT	p.E120D	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E120D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TGGGCATGGAGTCTGGTATCC	0.438000													19	65					8.34094e-07	9.89863e-07	0.008871	1	0
LAMC3	10319	broad.mit.edu	37	9	133967067	133967067	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:133967067C>A	ENST00000361069.4	+	28	4754	c.4621C>A	c.(4621-4623)Ctg>Atg	p.L1541M	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1541	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.L1541M(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCAGCAGGAGCTGCAGATCCA	0.627000													11	8					9.31168e-06	1.07021e-05	0.001855	1	0
FOLH1B	219595	broad.mit.edu	37	11	89424270	89424270	+	RNA	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:89424270C>T	ENST00000532352.1	+	0	1733							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.S307F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TACAATATTTCTATGAAACAT	0.353000													14	86					0	0	0.001855	0	0
BEND2	139105	broad.mit.edu	37	X	18192350	18192350	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:18192350G>A	ENST00000380033.4	-	12	1913	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I	BEND2_ENST00000380030.3_Missense_Mutation_p.T503I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	594								p.T594I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AACACGGTTGGTACGTTTTTT	0.413000													12	104					0	0	0.001368	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442617	89442617	+	RNA	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:89442617A>T	ENST00000492167.1	-	0	26																											CTAACTGAGCAGCTCTTCTCC	0.607000													15	119					0	0	0.003163	0	0
GSK3B	2932	broad.mit.edu	37	3	119720926	119720926	+	Silent	SNP	G	G	A	rs141817453	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:119720926G>A	ENST00000264235.8	-	2	1231	c.249C>T	c.(247-249)gcC>gcT	p.A83A	GSK3B_ENST00000316626.5_Silent_p.A83A	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	83	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	p.A83A(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CTTTCTTGATGGCGACCAGTT	0.353000													61	208					0	0	0.003610	0	0
ADAR	103	broad.mit.edu	37	1	154571062	154571062	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:154571062C>A	ENST00000368474.4	-	3	1801		c.e3-1		ADAR_ENST00000292205.5_Splice_Site|ADAR_ENST00000368471.3_Splice_Site	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific						adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAATTTAAATCTTGACGGAAA	0.478000													19	198					4.26978e-12	5.94505e-12	0.003330	1	0
PTCHD3	374308	broad.mit.edu	37	10	27700774	27700774	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:27700774T>A	ENST00000438700.3	-	2	1291	c.1174A>T	c.(1174-1176)Att>Ttt	p.I392F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	392	SSD.				spermatid development	integral to membrane	hedgehog receptor activity	p.I392F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATGATGAGAATGTATGCCAGG	0.353000													16	64					0	0	0.004990	0	0
LRP1B	53353	broad.mit.edu	37	2	141113955	141113955	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:141113955C>A	ENST00000389484.3	-	75	12457	c.11486G>T	c.(11485-11487)tGt>tTt	p.C3829F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3829	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C3829F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAGGCTTACAGCGACAGAA	0.358000										TSP Lung(27;0.18)			51	77					1.32667e-27	2.20038e-27	0.003610	1	0
F10	2159	broad.mit.edu	37	13	113803629	113803629	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:113803629C>T	ENST00000375559.3	+	8	1303	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	422	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	p.P422L(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCGGGGGCCCGCACGTCACC	0.612000													43	85					0	0	0.003214	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714849	92714849	+	Missense_Mutation	SNP	C	C	T	rs148152472		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:92714849C>T	ENST00000257068.2	+	2	466	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	154					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.R154C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AATCTACCGGCGCTGGCACAC	0.592000													16	50					0	0	0.010504	0	0
CTNND2	1501	broad.mit.edu	37	5	11199641	11199641	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:11199641G>T	ENST00000304623.8	-	11	2083	c.1894C>A	c.(1894-1896)Ctg>Atg	p.L632M	CTNND2_ENST00000458100.2_Missense_Mutation_p.L199M|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.L632M|CTNND2_ENST00000503622.1_Missense_Mutation_p.L295M|CTNND2_ENST00000511377.1_Missense_Mutation_p.L541M	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	632					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.L632M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGTTTTTCAGGGCAATTTTG	0.507000													122	130					5.58585e-45	9.72187e-45	0.003610	1	0
ATP8A2	51761	broad.mit.edu	37	13	26535737	26535737	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:26535737C>T	ENST00000381655.2	+	34	3350	c.3208C>T	c.(3208-3210)Cac>Tac	p.H1070Y	ATP8A2_ENST00000255283.8_Missense_Mutation_p.H1005Y	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1030					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.H1070Y(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GAGCTCCGCACACTTCTGGTT	0.433000													35	98					0	0	0.004878	0	0
ATF6	22926	broad.mit.edu	37	1	161751777	161751777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:161751777C>T	ENST00000367942.3	+	3	302	c.235C>T	c.(235-237)Caa>Taa	p.Q79*		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	79	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.Q79*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CATCAACAACCAAATCTGTAC	0.323000													3	73					0	0	0.001168	0	0
PARP9	83666	broad.mit.edu	37	3	122264292	122264292	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:122264292C>G	ENST00000462315.1	-	7	1664	c.1371G>C	c.(1369-1371)ttG>ttC	p.L457F	PARP9_ENST00000360356.2_Missense_Mutation_p.L492F|PARP9_ENST00000477522.2_Missense_Mutation_p.L457F|PARP9_ENST00000492382.1_Missense_Mutation_p.L37F|PARP9_ENST00000471785.1_Missense_Mutation_p.L457F	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	492	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.L492F(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGTAATTGTTCAAACTCAGCA	0.443000													16	144					0	0	0.004990	0	0
PTH2R	5746	broad.mit.edu	37	2	209271772	209271772	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:209271772G>C	ENST00000272847.2	+	1	217	c.4G>C	c.(4-6)Gcc>Ccc	p.A2P	PTH2R_ENST00000413482.1_Intron	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	2						integral to plasma membrane	parathyroid hormone receptor activity	p.A2P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCCGGGCATGGCCGGGCTGGG	0.647000													82	205					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9046404	9046404	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9046404C>T	ENST00000397910.4	-	5	35430	c.35227G>A	c.(35227-35229)Gtg>Atg	p.V11743M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11745	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7376M(1)|p.V11743M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGAAGTCACCATCTCTGGT	0.502000													49	41					0	0	0.003610	0	0
GPR123	84435	broad.mit.edu	37	10	134940764	134940764	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:134940764C>T	ENST00000607359.1	+	15	2589	c.2589C>T	c.(2587-2589)ccC>ccT	p.P863P	GPR123_ENST00000392606.2_Silent_p.P46P|GPR123_ENST00000392607.3_Silent_p.P143P			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	143						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P863P(1)|p.P143P(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAGGGGTCCCCTTTATCATCT	0.647000													5	13					0	0	0.003080	0	0
AMPD1	270	broad.mit.edu	37	1	115220534	115220534	+	Missense_Mutation	SNP	G	G	C	rs144014236	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:115220534G>C	ENST00000369538.3	-	8	1355	c.1308C>G	c.(1306-1308)atC>atG	p.I436M	AMPD1_ENST00000520113.2_Missense_Mutation_p.I440M|AMPD1_ENST00000353928.6_Missense_Mutation_p.I407M	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	407					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.I440M(1)|p.I407M(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCCTCACCTTGATGATAGTGG	0.438000													40	133					0	0	0.003214	0	0
MXRA5	25878	broad.mit.edu	37	X	3248372	3248372	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:3248372C>A	ENST00000217939.6	-	4	550	c.396G>T	c.(394-396)ctG>ctT	p.L132L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	132						extracellular region		p.L132L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTCAATGTGCAGCCTCATTA	0.478000													7	27					7.48243e-07	8.92827e-07	0.006214	1	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128849008	128849008	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:128849008C>T	ENST00000418265.1	-	11	834	c.774G>A	c.(772-774)agG>agA	p.R258R	ISY1_ENST00000273541.8_Silent_p.R280R|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393295.3_Silent_p.R258R|ISY1_ENST00000393292.3_3'UTR	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN		258						catalytic step 2 spliceosome		p.R258R(1)									CCATTTTCTTCCTTCGCACCA	0.567000													15	120					0	0	0.006122	0	0
ABCB5	340273	broad.mit.edu	37	7	20666195	20666195	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:20666195G>T	ENST00000404938.2	+	3	721	c.69G>T	c.(67-69)caG>caT	p.Q23H		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	0	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.Q23H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGAAGAACAGCCAAAACTGA	0.333000													7	21					0.00198382	0.00211131	0.001984	1	0
ALG9	79796	broad.mit.edu	37	11	111680426	111680426	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:111680426A>G	ENST00000398006.2	-	14	2048	c.1140T>C	c.(1138-1140)taT>taC	p.Y380Y	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_Silent_p.Y387Y	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	551					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.Y784Y(1)|p.Y387Y(1)|p.Y783Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TATTGGATGAATATTTTGGCT	0.398000													13	56					0	0	0.002450	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906304	56906304	+	Silent	SNP	C	C	A	rs78870559		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:56906304C>A	ENST00000438926.2	+	7	923	c.894C>A	c.(892-894)gcC>gcA	p.A298A	SLC12A3_ENST00000566786.1_Silent_p.A297A|SLC12A3_ENST00000262502.5_Silent_p.A297A|SLC12A3_ENST00000563236.1_Silent_p.A298A	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	298					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.A298A(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCTCCTTTGCCAACTATTTAG	0.562000													6	90					6.42651e-13	9.08691e-13	0.000978	1	0
AARS2	57505	broad.mit.edu	37	6	44270894	44270894	+	Missense_Mutation	SNP	G	G	A	rs145436818	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:44270894G>A	ENST00000244571.4	-	16	2166	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	722					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	p.R722W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GATACCACCCGCACAGGGTCT	0.607000													12	59					0	0	0.001855	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408247	107408247	+	Silent	SNP	C	C	T	rs142908255	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:107408247C>T	ENST00000340010.5	-	19	2353	c.2169G>A	c.(2167-2169)aaG>aaA	p.K723K	SLC26A3_ENST00000422236.2_Silent_p.K610K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	723					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.K723K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGTAATCTTTCTTCATCAAAA	0.348000													11	167					0	0	0.001368	0	0
CLN3	1201	broad.mit.edu	37	16	28498850	28498850	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:28498850G>A	ENST00000357806.7	-	5	530	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	CLN3_ENST00000569430.1_Silent_p.L129L|CLN3_ENST00000360019.2_Silent_p.L129L|CLN3_ENST00000357857.9_Silent_p.L75L|CLN3_ENST00000535392.1_Silent_p.L51L|CLN3_ENST00000568224.1_Silent_p.L51L|CLN3_ENST00000565316.1_Silent_p.L129L|CLN3_ENST00000354630.5_Silent_p.L129L|CLN3_ENST00000333496.9_Silent_p.L105L|CLN3_ENST00000567963.1_Silent_p.L129L|CLN3_ENST00000357076.5_Silent_p.L129L|CLN3_ENST00000355477.5_Silent_p.L129L|CLN3_ENST00000395653.4_Silent_p.L29L|CLN3_ENST00000359984.7_Silent_p.L129L			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	0					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.L129L(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCCCACTGACGAGAACCCGGG	0.587000													19	58					0	0	0.001882	0	0
NOVA1	4857	broad.mit.edu	37	14	26917440	26917440	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:26917440T>C	ENST00000539517.2	-	5	1566	c.1249A>G	c.(1249-1251)Aca>Gca	p.T417A	NOVA1_ENST00000465357.2_Missense_Mutation_p.T393A|NOVA1_ENST00000267422.7_Missense_Mutation_p.T295A	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	420					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.T417A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GATCCATCTGTGGACTTTTCT	0.463000													7	65					0	0	0.003080	0	0
DOCK7	85440	broad.mit.edu	37	1	62979532	62979532	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:62979532C>A	ENST00000251157.5	-	32	4007	c.3974G>T	c.(3973-3975)aGt>aTt	p.S1325I	DOCK7_ENST00000340370.5_Missense_Mutation_p.S1294I	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1325					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.S1294I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAGGCTTCGACTTGATTCTGC	0.403000													11	104					0.000978159	0.00105437	0.000978	1	0
CACNA1G	8913	broad.mit.edu	37	17	48649379	48649379	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:48649379C>T	ENST00000352832.5	+	5	1099	c.727C>T	c.(727-729)Cta>Tta	p.L243L	CACNA1G_ENST00000513689.2_Silent_p.L243L|CACNA1G_ENST00000359106.5_Silent_p.L243L|CACNA1G_ENST00000507609.1_Silent_p.L243L|CACNA1G_ENST00000507896.1_Silent_p.L243L|CACNA1G_ENST00000429973.2_Silent_p.L243L|CACNA1G_ENST00000514079.1_Silent_p.L243L|CACNA1G_ENST00000505165.1_Silent_p.L243L|CACNA1G_ENST00000416767.4_Silent_p.L243L|CACNA1G_ENST00000515765.1_Silent_p.L243L|CACNA1G_ENST00000502264.1_Silent_p.L243L|CACNA1G_ENST00000513964.1_Silent_p.L243L|CACNA1G_ENST00000512389.1_Silent_p.L243L|CACNA1G_ENST00000507510.2_Silent_p.L243L|CACNA1G_ENST00000514181.1_Silent_p.L243L|CACNA1G_ENST00000515411.1_Silent_p.L243L|CACNA1G_ENST00000515165.1_Silent_p.L243L|CACNA1G_ENST00000442258.2_Silent_p.L243L|CACNA1G_ENST00000503485.1_Silent_p.L243L|CACNA1G_ENST00000360761.4_Silent_p.L243L|CACNA1G_ENST00000510366.1_Silent_p.L243L|CACNA1G_ENST00000507336.1_Silent_p.L243L|CACNA1G_ENST00000358244.5_Silent_p.L243L|CACNA1G_ENST00000354983.4_Silent_p.L243L|CACNA1G_ENST00000510115.1_Silent_p.L243L|CACNA1G_ENST00000514717.1_Silent_p.L243L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	243					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.L243L(4)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGATGCTTCCTACCTGAGAA	0.602000													5	69					0	0	0.000602	0	0
GPR17	2840	broad.mit.edu	37	2	128408648	128408648	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:128408648C>T	ENST00000544369.1	+	4	1034	c.423C>T	c.(421-423)ctC>ctT	p.L141L	LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000272644.3_Silent_p.L141L|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Silent_p.L141L|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	141						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.L141L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCTTCTACCTCAACATGTACG	0.607000													10	114					0	0	0.008291	0	0
DCHS2	54798	broad.mit.edu	37	4	155278470	155278470	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:155278470T>C	ENST00000357232.3	-	6	700	c.701A>G	c.(700-702)tAt>tGt	p.Y234C	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	234	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y234C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctctggactatagagtcctaa	0.428000													4	59					0	0	0.000602	0	0
NOD2	64127	broad.mit.edu	37	16	50744652	50744652	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:50744652G>T	ENST00000300589.2	+	4	935	c.830G>T	c.(829-831)gGc>gTc	p.G277V	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	277					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.G277V(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCCACCCTGGGCCTGGAGGAG	0.637000													10	24					1.08611e-07	1.34289e-07	0.000978	1	0
ZNF679	168417	broad.mit.edu	37	7	63720698	63720698	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:63720698G>C	ENST00000421025.1	+	3	408	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.E47Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E47Q(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTGATGTTAGAGAACTACAG	0.378000													11	162					0	0	0.001855	0	0
CXCL12	6387	broad.mit.edu	37	10	44871437	44871437	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:44871437T>C	ENST00000374426.2	-	4	347	c.310A>G	c.(310-312)Aaa>Gaa	p.K104E	CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	p.K104E(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CGCTTCTTTTTTCCTATCTTT	0.408000													19	181					0	0	0.002780	0	0
VCAM1	7412	broad.mit.edu	37	1	101194849	101194849	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:101194849C>A	ENST00000294728.2	+	5	1216	c.1115C>A	c.(1114-1116)cCt>cAt	p.P372H	VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.P310H|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	372	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.P372H(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACCCTGAGCCCTGTGAGTTTT	0.512000													17	162					0.000958276	0.00103498	0.007413	1	0
SPDYC	387778	broad.mit.edu	37	11	64940262	64940262	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:64940262C>A	ENST00000377185.2	+	6	706	c.624C>A	c.(622-624)ggC>ggA	p.G208G		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	208					cell cycle	nucleus	protein kinase binding	p.G208G(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TTCCCCGGGGCCCTGGCCTCT	0.647000													26	60					3.65163e-15	5.35736e-15	0.006320	1	0
SORCS1	114815	broad.mit.edu	37	10	108431126	108431126	+	Splice_Site	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:108431126C>T	ENST00000263054.6	-	16	2066		c.e16-1		SORCS1_ENST00000369698.1_Splice_Site|SORCS1_ENST00000344440.6_Splice_Site	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1							integral to membrane	neuropeptide receptor activity|protein binding	p.?(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATGCTTCCCCCTGTAAGCAGA	0.428000													45	103					0	0	0.003610	0	0
WEE2	494551	broad.mit.edu	37	7	141424063	141424063	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:141424063G>A	ENST00000397541.2	+	8	1615	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	403	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.E403E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGGCTAATGAGATTTTGCAAG	0.373000													15	188					0	0	0.003163	0	0
POF1B	79983	broad.mit.edu	37	X	84563165	84563165	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:84563165G>T	ENST00000262753.4	-	10	1160	c.1015C>A	c.(1015-1017)Cgg>Agg	p.R339R	POF1B_ENST00000373145.3_Silent_p.R339R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	339							actin binding	p.R339R(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCTCCTCCCGTATGTTGCTA	0.358000													9	44					4.68919e-08	5.85747e-08	0.008291	1	0
INHBA	3624	broad.mit.edu	37	7	41739824	41739824	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:41739824G>T	ENST00000242208.4	-	2	395	c.149C>A	c.(148-150)tCt>tAt	p.S50Y	INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S50Y|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	50					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.S50Y(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTCTGGCTGAGAGTTGGGTAC	0.612000										TSP Lung(11;0.080)			75	960					1.03172e-35	1.77029e-35	0.003610	1	0
FHDC1	85462	broad.mit.edu	37	4	153896824	153896824	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:153896824G>C	ENST00000511601.1	+	12	2569	c.2381G>C	c.(2380-2382)aGa>aCa	p.R794T	FHDC1_ENST00000260008.3_Missense_Mutation_p.R794T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	794					actin cytoskeleton organization		actin binding	p.R794T(1)	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)					TCCAGACCCAGAGGCGGGGAC	0.607000													17	112					0	0	0.007413	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870132	131870132	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:131870132G>C	ENST00000359827.3	-	16	4046	c.3084C>G	c.(3082-3084)atC>atG	p.I1028M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.I1028M			Q9HCM2	PLXA4_HUMAN	plexin A4	1028	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane		p.I1028M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTCCTGGTGGATCTTGGCCC	0.557000													30	133					0	0	0.009535	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253398	32253398	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:32253398C>T	ENST00000332378.4	-	1	476	c.446G>A	c.(445-447)aGg>aAg	p.R149K		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	149	4 X 10 AA approximate repeats.					keratin filament	structural molecule activity	p.R149K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CTGATACGTCCTGGAGACCCC	0.587000													8	67					0	0	0.002450	0	0
CLCNKA	1187	broad.mit.edu	37	1	16352635	16352635	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:16352635G>C	ENST00000375692.1	+	6	519	c.391G>C	c.(391-393)Gcg>Ccg	p.A131P	CLCNKA_ENST00000439316.2_Missense_Mutation_p.A88P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A131P|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A131P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	131					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.A131P(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GACCATGTTGGCGGGTGTGAT	0.572000													71	280					0	0	0.003610	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18123564	18123564	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:18123564G>T	ENST00000604915.1	+	1	488	c.260G>T	c.(259-261)aGt>aTt	p.S87I	CSRP2BP_ENST00000377681.2_Splice_Site|PET117_ENST00000432901.2_3'UTR|CSRP2BP_ENST00000278816.2_Splice_Site|CSRP2BP_ENST00000435364.2_Splice_Site			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	87					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATACCAGCCAGTAAGGAGCTT	0.428000													4	12					0.000151284	0.000168043	0.001855	1	0
RASGEF1B	153020	broad.mit.edu	37	4	82369249	82369249	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:82369249C>A	ENST00000509081.1	-	5	846	c.625G>T	c.(625-627)Gcc>Tcc	p.A209S	RASGEF1B_ENST00000264400.2_Missense_Mutation_p.A210S|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.A168S			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	210	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.A210S(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						AGCTGCTGGGCCAACGTGTAA	0.463000													15	131					3.45872e-05	3.92563e-05	0.004007	1	0
TMEM39B	55116	broad.mit.edu	37	1	32566053	32566053	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:32566053G>A	ENST00000427288.1	+	9	1261	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000336294.5_Missense_Mutation_p.E376K|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.E177K			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	376						integral to membrane		p.E249K(1)|p.E376K(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTGGACTGAAGAATGCATGTG	0.572000													6	34					0	0	0.001168	0	0
HMOX1	3162	broad.mit.edu	37	22	35783020	35783020	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:35783020G>C	ENST00000216117.8	+	3	826	c.487G>C	c.(487-489)Ggc>Cgc	p.G163R		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	163					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	p.G163R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	CTCTGGCGAGGGCCTGGCCTT	0.622000													9	95					0	0	0.006214	0	0
VSTM4	196740	broad.mit.edu	37	10	50315879	50315879	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:50315879C>A	ENST00000332853.3	-	2	240	c.217G>T	c.(217-219)Gcc>Tcc	p.A73S	VSTM4_ENST00000298454.3_Missense_Mutation_p.A73S	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	73	Ig-like.					integral to membrane|plasma membrane		p.A73S(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ACCATCAAGGCCTCCTGGGAG	0.612000													11	34					1.61879e-10	2.14465e-10	0.001368	1	0
GORASP2	26003	broad.mit.edu	37	2	171822343	171822343	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:171822343C>T	ENST00000234160.4	+	10	1877	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Silent_p.G366G	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	354	Pro-rich.					Golgi membrane		p.G354G(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						ACTTACCTGGCATTGCACCTC	0.562000													13	161					0	0	0.003163	0	0
FAM169A	26049	broad.mit.edu	37	5	74130338	74130338	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:74130338G>T	ENST00000389156.4	-	5	493	c.403C>A	c.(403-405)Cca>Aca	p.P135T	FAM169A_ENST00000510496.1_Missense_Mutation_p.P135T|FAM169A_ENST00000380515.3_Intron	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	135								p.P135T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CACAGGAATGGGATCTCATTT	0.398000													17	27					2.94398e-08	3.71139e-08	0.007413	1	0
MUC16	94025	broad.mit.edu	37	19	9048899	9048899	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9048899G>T	ENST00000397910.4	-	5	32935	c.32732C>A	c.(32731-32733)aCc>aAc	p.T10911N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10913	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6544K(1)|p.T10911K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCATGACTGGTGGCCATTGA	0.512000													19	93					0.00188189	0.00201263	0.001882	1	0
LRP2	4036	broad.mit.edu	37	2	170048350	170048350	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:170048350C>G	ENST00000263816.3	-	48	9309	c.9024G>C	c.(9022-9024)aaG>aaC	p.K3008N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3008	LDL-receptor class A 23.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.K3008N(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCTGAATATCTTTGGGATAC	0.488000													10	122					0	0	0.000978	0	0
WDFY3	23001	broad.mit.edu	37	4	85639672	85639672	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:85639672C>A	ENST00000322366.6	-	47	8013	c.7606G>T	c.(7606-7608)Ggg>Tgg	p.G2536W	WDFY3_ENST00000295888.4_Missense_Mutation_p.G2553W			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2553						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.G2553W(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAAGGAGCCCCTCACTGGTA	0.398000													16	107					1.33834e-09	1.74976e-09	0.007413	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110432808	110432808	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:110432808G>C	ENST00000378402.5	+	23	2690	c.2586G>C	c.(2584-2586)caG>caC	p.Q862H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	862					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.Q864H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCACTTTCAGGTGAATCAGA	0.343000										HNSCC(38;0.096)			10	83					0	0	0.006214	0	0
MYH8	4626	broad.mit.edu	37	17	10309716	10309716	+	Splice_Site	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:10309716T>A	ENST00000403437.2	-	20	2266		c.e20-2		CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.?(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACCTTGTATCTGCTCAGTTAA	0.353000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				22	72					0	0	0.003954	0	0
GPR158	57512	broad.mit.edu	37	10	25861766	25861766	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:25861766T>G	ENST00000376351.3	+	7	2062	c.1703T>G	c.(1702-1704)cTc>cGc	p.L568R		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	568						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L568R(1)		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						TCCGATCACCTCATCTTCAAT	0.433000													7	59					0	0	0.001984	0	0
MFAP5	8076	broad.mit.edu	37	12	8813495	8813495	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:8813495C>A	ENST00000359478.2	-	3	246		c.e3-1		MFAP5_ENST00000535336.1_Splice_Site|MFAP5_ENST00000538107.1_Splice_Site|MFAP5_ENST00000433590.2_Splice_Site|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000396549.2_Splice_Site|MFAP5_ENST00000540087.1_Splice_Site	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5							microfibril	extracellular matrix structural constituent	p.?(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GGTATCCAGTCTATAGCAAAG	0.433000													11	36					1.49906e-05	1.71209e-05	0.002450	1	0
C8A	731	broad.mit.edu	37	1	57349153	57349153	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:57349153G>T	ENST00000361249.3	+	6	750		c.e6-1			NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTTTTTTTCAGGCCCTGGCAG	0.318000													18	62					4.96729e-08	6.1907e-08	0.008871	1	0
PTPRT	11122	broad.mit.edu	37	20	40747085	40747085	+	Silent	SNP	G	G	T	rs34284587		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:40747085G>T	ENST00000373198.3	-	22	3241	c.3006C>A	c.(3004-3006)tcC>tcA	p.S1002S	PTPRT_ENST00000373193.3_Silent_p.S983S|PTPRT_ENST00000373201.1_Silent_p.S970S|PTPRT_ENST00000356100.2_Silent_p.S989S|PTPRT_ENST00000373187.1_Silent_p.S980S|PTPRT_ENST00000373190.1_Silent_p.S979S|PTPRT_ENST00000373184.1_Silent_p.S970S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	980	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S1002S(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGATGCTGGCGGAGTTCTCCT	0.537000													14	60					6.31663e-08	7.85446e-08	0.003163	1	0
NCOA4	8031	broad.mit.edu	37	10	51584632	51584632	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:51584632G>T	ENST00000452682.1	+	9	1031	c.779G>T	c.(778-780)tGc>tTc	p.C260F	NCOA4_ENST00000374087.4_Missense_Mutation_p.C244F|NCOA4_ENST00000374082.1_Missense_Mutation_p.C244F|NCOA4_ENST00000344348.6_Missense_Mutation_p.C244F|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000443446.1_Missense_Mutation_p.C244F|NCOA4_ENST00000438493.1_Missense_Mutation_p.C260F|NCOA4_ENST00000414907.2_Missense_Mutation_p.C78F|NCOA4_ENST00000430396.2_Missense_Mutation_p.C144F	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	244					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.C260F(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCCAGAGCCTGCAATTTCTTC	0.383000			T	RET	papillary thyroid								23	92					1.55795e-14	2.26742e-14	0.001882	1	0
PKHD1	5314	broad.mit.edu	37	6	51751937	51751937	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:51751937C>A	ENST00000371117.3	-	44	7378	c.7103G>T	c.(7102-7104)tGt>tTt	p.C2368F	PKHD1_ENST00000340994.4_Missense_Mutation_p.C2368F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2368					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	p.C2368F(2)		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)					TTACCTGGTACAAGAATGTGC	0.413000													4	62					1.6384e-10	2.168e-10	0.001984	1	0
TSGA13	114960	broad.mit.edu	37	7	130364188	130364188	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:130364188A>G	ENST00000456951.1	-	6	1043	c.192T>C	c.(190-192)ccT>ccC	p.P64P	TSGA13_ENST00000356588.3_Silent_p.P64P			Q96PP4	TSG13_HUMAN	testis specific, 13	64								p.P64P(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGGCCTTCAAAGGCTTATAGT	0.438000													12	62					0	0	0.003163	0	0
LRP1B	53353	broad.mit.edu	37	2	141777508	141777508	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:141777508C>A	ENST00000389484.3	-	12	2924	c.1953G>T	c.(1951-1953)gtG>gtT	p.V651V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	651					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V651V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGATCCACCACAATTCCTC	0.343000										TSP Lung(27;0.18)			40	82					1.00001e-27	1.66111e-27	0.009718	1	0
ABCB1	5243	broad.mit.edu	37	7	87195392	87195392	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:87195392C>A	ENST00000265724.3	-	8	1113	c.696G>T	c.(694-696)tgG>tgT	p.W232C	ABCB1_ENST00000543898.1_Missense_Mutation_p.W168C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	232	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.W232C(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTACCTTTGCCCAGACAGCAG	0.463000													7	91					8.12818e-05	9.07467e-05	0.001984	1	0
OR4A15	81328	broad.mit.edu	37	11	55135624	55135624	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:55135624T>A	ENST00000314706.3	+	1	265	c.265T>A	c.(265-267)Ttt>Att	p.F89I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F89I(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCCCATGTACTTTTTTCTGGC	0.413000													19	153					0	0	0.002299	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822241	129822241	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:129822241A>T	ENST00000422113.2	-	4	1563	c.1237T>A	c.(1237-1239)Ttg>Atg	p.L413M		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	413						integral to membrane		p.L413M(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GACACTCCCAAGTCAGACGTG	0.572000													24	257					0	0	0.003330	0	0
SLC1A6	6511	broad.mit.edu	37	19	15082552	15082552	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:15082552T>A	ENST00000598504.1	-	5	1699	c.340A>T	c.(340-342)Aca>Tca	p.T114S	SLC1A6_ENST00000600144.1_Missense_Mutation_p.T114S|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T114S|SLC1A6_ENST00000430939.2_Missense_Mutation_p.H118L|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T114S	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	114					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.T114S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CTCTCACCTGTGACCAGGCTG	0.557000													25	36					0	0	0.006320	0	0
SMOC2	64094	broad.mit.edu	37	6	168910593	168910593	+	Splice_Site	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:168910593A>C	ENST00000354536.5	+	2	304		c.e2-1		SMOC2_ENST00000356284.2_Splice_Site	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2						signal transduction	basement membrane	calcium ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TTCTCCTTTAAGTTTTTGAGA	0.463000													8	108					0	0	0.006214	0	0
NANOGP1	404635	broad.mit.edu	37	12	8048236	8048236	+	RNA	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:8048236C>A	ENST00000607111.1	+	0	164																		p.T48T(1)		kidney(1)|lung(4)|prostate(1)	6						TCTCTTCCACCCAGCTGTGTG	0.468000													20	137					1.15919e-05	1.32808e-05	0.008871	1	0
PCLO	27445	broad.mit.edu	37	7	82474669	82474669	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:82474669G>T	ENST00000423517.2	-	13	14301	c.13964C>A	c.(13963-13965)aCa>aAa	p.T4655K	PCLO_ENST00000333891.8_Missense_Mutation_p.T4655K|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4543	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T4655K(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTGCTGATGTAGGACCTGA	0.517000													6	84					8.12818e-05	9.07467e-05	0.001984	1	0
VCL	7414	broad.mit.edu	37	10	75842254	75842254	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:75842254A>G	ENST00000211998.4	+	7	920	c.826A>G	c.(826-828)Aaa>Gaa	p.K276E	VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.K276E|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	276	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	p.K276E(1)	VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CATAGACTCCAAACTGAACCA	0.453000													6	55					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113420618	113420618	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:113420618C>A	ENST00000297405.5	-	34	5778	c.5534G>T	c.(5533-5535)gGt>gTt	p.G1845V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1741V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1805V|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1845	CUB 10.					integral to membrane|plasma membrane		p.G1805V(1)|p.G1845V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATCTGATTACCTGAACTCAG	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	80					9.31168e-06	1.07021e-05	0.001855	1	0
CENPC	1060	broad.mit.edu	37	4	68374577	68374577	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:68374577C>A	ENST00000273853.6	-	10	2109	c.1859G>T	c.(1858-1860)aGt>aTt	p.S620I		NM_001812.2	NP_001803.2			centromere protein C									p.S620I(1)									TGCCTCATCACTTTCCAATGG	0.368000													14	69					1.02788e-11	1.41853e-11	0.004990	1	0
CYP3A7	1551	broad.mit.edu	37	7	99332708	99332708	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:99332708G>A	ENST00000336374.2	-	1	11	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	3					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.L3L(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AGTTTGGGATGAGATCCATCA	0.507000													8	151					0	0	0.003080	0	0
GABRG1	2565	broad.mit.edu	37	4	46125848	46125848	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:46125848A>G	ENST00000295452.4	-	1	250	c.83T>C	c.(82-84)cTg>cCg	p.L28P		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	28					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.L28P(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATGCAGGGTCAGTAACAAGAA	0.413000													3	29					0	0	0.004672	0	0
PRUNE2	158471	broad.mit.edu	37	9	79465437	79465437	+	Translation_Start_Site	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:79465437G>C	ENST00000428286.1	-	0	409				PRUNE2_ENST00000376713.3_Missense_Mutation_p.Q96E|PRUNE2_ENST00000376718.3_Missense_Mutation_p.Q96E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.Q96E(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCATTTAGCTGATGCAGGTTA	0.408000													106	78					0	0	0.003610	0	0
SAMD9	54809	broad.mit.edu	37	7	92732470	92732470	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:92732470C>A	ENST00000379958.2	-	3	3210	c.2941G>T	c.(2941-2943)Gta>Tta	p.V981L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	981						cytoplasm		p.V981L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGATGCGTACTCCACAGTAG	0.393000													43	160					3.86361e-14	5.57114e-14	0.003610	1	0
RP1L1	94137	broad.mit.edu	37	8	10473976	10473976	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:10473976A>G	ENST00000382483.3	-	3	954	c.731T>C	c.(730-732)cTg>cCg	p.L244P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	244					intracellular signal transduction			p.L244P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTTGAAGTCAGCCCAGATAA	0.527000													16	55					0	0	0.006122	0	0
RAD9A	5883	broad.mit.edu	37	11	67161065	67161065	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:67161065G>T	ENST00000307980.2	+	4	426	c.333G>T	c.(331-333)caG>caT	p.Q111H		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	111					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	p.Q111H(1)		lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TGGTGGTCCAGCTGCATTGCA	0.627000								Other conserved DNA damage response genes					16	30					1.2644e-06	1.49728e-06	0.010504	1	0
ADAM2	2515	broad.mit.edu	37	8	39624743	39624743	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:39624743A>T	ENST00000265708.4	-	13	1343	c.1240T>A	c.(1240-1242)Tgt>Agt	p.C414S	ADAM2_ENST00000347580.4_Missense_Mutation_p.C395S|ADAM2_ENST00000379853.2_Missense_Mutation_p.C288S|ADAM2_ENST00000521880.1_Missense_Mutation_p.C414S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	414	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C414S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCAATATCACAGCATGTTTCT	0.373000													52	194					0	0	0.003610	0	0
TMEM87A	25963	broad.mit.edu	37	15	42511790	42511790	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:42511790C>T	ENST00000389834.4	-	17	1792	c.1528G>A	c.(1528-1530)Gtt>Att	p.V510I	TMEM87A_ENST00000448392.1_Missense_Mutation_p.V449I|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	510						integral to membrane		p.V510I(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GCTTTGTTAACTTTACTATTT	0.333000													3	14					0	0	0.000602	0	0
TNS1	7145	broad.mit.edu	37	2	218713154	218713154	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:218713154G>A	ENST00000171887.4	-	17	2163	c.1711C>T	c.(1711-1713)Cat>Tat	p.H571Y	TNS1_ENST00000419504.1_Missense_Mutation_p.H571Y|TNS1_ENST00000430930.1_Missense_Mutation_p.H571Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	571						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.H696Y(1)|p.H571Y(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCCAGCATGGGCAGGCCCC	0.667000													23	40					0	0	0.005524	0	0
TUFT1	7286	broad.mit.edu	37	1	151537034	151537034	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:151537034A>G	ENST00000368849.3	+	5	420	c.358A>G	c.(358-360)Ata>Gta	p.I120V	TUFT1_ENST00000368848.2_Missense_Mutation_p.I95V|TUFT1_ENST00000353024.3_Missense_Mutation_p.I61V|TUFT1_ENST00000392712.3_Intron|TUFT1_ENST00000538902.1_Missense_Mutation_p.I139V	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	120					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	p.I120V(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCGGGAGGATATAAGTAGCAA	0.527000													11	63					0	0	0.000978	0	0
KRT25	147183	broad.mit.edu	37	17	38910148	38910148	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:38910148A>T	ENST00000312150.4	-	3	693	c.633T>A	c.(631-633)agT>agA	p.S211R		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	211	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.S211R(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCATCTCCTCACTCAGGGTTT	0.448000													54	228					0	0	0.003610	0	0
ATP10B	23120	broad.mit.edu	37	5	160029594	160029594	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:160029594T>C	ENST00000327245.5	-	21	4199	c.3353A>G	c.(3352-3354)tAc>tGc	p.Y1118C		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1118					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Y1118C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACGTTCTTGTAGAGGTAGTA	0.572000													5	34					0	0	0.000602	0	0
CYLD	1540	broad.mit.edu	37	16	50811793	50811793	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:50811793G>T	ENST00000540145.1	+	8	1494	c.1079G>T	c.(1078-1080)gGg>gTg	p.G360V	CYLD_ENST00000568704.2_Missense_Mutation_p.G357V|CYLD_ENST00000427738.3_Missense_Mutation_p.G360V|CYLD_ENST00000566206.1_Missense_Mutation_p.G357V|CYLD_ENST00000311559.9_Missense_Mutation_p.G360V|CYLD_ENST00000569418.1_Missense_Mutation_p.G357V|CYLD_ENST00000564326.1_Missense_Mutation_p.G357V|CYLD_ENST00000398568.2_Missense_Mutation_p.G357V			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	360	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G360L(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ACCTTAAATGGGTCTTCTGTT	0.299000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				4	60					0.00909568	0.00953171	0.009096	1	0
TBC1D31	93594	broad.mit.edu	37	8	124132400	124132400	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:124132400C>T	ENST00000287380.1	+	11	1632	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	TBC1D31_ENST00000518805.1_Silent_p.I147I|TBC1D31_ENST00000521676.1_Silent_p.I391I|TBC1D31_ENST00000327098.5_Silent_p.I514I|TBC1D31_ENST00000378080.2_Silent_p.I409I|TBC1D31_ENST00000522420.1_Silent_p.I409I|TBC1D31_ENST00000309336.3_Silent_p.I514I	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.I514I(1)									ACCAACTCATCTGTTTTGAAG	0.333000													6	6					0	0	0.001984	0	0
SORCS3	22986	broad.mit.edu	37	10	106970900	106970900	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:106970900A>C	ENST00000369701.3	+	17	2494	c.2267A>C	c.(2266-2268)tAt>tCt	p.Y756S	SORCS3_ENST00000369699.4_Missense_Mutation_p.Y42S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	756						integral to membrane	neuropeptide receptor activity	p.Y756S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACAGTGACTATGGGTATGAG	0.443000													16	24					0	0	0.008871	0	0
SCYL1	57410	broad.mit.edu	37	11	65304157	65304157	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:65304157G>C	ENST00000524944.1	+	13	1785	c.1752G>C	c.(1750-1752)ctG>ctC	p.L584L	SCYL1_ENST00000533862.1_Silent_p.L584L|SCYL1_ENST00000525364.1_Silent_p.L584L|SCYL1_ENST00000420247.2_Silent_p.L584L|SCYL1_ENST00000527630.1_Silent_p.L584L|SCYL1_ENST00000270176.5_Silent_p.L584L|SCYL1_ENST00000279270.6_Silent_p.L584L|SCYL1_ENST00000527009.1_Silent_p.L441L			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	584					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	p.L584L(1)		ovary(1)|skin(1)	2						CCTCCAAGCTGATCCGTTCGC	0.617000													11	166					0	0	0.000978	0	0
ALPK1	80216	broad.mit.edu	37	4	113353610	113353610	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:113353610C>G	ENST00000458497.1	+	11	3186	c.2907C>G	c.(2905-2907)atC>atG	p.I969M	ALPK1_ENST00000177648.9_Missense_Mutation_p.I969M|ALPK1_ENST00000504176.2_Missense_Mutation_p.I891M	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	969							ATP binding|protein serine/threonine kinase activity	p.I969M(1)|p.I969I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGAAAGAGATCCTTGAGGCTC	0.488000													18	68					0	0	0.008871	0	0
REV3L	5980	broad.mit.edu	37	6	111695285	111695285	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:111695285T>A	ENST00000435970.1	-	15	4855	c.4039A>T	c.(4039-4041)Agt>Tgt	p.S1347C	REV3L_ENST00000368805.1_Missense_Mutation_p.S1425C|REV3L_ENST00000358835.3_Missense_Mutation_p.S1425C|REV3L_ENST00000368802.3_Missense_Mutation_p.S1425C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1425					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.S1425C(1)|p.S1347C(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGCTGCTGACTGTCTTTGCAA	0.403000								DNA polymerases (catalytic subunits)					21	205					0	0	0.002780	0	0
WDR13	64743	broad.mit.edu	37	X	48458941	48458941	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:48458941G>T	ENST00000218056.5	+	5	1263	c.758G>T	c.(757-759)cGa>cTa	p.R253L		NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	253						cytoplasm|nucleus		p.R253L(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CGCTGCATCCGAGAGATCCCT	0.597000													12	18					1.08611e-07	1.34289e-07	0.000978	1	0
SLC28A3	64078	broad.mit.edu	37	9	86912205	86912205	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:86912205C>T	ENST00000376238.4	-	8	841	c.792G>A	c.(790-792)ctG>ctA	p.L264L	SLC28A3_ENST00000537648.1_Silent_p.L195L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	264					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.L264L(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGTGTACTCCAGAAAAGTCT	0.403000													8	59					0	0	0.004482	0	0
SLC43A3	29015	broad.mit.edu	37	11	57193057	57193057	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:57193057T>C	ENST00000395123.2	-	4	575	c.271A>G	c.(271-273)Atc>Gtc	p.I91V	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Missense_Mutation_p.I91V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.I91V|SLC43A3_ENST00000533524.1_Missense_Mutation_p.I104V|SLC43A3_ENST00000529554.1_Missense_Mutation_p.I91V	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	91					transmembrane transport	integral to membrane		p.I91V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CGGTCAAAGATGTAGCCAGTG	0.522000													10	84					0	0	0.000978	0	0
SCAF8	22828	broad.mit.edu	37	6	155145395	155145395	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:155145395G>T	ENST00000367178.3	+	17	2530	c.1954G>T	c.(1954-1956)Gtt>Ttt	p.V652F	SCAF8_ENST00000417268.1_Missense_Mutation_p.V652F|SCAF8_ENST00000367186.4_Missense_Mutation_p.V718F	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	652	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	p.V652F(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CGTGCCTACAGTTAGTTTAGT	0.453000													39	170					5.48756e-27	9.06028e-27	0.002852	1	0
XIRP2	129446	broad.mit.edu	37	2	168106557	168106557	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:168106557A>T	ENST00000409195.1	+	9	8744	c.8655A>T	c.(8653-8655)aaA>aaT	p.K2885N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2885N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2663N|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2710					actin cytoskeleton organization	cell junction	actin binding	p.K2885N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACATAAAAAATTGCCCCAGC	0.378000													29	111					0	0	0.008361	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821357	5821357	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:5821357C>G	ENST00000381095.3	-	5	1989	c.1362G>C	c.(1360-1362)gtG>gtC	p.V454V	NLGN4X_ENST00000538097.1_Silent_p.V454V|NLGN4X_ENST00000275857.6_Silent_p.V454V|NLGN4X_ENST00000381092.1_Silent_p.V454V|NLGN4X_ENST00000381093.2_Silent_p.V474V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	454					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.V454V(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGGCGGTGGCCACGGCGGGGG	0.602000													9	17					0	0	0.003163	0	0
PXDNL	137902	broad.mit.edu	37	8	52384753	52384753	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:52384753T>G	ENST00000356297.4	-	8	906	c.806A>C	c.(805-807)cAc>cCc	p.H269P	PXDNL_ENST00000543296.1_Missense_Mutation_p.H269P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	269	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.H269P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TTACTTGTTGTGTATCCAAAT	0.413000													17	128					0	0	0.008871	0	0
OR4A47	403253	broad.mit.edu	37	11	48511074	48511074	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:48511074G>T	ENST00000446524.1	+	1	806	c.730G>T	c.(730-732)Gtg>Ttg	p.V244L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V244L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CCACATGACTGTGGTTGTCTT	0.418000													71	236					1.15074e-40	1.99012e-40	0.003610	1	0
ITGAD	3681	broad.mit.edu	37	16	31422758	31422758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:31422758C>A	ENST00000389202.2	+	14	1676	c.1627C>A	c.(1627-1629)Ccg>Acg	p.P543T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	543					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P543T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATTGGGGCCCCGGGAGAGCA	0.647000													56	303					3.4779e-39	6.00528e-39	0.003610	1	0
LAMA4	3910	broad.mit.edu	37	6	112462651	112462651	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:112462651A>G	ENST00000230538.7	-	21	3119	c.2722T>C	c.(2722-2724)Tat>Cat	p.Y908H	LAMA4_ENST00000424408.2_Missense_Mutation_p.Y901H|LAMA4_ENST00000522006.1_Missense_Mutation_p.Y901H|LAMA4_ENST00000389463.4_Missense_Mutation_p.Y901H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	908	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.Y901H(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCCAAATTATAGACGTATACC	0.373000													5	79					0	0	0.000602	0	0
ZAN	7455	broad.mit.edu	37	7	100395410	100395410	+	RNA	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100395410A>G	ENST00000542585.1	+	0	8705				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTATATAtttatttatttgag	0.463000													8	28					0	0	0.004482	0	0
PLG	5340	broad.mit.edu	37	6	161158002	161158002	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:161158002C>A	ENST00000308192.9	+	14	1828	c.1765C>A	c.(1765-1767)Cca>Aca	p.P589T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	589	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.P589T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGTGGCCCACCCACATTCCTG	0.542000													17	77					0.00741294	0.00779071	0.007413	1	0
CSPG4	1464	broad.mit.edu	37	15	75968002	75968002	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:75968002G>T	ENST00000308508.5	-	10	6950	c.6858C>A	c.(6856-6858)ctC>ctA	p.L2286L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2286					angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.L2286L(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCACAGCTGTGAGCGGGATGG	0.662000													4	28					3.59834e-05	4.0588e-05	0.001168	1	0
KPRP	448834	broad.mit.edu	37	1	152733252	152733252	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:152733252G>A	ENST00000368773.1	+	2	1246	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	KPRP_ENST00000606109.1_Silent_p.L396L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	396	Pro-rich.					cytoplasm		p.L396L(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCACCACTGCAGCGATGTC	0.612000													25	86					0	0	0.006320	0	0
EPHA3	2042	broad.mit.edu	37	3	89498500	89498500	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:89498500A>T	ENST00000336596.2	+	14	2697	c.2472A>T	c.(2470-2472)ccA>ccT	p.P824P	EPHA3_ENST00000494014.1_Silent_p.P824P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	824	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding	p.P824P(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GAGAGAGACCATACTGGGAGA	0.438000										TSP Lung(6;0.00050)			25	193					0	0	0.005443	0	0
FAM135B	51059	broad.mit.edu	37	8	139151289	139151289	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:139151289T>A	ENST00000395297.1	-	18	4011	c.3841A>T	c.(3841-3843)Acc>Tcc	p.T1281S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1281								p.T1281S(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCCCTGAAGGTCAGCTGCAGT	0.408000										HNSCC(54;0.14)			14	174					0	0	0.007413	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625593	140625593	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140625593G>C	ENST00000231173.3	+	1	447	c.447G>C	c.(445-447)ggG>ggC	p.G149G		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		149	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G149G(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCTTGGGACTGTGTTTC	0.418000													19	107					0	0	0.002299	0	0
CD84	8832	broad.mit.edu	37	1	160535278	160535278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:160535278C>A	ENST00000368054.3	-	2	339	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	CD84_ENST00000368048.3_Nonsense_Mutation_p.E102*|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Nonsense_Mutation_p.E102*|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000311224.4_Nonsense_Mutation_p.E102*	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	102					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.M101_E102>I*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGCGTCTTCCATCCTCAGA	0.458000													23	330					7.92952e-12	1.09987e-11	0.003954	1	0
ALS2	57679	broad.mit.edu	37	2	202625565	202625565	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:202625565C>A	ENST00000467448.1	-	4	1291	c.1152G>T	c.(1150-1152)gaG>gaT	p.E384D	ALS2_ENST00000264276.6_Intron	NM_001135745.1	NP_001129217.1	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	0					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.E384D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TACAGTTCAACTCTAGACACA	0.338000													8	44					2.52707e-12	3.53208e-12	0.006214	1	0
TRPM6	140803	broad.mit.edu	37	9	77376931	77376931	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:77376931C>T	ENST00000451710.3	-	26	4893	c.4656G>A	c.(4654-4656)aaG>aaA	p.K1552K	TRPM6_ENST00000449912.2_Silent_p.K1547K|TRPM6_ENST00000376864.4_Silent_p.K1552K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.K1547K|TRPM6_ENST00000360774.1_Silent_p.K1552K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1552					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K1552K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTTACAGATCTTCATCAATT	0.348000													14	51					0	0	0.002450	0	0
ABCA8	10351	broad.mit.edu	37	17	66873755	66873755	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:66873755G>A	ENST00000269080.2	-	31	4121	c.3984C>T	c.(3982-3984)aaC>aaT	p.N1328N	ABCA8_ENST00000586539.1_Silent_p.N1368N|ABCA8_ENST00000430352.2_Silent_p.N1368N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1328	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.N1328N(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCACAGCGCGTTCTCCTGAG	0.597000													17	180					0	0	0.006122	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706788	33706788	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:33706788G>A	ENST00000269187.5	-	2	396	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Silent_p.F61F	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	61						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.F61F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CATAGCGGTAGAAAAGCTGTT	0.368000													41	98					0	0	0.003610	0	0
PRSS1	5644	broad.mit.edu	37	7	142460317	142460317	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:142460317C>T	ENST00000486171.1	+	5	549	c.532C>T	c.(532-534)Cct>Tct	p.P178S	PRSS1_ENST00000311737.7_Missense_Mutation_p.P164S			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	164	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.P164S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCTGGATGCTCCTGTGCTGAG	0.522000													52	798					0	0	0.003610	0	0
ABCA6	23460	broad.mit.edu	37	17	67111003	67111003	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:67111003C>A	ENST00000284425.2	-	13	1856	c.1682G>T	c.(1681-1683)tGt>tTt	p.C561F		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	561	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.C561F(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAATTGAGGACAGACGCCAGT	0.348000													19	122					2.94398e-08	3.71139e-08	0.007413	1	0
ACTN2	88	broad.mit.edu	37	1	236890981	236890981	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:236890981G>T	ENST00000366578.4	+	6	706	c.540G>T	c.(538-540)tgG>tgT	p.W180C	ACTN2_ENST00000542672.1_Missense_Mutation_p.W180C|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	180	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.W180C(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTGAAGCTGGAAAGATGGCC	0.527000													8	76					1.12685e-05	1.29239e-05	0.004482	1	0
SOWAHB	345079	broad.mit.edu	37	4	77817832	77817832	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:77817832G>T	ENST00000334306.2	-	1	1170	c.1171C>A	c.(1171-1173)Ctc>Atc	p.L391I		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	391								p.L391I(1)									AGATCTTGGAGGGACAGCTGA	0.572000													12	133					4.93089e-13	6.99023e-13	0.002450	1	0
FLG	2312	broad.mit.edu	37	1	152282982	152282982	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:152282982G>T	ENST00000368799.1	-	3	4415	c.4380C>A	c.(4378-4380)ccC>ccA	p.P1460P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1460	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P1460P(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCAGTGCTGGGTGCAGTCT	0.577000									Ichthyosis				61	423					6.83704e-37	1.17683e-36	0.003610	1	0
PLCG2	5336	broad.mit.edu	37	16	81960704	81960704	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:81960704G>T	ENST00000359376.3	+	23	2649	c.2435G>T	c.(2434-2436)gGa>gTa	p.G812V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	812	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.G812V(2)		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						GGAGACTATGGAACCAGGATC	0.547000													36	198					6.07928e-31	1.02541e-30	0.009718	1	0
KCND3	3752	broad.mit.edu	37	1	112318702	112318702	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:112318702C>A	ENST00000369697.1	-	6	1977	c.1908G>T	c.(1906-1908)ttG>ttT	p.L636F	KCND3_ENST00000315987.2_Missense_Mutation_p.L655F|KCND3_ENST00000302127.4_Missense_Mutation_p.L636F			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	655						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.L636F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGTGGTTTTACAAGGCGGAGA	0.602000													10	84					3.07112e-06	3.58625e-06	0.000978	1	0
KRT72	140807	broad.mit.edu	37	12	52985302	52985302	+	Silent	SNP	G	G	A	rs112771714	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:52985302G>A	ENST00000293745.2	-	5	994	c.909C>T	c.(907-909)taC>taT	p.Y303Y	KRT72_ENST00000354310.4_Silent_p.Y303Y|KRT72_ENST00000537672.2_Silent_p.Y303Y|KRT72_ENST00000398066.3_Silent_p.Y115Y	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	303	Coil 2.|Rod.					keratin filament	structural molecule activity	p.Y303Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CAATCTCCTCGTACTGGGCAC	0.587000													9	79					0	0	0.006214	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718399	142718399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:142718399G>A	ENST00000381779.4	-	2	751	c.526C>T	c.(526-528)Cga>Tga	p.R176*	SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.R176*|SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.R176*	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	176						integral to membrane		p.R176*(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCGAATCGGAAAATATTA	0.408000													19	92					0	0	0.001882	0	0
GABPA	2551	broad.mit.edu	37	21	27141328	27141328	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:27141328G>T	ENST00000354828.3	+	10	1677	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W	GABPA_ENST00000400075.3_Missense_Mutation_p.G384W	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	384					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G384W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TTATTACGATGGGGACATGAT	0.343000													19	118					1.01871e-10	1.35787e-10	0.008871	1	0
FAM27L	284123	broad.mit.edu	37	17	21826202	21826202	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:21826202G>T	ENST00000426869.3	+	0	385					NR_028336.1				family with sequence similarity 27-like									p.G61C(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ATGTTTTCACGGCTCTTCTCT	0.542000													16	50					4.7546e-09	6.12106e-09	0.004007	1	0
COL14A1	7373	broad.mit.edu	37	8	121209165	121209165	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:121209165G>T	ENST00000297848.3	+	6	842	c.572G>T	c.(571-573)gGc>gTc	p.G191V	COL14A1_ENST00000537875.1_Missense_Mutation_p.G191V|COL14A1_ENST00000309791.4_Missense_Mutation_p.G191V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.G191V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	191	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.G191V(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCGATGTGGGCTCAGAGAAG	0.388000													81	214					6.71967e-41	1.16396e-40	0.003610	1	0
SHF	90525	broad.mit.edu	37	15	45491056	45491056	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:45491056C>T	ENST00000290894.8	-	2	711	c.217G>A	c.(217-219)Ggg>Agg	p.G73R	RP11-519G16.2_ENST00000560034.1_RNA|CTD-2651B20.7_ENST00000568314.1_RNA|SHF_ENST00000318390.6_Missense_Mutation_p.G130R	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	73								p.G73R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TGTTTTGGCCCATTAGCCACG	0.587000											OREG0023105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	157					0	0	0.003610	0	0
CYP11B2	1585	broad.mit.edu	37	8	143995724	143995724	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:143995724T>A	ENST00000323110.2	-	5	912	c.910A>T	c.(910-912)Atc>Ttc	p.I304F		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	304					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.I304F(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TTGGCCTTGATGGCTTCTAGT	0.582000									Familial Hyperaldosteronism type I				29	56					0	0	0.002445	0	0
MYO5A	4644	broad.mit.edu	37	15	52646197	52646197	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:52646197C>T	ENST00000399231.3	-	26	3681	c.3438G>A	c.(3436-3438)aaG>aaA	p.K1146K	MYO5A_ENST00000358212.6_Silent_p.K1146K|MYO5A_ENST00000356338.6_Silent_p.K1146K|MYO5A_ENST00000399233.2_Silent_p.K1146K|MYO5A_ENST00000553916.1_Silent_p.K1146K	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1146					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1146K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GAGGTACCTTCTTCTCACTTG	0.478000													11	75					0	0	0.001855	0	0
CX3CL1	6376	broad.mit.edu	37	16	57413650	57413650	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:57413650G>T	ENST00000565912.1	+	1	2767	c.61G>T	c.(61-63)Ggc>Tgc	p.G21C	CX3CL1_ENST00000563383.1_Missense_Mutation_p.G65C|CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000006053.6_Missense_Mutation_p.G59C			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	59					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	p.G59C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCATCATGCGGCAAACGCGC	0.512000													10	88					0.00010058	0.000111949	0.001368	1	0
ZNF747	65988	broad.mit.edu	37	16	30544384	30544384	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:30544384C>G	ENST00000252799.3	-	2	1239	c.572G>C	c.(571-573)gGc>gCc	p.G191A	ZNF747_ENST00000568028.1_Silent_p.G143G|ZNF747_ENST00000569360.1_Silent_p.G143G|ZNF747_ENST00000395094.3_Missense_Mutation_p.G190A|ZNF747_ENST00000535210.1_Silent_p.G143G	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	191					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	p.G191A(1)		kidney(1)|lung(3)|prostate(1)	5						GAGCCTTCAGCCCAGGAGACC	0.647000													13	105					0	0	0.004007	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229801	87229801	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:87229801C>A	ENST00000297524.3	-	3	1180	c.1077G>T	c.(1075-1077)ttG>ttT	p.L359F	SLC7A13_ENST00000419776.2_Missense_Mutation_p.L350F	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	359						integral to membrane	amino acid transmembrane transporter activity	p.L359F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TATAGTTTATCAAATCAATTA	0.323000													13	49					3.35478e-16	4.98202e-16	0.003163	1	0
NPY2R	4887	broad.mit.edu	37	4	156135639	156135639	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:156135639T>A	ENST00000329476.3	+	2	1037	c.548T>A	c.(547-549)cTg>cAg	p.L183Q	NPY2R_ENST00000506608.1_Missense_Mutation_p.L183Q	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	183					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.L183Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GCAAGTCCCCTGGCCATCTTC	0.542000													6	60					0	0	0.001984	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476838	110476838	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:110476838G>C	ENST00000378402.5	+	49	7881	c.7777G>C	c.(7777-7779)Gat>Cat	p.D2593H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2593					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2595H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAACCACCCTGATGGGCCATC	0.453000										HNSCC(38;0.096)			11	116					0	0	0.000978	0	0
RBFOX2	23543	broad.mit.edu	37	22	36177704	36177704	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:36177704C>G	ENST00000405409.2	-	3	710	c.342G>C	c.(340-342)ctG>ctC	p.L114L	RBFOX2_ENST00000438146.2_Silent_p.L184L|RBFOX2_ENST00000262829.7_Silent_p.L113L|RBFOX2_ENST00000416721.2_Silent_p.L113L|RBFOX2_ENST00000414461.2_Silent_p.L113L|RBFOX2_ENST00000397303.2_Silent_p.L94L|RBFOX2_ENST00000359369.4_Silent_p.L93L|RBFOX2_ENST00000449924.2_Silent_p.L113L	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	123					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	p.L114L(1)		endometrium(4)|large_intestine(7)|lung(7)	18						TAGAGACATGCAGCCGTTTCG	0.458000													74	237					0	0	0.003610	0	0
CD163	9332	broad.mit.edu	37	12	7654059	7654059	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:7654059C>A	ENST00000359156.4	-	3	336		c.e3-1		CD163_ENST00000396620.3_Splice_Site|CD163_ENST00000432237.2_Splice_Site|CD163_ENST00000541972.1_Splice_Site	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule						acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.?(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCTGTTCCTCCTGCAACAATG	0.418000													19	164					5.45024e-15	7.96405e-15	0.003330	1	0
ASB15	142685	broad.mit.edu	37	7	123267198	123267198	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:123267198G>T	ENST00000451558.1	+	11	1253	c.732G>T	c.(730-732)gcG>gcT	p.A244A	ASB15_ENST00000434204.1_Silent_p.A244A|ASB15_ENST00000275699.3_Silent_p.A244A|ASB15_ENST00000451215.1_Silent_p.A244A|ASB15_ENST00000540573.1_Silent_p.A244A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	244					intracellular signal transduction			p.A244A(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATGATGGGGCGTCGGTGCTGT	0.493000													53	145					5.73332e-34	9.80675e-34	0.003610	1	0
SYNE1	23345	broad.mit.edu	37	6	152809592	152809592	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:152809592T>A	ENST00000367255.5	-	12	1587	c.986A>T	c.(985-987)cAa>cTa	p.Q329L	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q329L|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q329L|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q336L|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q329L|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q336L|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q329L|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q329L|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q319L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	329					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.Q329L(2)|p.Q336L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTCTCAAATTGTTCTATCCA	0.299000										HNSCC(10;0.0054)			10	61					0	0	0.006214	0	0
SPEF2	79925	broad.mit.edu	37	5	35795874	35795874	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:35795874A>T	ENST00000440995.2	+	33	4792	c.4792A>T	c.(4792-4794)Aat>Tat	p.N1598Y	SPEF2_ENST00000303129.4_Missense_Mutation_p.N400Y|SPEF2_ENST00000356031.3_Missense_Mutation_p.N1603Y|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1603					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.N1603Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTCCATTTAATAGGCAGGA	0.323000													18	277					0	0	0.001882	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205138	151205138	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:151205138G>T	ENST00000409426.1	+	6	1007	c.562G>T	c.(562-564)Gag>Tag	p.E188*	PIP5K1A_ENST00000368888.4_Nonsense_Mutation_p.E200*|PIP5K1A_ENST00000368890.4_Nonsense_Mutation_p.E187*|PIP5K1A_ENST00000441902.2_Nonsense_Mutation_p.E188*			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	200	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.E200*(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAACATAAAGAGGCGGAATT	0.502000													5	133					3.59834e-05	4.0588e-05	0.001168	1	0
TULP2	7288	broad.mit.edu	37	19	49387023	49387023	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:49387023G>C	ENST00000221399.3	-	11	1407	c.1263C>G	c.(1261-1263)gtC>gtG	p.V421V		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	421					visual perception	cytoplasm|extracellular region		p.V421V(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TTAGTGGCTGGACATTGATTC	0.542000													3	26					0	0	0.001168	0	0
MYH1	4619	broad.mit.edu	37	17	10399727	10399727	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:10399727T>A	ENST00000226207.5	-	34	4890	c.4796A>T	c.(4795-4797)gAg>gTg	p.E1599V	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1599						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1599V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGCATGGACTCCACGATTCT	0.443000													26	229					0	0	0.004656	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931973	155931973	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:155931973T>A	ENST00000368316.1	-	14	1528	c.1058A>T	c.(1057-1059)cAg>cTg	p.Q353L	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.Q380L|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.Q381L|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.Q382L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.Q353L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	381	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.Q353L(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GATGCACTCCTGTACCCCGTG	0.642000													20	162					0	0	0.004656	0	0
KCNK2	3776	broad.mit.edu	37	1	215259917	215259917	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:215259917C>A	ENST00000444842.2	+	2	403	c.253C>A	c.(253-255)Cag>Aag	p.Q85K	KCNK2_ENST00000391895.2_Missense_Mutation_p.Q81K|KCNK2_ENST00000391894.2_Missense_Mutation_p.Q70K	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	85							outward rectifier potassium channel activity	p.Q70K(1)|p.Q85K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	AGCATTGGAGCAGCCTCATGA	0.463000													46	67					8.20599e-20	1.27222e-19	0.002852	1	0
ANPEP	290	broad.mit.edu	37	15	90349374	90349374	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:90349374G>T	ENST00000300060.6	-	2	754	c.441C>A	c.(439-441)ccC>ccA	p.P147P		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	147	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.P147P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CAATGTCGGGGGGCTGGGAGC	0.612000													18	47					5.03518e-11	6.78601e-11	0.007413	1	0
GALNTL6	442117	broad.mit.edu	37	4	173803979	173803979	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:173803979G>A	ENST00000506823.1	+	8	1619	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R304Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	321	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R321Q(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCTGTGGATCGGAAATGGTTT	0.423000													33	154					0	0	0.009535	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684224	75684224	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:75684224C>A	ENST00000370855.5	-	17	1593	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y	SLC44A5_ENST00000535611.1_Missense_Mutation_p.D364Y|SLC44A5_ENST00000370859.3_Missense_Mutation_p.D494Y	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	494						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.D494Y(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGGATGTCATCAGGTTTTTTC	0.423000													16	164					1.5739e-10	2.08771e-10	0.004007	1	0
MAT1A	4143	broad.mit.edu	37	10	82045298	82045298	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:82045298T>A	ENST00000372213.3	-	2	399	c.139A>T	c.(139-141)Aag>Tag	p.K47*		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	47					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.K47*(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGGTCTTGCTTGAGATGGGCA	0.463000													6	103					0	0	0.001984	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247247	89247247	+	RNA	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:89247247C>A	ENST00000496168.1	-	0	228																											TACCTGGGAGCCAGAGCAGCA	0.512000													57	128					7.59065e-32	1.28629e-31	0.003610	1	0
NTRK1	4914	broad.mit.edu	37	1	156849069	156849069	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:156849069G>A	ENST00000368196.3	+	14	2063	c.1943G>A	c.(1942-1944)cGc>cAc	p.R648H	NTRK1_ENST00000358660.3_Missense_Mutation_p.R651H|NTRK1_ENST00000392302.2_Missense_Mutation_p.R618H|NTRK1_ENST00000524377.1_Missense_Mutation_p.R654H	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	654	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R618H(1)|p.R654H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTGGCCACACGCAACTGTCTA	0.597000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			9	92					0	0	0.006214	0	0
ITGAX	3687	broad.mit.edu	37	16	31371127	31371127	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:31371127C>A	ENST00000268296.4	+	6	658	c.537C>A	c.(535-537)agC>agA	p.S179R	ITGAX_ENST00000562522.1_Missense_Mutation_p.S179R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	179	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.S179R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGTGATAAGCCAGTTCCAGA	0.587000													21	109					7.88262e-20	1.22382e-19	0.003330	1	0
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418000									Familial Paragangliomas				3	141					0	0	0.004672	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626431	140626431	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140626431C>A	ENST00000231173.3	+	1	1285	c.1285C>A	c.(1285-1287)Cca>Aca	p.P429T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P429K(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGGGGACTCCAAGGCTGAA	0.552000													32	118					9.04072e-19	1.38785e-18	0.003271	1	0
SDC1	6382	broad.mit.edu	37	2	20402564	20402564	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:20402564T>A	ENST00000381150.1	-	6	1286	c.896A>T	c.(895-897)tAc>tTc	p.Y299F	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000254351.4_Missense_Mutation_p.Y299F|SDC1_ENST00000403076.1_Intron	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	299					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.Y299F(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGGCTTCTGGTAGGCCCCGCC	0.597000													65	90					0	0	0.003610	0	0
SLC22A2	6582	broad.mit.edu	37	6	160677683	160677683	+	Missense_Mutation	SNP	A	A	G	rs8177509		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:160677683A>G	ENST00000366952.1	-	4	1899	c.418T>C	c.(418-420)Ttt>Ctt	p.F140L	SLC22A2_ENST00000366953.3_Missense_Mutation_p.F161L|SLC22A2_ENST00000491092.1_Intron			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	161					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.F161L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GAGCCAATAAAGAATCCTACA	0.458000													32	93					0	0	0.005524	0	0
DHDDS	79947	broad.mit.edu	37	1	26784343	26784343	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:26784343A>T	ENST00000360009.2	+	7	681	c.604A>T	c.(604-606)Atc>Ttc	p.I202F	DHDDS_ENST00000236342.7_Missense_Mutation_p.I202F|DHDDS_ENST00000526219.1_Missense_Mutation_p.I163F|DHDDS_ENST00000525682.2_Missense_Mutation_p.I168F	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	202							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	p.I202F(1)		breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCATCCTGACATCTTGATACG	0.458000													48	158					0	0	0.003610	0	0
DGKI	9162	broad.mit.edu	37	7	137080403	137080403	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:137080403G>T	ENST00000453654.1	-	32	2568	c.2029C>A	c.(2029-2031)Cgg>Agg	p.R677R	DGKI_ENST00000288490.5_Silent_p.R1008R|DGKI_ENST00000446122.1_Silent_p.R990R|DGKI_ENST00000424189.2_Silent_p.R1021R|DGKI_ENST00000494390.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1008					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R1008R(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CACACAGCCCGGTTCCGCTGG	0.562000													15	64					2.35188e-11	3.19727e-11	0.006122	1	0
TTN	7273	broad.mit.edu	37	2	179438511	179438511	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179438511A>G	ENST00000589042.1	-	326	72572	c.72348T>C	c.(72346-72348)aaT>aaC	p.N24116N	TTN_ENST00000342992.6_Silent_p.N21548N|TTN_ENST00000342175.6_Silent_p.N15243N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.N22475N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.N15051N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Silent_p.N15176N|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22475	Fibronectin type-III 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N15051N(1)|p.N15176N(1)|p.N21546N(1)|p.N15243N(1)|p.N21548N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTTTGACATTGAAAATGT	0.438000													9	142					0	0	0.006214	0	0
DMD	1756	broad.mit.edu	37	X	32662374	32662374	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:32662374C>A	ENST00000357033.4	-	11	1412	c.1206G>T	c.(1204-1206)ttG>ttT	p.L402F	DMD_ENST00000378677.2_Missense_Mutation_p.L398F|DMD_ENST00000288447.4_Missense_Mutation_p.L394F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	402					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.L397F(1)|p.L398F(1)|p.L402F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTTACTTCCCAATTGTAGAA	0.403000													23	60					2.89027e-11	3.9049e-11	0.002299	1	0
CYP17A1	1586	broad.mit.edu	37	10	104593791	104593791	+	Splice_Site	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:104593791A>G	ENST00000369887.3	-	4	925		c.e4+1		CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1						androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	TCTATCACCTACCTTGTAATT	0.363000													11	20					0	0	0.001855	0	0
CDH18	1016	broad.mit.edu	37	5	19838966	19838966	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:19838966C>T	ENST00000507958.1	-	5	1120	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	CDH18_ENST00000506372.1_Missense_Mutation_p.E44K|CDH18_ENST00000274170.4_Missense_Mutation_p.E44K|CDH18_ENST00000502796.1_Missense_Mutation_p.E44K|CDH18_ENST00000511273.1_Missense_Mutation_p.E44K|CDH18_ENST00000382275.1_Missense_Mutation_p.E44K			Q13634	CAD18_HUMAN	cadherin 18, type 2	44					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E44K(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACTTCGGTTTCACCTTCAATG	0.448000													4	83					0	0	0.000602	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627526	234627526	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:234627526C>T	ENST00000373409.3	+	1	103	c.60C>T	c.(58-60)ctC>ctT	p.L20L	UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	NM_007120.2	NP_009051.1												p.L20L(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TGCTCCTCCTCAGTGTCCAGC	0.657000											OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	39					0	0	0.008291	0	0
CNTN6	27255	broad.mit.edu	37	3	1445042	1445042	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:1445042C>A	ENST00000446702.2	+	23	3654	c.3027C>A	c.(3025-3027)acC>acA	p.T1009T	CNTN6_ENST00000539053.1_Silent_p.T937T|CNTN6_ENST00000350110.2_Silent_p.T1009T			Q9UQ52	CNTN6_HUMAN	contactin 6	1009					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.T1009T(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACCTAGCACCCATTTTCTTT	0.299000													6	28					0.00448238	0.00473357	0.004482	1	0
TMEM132D	121256	broad.mit.edu	37	12	130185164	130185164	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:130185164G>A	ENST00000422113.2	-	2	485	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	53						integral to membrane		p.I53I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCGCGTTGTTGATGTGGTAGG	0.547000													13	68					0	0	0.002450	0	0
CDH22	64405	broad.mit.edu	37	20	44815276	44815276	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:44815276C>T	ENST00000372262.3	-	9	2014	c.1614G>A	c.(1612-1614)ctG>ctA	p.L538L	CDH22_ENST00000537909.1_Silent_p.L538L	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	538	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L538L(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTTCAGGCACCAGGCGGAAAT	0.592000													9	112					0	0	0.006214	0	0
RABGGTA	5875	broad.mit.edu	37	14	24738353	24738353	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:24738353C>G	ENST00000399409.3	-	6	1131	c.648G>C	c.(646-648)caG>caC	p.Q216H	RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000216840.6_Missense_Mutation_p.Q216H	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	216					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	p.Q216H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		AGAAGGCATTCTGCACCAGCT	0.587000													4	20					0	0	0.000602	0	0
ZEB2	9839	broad.mit.edu	37	2	145156311	145156311	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:145156311G>T	ENST00000558170.2	-	8	3627	c.2443C>A	c.(2443-2445)Cct>Act	p.P815T	ZEB2_ENST00000409487.3_Missense_Mutation_p.P815T|ZEB2_ENST00000303660.4_Missense_Mutation_p.P815T|ZEB2_ENST00000539609.3_Missense_Mutation_p.P791T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	815						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.P815N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AAGTCTAAAGGCTCAGCCTGG	0.388000													59	114					7.10663e-31	1.19685e-30	0.003610	1	0
MFN2	9927	broad.mit.edu	37	1	12061527	12061527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:12061527C>T	ENST00000235329.5	+	9	1208	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	MFN2_ENST00000444836.1_Nonsense_Mutation_p.Q296*	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	296					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.Q296*(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GGATCGATCCCAGGCCGGGGA	0.577000													6	28					0	0	0.001984	0	0
FAM27L	284123	broad.mit.edu	37	17	21826180	21826180	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:21826180G>T	ENST00000426869.3	+	0	363					NR_028336.1				family with sequence similarity 27-like									p.K53N(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		CCACGTCCAAGAAGATGGCTG	0.532000													7	88					1.58986e-06	1.86651e-06	0.008291	1	0
AFF2	2334	broad.mit.edu	37	X	147919180	147919180	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:147919180C>A	ENST00000370460.2	+	5	1575	c.1096C>A	c.(1096-1098)Cat>Aat	p.H366N	AFF2_ENST00000286437.5_Intron|AFF2_ENST00000370458.1_Intron|AFF2_ENST00000370457.5_Intron|AFF2_ENST00000342251.3_Intron	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	366					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.H366N(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGATGACCCATTCCTGGCC	0.423000													9	33					3.09899e-07	3.76355e-07	0.004482	1	0
COX5B	1329	broad.mit.edu	37	2	98263846	98263846	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:98263846A>T	ENST00000258424.2	+	3	264	c.217A>T	c.(217-219)Acc>Tcc	p.T73S	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	73					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding	p.T73S(1)		endometrium(1)|lung(1)|urinary_tract(1)	3						AGCTTCAGGCACCAGGGAAGA	0.398000													25	221					0	0	0.004656	0	0
EYA4	2070	broad.mit.edu	37	6	133834083	133834083	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:133834083G>T	ENST00000367895.5	+	16	1872	c.1408G>T	c.(1408-1410)Ggt>Tgt	p.G470C	EYA4_ENST00000355286.6_Missense_Mutation_p.G447C|EYA4_ENST00000355167.3_Missense_Mutation_p.G470C|EYA4_ENST00000525849.1_Missense_Mutation_p.G447C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Missense_Mutation_p.G422C|EYA4_ENST00000531901.1_Missense_Mutation_p.G476C|EYA4_ENST00000452339.2_Missense_Mutation_p.G416C|EYA4_ENST00000431403.2_Missense_Mutation_p.G470C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	470					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.G470C(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTTGCCAACAGGTGTAAGAGG	0.398000													25	49					4.72057e-08	5.88994e-08	0.003954	1	0
MOXD1	26002	broad.mit.edu	37	6	132619061	132619061	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:132619061T>A	ENST00000367963.3	-	11	1660	c.1542A>T	c.(1540-1542)caA>caT	p.Q514H	MOXD1_ENST00000336749.3_Missense_Mutation_p.Q446H	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	514					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.Q446H(1)|p.Q514H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GGTTTTTATATTGCTTGGGAC	0.368000													8	60					0	0	0.004482	0	0
THUMPD2	80745	broad.mit.edu	37	2	39993217	39993217	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:39993217C>A	ENST00000505747.1	-	5	810	c.783G>T	c.(781-783)gtG>gtT	p.V261V	THUMPD2_ENST00000454352.2_3'UTR|THUMPD2_ENST00000260619.6_Silent_p.V231V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	261	THUMP.						methyltransferase activity	p.V231V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GAATCCCCACCACAGAGTAAA	0.333000													57	77					1.7104e-27	2.83252e-27	0.003610	1	0
TMTC1	83857	broad.mit.edu	37	12	29709830	29709830	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:29709830G>T	ENST00000256062.5	-	10	1785	c.1312C>A	c.(1312-1314)Cag>Aag	p.Q438K	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.Q546K|TMTC1_ENST00000551659.1_Missense_Mutation_p.Q608K|TMTC1_ENST00000552618.1_Missense_Mutation_p.Q570K|TMTC1_ENST00000381224.2_Missense_Mutation_p.Q500K	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	546						integral to membrane	binding	p.Q438K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CGGTTATGCTGTGGATGGAGC	0.507000													26	79					2.65835e-16	3.96395e-16	0.007291	1	0
LIFR	3977	broad.mit.edu	37	5	38523600	38523600	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:38523600C>T	ENST00000263409.4	-	5	644	c.482G>A	c.(481-483)gGt>gAt	p.G161D	LIFR_ENST00000453190.2_Missense_Mutation_p.G161D|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	161					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.G161D(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AAAAACTGAACCCCTGTCGTT	0.358000			T	PLAG1	salivary adenoma								11	117					0	0	0.000978	0	0
TMEM136	219902	broad.mit.edu	37	11	120201131	120201131	+	Silent	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:120201131A>C	ENST00000375095.2	+	3	886	c.645A>C	c.(643-645)gcA>gcC	p.A215A	TMEM136_ENST00000314475.2_Silent_p.A237A|TMEM136_ENST00000529187.1_Silent_p.A118A|TMEM136_ENST00000531346.1_3'UTR	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	215						integral to membrane		p.A237A(1)|p.A118A(1)		endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GGCGCTTTGCATGGAGGAAGA	0.512000													6	25					0	0	0.001168	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135825841	135825841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:135825841G>T	ENST00000250617.6	-	5	1769	c.564C>A	c.(562-564)taC>taA	p.Y188*	ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.Y34*|ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.Y34*|ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.Y34*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	188	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.Y188*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTCGTGTGACGTAAATGATGT	0.423000													58	120					2.02627e-32	3.44435e-32	0.003610	1	0
OR9Q2	219957	broad.mit.edu	37	11	57958655	57958655	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:57958655T>C	ENST00000311591.3	+	1	750	c.693T>C	c.(691-693)gcT>gcC	p.A231A		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A231A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TCCACTCTGCTGGAGGCCGGG	0.522000													12	89					0	0	0.001368	0	0
GRIK3	2899	broad.mit.edu	37	1	37271748	37271748	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:37271748C>A	ENST00000373091.3	-	14	2287	c.2271G>T	c.(2269-2271)ggG>ggT	p.G757G	GRIK3_ENST00000373093.4_Silent_p.G757G	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	757					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.G757G(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CAATGAGGCCCCCGATCTGGG	0.662000													7	83					2.17888e-05	2.48333e-05	0.006214	1	0
NOTCH4	4855	broad.mit.edu	37	6	32168733	32168733	+	Missense_Mutation	SNP	G	G	A	rs138572849		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:32168733G>A	ENST00000375023.3	-	23	4328	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1397					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.P1397L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCGGGATGCCGGGTGGTCAGG	0.632000													9	44					0	0	0.006214	0	0
LAYN	143903	broad.mit.edu	37	11	111420460	111420460	+	Silent	SNP	G	G	T	rs143228822		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:111420460G>T	ENST00000375614.2	+	3	837	c.501G>T	c.(499-501)cgG>cgT	p.R167R	LAYN_ENST00000533265.1_Silent_p.R167R|LAYN_ENST00000528924.1_Intron|LAYN_ENST00000525126.1_Silent_p.R175R|LAYN_ENST00000375615.3_Silent_p.R175R|LAYN_ENST00000436913.2_Intron	NM_178834.4	NP_849156.1	Q6UX15	LAYN_HUMAN	layilin	175	C-type lectin.					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	p.R167H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		ATGATGACCGGTGCAACATGA	0.502000													11	56					1.58986e-06	1.86651e-06	0.008291	1	0
EPGN	255324	broad.mit.edu	37	4	75178861	75178861	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:75178861T>A	ENST00000413830.1	+	4	442	c.381T>A	c.(379-381)gtT>gtA	p.V127V	EPGN_ENST00000502358.1_Intron|EPGN_ENST00000509145.1_Intron|EPGN_ENST00000503098.1_Intron|EPGN_ENST00000332112.4_Silent_p.V118V|EPGN_ENST00000514968.1_Intron|EPGN_ENST00000505212.1_Intron	NM_001270989.1	NP_001257918.1	Q6UW88	EPGN_HUMAN	epithelial mitogen	127					activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity	p.V118V(1)		breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			GTTTTCTTGTTATTTTTTACT	0.318000													7	46					0	0	0.001984	0	0
ATG4B	23192	broad.mit.edu	37	2	242607955	242607955	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:242607955G>T	ENST00000405546.3	+	10	1314	c.811_splice	c.e10-1	p.G271_splice	ATG4B_ENST00000404914.3_Splice_Site_p.G271_splice|ATG4B_ENST00000402096.1_Splice_Site_p.G197_splice|ATG4B_ENST00000396411.3_Splice_Site_p.G197_splice|ATG4B_ENST00000474739.2_Splice_Site_p.G257_splice			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	271					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		ATCCTCCCAGGTGAGGAGCTC	0.647000													9	7					3.09899e-07	3.76355e-07	0.004482	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896172	89896172	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:89896172G>T	ENST00000534061.1	+	9	1275	c.1045G>T	c.(1045-1047)Gtt>Ttt	p.V349F	NAALAD2_ENST00000321955.4_Missense_Mutation_p.V316F|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	349	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.V349F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTACAATGTAGTTGGAACTAT	0.269000													7	74					0.000274275	0.000300083	0.004482	1	0
COL14A1	7373	broad.mit.edu	37	8	121216051	121216051	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:121216051G>T	ENST00000297848.3	+	9	1251	c.981G>T	c.(979-981)gtG>gtT	p.V327V	COL14A1_ENST00000537875.1_Silent_p.V327V|COL14A1_ENST00000309791.4_Silent_p.V327V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.V232V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	327	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.V327V(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACACAGTTGTGGAGAGTCTGA	0.463000													30	48					2.46105e-21	3.91547e-21	0.002096	1	0
TUBB1	81027	broad.mit.edu	37	20	57599398	57599398	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:57599398C>G	ENST00000217133.1	+	4	1185	c.916C>G	c.(916-918)Cgc>Ggc	p.R306G		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	306					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	p.R306V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTGTGACCTCCGCCGTGGCCG	0.632000													4	18					0	0	0.000602	0	0
CEL	1056	broad.mit.edu	37	9	135940545	135940545	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:135940545C>T	ENST00000372080.4	+	4	484	c.468C>T	c.(466-468)cgC>cgT	p.R156R	CEL_ENST00000351304.7_Silent_p.R153R	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	153					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	p.R156R(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCGCCACACGCGGAAACGTCA	0.607000													71	326					0	0	0.003610	0	0
ADAM28	10863	broad.mit.edu	37	8	24193068	24193068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:24193068G>T	ENST00000265769.4	+	14	1591	c.1481G>T	c.(1480-1482)gGc>gTc	p.G494V	ADAM28_ENST00000397649.3_Missense_Mutation_p.G241V|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.G494V|ADAM28_ENST00000540823.1_Missense_Mutation_p.G261V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	494	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G494V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAAGTCAATGGCTTCCCTTGC	0.527000													13	29					2.27111e-07	2.77355e-07	0.001368	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994820	143994820	+	Silent	SNP	G	G	T	rs140463031		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:143994820G>T	ENST00000323110.2	-	6	1004	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	334					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P334P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTGCACGTCGGGGTTCCGAG	0.637000									Familial Hyperaldosteronism type I				54	44					2.27459e-33	3.87852e-33	0.003610	1	0
TTK	7272	broad.mit.edu	37	6	80745021	80745021	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:80745021G>T	ENST00000509894.1	+	16	2637	c.1808G>T	c.(1807-1809)tGt>tTt	p.C603F	TTK_ENST00000230510.3_Missense_Mutation_p.C603F|TTK_ENST00000369798.2_Missense_Mutation_p.C604F			P33981	TTK_HUMAN	TTK protein kinase	604	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C604F(1)|p.C588F(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GTAATGGAGTGTGGAAATATT	0.328000													8	82					0.000442599	0.000482796	0.006214	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647258	33647258	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:33647258G>T	ENST00000558425.1	-	2	341	c.342C>A	c.(340-342)taC>taA	p.Y114*																								GTTTCACACAGTAATACACAG	0.557000													26	242					1.50538e-07	1.85082e-07	0.006320	1	0
MAML1	9794	broad.mit.edu	37	5	179193482	179193482	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:179193482A>T	ENST00000292599.3	+	2	1734	c.1471A>T	c.(1471-1473)Agt>Tgt	p.S491C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	491					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	p.S491C(1)|p.S528C(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACCTGCTGAGTCACCAGCC	0.527000													20	37					0	0	0.008361	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938328	2938328	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:2938328T>A	ENST00000378404.2	+	1	283	c.78T>A	c.(76-78)tcT>tcA	p.S26S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	26						cytoplasm|cytoskeleton		p.S26S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CGGGCCTGTCTGGGGAGTTTG	0.582000													8	40					0	0	0.006214	0	0
EPPK1	83481	broad.mit.edu	37	8	144940309	144940309	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:144940309C>G	ENST00000525985.1	-	2	7184	c.7113G>C	c.(7111-7113)gaG>gaC	p.E2371D				P58107	EPIPL_HUMAN	epiplakin 1	2371						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCGGTTCATCTCCTCGTCGA	0.677000													8	844					0	0	0.006214	0	0
URGCP	55665	broad.mit.edu	37	7	43916853	43916853	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:43916853C>G	ENST00000336086.6	-	4	4316	c.2080G>C	c.(2080-2082)Gag>Cag	p.E694Q	URGCP_ENST00000447717.3_Missense_Mutation_p.E694Q|URGCP_ENST00000223341.7_Missense_Mutation_p.E694Q|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.E737Q|URGCP_ENST00000443736.1_Missense_Mutation_p.E694Q|URGCP_ENST00000402306.3_Missense_Mutation_p.E728Q|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	737					cell cycle	centrosome|nucleus	GTP binding	p.E694Q(1)|p.E737Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGAAGCCCTCAGCCACTGTG	0.602000													5	129					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152686025	152686025	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:152686025C>A	ENST00000367255.5	-	63	10703	c.10102G>T	c.(10102-10104)Gat>Tat	p.D3368Y	SYNE1_ENST00000341594.5_Missense_Mutation_p.D3407Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.D3368Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.D3375Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3375Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3368					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.D3368Y(2)|p.D3375Y(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCCCACATATCCTTCACACTC	0.438000										HNSCC(10;0.0054)			35	119					6.97489e-18	1.06326e-17	0.004878	1	0
TLR7	51284	broad.mit.edu	37	X	12904107	12904107	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:12904107C>T	ENST00000380659.3	+	3	619	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	160					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	p.I160I(1)		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)	CCAACAACATCTTTTCCATCA	0.418000													27	71					0	0	0.004656	0	0
ITGA8	8516	broad.mit.edu	37	10	15559167	15559167	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:15559167G>A	ENST00000378076.3	-	30	3535	c.3182C>T	c.(3181-3183)cCt>cTt	p.P1061L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	1061					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P1061L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCATGCCTCAGGGGTCTTGTC	0.428000													6	63					0	0	0.001168	0	0
CALD1	800	broad.mit.edu	37	7	134617840	134617840	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:134617840G>T	ENST00000361388.2	+	5	786	c.320G>T	c.(319-321)cGc>cTc	p.R107L	CALD1_ENST00000417172.1_Missense_Mutation_p.R107L|CALD1_ENST00000361675.2_Missense_Mutation_p.R107L|CALD1_ENST00000424922.1_Missense_Mutation_p.R101L|CALD1_ENST00000422748.1_Missense_Mutation_p.R107L|CALD1_ENST00000543443.1_Missense_Mutation_p.R112L|CALD1_ENST00000393118.2_Missense_Mutation_p.R101L|CALD1_ENST00000361901.2_Missense_Mutation_p.R107L|CALD1_ENST00000495522.1_Missense_Mutation_p.R101L	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	314	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.R107L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAGGAAAGACGCCAAAAACGC	0.557000													12	67					1.3612e-06	1.60669e-06	0.003163	1	0
TLR4	7099	broad.mit.edu	37	9	120476798	120476798	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:120476798G>T	ENST00000355622.6	+	3	2493	c.2392G>T	c.(2392-2394)Gag>Tag	p.E798*	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.E758*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	798	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.E798*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCTGGAGTGGGAGGACAGTGT	0.542000													23	149					1.74807e-11	2.37938e-11	0.002096	1	0
NBEAL1	65065	broad.mit.edu	37	2	204001388	204001388	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:204001388G>A	ENST00000449802.1	+	28	4702	c.4369G>A	c.(4369-4371)Gaa>Aaa	p.E1457K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1457							binding	p.E1457K(1)|p.E167K(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAAGGGACTAGAAAAGTCTGA	0.338000													7	122					0	0	0.003080	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502399	140502399	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140502399C>A	ENST00000194152.1	+	1	819	c.819C>A	c.(817-819)ttC>ttA	p.F273L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		273	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.F273L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGAAACTTCGGGAGTGTTT	0.403000													48	144					3.21987e-24	5.26057e-24	0.003610	1	0
MIR99AHG	388815	broad.mit.edu	37	21	17566788	17566788	+	RNA	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:17566788A>T	ENST00000458468.1	+	0	409					NR_027790.1																						GCTGCATAATAGAGAAGCCGG	0.478000													3	29					0	0	0.009096	0	0
DNAH3	55567	broad.mit.edu	37	16	21053462	21053462	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:21053462G>C	ENST00000261383.3	-	32	4524	c.4525C>G	c.(4525-4527)Cta>Gta	p.L1509V	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1509V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1509	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L1509V(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATGTCTTTAGCTTCCGAATG	0.537000													61	110					0	0	0.003610	0	0
DCBLD1	285761	broad.mit.edu	37	6	117864321	117864321	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:117864321G>T	ENST00000338728.5	+	12	1512	c.1392G>T	c.(1390-1392)gtG>gtT	p.V464V	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Silent_p.V265V|DCBLD1_ENST00000534777.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.V464V			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	464					cell adhesion	integral to membrane		p.V464V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TTCCATTGGTGCTCCTTGTTG	0.378000													39	313					3.86361e-14	5.57114e-14	0.003610	1	0
COL4A2	1284	broad.mit.edu	37	13	111082234	111082234	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:111082234G>T	ENST00000360467.5	+	8	786	c.480G>T	c.(478-480)ggG>ggT	p.G160G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	160					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G160G(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTAATTAGGGGCCCCAAGGAC	0.433000													17	38					8.28177e-16	1.22159e-15	0.007413	1	0
NPAS4	266743	broad.mit.edu	37	11	66191476	66191476	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:66191476G>T	ENST00000311034.2	+	7	1291	c.1115G>T	c.(1114-1116)aGc>aTc	p.S372I		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	372					transcription, DNA-dependent		DNA binding|signal transducer activity	p.S372I(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCTCCCAGAAGCACCAGCTTC	0.547000													58	259					7.89702e-26	1.29796e-25	0.003610	1	0
HORMAD1	84072	broad.mit.edu	37	1	150689710	150689710	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:150689710C>A	ENST00000368993.2	-	3	187	c.82G>T	c.(82-84)Gtg>Ttg	p.V28L	HORMAD1_ENST00000322343.7_Missense_Mutation_p.V28L|HORMAD1_ENST00000368995.4_5'UTR|HORMAD1_ENST00000361824.2_Missense_Mutation_p.V28L|HORMAD1_ENST00000476530.1_5'UTR			Q86X24	HORM1_HUMAN	HORMA domain containing 1	28	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		p.L27_V28>FL(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCACTAACACCAAAGACTGG	0.348000													14	223					6.49762e-13	9.15193e-13	0.006122	1	0
FPR3	2359	broad.mit.edu	37	19	52327946	52327946	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:52327946C>A	ENST00000339223.4	+	2	1124	c.945C>A	c.(943-945)cgC>cgA	p.R315R	FPR3_ENST00000595991.1_Silent_p.R315R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	315					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.R315R(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GACTGATTCGCTCTTTGCCCA	0.512000													57	78					4.96213e-28	8.25512e-28	0.003610	1	0
IL27	246778	broad.mit.edu	37	16	28513325	28513325	+	Missense_Mutation	SNP	C	C	T	rs149151528	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:28513325C>T	ENST00000356897.1	-	4	456	c.434G>A	c.(433-435)cGc>cAc	p.R145H		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	145					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	p.R145H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CTGCAGATCGCGGAGGTCCAG	0.657000													15	162					0	0	0.004990	0	0
MUC17	140453	broad.mit.edu	37	7	100683741	100683741	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100683741G>T	ENST00000306151.4	+	3	9108	c.9044G>T	c.(9043-9045)aGc>aTc	p.S3015I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3015	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3015I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGACACCAGCACACCTGTG	0.502000													37	800					3.78316e-11	5.10493e-11	0.006230	1	0
BAGE2	85319	broad.mit.edu	37	21	11039057	11039057	+	RNA	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:11039057C>A	ENST00000470054.1	-	0	1146									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)		GTCCATCAATCCAGTAGAAAG	0.393000													15	433					1.05317e-09	1.38023e-09	0.002450	1	0
PKMYT1	9088	broad.mit.edu	37	16	3025738	3025738	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:3025738C>A	ENST00000431515.2	-	4	839	c.454G>T	c.(454-456)Gcc>Tcc	p.A152S	PKMYT1_ENST00000262300.8_Missense_Mutation_p.A152S|PKMYT1_ENST00000574730.1_Missense_Mutation_p.A83S|PKMYT1_ENST00000574385.1_Missense_Mutation_p.A143S|PKMYT1_ENST00000573944.1_Missense_Mutation_p.A143S|PKMYT1_ENST00000440027.2_Missense_Mutation_p.A152S			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	152	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A152S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AACTTGCGGGCCCGGTCCTTG	0.677000													8	25					0.000157383	0.000174286	0.003080	1	0
PIP	5304	broad.mit.edu	37	7	142829235	142829235	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:142829235G>T	ENST00000291009.3	+	1	66	c.26G>T	c.(25-27)aGg>aTg	p.R9M		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	9						extracellular region	actin binding	p.R9M(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CTCCTGTTCAGGGCCAGCCCT	0.557000													99	656					1.13638e-54	1.99368e-54	0.003610	1	0
TRIM29	23650	broad.mit.edu	37	11	119998088	119998088	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:119998088G>T	ENST00000341846.5	-	3	1511	c.1090C>A	c.(1090-1092)Cgg>Agg	p.R364R	TRIM29_ENST00000529044.1_Silent_p.R103R|TRIM29_ENST00000541857.1_Silent_p.R97R	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	364					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R364R(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGCTGCTCCCGGGTCTGCTTG	0.542000													29	102					1.13719e-10	1.5121e-10	0.008361	1	0
ZBTB45	84878	broad.mit.edu	37	19	59028649	59028649	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:59028649G>A	ENST00000594051.1	-	2	872	c.392C>T	c.(391-393)tCt>tTt	p.S131F	ZBTB45_ENST00000354590.3_Missense_Mutation_p.S131F|ZBTB45_ENST00000600990.1_Missense_Mutation_p.S131F			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	131	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S131F(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGTGGGCGCAGAGGTGCCCGG	0.706000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	22					0	0	0.004672	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420649	105420649	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:105420649C>G	ENST00000333244.5	-	7	1258	c.1139G>C	c.(1138-1140)aGg>aCg	p.R380T		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	380						nucleus		p.R380T(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGTTCTGCCCTCTCCTCTCT	0.632000													4	74					0	0	0.001984	0	0
RHBDF2	79651	broad.mit.edu	37	17	74473340	74473340	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:74473340G>A	ENST00000591885.1	-	8	1392	c.842C>T	c.(841-843)cCc>cTc	p.P281L	RHBDF2_ENST00000389760.4_Missense_Mutation_p.P281L|RHBDF2_ENST00000313080.4_Missense_Mutation_p.P310L			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	310					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.P310L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						AGAGAGTGGGGGGGACTCAAA	0.587000													4	31					0	0	0.001168	0	0
ASAP3	55616	broad.mit.edu	37	1	23769112	23769112	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:23769112C>T	ENST00000437606.2	-	5	485	c.440G>A	c.(439-441)gGg>gAg	p.G147E	ASAP3_ENST00000336689.3_Intron	NM_001143778.1	NP_001137250.1	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	156					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.?(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GGCCCTAGACCCCAAGGAAAG	0.612000													6	25					0	0	0.001168	0	0
CNTN3	5067	broad.mit.edu	37	3	74535768	74535768	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:74535768C>A	ENST00000263665.6	-	3	224	c.197G>T	c.(196-198)gGa>gTa	p.G66V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	66	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G66V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATCACTTCCATTCAGCTG	0.338000													13	71					0.000219431	0.000242017	0.002450	1	0
ACAN	176	broad.mit.edu	37	15	89399982	89399982	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:89399982A>T	ENST00000439576.2	+	12	4540	c.4166A>T	c.(4165-4167)gAg>gTg	p.E1389V	ACAN_ENST00000561243.1_Missense_Mutation_p.E1389V|ACAN_ENST00000559004.1_Missense_Mutation_p.E1389V|ACAN_ENST00000352105.7_Missense_Mutation_p.E1389V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1389					cell adhesion		hyaluronic acid binding|sugar binding	p.E1275V(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTGGAGTAGAGGACATCAGC	0.537000													21	146					0	0	0.006320	0	0
NTM	50863	broad.mit.edu	37	11	132180009	132180009	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:132180009C>T	ENST00000374786.1	+	5	1144	c.665C>T	c.(664-666)cCa>cTa	p.P222L	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.P222L|NTM_ENST00000425719.2_Missense_Mutation_p.P222L|NTM_ENST00000374791.3_Missense_Mutation_p.P222L|NTM_ENST00000427481.2_Missense_Mutation_p.P213L|NTM_ENST00000539799.1_Missense_Mutation_p.P222L	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	222	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.P222L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTTGCAGATCCACCATACATT	0.502000													59	170					0	0	0.003610	0	0
OR5M11	219487	broad.mit.edu	37	11	56310500	56310500	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:56310500G>T	ENST00000528616.2	-	1	257	c.234C>A	c.(232-234)acC>acA	p.T78T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T78T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACATCTGCGGGGTTGCATTTG	0.423000													25	104					5.35356e-11	7.17088e-11	0.002780	1	0
BICC1	80114	broad.mit.edu	37	10	60577385	60577385	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:60577385G>T	ENST00000373886.3	+	19	2601	c.2597G>T	c.(2596-2598)gGc>gTc	p.G866V		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	866					multicellular organismal development		RNA binding	p.G866V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGAAGCAATGGCTGTAACTTA	0.463000													34	45					9.8876e-21	1.55499e-20	0.004878	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136679	40136679	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:40136679A>G	ENST00000278198.2	-	2	3127	c.1164T>C	c.(1162-1164)acT>acC	p.T388T	LRRC4C_ENST00000530763.1_Silent_p.T388T|LRRC4C_ENST00000528697.1_Silent_p.T388T|LRRC4C_ENST00000527150.1_Silent_p.T388T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	388	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding	p.T388T(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCCATTTGGAGTAATCCAAG	0.483000													50	147					0	0	0.003610	0	0
AKAP4	8852	broad.mit.edu	37	X	49957633	49957633	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:49957633A>G	ENST00000376056.2	-	5	1854	c.1704T>C	c.(1702-1704)taT>taC	p.Y568Y	AKAP4_ENST00000358526.2_Silent_p.Y577Y|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.Y568Y|AKAP4_ENST00000376058.2_Silent_p.Y194Y			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	577					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.Y577Y(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TCTGAGCCATATAGCCCATGG	0.478000													28	49					0	0	0.002836	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135106116	135106116	+	Silent	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:135106116T>G	ENST00000368563.2	-	8	1457	c.1101A>C	c.(1099-1101)acA>acC	p.T367T	TUBGCP2_ENST00000252936.3_Silent_p.T367T|TUBGCP2_ENST00000417178.2_Silent_p.T237T|TUBGCP2_ENST00000543663.1_Silent_p.T395T	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	367					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	p.T367T(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGCTGTCCCCTGTGTAGCTGA	0.607000													15	20					0	0	0.007413	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49035627	49035627	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:49035627C>T	ENST00000376317.3	-	5	631	c.537G>A	c.(535-537)gtG>gtA	p.V179V	PRICKLE3_ENST00000538114.1_Silent_p.V166V|PRICKLE3_ENST00000536904.1_Silent_p.V98V|PRICKLE3_ENST00000540849.1_Silent_p.V111V	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	179	PET.						protein binding|zinc ion binding	p.V179V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CAGTGATGGTCACCGGGAAGA	0.617000													5	15					0	0	0.000602	0	0
CELA2A	63036	broad.mit.edu	37	1	15789916	15789916	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:15789916T>A	ENST00000359621.4	+	5	417	c.392T>A	c.(391-393)gTc>gAc	p.V131D		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	131	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.V131D(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GCTAACCCCGTCTCCCTCACC	0.612000													17	64					0	0	0.001882	0	0
NR5A2	2494	broad.mit.edu	37	1	200017512	200017512	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:200017512A>T	ENST00000367362.3	+	5	922	c.676A>T	c.(676-678)Aac>Tac	p.N226Y	NR5A2_ENST00000544748.1_Missense_Mutation_p.N154Y|NR5A2_ENST00000236914.3_Missense_Mutation_p.N180Y	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	226					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.N226Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCTACCTCTGAACCATGCTGC	0.517000													13	164					0	0	0.002450	0	0
KIAA0556	23247	broad.mit.edu	37	16	27786399	27786399	+	Silent	SNP	G	G	T	rs146629703		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:27786399G>T	ENST00000261588.4	+	24	4462	c.4443G>T	c.(4441-4443)ccG>ccT	p.P1481P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1481								p.P1481P(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCATCCTGCCGGGCCTGGTGG	0.662000													5	53					0.00307968	0.00326488	0.003080	1	0
TAX1BP1	8887	broad.mit.edu	37	7	27827131	27827131	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:27827131C>G	ENST00000396319.2	+	8	1035	c.947C>G	c.(946-948)aCt>aGt	p.T316S	TAX1BP1_ENST00000409980.1_Missense_Mutation_p.T316S|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.T316S|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.T159S|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.T316S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	316					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.T316S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AGCGTGATTACTCATTTCAAA	0.353000													8	150					0	0	0.004482	0	0
CNTN5	53942	broad.mit.edu	37	11	99715985	99715985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:99715985C>T	ENST00000524871.1	+	6	858	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	CNTN5_ENST00000527185.1_Nonsense_Mutation_p.Q190*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.Q116*|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.Q190*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.Q190*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	190	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Q190*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCTACACTGCAGTTTGCCTG	0.328000													17	153					0	0	0.008871	0	0
SVOPL	136306	broad.mit.edu	37	7	138313080	138313080	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:138313080C>A	ENST00000421622.1	-	7	740	c.532G>T	c.(532-534)Gtt>Ttt	p.V178F	SVOPL_ENST00000419765.3_Missense_Mutation_p.V298F|SVOPL_ENST00000436657.1_Missense_Mutation_p.V146F|SVOPL_ENST00000288513.5_Missense_Mutation_p.V146F			Q8N434	SVOPL_HUMAN	SVOP-like	298						integral to membrane	transmembrane transporter activity	p.V298F(1)|p.V146F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCCAGGATAACCCCATAGTAG	0.562000													5	93					0.000157383	0.000174286	0.003080	1	0
CPNE4	131034	broad.mit.edu	37	3	131418774	131418774	+	Silent	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:131418774T>G	ENST00000512055.1	-	8	2537	c.411A>C	c.(409-411)acA>acC	p.T137T	CPNE4_ENST00000502818.1_Silent_p.T155T|CPNE4_ENST00000512332.1_Silent_p.T155T|CPNE4_ENST00000429747.1_Silent_p.T137T|CPNE4_ENST00000511604.1_Silent_p.T137T			Q96A23	CPNE4_HUMAN	copine IV	137								p.T137T(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ATTTCCCTGCTGTGTTCCCAT	0.493000													27	43					0	0	0.009535	0	0
OR10X1	128367	broad.mit.edu	37	1	158548798	158548798	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:158548798G>T	ENST00000368150.1	-	1	891	c.892C>A	c.(892-894)Ctc>Atc	p.L298I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L298I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATGGGGCTGAGGAAGGGGGTA	0.398000													59	293					2.22609e-26	3.66433e-26	0.003610	1	0
CLEC4A	50856	broad.mit.edu	37	12	8289466	8289466	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:8289466G>T	ENST00000229332.5	+	5	780	c.533G>T	c.(532-534)tGg>tTg	p.W178L	CLEC4A_ENST00000352620.3_Missense_Mutation_p.W145L|CLEC4A_ENST00000345999.3_Missense_Mutation_p.W106L|CLEC4A_ENST00000360500.3_Missense_Mutation_p.W139L	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	178	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.W178L(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CATTGGCAATGGGTTGATCAG	0.443000													18	88					1.50039e-11	2.04991e-11	0.001882	1	0
OR51B2	79345	broad.mit.edu	37	11	5345399	5345399	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:5345399G>T	ENST00000328813.2	-	1	183	c.129C>A	c.(127-129)ctC>ctA	p.L43L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L43L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGGTAGAGGAGCATGCCAT	0.522000													19	85					7.41877e-09	9.4728e-09	0.001882	1	0
ANK3	288	broad.mit.edu	37	10	61844360	61844360	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:61844360C>A	ENST00000280772.1	-	32	4265	c.4074_splice	c.e32+1	p.E1358_splice	ANK3_ENST00000503366.1_Splice_Site_p.E1359_splice|ANK3_ENST00000355288.2_Splice_Site_p.E492_splice|ANK3_ENST00000373827.2_Splice_Site_p.E1352_splice	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1358					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.E993D(1)|p.E1358D(1)|p.E492D(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACAAGGTACCTCAATATCTT	0.358000													32	97					1.13719e-10	1.5121e-10	0.008361	1	0
AKR1D1	6718	broad.mit.edu	37	7	137776546	137776546	+	Silent	SNP	C	C	A	rs113371817		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:137776546C>A	ENST00000242375.3	+	3	336	c.294C>A	c.(292-294)gtC>gtA	p.V98V	AKR1D1_ENST00000411726.2_Silent_p.V98V|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000432161.1_Silent_p.V98V	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	98					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	p.V98V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGAGATGGTCCGCCCAACCC	0.463000													44	88					3.86361e-14	5.57114e-14	0.003610	1	0
CD163L1	283316	broad.mit.edu	37	12	7586276	7586276	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:7586276C>G	ENST00000313599.3	-	3	196	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	CD163L1_ENST00000416109.2_Missense_Mutation_p.E47Q|CD163L1_ENST00000396630.1_Missense_Mutation_p.E47Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	47						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E47*(1)|p.E47Q(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGCCTCAACTCCAAATCTGTT	0.458000													21	137					0	0	0.005443	0	0
SYNE1	23345	broad.mit.edu	37	6	152599233	152599233	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:152599233G>A	ENST00000367255.5	-	98	19165	c.18564C>T	c.(18562-18564)ctC>ctT	p.L6188L	SYNE1_ENST00000341594.5_Silent_p.L5800L|SYNE1_ENST00000265368.4_Silent_p.L6188L|SYNE1_ENST00000423061.1_Silent_p.L6117L|SYNE1_ENST00000356820.4_Silent_p.L712L|SYNE1_ENST00000448038.1_Silent_p.L6117L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6188					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.L6188L(2)|p.L6117L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGCATGTTGAGCTGCTTAT	0.577000										HNSCC(10;0.0054)			19	205					0	0	0.006122	0	0
PARP16	54956	broad.mit.edu	37	15	65559014	65559014	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:65559014G>A	ENST00000261888.6	-	3	850	c.405C>T	c.(403-405)aaC>aaT	p.N135N	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	135	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity	p.N135N(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AAAATTTGGCGTTGGCTGGGT	0.453000													23	47					0	0	0.004656	0	0
COL26A1	136227	broad.mit.edu	37	7	101091001	101091001	+	RNA	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:101091001C>G	ENST00000313669.7	+	0	510				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1									p.S106S(1)									ACAGAGTGTCCTACCGCACGG	0.617000													7	34					0	0	0.004482	0	0
NRG3	10718	broad.mit.edu	37	10	84738815	84738815	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:84738815C>T	ENST00000372142.2	+	9	1133	c.859C>T	c.(859-861)Cca>Tca	p.P287S	NRG3_ENST00000372141.2_Missense_Mutation_p.P508S|NRG3_ENST00000404547.1_Missense_Mutation_p.P508S|NRG3_ENST00000404576.2_Missense_Mutation_p.P312S|NRG3_ENST00000537893.1_Missense_Mutation_p.P158S|NRG3_ENST00000556918.1_Missense_Mutation_p.P338S|NRG3_ENST00000545131.1_Missense_Mutation_p.P158S	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	508	EGF-like.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.P508S(1)|p.P287S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AATTGTGGGACCAGCATATCA	0.527000													23	30					0	0	0.005443	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206614	142206614	+	RNA	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:142206614C>T	ENST00000426318.2	-	0	291																											ACATAGCCATCGGGGACTTCT	0.502000													70	205					0	0	0.003610	0	0
TBX15	6913	broad.mit.edu	37	1	119427872	119427872	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:119427872G>T	ENST00000369429.3	-	8	1301	c.1292C>A	c.(1291-1293)gCc>gAc	p.A431D	TBX15_ENST00000207157.3_Missense_Mutation_p.A325D			Q96SF7	TBX15_HUMAN	T-box 15	431						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A325D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGCTGAGTGGCTGAAGTGGT	0.557000													7	47					0.00307968	0.00326488	0.003080	1	0
HCK	3055	broad.mit.edu	37	20	30676371	30676371	+	Splice_Site	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:30676371G>A	ENST00000534862.1	+	11	1319	c.955_splice	c.e11-1	p.G319_splice	HCK_ENST00000518730.1_Splice_Site_p.G317_splice|HCK_ENST00000538448.1_Splice_Site_p.G318_splice|HCK_ENST00000375862.2_Splice_Site_p.G338_splice|HCK_ENST00000375852.2_Splice_Site_p.G339_splice|HCK_ENST00000520553.1_Splice_Site_p.G318_splice	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	339	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G339E(1)|p.G318E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCCATATAGGAAGCTTGCTG	0.443000													6	58					0	0	0.001984	0	0
LFNG	3955	broad.mit.edu	37	7	2559920	2559920	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:2559920A>G	ENST00000222725.5	+	1	445	c.425A>G	c.(424-426)aAg>aGg	p.K142R	LFNG_ENST00000338732.3_Intron|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000359574.3_Missense_Mutation_p.K142R	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	142					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	p.K142R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		TCGCGCCACAAGGAGATGGTG	0.687000													5	64					0	0	0.003080	0	0
UBA6	55236	broad.mit.edu	37	4	68488607	68488607	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:68488607C>G	ENST00000322244.4	-	32	3024	c.2965G>C	c.(2965-2967)Gga>Cga	p.G989R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	989					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.G989R(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATTTTGACTCCCTGTACCACC	0.333000													10	87					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9048898	9048898	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9048898G>T	ENST00000397910.4	-	5	32936	c.32733C>A	c.(32731-32733)acC>acA	p.T10911T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10913	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6544K(1)|p.T10911K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCATGACTGGTGGCCATTG	0.507000													21	91					0.00332997	0.0035268	0.003330	1	0
C8B	732	broad.mit.edu	37	1	57420396	57420396	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:57420396T>G	ENST00000543257.1	-	5	906	c.340A>C	c.(340-342)Atg>Ctg	p.M114L	C8B_ENST00000371237.4_Missense_Mutation_p.M166L|C8B_ENST00000535057.1_Missense_Mutation_p.M104L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	166	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.M166L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TATTGGTCCATTTCATGCTGA	0.453000													21	115					0	0	0.002299	0	0
TRGV4	6977	broad.mit.edu	37	7	38393411	38393411	+	RNA	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:38393411C>T	ENST00000390345.2	-	0	592																											CCGTAAGTATCATACTTCCCT	0.488000													6	145					0	0	0.001168	0	0
CPS1	1373	broad.mit.edu	37	2	211518747	211518747	+	Splice_Site	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:211518747A>T	ENST00000233072.5	+	29	3676		c.e29-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.?(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCTTCGTGACAGGAGCACCCA	0.423000													7	68					0	0	0.004482	0	0
MUTYH	4595	broad.mit.edu	37	1	45797911	45797911	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:45797911G>T	ENST00000450313.1	-	10	1075	c.860C>A	c.(859-861)gCc>gAc	p.A287D	MUTYH_ENST00000372098.3_Missense_Mutation_p.A284D|MUTYH_ENST00000372115.3_Missense_Mutation_p.A273D|MUTYH_ENST00000354383.6_Missense_Mutation_p.A260D|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.A259D|MUTYH_ENST00000372100.5_Missense_Mutation_p.A270D|MUTYH_ENST00000355498.2_Missense_Mutation_p.A259D|MUTYH_ENST00000456914.2_Missense_Mutation_p.A259D|MUTYH_ENST00000448481.1_Missense_Mutation_p.A270D|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372110.3_Missense_Mutation_p.A274D	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	284					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	p.A284D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACACACTGTGGCCCCTAGCTC	0.622000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				10	44					0.000673444	0.000728066	0.008291	1	0
GRPR	2925	broad.mit.edu	37	X	16170416	16170416	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:16170416T>A	ENST00000380289.2	+	3	1201	c.803T>A	c.(802-804)gTg>gAg	p.V268E		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	268					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.V268E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ACAGTGCTGGTGTTTGTGGGC	0.522000													44	97					0	0	0.002852	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6349667	6349667	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:6349667C>T	ENST00000335585.5	-	6	719	c.696G>A	c.(694-696)ccG>ccA	p.P232P	PPP2R2C_ENST00000382599.4_Silent_p.P232P|PPP2R2C_ENST00000515571.1_Silent_p.P215P|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Silent_p.P225P|PPP2R2C_ENST00000507294.1_Silent_p.P225P	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	232					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.P232P(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGCAGTGGTGCGGATGGAACT	0.597000													13	47					0	0	0.003163	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649135	75649135	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:75649135C>T	ENST00000361470.2	+	1	1090	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	271	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.S271F(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCGAGCACCTCCGTGCTGCCC	0.706000													6	15					0	0	0.001168	0	0
ACTN2	88	broad.mit.edu	37	1	236898989	236898989	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:236898989G>T	ENST00000366578.4	+	8	918	c.752G>T	c.(751-753)tGc>tTc	p.C251F	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	251	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.C251F(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TACGTCTCTTGCTTCTACCAC	0.522000													4	75					0.00024832	0.000273052	0.009096	1	0
LRRC7	57554	broad.mit.edu	37	1	70505055	70505055	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:70505055G>T	ENST00000310961.5	+	22	3867	c.3449G>T	c.(3448-3450)aGa>aTa	p.R1150I	LRRC7_ENST00000415775.2_Missense_Mutation_p.R429I|LRRC7_ENST00000035383.5_Missense_Mutation_p.R1145I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1145						centrosome|focal adhesion|nucleolus	protein binding	p.R1145I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGGTACGGCAGACCCCCATAT	0.542000													12	108					2.80697e-09	3.6308e-09	0.000978	1	0
SERPINB11	89778	broad.mit.edu	37	18	61390485	61390485	+	RNA	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:61390485C>G	ENST00000544088.1	+	0	1093				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.T142R(1)|p.T344R(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GAAGAGGGCACGGAGGCAGCA	0.498000													28	25					0	0	0.002445	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299216	117299216	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:117299216G>T	ENST00000321322.6	-	33	6171	c.6170C>A	c.(6169-6171)aCc>aAc	p.T2057N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.T1787N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1997					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.T2057N(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGGGGGCGGTGGGTGGCTC	0.736000													12	5					2.27111e-07	2.77355e-07	0.001368	1	0
IGLV3-27	28791	broad.mit.edu	37	22	23011092	23011092	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:23011092G>T	ENST00000390304.2	+	0	193																											AAATATGCTCGGTGGTTCCAG	0.567000													74	58					6.20995e-33	1.05724e-32	0.003610	1	0
MUC17	140453	broad.mit.edu	37	7	100681105	100681105	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100681105T>A	ENST00000306151.4	+	3	6472	c.6408T>A	c.(6406-6408)tcT>tcA	p.S2136S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2136	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S2136S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGATCACTTCTACTGAAGTCA	0.468000													151	524					0	0	0.003610	0	0
HRNR	388697	broad.mit.edu	37	1	152193135	152193135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:152193135G>A	ENST00000368801.2	-	3	1045	c.970C>T	c.(970-972)Caa>Taa	p.Q324*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	324					keratinization		calcium ion binding|protein binding	p.Q324*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCGTGTTGGCCGTGGCTG	0.607000													8	129					0	0	0.001855	0	0
PSG8	440533	broad.mit.edu	37	19	43259311	43259311	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:43259311A>T	ENST00000404209.4	-	4	913	c.817T>A	c.(817-819)Tgg>Agg	p.W273R	PSG8_ENST00000401467.2_Missense_Mutation_p.W180R|PSG8_ENST00000306511.4_Missense_Mutation_p.W273R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.W151R	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	273	Ig-like C2-type 2.					extracellular region		p.W273R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTTAGCCACCAAATGTAGGTG	0.473000													115	116					0	0	0.003610	0	0
LRRC7	57554	broad.mit.edu	37	1	70488916	70488916	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:70488916G>C	ENST00000310961.5	+	18	1972	c.1554G>C	c.(1552-1554)caG>caC	p.Q518H	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q513H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	513						centrosome|focal adhesion|nucleolus	protein binding	p.Q513H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTGATCAGCAGATCCAAGATA	0.582000													10	69					0	0	0.006214	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579392	44579392	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:44579392A>G	ENST00000289547.4	-	2	659	c.604T>C	c.(604-606)Tgg>Cgg	p.W202R	NPC1L1_ENST00000381160.3_Missense_Mutation_p.W202R|NPC1L1_ENST00000546276.1_Missense_Mutation_p.W202R|NPC1L1_ENST00000423141.1_Missense_Mutation_p.W202R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	202					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.W202R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGTTGAGCCAGCGCTGGGCA	0.637000													13	199					0	0	0.003163	0	0
B3GAT2	135152	broad.mit.edu	37	6	71571616	71571616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:71571616G>A	ENST00000230053.6	-	3	1410	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	268					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.Q268*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ATCCCTGGCTGGGATCCACGA	0.363000													13	88					0	0	0.002450	0	0
CD22	933	broad.mit.edu	37	19	35828663	35828663	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:35828663C>A	ENST00000085219.5	+	5	790	c.724C>A	c.(724-726)Ccg>Acg	p.P242T	CD22_ENST00000270311.6_Missense_Mutation_p.P122T|CD22_ENST00000341773.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.P70T|CD22_ENST00000544992.2_Missense_Mutation_p.P242T|CD22_ENST00000536635.2_Missense_Mutation_p.P242T|CD22_ENST00000594250.1_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	242	Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding	p.P242T(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCCAGACACCCCGAAGTTGGA	0.597000													31	50					2.46105e-21	3.91547e-21	0.002096	1	0
PMS2P4	5382	broad.mit.edu	37	7	66760680	66760680	+	RNA	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:66760680C>A	ENST00000414507.1	-	0	379																											TGACTGTGGTCCCTCTGGGGT	0.468000													33	168					4.3949e-29	7.35624e-29	0.004289	1	0
BBS9	27241	broad.mit.edu	37	7	33545228	33545228	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:33545228C>T	ENST00000242067.6	+	20	2790	c.2269C>T	c.(2269-2271)Ctg>Ttg	p.L757L	BBS9_ENST00000355070.2_Silent_p.L752L|BBS9_ENST00000350941.3_Silent_p.L717L|BBS9_ENST00000354265.4_Silent_p.L722L|BBS9_ENST00000396127.2_Silent_p.L722L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	757					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.L757L(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGCGGCATTTCTGCCGCTACA	0.488000									Bardet-Biedl syndrome				8	99					0	0	0.003080	0	0
DNAH9	1770	broad.mit.edu	37	17	11651011	11651011	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:11651011C>A	ENST00000262442.3	+	32	6606	c.6538C>A	c.(6538-6540)Ctc>Atc	p.L2180I	DNAH9_ENST00000454412.2_Missense_Mutation_p.L2180I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2180	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2180I(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGACTGACCTCAATCCCAA	0.522000													16	38					5.35267e-07	6.42202e-07	0.007413	1	0
STAB2	55576	broad.mit.edu	37	12	104125389	104125389	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:104125389C>T	ENST00000388887.2	+	50	5463	c.5259C>T	c.(5257-5259)taC>taT	p.Y1753Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1753	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.Y1753Y(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACAATGGCTACATCAAATTTA	0.323000													32	64					0	0	0.005524	0	0
MFSD6	54842	broad.mit.edu	37	2	191353516	191353516	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:191353516G>A	ENST00000392328.1	+	5	2088	c.1764G>A	c.(1762-1764)atG>atA	p.M588I	MFSD6_ENST00000535751.1_Missense_Mutation_p.M50I|MFSD6_ENST00000281416.7_Missense_Mutation_p.M588I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	588					transmembrane transport	integral to membrane		p.M588I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GTGGTGCCATGATCGGAGGCG	0.443000													73	93					0	0	0.003610	0	0
MYT1	4661	broad.mit.edu	37	20	62836921	62836921	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:62836921C>A	ENST00000536311.1	+	6	529	c.165C>A	c.(163-165)ccC>ccA	p.P55P	MYT1_ENST00000360149.4_Silent_p.P55P|MYT1_ENST00000328439.1_Silent_p.P55P			Q01538	MYT1_HUMAN	myelin transcription factor 1	55					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P55P(1)		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)					AGAGCTGCCCCCTGGCCAAGA	0.642000													26	75					1.74807e-11	2.37938e-11	0.002096	1	0
CHAT	1103	broad.mit.edu	37	10	50863202	50863202	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:50863202C>A	ENST00000395562.2	+	13	1919	c.1450C>A	c.(1450-1452)Cgc>Agc	p.R484S	CHAT_ENST00000395559.2_Missense_Mutation_p.R448S|CHAT_ENST00000337653.2_Missense_Mutation_p.R566S|CHAT_ENST00000455728.2_Missense_Mutation_p.R448S|CHAT_ENST00000339797.1_Missense_Mutation_p.R448S|CHAT_ENST00000351556.3_Missense_Mutation_p.R448S	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	566					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.R566S(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAGGAGGGACGCGTGGACAA	0.587000													12	82					5.01169e-05	5.64138e-05	0.004990	1	0
LARP6	55323	broad.mit.edu	37	15	71124814	71124814	+	Silent	SNP	C	C	T	rs148356697		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:71124814C>T	ENST00000299213.8	-	3	1123	c.1053G>A	c.(1051-1053)gcG>gcA	p.A351A		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	351					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.A351A(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GCCGTCGGCCCGCCATAGGGG	0.597000													13	56					0	0	0.004007	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208795744	208795744	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:208795744G>A	ENST00000457206.1	-	5	2219	c.1792C>T	c.(1792-1794)Ctg>Ttg	p.L598L	PLEKHM3_ENST00000389247.4_Silent_p.L598L|PLEKHM3_ENST00000427836.2_Silent_p.L598L			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	598					intracellular signal transduction		metal ion binding	p.L598L(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACGGCGGCCAGCGGCTCTGCG	0.637000													37	76					0	0	0.003610	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12251948	12251948	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:12251948A>T	ENST00000376259.3	+	4	514	c.425A>T	c.(424-426)aAg>aTg	p.K142M	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.K142M	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	142					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	p.K142M(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CCGCTGCGCAAGTGCCGCCCG	0.687000													7	20					0	0	0.003080	0	0
TPD52	7163	broad.mit.edu	37	8	80976781	80976781	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:80976781C>A	ENST00000379096.5	-	2	181	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	TPD52_ENST00000520527.1_Missense_Mutation_p.A63S|TPD52_ENST00000537855.1_Missense_Mutation_p.A63S|TPD52_ENST00000517427.1_Missense_Mutation_p.A63S|TPD52_ENST00000518937.1_Missense_Mutation_p.A23S|TPD52_ENST00000448733.2_Missense_Mutation_p.A63S|TPD52_ENST00000379097.3_Missense_Mutation_p.A63S|TPD52_ENST00000519303.2_5'UTR	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	63					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	p.A23S(1)|p.A63S(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTGATCGTGGCAGCAACATCT	0.438000													36	499					2.26627e-22	3.64807e-22	0.007835	1	0
HGD	3081	broad.mit.edu	37	3	120389380	120389380	+	Splice_Site	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:120389380C>T	ENST00000283871.5	-	4	636		c.e4-1		HGD_ENST00000488183.1_Splice_Site	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase						L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	p.?(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATACAGCCAGCTAGAGGGAAA	0.438000													8	96					0	0	0.004482	0	0
AGAP7	653268	broad.mit.edu	37	10	51465342	51465342	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:51465342G>T	ENST00000374095.5	-	7	1239	c.1114C>A	c.(1114-1116)Cct>Act	p.P372T		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	372	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.P372T(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TTGGCATGAGGAGAGGGGGGC	0.517000													19	276					4.35082e-09	5.62109e-09	0.010504	1	0
BVES	11149	broad.mit.edu	37	6	105581345	105581345	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:105581345G>C	ENST00000314641.5	-	2	324	c.108C>G	c.(106-108)aaC>aaG	p.N36K	BVES_ENST00000336775.5_Missense_Mutation_p.N36K|BVES_ENST00000446408.2_Missense_Mutation_p.N36K	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	36					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.N36K(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TCTCTCTCCAGTTTTCACAAG	0.378000													13	119					0	0	0.004007	0	0
HEPH	9843	broad.mit.edu	37	X	65409587	65409587	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:65409587G>T	ENST00000519389.1	+	6	1211	c.1032G>T	c.(1030-1032)gtG>gtT	p.V344V	HEPH_ENST00000419594.1_Silent_p.V293V|HEPH_ENST00000374727.3_Silent_p.V293V|HEPH_ENST00000441993.2_Silent_p.V293V|HEPH_ENST00000343002.2_Silent_p.V290V|HEPH_ENST00000336279.5_Silent_p.V23V			Q9BQS7	HEPH_HUMAN	hephaestin	290	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.V290V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGAAACGTGTGGCCTGGCACT	0.443000													40	115					2.59497e-14	3.76167e-14	0.007835	1	0
NRXN1	9378	broad.mit.edu	37	2	51254924	51254924	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:51254924C>T	ENST00000404971.1	-	2	1827	c.488G>A	c.(487-489)cGc>cAc	p.R163H	NRXN1_ENST00000406316.2_Missense_Mutation_p.R163H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R163H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R163H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R163H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R163H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R163H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	163	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R163H(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCCGCGGCGCGCAGTTCCGG	0.672000													4	18					0	0	0.000602	0	0
IL24	11009	broad.mit.edu	37	1	207074989	207074989	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:207074989C>A	ENST00000294984.2	+	5	728	c.454C>A	c.(454-456)Caa>Aaa	p.Q152K	IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.Q153K|IL24_ENST00000367093.3_Intron	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	152					apoptosis	extracellular space	cytokine activity	p.Q152K(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GTCACAACTGCAACCcagtgt	0.478000													13	73					2.61681e-11	3.54861e-11	0.002450	1	0
LRRC58	116064	broad.mit.edu	37	3	120050100	120050100	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:120050100C>G	ENST00000295628.3	-	4	1158	c.1063G>C	c.(1063-1065)Gaa>Caa	p.E355Q		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	355								p.E355Q(1)		large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		GCTTCATCTTCTGAGTCAGAT	0.458000													3	88					0	0	0.009096	0	0
NTRK1	4914	broad.mit.edu	37	1	156845387	156845387	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:156845387C>A	ENST00000368196.3	+	11	1532	c.1412C>A	c.(1411-1413)tCc>tAc	p.S471Y	NTRK1_ENST00000358660.3_Missense_Mutation_p.S471Y|NTRK1_ENST00000392302.2_Missense_Mutation_p.S441Y|NTRK1_ENST00000524377.1_Missense_Mutation_p.S477Y	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	477	Interaction with SQSTM1 (By similarity).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.S441Y(1)|p.S477Y(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGCTCCCTGTCCCCCACCGAG	0.612000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			9	120					0.000673444	0.000728066	0.008291	1	0
SLC9A3	6550	broad.mit.edu	37	5	476783	476783	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:476783C>T	ENST00000264938.3	-	12	1774	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	SLC9A3_ENST00000514375.1_Missense_Mutation_p.E580K|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	589						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.E589K(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTGACATTTTCTCTCCTGCGT	0.667000													4	56					0	0	0.001168	0	0
ZNF629	23361	broad.mit.edu	37	16	30794693	30794693	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:30794693C>T	ENST00000262525.4	-	3	1163	c.956G>A	c.(955-957)cGc>cAc	p.R319H		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R319H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CTCGGTGCAGCGGTATGGCTT	0.637000													17	45					0	0	0.002780	0	0
CNTN2	6900	broad.mit.edu	37	1	205027166	205027166	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:205027166C>T	ENST00000331830.4	+	3	472	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	63	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.A63V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCATGCCGCGCCCGGGCCAGC	0.642000													7	53					0	0	0.008291	0	0
MLIP	90523	broad.mit.edu	37	6	54025355	54025355	+	Silent	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:54025355C>G	ENST00000514921.1	+	7	2477	c.2364C>G	c.(2362-2364)ctC>ctG	p.L788L	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Silent_p.L799L|MLIP_ENST00000274897.5_Silent_p.L264L|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	264						nuclear envelope|PML body	protein binding	p.L264L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGAAGAGCTCTGTGCTACCA	0.393000													9	41					0	0	0.000978	0	0
MLF2	8079	broad.mit.edu	37	12	6861144	6861144	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:6861144T>A	ENST00000203630.5	-	3	771	c.127A>T	c.(127-129)Atc>Ttc	p.I43F	MLF2_ENST00000435120.1_Missense_Mutation_p.I43F|MLF2_ENST00000542154.1_Missense_Mutation_p.I43F|MLF2_ENST00000539187.1_Missense_Mutation_p.I43F			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	43					defense response	cytoplasm|nucleus	protein binding	p.I43F(1)		kidney(2)|large_intestine(3)|lung(4)	9						CCATCTGTGATGCTGAGGAAG	0.537000											OREG0021633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	212					0	0	0.001882	0	0
CNGA1	1259	broad.mit.edu	37	4	47939841	47939841	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:47939841G>C	ENST00000402813.3	-	10	1019	c.877C>G	c.(877-879)Cta>Gta	p.L293V	CNGA1_ENST00000544810.1_Missense_Mutation_p.L224V|CNGA1_ENST00000420489.2_Missense_Mutation_p.L224V|CNGA1_ENST00000514170.1_Missense_Mutation_p.L224V|CNGA1_ENST00000358519.4_Missense_Mutation_p.L224V			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	224					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	p.L224V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CCTTGTTCTAGGTAACCTAAA	0.299000													17	52					0	0	0.004007	0	0
CEBPZ	10153	broad.mit.edu	37	2	37428995	37428995	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:37428995C>G	ENST00000234170.5	-	16	3222	c.3077G>C	c.(3076-3078)aGa>aCa	p.R1026T	AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	1026					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.R1026T(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTTTGCATCTCTGTTGTGTAG	0.343000													14	121					0	0	0.004007	0	0
OR5K2	402135	broad.mit.edu	37	3	98217148	98217148	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:98217148C>A	ENST00000427338.1	+	1	701	c.624C>A	c.(622-624)gtC>gtA	p.V208V	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V208V(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGTTCAAGTCTTTACCATAG	0.378000													34	178					2.81731e-10	3.71899e-10	0.002096	1	0
CD82	3732	broad.mit.edu	37	11	44640631	44640631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:44640631C>A	ENST00000227155.4	+	10	1007	c.759C>A	c.(757-759)tgC>tgA	p.C253*	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Nonsense_Mutation_p.C228*	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	253						integral to plasma membrane	protein binding	p.C253*(1)		large_intestine(1)|ovary(1)	2						TCTGCTTGTGCCGGCACGTCC	0.652000													7	72					2.0095e-06	2.35411e-06	0.001984	1	0
PCDH10	57575	broad.mit.edu	37	4	134071803	134071803	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:134071803G>C	ENST00000264360.4	+	1	1334	c.508G>C	c.(508-510)Gac>Cac	p.D170H		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	170	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D170H(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTTCTCCCTGGACGTGCAGAC	0.637000													6	79					0	0	0.003080	0	0
SSMEM1	136263	broad.mit.edu	37	7	129853326	129853326	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:129853326G>A	ENST00000297819.3	+	2	241	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1									p.E64K(1)									ACAGATGTCTGAGGATAAAAA	0.373000													28	210					0	0	0.008361	0	0
GABRG1	2565	broad.mit.edu	37	4	46060556	46060556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:46060556G>A	ENST00000295452.4	-	6	876	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	237					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.Q237E(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AATGCAAACTGATATAATCTC	0.353000													5	35					0	0	0.001168	0	0
SON	6651	broad.mit.edu	37	21	34923708	34923708	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:34923708A>G	ENST00000356577.4	+	3	2646	c.2171A>G	c.(2170-2172)cAt>cGt	p.H724R	SON_ENST00000381679.4_Missense_Mutation_p.H724R|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.H724R|SON_ENST00000300278.4_Missense_Mutation_p.H724R	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	724					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.H724R(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATGGAGACCCATATATTAGCA	0.493000													16	162					0	0	0.004990	0	0
GPR125	166647	broad.mit.edu	37	4	22390301	22390301	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:22390301C>A	ENST00000334304.5	-	19	3262	c.2993G>T	c.(2992-2994)gGg>gTg	p.G998V	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	998					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.G998V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAGGCTGGCCCCCAAGAGCTG	0.398000													10	46					5.50884e-06	6.36486e-06	0.001368	1	0
PKMYT1	9088	broad.mit.edu	37	16	3024067	3024067	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:3024067C>G	ENST00000431515.2	-	7	1629	c.1244G>C	c.(1243-1245)gGc>gCc	p.G415A	PKMYT1_ENST00000262300.8_Missense_Mutation_p.G415A|PKMYT1_ENST00000574730.1_Missense_Mutation_p.G346A|PKMYT1_ENST00000574385.1_Missense_Mutation_p.G406A|PKMYT1_ENST00000573944.1_Missense_Mutation_p.G406A|PKMYT1_ENST00000440027.2_Missense_Mutation_p.G415A			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	415	Interaction with PIN1.			G -> D (in Ref. 1; AAB71843).	G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G415A(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGTGGTGAGCCAGGCGGGGT	0.682000													3	14					0	0	0.009096	0	0
DPP3	10072	broad.mit.edu	37	11	66276615	66276615	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:66276615C>T	ENST00000532677.1	+	18	2565	c.2164C>T	c.(2164-2166)Cgt>Tgt	p.R722C	DPP3_ENST00000541961.1_Missense_Mutation_p.R703C|DPP3_ENST00000531863.1_Missense_Mutation_p.R723C|DPP3_ENST00000530165.1_Missense_Mutation_p.R673C|DPP3_ENST00000360510.2_Missense_Mutation_p.R703C|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000453114.1_Missense_Mutation_p.R703C	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	703					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	p.R703C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCTCTGAGCGTTTCCCAGA	0.602000													10	80					0	0	0.000978	0	0
KIF20B	9585	broad.mit.edu	37	10	91522499	91522499	+	Silent	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:91522499A>T	ENST00000416354.1	+	29	5058	c.4986A>T	c.(4984-4986)ccA>ccT	p.P1662P	KIF20B_ENST00000394289.2_Silent_p.P1632P|KIF20B_ENST00000260753.4_Silent_p.P1592P|KIF20B_ENST00000371728.3_Silent_p.P1632P|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1632	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	p.P1592P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTTTACAGCCAAACAAAATGG	0.413000													8	57					0	0	0.003080	0	0
BICC1	80114	broad.mit.edu	37	10	60548154	60548154	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:60548154G>C	ENST00000373886.3	+	6	575	c.571G>C	c.(571-573)Gga>Cga	p.G191R		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	191	KH 1.				multicellular organismal development		RNA binding	p.G191R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACAACCAGCAGGAGTAGAATC	0.328000													3	18					0	0	0.009096	0	0
GPR45	11250	broad.mit.edu	37	2	105859086	105859086	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:105859086G>T	ENST00000258456.1	+	1	887	c.771G>T	c.(769-771)gtG>gtT	p.V257V		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	257						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V257V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGGTCAGCGTGGACTTGAGCT	0.652000													28	193					3.80469e-20	5.94076e-20	0.009535	1	0
SLCO2B1	11309	broad.mit.edu	37	11	74913994	74913994	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:74913994G>T	ENST00000289575.5	+	12	2207	c.1812G>T	c.(1810-1812)atG>atT	p.M604I	SLCO2B1_ENST00000454962.2_Missense_Mutation_p.M377I|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.M582I|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.M377I|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.M460I|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.M488I|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.M349I	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	604					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.M604I(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TCCAGTTCATGTTCCTGAGGA	0.542000													31	220					1.49673e-21	2.39171e-21	0.006230	1	0
PEAR1	375033	broad.mit.edu	37	1	156874558	156874558	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:156874558G>A	ENST00000338302.3	+	4	345	c.120G>A	c.(118-120)aaG>aaA	p.K40K	PEAR1_ENST00000292357.7_Silent_p.K40K			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	40	EMI.					integral to membrane		p.K40K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCACCACCAAGGAGTCCCACT	0.667000													5	228					0	0	0.001168	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733173	52733173	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:52733173C>A	ENST00000360540.5	-	7	1218	c.812G>T	c.(811-813)aGg>aTg	p.R271M	PCMTD1_ENST00000544451.1_Missense_Mutation_p.R195M|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R271M|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	271						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.R271M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGGTGGAGCCCTTTGAGGAAT	0.423000													7	199					1.08611e-07	1.34289e-07	0.000978	1	0
LPPR5	163404	broad.mit.edu	37	1	99470110	99470110	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:99470110C>T	ENST00000370188.3	-	1	478	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000263177.4_Missense_Mutation_p.V40M	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		40						integral to membrane	hydrolase activity	p.V40M(1)									AAGCCCTGCACGTTCACGGTG	0.632000													7	40					0	0	0.003080	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52729033	52729033	+	Silent	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:52729033C>T	ENST00000322088.6	+	14	1783	c.1725C>T	c.(1723-1725)gtC>gtT	p.V575V	PPP2R1A_ENST00000462990.1_Silent_p.V396V|PPP2R1A_ENST00000444322.2_Silent_p.V520V|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	575	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.V575V(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGTGGACGTCAAATACTTTG	0.572000			Mis		clear cell ovarian carcinoma								15	121					0	0	0.003163	0	0
LEPREL2	10536	broad.mit.edu	37	12	6939836	6939836	+	RNA	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:6939836G>T	ENST00000251761.8	+	0	920				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2									p.R295L(1)|p.R111L(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TGCCGGCAACGCTGTGTGGGG	0.622000													8	30					0.000157383	0.000174286	0.003080	1	0
GABBR1	2550	broad.mit.edu	37	6	29599302	29599302	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:29599302T>C	ENST00000377034.4	-	3	495	c.160A>G	c.(160-162)Atc>Gtc	p.I54V	GABBR1_ENST00000377016.4_Missense_Mutation_p.I54V|GABBR1_ENST00000376977.3_Missense_Mutation_p.I54V	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	54	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.I54V(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	AGGAAGTTGATAGCCTTCACC	0.632000													20	218					0	0	0.003330	0	0
CALY	50632	broad.mit.edu	37	10	135139522	135139522	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:135139522G>T	ENST00000252939.4	-	5	556	c.463C>A	c.(463-465)Cgc>Agc	p.R155S	CALY_ENST00000467611.1_5'UTR|ZNF511_ENST00000368554.4_Intron|CALY_ENST00000368558.1_3'UTR	NM_015722.3	NP_056537.1	Q9NYX4	CALY_HUMAN	calcyon neuron-specific vesicular protein	155					clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding	p.R155S(1)		kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)	CCGTGCTTGCGGCTCAGCGGG	0.736000													4	2					0.000602214	0.000652996	0.000602	1	0
SLC9A6	10479	broad.mit.edu	37	X	135084373	135084373	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:135084373G>T	ENST00000370695.4	+	6	934		c.e6+1		SLC9A6_ENST00000370698.3_Splice_Site|SLC9A6_ENST00000370701.1_Splice_Site	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6						regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTGTCCTCGTAAGTGTTTG	0.348000													47	112					1.86633e-21	2.97796e-21	0.003610	1	0
MTMR6	9107	broad.mit.edu	37	13	25840328	25840328	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:25840328T>C	ENST00000381801.5	-	4	1162	c.401A>G	c.(400-402)tAt>tGt	p.Y134C	MTMR6_ENST00000540661.1_Missense_Mutation_p.Y134C	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	134	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Y134C(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CATCCTCTTATATTCCTCAGC	0.408000													15	24					0	0	0.002450	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539978	94539978	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:94539978A>G	ENST00000289495.5	+	1	769	c.553A>G	c.(553-555)Act>Gct	p.T185A	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T185A|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T185A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T185A|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T185A|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T185A	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	185						cell junction|synapse|synaptosome	actin binding	p.T185A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGAGGCAGTACTGATTCCTT	0.502000										HNSCC(28;0.073)			10	136					0	0	0.006214	0	0
DPY19L3	147991	broad.mit.edu	37	19	32944168	32944168	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:32944168G>A	ENST00000342179.5	+	9	1188	c.973G>A	c.(973-975)Gca>Aca	p.A325T	DPY19L3_ENST00000586987.1_Missense_Mutation_p.A325T|DPY19L3_ENST00000392250.2_Missense_Mutation_p.A325T	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	325						integral to membrane		p.A325T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AGTATTCATTGCAAGAAAACT	0.308000													4	61					0	0	0.009096	0	0
USP17L2	377630	broad.mit.edu	37	8	11995480	11995480	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:11995480A>T	ENST00000333796.3	-	1	1106	c.790T>A	c.(790-792)Tcc>Acc	p.S264T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	264					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S264T(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AACGTCTTGGAGGCCGGCGCC	0.483000													11	145					0	0	0.002450	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121902	117121902	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:117121902C>T	ENST00000310357.3	-	4	1414	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.D290N	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	465					response to amino acid stimulus		G-protein coupled receptor activity	p.D465N(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CCGTGAGCATCAAAATGAAAT	0.343000													14	74					0	0	0.004007	0	0
NSUN2	54888	broad.mit.edu	37	5	6620303	6620303	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:6620303G>A	ENST00000264670.6	-	7	1042	c.731C>T	c.(730-732)tCc>tTc	p.S244F	NSUN2_ENST00000539938.1_Missense_Mutation_p.S8F|NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.S209F	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	244						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.S244F(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GGGTATGCTGGAGGCATCATG	0.493000													19	170					0	0	0.002299	0	0
FCER1A	2205	broad.mit.edu	37	1	159272177	159272177	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:159272177C>A	ENST00000368115.1	+	2	122	c.23C>A	c.(22-24)cCt>cAt	p.P8H	FCER1A_ENST00000368114.1_Missense_Mutation_p.P8H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	8						integral to plasma membrane		p.P8H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGGAATCCCCTACTCTACTG	0.478000													20	314					1.64293e-13	2.35043e-13	0.003330	1	0
PCDHB15	56121	broad.mit.edu	37	5	140626432	140626432	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140626432C>A	ENST00000231173.3	+	1	1286	c.1286C>A	c.(1285-1287)cCa>cAa	p.P429Q		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P429K(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGGGACTCCAAGGCTGAAA	0.557000													34	119					1.36161e-19	2.108e-19	0.004289	1	0
ITGA4	3676	broad.mit.edu	37	2	182347350	182347350	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:182347350G>T	ENST00000397033.2	+	9	1443	c.1013G>T	c.(1012-1014)aGa>aTa	p.R338I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	338					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.R338I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAGGAAGGAAGAGTGTTTGTG	0.473000													33	175					5.91797e-21	9.36084e-21	0.002445	1	0
CALCR	799	broad.mit.edu	37	7	93090242	93090242	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:93090242C>G	ENST00000359558.2	-	10	940	c.641G>C	c.(640-642)aGg>aCg	p.R214T	CALCR_ENST00000421592.1_Missense_Mutation_p.R196T|CALCR_ENST00000426151.1_Missense_Mutation_p.R180T|CALCR_ENST00000360249.4_Missense_Mutation_p.R196T|CALCR_ENST00000394441.1_Missense_Mutation_p.R180T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	196					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R180T(1)|p.R214T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CAGGGTTACCCTTTGGCAGCC	0.393000													30	239					0	0	0.002445	0	0
DNAH9	1770	broad.mit.edu	37	17	11532817	11532817	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:11532817G>T	ENST00000262442.3	+	7	1502	c.1434G>T	c.(1432-1434)caG>caT	p.Q478H	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q478H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	478	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q478H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAGTCAGCAGGTCCAGCAAA	0.532000													25	82					1.68575e-08	2.14248e-08	0.007291	1	0
SIRPG	55423	broad.mit.edu	37	20	1616967	1616967	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:1616967G>T	ENST00000381580.1	-	3	695	c.516C>A	c.(514-516)taC>taA	p.Y172*	SIRPG_ENST00000381583.2_Nonsense_Mutation_p.Y205*|SIRPG_ENST00000216927.4_Nonsense_Mutation_p.Y205*|SIRPG_ENST00000303415.3_Nonsense_Mutation_p.Y205*|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	205	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.Y205*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGCGGATGCTGTAGGCCACAC	0.582000													28	57					3.03874e-20	4.75156e-20	0.003271	1	0
SLC5A8	160728	broad.mit.edu	37	12	101584289	101584289	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:101584289C>G	ENST00000536262.2	-	6	1348	c.790G>C	c.(790-792)Gtg>Ctg	p.V264L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	264					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.V264L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TATCTCTGCACCTGGGATTGG	0.393000													13	128					0	0	0.001855	0	0
KIF2B	84643	broad.mit.edu	37	17	51900791	51900791	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:51900791G>A	ENST00000268919.4	+	1	553	c.397G>A	c.(397-399)Gtg>Atg	p.V133M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	133					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.V133L(2)|p.V133M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCCTGGATGTGAGGGTCCC	0.582000													18	154					0	0	0.007413	0	0
GRM8	2918	broad.mit.edu	37	7	126173711	126173711	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:126173711G>T	ENST00000339582.2	-	9	2533	c.1725C>A	c.(1723-1725)atC>atA	p.I575I	GRM8_ENST00000358373.3_Silent_p.I575I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.I575I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	575					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I575I(1)|p.I575M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACTCCAATTTGATGATGGGGA	0.507000										HNSCC(24;0.065)			20	99					5.26018e-13	7.44738e-13	0.001882	1	0
OR2H2	7932	broad.mit.edu	37	6	29555777	29555777	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:29555777C>A	ENST00000383640.2	+	1	95	c.56C>A	c.(55-57)cCa>cAa	p.P19Q	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	19					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P19Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTGAACACCCAGGGCTGGAA	0.557000													24	242					1.85244e-09	2.41325e-09	0.003330	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28302316	28302316	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr21:28302316C>A	ENST00000284987.5	-	7	2235	c.2114G>T	c.(2113-2115)aGa>aTa	p.R705I	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	705	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R705I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ACAGCCAGTTCTCACACACTT	0.493000													18	211					2.4624e-09	3.19644e-09	0.008871	1	0
OR8H1	219469	broad.mit.edu	37	11	56058272	56058272	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:56058272G>T	ENST00000313022.2	-	1	294	c.267C>A	c.(265-267)aaC>aaA	p.N89K		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N89K(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGGAAATATAGTTGGAAGTCA	0.408000													73	351					3.41413e-29	5.72338e-29	0.003610	1	0
FAM46A	55603	broad.mit.edu	37	6	82461348	82461348	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:82461348C>T	ENST00000369754.3	-	2	880	c.568G>A	c.(568-570)Gag>Aag	p.E190K	FAM46A_ENST00000320172.6_Missense_Mutation_p.E171K|FAM46A_ENST00000369756.3_Missense_Mutation_p.E252K			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	171								p.E171K(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TTCACCCCCTCGGGTAAGAAG	0.597000													13	134					0	0	0.001368	0	0
ALPK3	57538	broad.mit.edu	37	15	85383141	85383141	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:85383141G>T	ENST00000258888.5	+	5	1404	c.1237G>T	c.(1237-1239)Gac>Tac	p.D413Y		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	413					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.D413Y(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGGGAGGTCGACACTCTGCG	0.677000													7	29					0.00198382	0.00211131	0.001984	1	0
SEC61A2	55176	broad.mit.edu	37	10	12206397	12206397	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:12206397G>A	ENST00000379033.3	+	11	1456	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	SEC61A2_ENST00000379020.4_Missense_Mutation_p.E393K|SEC61A2_ENST00000495368.1_Intron|SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000298428.9_Missense_Mutation_p.E459K	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	459						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.E459K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CCAGTATTTTGAAATATTTGT	0.423000													17	116					0	0	0.006122	0	0
IGSF21	84966	broad.mit.edu	37	1	18691926	18691926	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:18691926G>T	ENST00000251296.1	+	6	1133	c.750G>T	c.(748-750)ctG>ctT	p.L250L		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	250						extracellular region		p.L250L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCCGTGGCCTGACCCCAGATC	0.642000													44	141					9.9191e-30	1.66537e-29	0.008740	1	0
FAM9C	171484	broad.mit.edu	37	X	13061929	13061929	+	Translation_Start_Site	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:13061929C>T	ENST00000542843.1	-	0	190				FAM9C_ENST00000333995.3_De_novo_Start_InFrame|FAM9C_ENST00000380625.3_De_novo_Start_InFrame			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C							nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TTCCTGCCCACGGGCTCCGTG	0.572000													12	26					0	0	0.001855	0	0
AK5	26289	broad.mit.edu	37	1	77752625	77752625	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:77752625G>T	ENST00000354567.2	+	2	323		c.e2-1		AK5_ENST00000344720.5_Intron|AK5_ENST00000317704.4_Splice_Site	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5						ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.?(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTATATTTCAGAGCCTTTTGA	0.284000													15	69					6.72482e-11	8.99661e-11	0.003163	1	0
PHF20L1	51105	broad.mit.edu	37	8	133823337	133823337	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:133823337G>T	ENST00000395386.2	+	9	1193	c.894G>T	c.(892-894)aaG>aaT	p.K298N	PHF20L1_ENST00000395379.1_Missense_Mutation_p.K298N|PHF20L1_ENST00000315808.10_Missense_Mutation_p.K298N|PHF20L1_ENST00000395390.2_Missense_Mutation_p.K273N|PHF20L1_ENST00000337920.4_Missense_Mutation_p.K272N|PHF20L1_ENST00000395374.1_Missense_Mutation_p.K137N|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_Missense_Mutation_p.K168N|PHF20L1_ENST00000395383.1_Missense_Mutation_p.K302N|PHF20L1_ENST00000395376.1_Missense_Mutation_p.K303N	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	298							nucleic acid binding|zinc ion binding	p.K272N(2)|p.K298N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTGAAAAAAAGGAAGACTACA	0.388000													12	168					4.3838e-07	5.28279e-07	0.001855	1	0
SCN2A	6326	broad.mit.edu	37	2	166210846	166210846	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:166210846C>A	ENST00000357398.3	+	17	3354	c.3064C>A	c.(3064-3066)Cgt>Agt	p.R1022S	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1022S|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1022S|SCN2A_ENST00000375437.2_Missense_Mutation_p.R1022S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1022					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1022S(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGAAAAATACGTGAATTTAT	0.338000													36	239					9.8876e-21	1.55499e-20	0.004878	1	0
LAMC2	3918	broad.mit.edu	37	1	183190027	183190027	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:183190027G>A	ENST00000264144.4	+	5	636	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	LAMC2_ENST00000493293.1_Missense_Mutation_p.G191R	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	191	Laminin EGF-like 4; first part.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.G191R(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTTCTGCTATGGGCATTCAGC	0.453000													14	50					0	0	0.003163	0	0
CDH10	1008	broad.mit.edu	37	5	24488132	24488132	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:24488132G>T	ENST00000264463.4	-	12	2514	c.2007C>A	c.(2005-2007)gcC>gcA	p.A669A	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A669A(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGATATCAAAGGCCTGGGTGT	0.463000										HNSCC(23;0.051)			60	39					2.05175e-36	3.52605e-36	0.003610	1	0
ZEB2	9839	broad.mit.edu	37	2	145156310	145156310	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:145156310G>T	ENST00000558170.2	-	8	3628	c.2444C>A	c.(2443-2445)cCt>cAt	p.P815H	ZEB2_ENST00000409487.3_Missense_Mutation_p.P815H|ZEB2_ENST00000303660.4_Missense_Mutation_p.P815H|ZEB2_ENST00000539609.3_Missense_Mutation_p.P791H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	815						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.P815N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAAGTCTAAAGGCTCAGCCTG	0.388000													57	112					1.59911e-31	2.70562e-31	0.003610	1	0
MYH10	4628	broad.mit.edu	37	17	8415964	8415964	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:8415964C>G	ENST00000360416.3	-	24	2895	c.2757G>C	c.(2755-2757)gaG>gaC	p.E919D	MYH10_ENST00000269243.4_Missense_Mutation_p.E888D|MYH10_ENST00000379980.4_Missense_Mutation_p.E904D|MYH10_ENST00000396239.1_Missense_Mutation_p.E909D	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	888					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	p.E888D(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGATATTCTTCTCTTCTAAAA	0.408000													7	39					0	0	0.001984	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98388154	98388154	+	Splice_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:98388154C>A	ENST00000339364.5	-	9	1591		c.e9+1		PIK3AP1_ENST00000371110.2_Splice_Site|PIK3AP1_ENST00000468783.1_Intron|PIK3AP1_ENST00000371109.3_Splice_Site	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1							cytoplasm|plasma membrane		p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTATGACTTACCTTCTAAAAA	0.463000													59	199					2.32991e-14	3.38643e-14	0.003610	1	0
RNF111	54778	broad.mit.edu	37	15	59323058	59323058	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:59323058A>G	ENST00000348370.4	+	2	470	c.37A>G	c.(37-39)Acc>Gcc	p.T13A	RNF111_ENST00000561186.1_Missense_Mutation_p.T13A|RNF111_ENST00000557998.1_Missense_Mutation_p.T13A|RNF111_ENST00000434298.1_Missense_Mutation_p.T13A|RNF111_ENST00000559209.1_Missense_Mutation_p.T13A	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	13					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T13A(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CGAGCTCTACACCTTAAAAGT	0.393000													6	83					0	0	0.001984	0	0
DDX46	9879	broad.mit.edu	37	5	134126186	134126186	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:134126186A>T	ENST00000452510.2	+	13	1728	c.1570A>T	c.(1570-1572)Aca>Tca	p.T524S	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Missense_Mutation_p.T524S	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	524	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	p.T524S(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGAAGAGTGACATATGTTGT	0.308000													20	56					0	0	0.010504	0	0
LAMA3	3909	broad.mit.edu	37	18	21513790	21513790	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr18:21513790T>G	ENST00000313654.9	+	67	8994	c.8753T>G	c.(8752-8754)cTc>cGc	p.L2918R	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.L1253R|LAMA3_ENST00000399516.3_Missense_Mutation_p.L2862R|LAMA3_ENST00000269217.6_Missense_Mutation_p.L1309R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2918	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2918R(1)|p.L1309R(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTAACTCTCTCAAGAGAGAT	0.428000													19	68					0	0	0.007413	0	0
RBP2	5948	broad.mit.edu	37	3	139181102	139181102	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:139181102A>T	ENST00000232217.2	-	2	160	c.104T>A	c.(103-105)gTa>gAa	p.V35E	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	35					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	p.V35E(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	AGTGAGACGTACTGCAATCTT	0.428000													39	168					0	0	0.007835	0	0
PAX4	5078	broad.mit.edu	37	7	127253575	127253575	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:127253575C>A	ENST00000341640.2	-	5	755	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	PAX4_ENST00000378740.2_Missense_Mutation_p.G184W|PAX4_ENST00000463946.1_Missense_Mutation_p.G182W|PAX4_ENST00000338516.3_Missense_Mutation_p.G192W	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	192					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G184W(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGATACTGCCCACGCTGGAAC	0.577000													36	60					6.2361e-21	9.8498e-21	0.007835	1	0
ZDHHC14	79683	broad.mit.edu	37	6	157963732	157963732	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:157963732C>T	ENST00000359775.5	+	2	1250	c.361C>T	c.(361-363)Cca>Tca	p.P121S	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P121S			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	121						integral to membrane	acyltransferase activity|zinc ion binding	p.P121S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGGAGTCCTCCCACGAGCCAC	0.602000													7	18					0	0	0.004482	0	0
KIAA1524	57650	broad.mit.edu	37	3	108278872	108278872	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:108278872T>G	ENST00000295746.8	-	15	1907	c.1831A>C	c.(1831-1833)Aag>Cag	p.K611Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.K452Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	611						cytoplasm|integral to membrane	protein binding	p.K611Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCTGATCCTTTACCTACATT	0.249000													4	43					0	0	0.001168	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065689	55065689	+	RNA	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:55065689C>A	ENST00000526016.1	-	0	19					NR_038174.2																						GGAAGTAGTTCATGCAGATGG	0.493000													46	60					1.07234e-20	1.68401e-20	0.003610	1	0
MOGAT3	346606	broad.mit.edu	37	7	100841620	100841620	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100841620G>T	ENST00000223114.4	-	5	686	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	MOGAT3_ENST00000440203.2_Missense_Mutation_p.L174M|MOGAT3_ENST00000379423.3_Missense_Mutation_p.L174M	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	174					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	p.L174M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					ATGAAGTCCAGGCTCTGGCGG	0.662000													29	93					8.58068e-18	1.30622e-17	0.007291	1	0
SLC7A7	9056	broad.mit.edu	37	14	23249156	23249156	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:23249156C>A	ENST00000554517.1	-	0	188				SLC7A7_ENST00000555702.1_Missense_Mutation_p.G202C|SLC7A7_ENST00000397532.3_Missense_Mutation_p.G202C|SLC7A7_ENST00000285850.7_Missense_Mutation_p.G202C|SLC7A7_ENST00000397528.4_Missense_Mutation_p.G202C|SLC7A7_ENST00000397529.2_Missense_Mutation_p.G202C|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	p.G202C(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTAACAATGCCTGCAACGATG	0.413000													11	111					0.00185496	0.00198577	0.001855	1	0
SCN3A	6328	broad.mit.edu	37	2	165948857	165948857	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:165948857C>T	ENST00000360093.3	-	27	5205	c.4714G>A	c.(4714-4716)Gaa>Aaa	p.E1572K	SCN3A_ENST00000283254.7_Missense_Mutation_p.E1572K|SCN3A_ENST00000540861.1_Missense_Mutation_p.E55K|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1523K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1572						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1572K(1)|p.E1523K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGCACAAATTCTCCAGTGAAC	0.453000													11	134					0	0	0.000978	0	0
AKAP9	10142	broad.mit.edu	37	7	91641910	91641910	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:91641910G>T	ENST00000359028.2	+	10	3747	c.3522G>T	c.(3520-3522)caG>caT	p.Q1174H	AKAP9_ENST00000358100.2_Missense_Mutation_p.Q1174H|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q1162H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1174					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.Q1174H(2)|p.Q1162H(2)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAACTTCAGAAAATACACC	0.328000			T	BRAF	papillary thyroid								16	118					0.000422831	0.000461693	0.004007	1	0
NELL1	4745	broad.mit.edu	37	11	21592478	21592478	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:21592478C>A	ENST00000298925.5	+	19	2386	c.2233C>A	c.(2233-2235)Cgg>Agg	p.R745R	NELL1_ENST00000325319.5_Silent_p.R660R|NELL1_ENST00000357134.5_Silent_p.R717R|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Silent_p.R670R			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	717	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R717R(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCAGCAGTGTCGGTGTCTGGT	0.443000													29	87					1.7881e-09	2.335e-09	0.008361	1	0
TRO	7216	broad.mit.edu	37	X	54954144	54954144	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:54954144A>G	ENST00000173898.7	+	11	1920	c.1808A>G	c.(1807-1809)tAt>tGt	p.Y603C	TRO_ENST00000375022.4_Missense_Mutation_p.Y603C|TRO_ENST00000319167.8_Missense_Mutation_p.Y603C|TRO_ENST00000375041.2_Missense_Mutation_p.Y206C|TRO_ENST00000399736.1_Missense_Mutation_p.Y206C|TRO_ENST00000420798.2_Missense_Mutation_p.Y134C	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	603	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.Y603C(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCACCTGAATATGAGTTCTTC	0.493000													9	36					0	0	0.004990	0	0
TRIM27	5987	broad.mit.edu	37	6	28876835	28876835	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:28876835C>A	ENST00000377199.3	-	5	1157	c.801G>T	c.(799-801)tgG>tgT	p.W267C	TRIM27_ENST00000377194.3_Missense_Mutation_p.W267C	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	267					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	p.W267C(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GAGGTGTGATCCAAGGTTCAG	0.388000			T	RET	papillary thyroid								17	139					1.00905e-13	1.44926e-13	0.008871	1	0
SEPT8	23176	broad.mit.edu	37	5	132100012	132100012	+	Missense_Mutation	SNP	C	C	A	rs76417071	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:132100012C>A	ENST00000296873.7	-	3	534	c.251G>T	c.(250-252)cGg>cTg	p.R84L	SEPT8_ENST00000458488.2_Missense_Mutation_p.R84L|SEPT8_ENST00000378706.1_Missense_Mutation_p.R84L|SEPT8_ENST00000378721.4_Missense_Mutation_p.R84L|SEPT8_ENST00000378699.2_Missense_Mutation_p.R24L|SEPT8_ENST00000448933.1_Missense_Mutation_p.R24L|SEPT8_ENST00000378701.1_Missense_Mutation_p.R84L|SEPT8_ENST00000378719.2_Missense_Mutation_p.R84L	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	84					cell cycle	septin complex	GTP binding|protein binding	p.R84L(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGGGGCCGCAGGCGCAC	0.562000													11	48					2.68362e-12	3.7461e-12	0.001368	1	0
IGDCC4	57722	broad.mit.edu	37	15	65681620	65681620	+	Splice_Site	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr15:65681620A>G	ENST00000352385.2	-	14	2746		c.e14+1			NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4							integral to membrane|plasma membrane		p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGAGCCACTCACGGTCAGGCA	0.572000													5	22					0	0	0.004482	0	0
KLF12	11278	broad.mit.edu	37	13	74289627	74289627	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr13:74289627C>T	ENST00000377669.2	-	6	931	c.905G>A	c.(904-906)cGc>cAc	p.R302H	KLF12_ENST00000377666.4_Missense_Mutation_p.R302H	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	302					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R302H(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		CCGTCTCTGGCGTCTTGTGCT	0.458000													17	89					0	0	0.007413	0	0
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K404N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443000													39	304					3.43241e-23	5.55797e-23	0.009718	1	0
OR6T1	219874	broad.mit.edu	37	11	123813850	123813850	+	Silent	SNP	A	A	T	rs76651236	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:123813850A>T	ENST00000321252.2	-	1	730	c.696T>A	c.(694-696)gcT>gcA	p.A232A		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A232A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCTTCGCTCAGCAGCTGTAG	0.512000													18	92					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179489195	179489195	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179489195C>A	ENST00000589042.1	-	242	45036	c.44812G>T	c.(44812-44814)Gtg>Ttg	p.V14938L	TTN_ENST00000342992.6_Missense_Mutation_p.V12370L|TTN_ENST00000342175.6_Missense_Mutation_p.V6065L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V13297L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V5873L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5998L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13297	Fibronectin type-III 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V12370L(2)|p.V5998L(1)|p.V6065L(1)|p.V5873L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTTACGCACGACATTCAGG	0.363000													13	115					7.93312e-07	9.44543e-07	0.002450	1	0
BPI	671	broad.mit.edu	37	20	36936026	36936026	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:36936026A>G	ENST00000262865.4	+	2	289	c.200A>G	c.(199-201)gAc>gGc	p.D67G	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	67					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.D67G(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AAGATTCCTGACTACTCAGAC	0.537000													17	164					0	0	0.007413	0	0
CCDC14	64770	broad.mit.edu	37	3	123633788	123633788	+	Silent	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:123633788A>G	ENST00000485727.1	-	9	6692	c.2100T>C	c.(2098-2100)gaT>gaC	p.D700D	CCDC14_ENST00000488653.2_Silent_p.D900D|CCDC14_ENST00000489746.1_Silent_p.D700D|CCDC14_ENST00000433542.2_Silent_p.D859D|CCDC14_ENST00000310351.4_Silent_p.D740D|CCDC14_ENST00000483247.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	900						centrosome		p.D740D(1)|p.D859D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AAACACTACCATCACAGACAG	0.478000													5	36					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179641550	179641550	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179641550G>T	ENST00000589042.1	-	28	5265	c.5041C>A	c.(5041-5043)Cat>Aat	p.H1681N	TTN_ENST00000342992.6_Missense_Mutation_p.H1681N|TTN_ENST00000342175.6_Missense_Mutation_p.H1635N|TTN_ENST00000591111.1_Missense_Mutation_p.H1681N|TTN_ENST00000460472.2_Missense_Mutation_p.H1635N|TTN_ENST00000360870.5_Missense_Mutation_p.H1681N|TTN_ENST00000359218.5_Missense_Mutation_p.H1635N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1436							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H1681N(3)|p.H1635N(3)		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)			TATCGCAAATGGAGGGGCTCC	0.448000													10	191					7.48243e-07	8.92827e-07	0.006214	1	0
OR3A1	4994	broad.mit.edu	37	17	3195613	3195613	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:3195613G>T	ENST00000323404.1	-	1	263	c.264C>A	c.(262-264)ctC>ctA	p.L88L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L88L(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGCGGGACAGGAGACGACTCA	0.562000													11	37					7.03913e-09	9.01965e-09	0.001368	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84607685	84607685	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:84607685A>G	ENST00000344803.2	+	4	2347	c.2300A>G	c.(2299-2301)gAg>gGg	p.E767G		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.E767G(2)									CTTTCCATGGAGAATGTGGGG	0.478000													40	38					0	0	0.003610	0	0
ENPP2	5168	broad.mit.edu	37	8	120631544	120631544	+	Splice_Site	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:120631544C>T	ENST00000427067.2	-	5	587	c.406_splice	c.e5-1	p.G136_splice	ENPP2_ENST00000522826.1_Splice_Site_p.G140_splice|ENPP2_ENST00000075322.6_Splice_Site_p.G140_splice|ENPP2_ENST00000259486.6_Splice_Site_p.G140_splice			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	140	SMB 2.				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.G140E(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGCGACTCTCCTATAAGGAA	0.373000													8	87					0	0	0.004482	0	0
INTS9	55756	broad.mit.edu	37	8	28654167	28654167	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:28654167C>T	ENST00000416984.2	-	8	1046	c.687G>A	c.(685-687)atG>atA	p.M229I	INTS9_ENST00000521022.1_Missense_Mutation_p.M250I|INTS9_ENST00000521777.1_Missense_Mutation_p.M226I|INTS9_ENST00000397363.4_Missense_Mutation_p.M144I	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	250					snRNA processing	integrator complex	protein binding	p.M250I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AAGCTTGGTCCATGGGCTGAA	0.418000													7	44					0	0	0.004482	0	0
CILP2	148113	broad.mit.edu	37	19	19655881	19655881	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:19655881G>A	ENST00000586018.1	+	8	2647	c.2545G>A	c.(2545-2547)Ggg>Agg	p.G849R	CILP2_ENST00000291495.4_Missense_Mutation_p.G843R			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	843						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.G843R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGACAGGCTGGGGTACCGTCG	0.716000													15	7					0	0	0.004656	0	0
GRM3	2913	broad.mit.edu	37	7	86416434	86416434	+	Splice_Site	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:86416434T>G	ENST00000361669.2	+	3	2423		c.e3+2		GRM3_ENST00000394720.2_Splice_Site|GRM3_ENST00000439827.1_Splice_Site|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Splice_Site	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3						synaptic transmission	integral to plasma membrane		p.?(1)		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)	ACTTCACGGGTAAGCCAAGAG	0.403000													10	199					0	0	0.001855	0	0
SPTA1	6708	broad.mit.edu	37	1	158644338	158644338	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:158644338G>T	ENST00000368148.3	-	9	1420	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q414K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	414					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q413_Q414>H*(1)|p.Q414K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTTATGCTGCTGATGCCTG	0.512000													22	250					7.41877e-09	9.4728e-09	0.001882	1	0
TMEM117	84216	broad.mit.edu	37	12	44605102	44605102	+	Silent	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:44605102C>A	ENST00000266534.3	+	5	667	c.540C>A	c.(538-540)ccC>ccA	p.P180P	TMEM117_ENST00000551577.1_Silent_p.P180P|TMEM117_ENST00000536799.1_Silent_p.P76P	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	180						endoplasmic reticulum|integral to membrane		p.P180P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AGGACAAACCCTATCCTGACT	0.358000													14	60					3.45872e-05	3.92563e-05	0.004007	1	0
C2CD2L	9854	broad.mit.edu	37	11	118983090	118983090	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:118983090A>T	ENST00000336702.3	+	8	1431	c.1072A>T	c.(1072-1074)Agc>Tgc	p.S358C	C2CD2L_ENST00000528586.1_Missense_Mutation_p.S106C	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	358						integral to membrane		p.S358C(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GAGGAGCAGCAGCTGTGGAGA	0.622000													5	69					0	0	0.001168	0	0
OR8H3	390152	broad.mit.edu	37	11	55889871	55889871	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:55889871C>A	ENST00000313472.3	+	1	23	c.23C>A	c.(22-24)aCa>aAa	p.T8K		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T8K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AGGAATGACACAAATGTGGCT	0.463000													18	161					6.94344e-10	9.12161e-10	0.006122	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762082	130762082	+	Missense_Mutation	SNP	C	C	A	rs149308469		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:130762082C>A	ENST00000392429.1	+	2	2893	c.515C>A	c.(514-516)aCg>aAg	p.T172K	TMEM200A_ENST00000296978.3_Missense_Mutation_p.T172K|TMEM200A_ENST00000545622.1_Missense_Mutation_p.T172K	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	172						integral to membrane		p.T172K(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GACATTCACACGCTAAGAATC	0.413000													10	103					4.68919e-08	5.85747e-08	0.008291	1	0
DKK1	22943	broad.mit.edu	37	10	54074333	54074333	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:54074333C>A	ENST00000373970.3	+	1	278	c.139C>A	c.(139-141)Cca>Aca	p.P47T		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	47					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	p.P47T(1)		kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GAACCTGCCCCCACCGCTGGG	0.647000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	77					1.28384e-07	1.58022e-07	0.001882	1	0
PCDHB14	56122	broad.mit.edu	37	5	140605057	140605057	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140605057G>T	ENST00000239449.4	+	1	1980	c.1980G>T	c.(1978-1980)gtG>gtT	p.V660V	PCDHB14_ENST00000515856.2_Silent_p.V507V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		660	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.V660V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCACGTGCTCCTGGTGG	0.711000													8	68					2.17888e-05	2.48333e-05	0.006214	1	0
PLK4	10733	broad.mit.edu	37	4	128816214	128816214	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:128816214C>G	ENST00000270861.5	+	14	2943	c.2669C>G	c.(2668-2670)tCt>tGt	p.S890C	PLK4_ENST00000515069.1_Missense_Mutation_p.S812C|PLK4_ENST00000507249.1_Missense_Mutation_p.S829C|PLK4_ENST00000513090.1_Missense_Mutation_p.S858C|PLK4_ENST00000514379.1_Missense_Mutation_p.S849C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	890					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S890C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CTTTTGAAATCTGTTTTTGTG	0.348000													11	79					0	0	0.001368	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953963	161953963	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:161953963G>T	ENST00000294794.3	-	8	2178	c.1755C>A	c.(1753-1755)atC>atA	p.I585I	OLFML2B_ENST00000367940.2_Silent_p.I586I|OLFML2B_ENST00000367938.1_Silent_p.I68I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	585	Olfactomedin-like.							p.I585I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGTACTTGATGATGTTGCGGG	0.607000													16	111					5.35267e-07	6.42202e-07	0.007413	1	0
C12orf4	57102	broad.mit.edu	37	12	4645226	4645226	+	Silent	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:4645226T>C	ENST00000261250.3	-	2	222	c.135A>G	c.(133-135)ggA>ggG	p.G45G	C12orf4_ENST00000545746.1_Silent_p.G45G	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	45								p.G45G(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GCATCAGACGTCCATGCAAAT	0.363000													9	166					0	0	0.006214	0	0
TBX15	6913	broad.mit.edu	37	1	119427774	119427774	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:119427774C>A	ENST00000369429.3	-	8	1399	c.1390G>T	c.(1390-1392)Gcc>Tcc	p.A464S	TBX15_ENST00000207157.3_Missense_Mutation_p.A358S			Q96SF7	TBX15_HUMAN	T-box 15	464						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A358S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCACCGTAGGCTTCCATCTTG	0.562000													7	56					0.00198382	0.00211131	0.001984	1	0
C1orf173	127254	broad.mit.edu	37	1	75037434	75037434	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:75037434C>A	ENST00000326665.5	-	14	4178	c.3960G>T	c.(3958-3960)atG>atT	p.M1320I	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1320	Glu-rich.							p.M1320I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCTCCTTCCATGTCCCCGT	0.557000													45	160					4.18559e-23	6.75753e-23	0.003610	1	0
IPP	3652	broad.mit.edu	37	1	46206734	46206734	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:46206734C>T	ENST00000396478.3	-	3	665	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	188						actin cytoskeleton|cytoplasm	actin binding	p.R188Q(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTCTTCACTTCGCAAAATTTT	0.393000													22	167					0	0	0.002299	0	0
FRAS1	80144	broad.mit.edu	37	4	79393416	79393416	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:79393416C>G	ENST00000264895.6	+	52	7894	c.7454C>G	c.(7453-7455)aCg>aGg	p.T2485R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2484					cell communication	integral to membrane|plasma membrane	metal ion binding	p.T2485R(1)|p.T2486R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAGATAACGACGGGCCCTAAG	0.542000													7	35					0	0	0.004482	0	0
UAP1	6675	broad.mit.edu	37	1	162535877	162535877	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:162535877A>G	ENST00000271469.3	+	2	321	c.19A>G	c.(19-21)Aaa>Gaa	p.K7E	UAP1_ENST00000367924.1_Missense_Mutation_p.K7E|UAP1_ENST00000367926.4_Missense_Mutation_p.K7E|UAP1_ENST00000367925.1_Missense_Mutation_p.K7E			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	7					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	p.K7E(1)		breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TAATGACCTCAAACTCACGTT	0.413000													12	217					0	0	0.003163	0	0
PNPLA6	10908	broad.mit.edu	37	19	7625548	7625548	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:7625548G>T	ENST00000221249.6	+	32	4031	c.3600G>T	c.(3598-3600)caG>caT	p.Q1200H	PNPLA6_ENST00000450331.3_Missense_Mutation_p.Q1200H|PNPLA6_ENST00000600737.1_Missense_Mutation_p.Q1238H|PNPLA6_ENST00000545201.2_Missense_Mutation_p.Q1173H|PNPLA6_ENST00000414982.3_Missense_Mutation_p.Q1248H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1239					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	p.Q1200H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGGGCTACCAGTACGGGAAGG	0.577000													15	29					8.00594e-06	9.24022e-06	0.007413	1	0
CTNND2	1501	broad.mit.edu	37	5	11236895	11236895	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:11236895G>T	ENST00000304623.8	-	10	1858	c.1669C>A	c.(1669-1671)Cag>Aag	p.Q557K	CTNND2_ENST00000458100.2_Missense_Mutation_p.Q124K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q557K|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q220K|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q466K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	557					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.Q557K(1)|p.Q557E(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAACATCTGAATCACTTCC	0.483000													12	156					9.31168e-06	1.07021e-05	0.001855	1	0
CDH17	1015	broad.mit.edu	37	8	95189928	95189928	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:95189928C>G	ENST00000027335.3	-	4	296	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L	CDH17_ENST00000441892.2_Missense_Mutation_p.V58L|CDH17_ENST00000450165.2_Missense_Mutation_p.V58L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	58	Cadherin 1.					integral to membrane	calcium ion binding	p.V58L(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCAAAAGTCACAGCAGGAGGA	0.398000													35	98					0	0	0.003271	0	0
PRR23B	389151	broad.mit.edu	37	3	138738769	138738769	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:138738769G>T	ENST00000329447.5	-	1	999	c.735C>A	c.(733-735)caC>caA	p.H245Q	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	245	Pro-rich.							p.H245Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGCGCGCGTGGGGACCTG	0.667000													9	45					0.00621372	0.00653666	0.006214	1	0
HEPH	9843	broad.mit.edu	37	X	65423337	65423337	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:65423337A>G	ENST00000519389.1	+	13	2550	c.2371A>G	c.(2371-2373)Atc>Gtc	p.I791V	HEPH_ENST00000419594.1_Missense_Mutation_p.I548V|HEPH_ENST00000374727.3_Missense_Mutation_p.I740V|HEPH_ENST00000441993.2_Missense_Mutation_p.I740V|HEPH_ENST00000343002.2_Missense_Mutation_p.I737V|HEPH_ENST00000336279.5_Missense_Mutation_p.I470V			Q9BQS7	HEPH_HUMAN	hephaestin	737	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.I737V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AATCTACTATATCATGGCAGA	0.527000													8	53					0	0	0.004482	0	0
HFM1	164045	broad.mit.edu	37	1	91781705	91781705	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:91781705T>C	ENST00000370425.3	-	27	3033	c.2935A>G	c.(2935-2937)Aaa>Gaa	p.K979E	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.K658E|HFM1_ENST00000294696.5_Missense_Mutation_p.K211E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	979	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.K979E(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ACAGTTTCTTTTATCTGGGTT	0.264000													8	54					0	0	0.006214	0	0
LNX1	84708	broad.mit.edu	37	4	54347885	54347885	+	Splice_Site	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:54347885A>G	ENST00000306888.2	-	6	1449		c.e6+1		LNX1_ENST00000263925.7_Splice_Site|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase							cytoplasm	zinc ion binding	p.?(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TAGAGGCCTCACCTTGGGAGT	0.562000													6	28					0	0	0.001168	0	0
ZNF652	22834	broad.mit.edu	37	17	47376242	47376242	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:47376242T>A	ENST00000362063.2	-	6	1672	c.1354A>T	c.(1354-1356)Agc>Tgc	p.S452C	ZNF652_ENST00000430262.2_Missense_Mutation_p.S452C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S452C(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TTGGGGCGGCTGGTGAAGCTT	0.468000													21	83					0	0	0.002780	0	0
RHBDD1	84236	broad.mit.edu	37	2	227779021	227779021	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:227779021A>T	ENST00000392062.2	+	8	1334	c.810A>T	c.(808-810)gaA>gaT	p.E270D	RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000409053.1_Missense_Mutation_p.E104D|RHBDD1_ENST00000341329.3_Missense_Mutation_p.E270D	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	270						integral to membrane	serine-type endopeptidase activity	p.E270D(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GACTGAGTGAAGAAGAACAGC	0.488000													18	21					0	0	0.007413	0	0
FSIP2	401024	broad.mit.edu	37	2	186672480	186672480	+	Silent	SNP	C	C	A	rs138135058	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:186672480C>A	ENST00000343098.5	+	17	18714	c.18714C>A	c.(18712-18714)atC>atA	p.I6238I	FSIP2_ENST00000424728.1_Silent_p.I6149I	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.I847I(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTGAAAACATCGTTGAAAAGA	0.393000													23	54					1.22574e-08	1.56328e-08	0.002299	1	0
MSH4	4438	broad.mit.edu	37	1	76313920	76313920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:76313920C>T	ENST00000263187.3	+	8	1293	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	397					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.Q397*(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGATACAGAGCAGCTTCTTTC	0.264000								Mismatch excision repair (MMR)					5	81					0	0	0.000602	0	0
CEP128	145508	broad.mit.edu	37	14	81227931	81227931	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr14:81227931C>G	ENST00000555265.1	-	17	2778	c.2403G>C	c.(2401-2403)gaG>gaC	p.E801D	CEP128_ENST00000281129.3_Missense_Mutation_p.E801D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	801						centriole|spindle pole		p.E801D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCTTAAGTGCTCCTCTTCAA	0.383000													32	74					0	0	0.009535	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389421	150389421	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:150389421A>C	ENST00000223293.5	+	3	141	c.47A>C	c.(46-48)cAa>cCa	p.Q16P		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	16						integral to membrane	GTP binding	p.Q16P(1)		kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAAAGGGCCAATGTGCCAGC	0.453000													11	68					0	0	0.000978	0	0
GIPC3	126326	broad.mit.edu	37	19	3586950	3586950	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:3586950C>G	ENST00000322315.5	+	3	595	c.550C>G	c.(550-552)Cag>Gag	p.Q184E		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	184	PDZ.							p.Q184E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCAAGTCCCAGCCCTTCAC	0.657000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	31					0	0	0.004672	0	0
ASZ1	136991	broad.mit.edu	37	7	117067469	117067469	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:117067469C>T	ENST00000284629.2	-	1	108	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	16					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.E16K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCGCTACTCTCGCCTCCGCCA	0.667000											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	101					0	0	0.001984	0	0
PTPRJ	5795	broad.mit.edu	37	11	48185982	48185982	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:48185982A>G	ENST00000418331.2	+	24	4122	c.3770A>G	c.(3769-3771)tAc>tGc	p.Y1257C		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1257	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	p.Y1257C(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CGTCTCATCTACCAGATAGAG	0.478000													23	71					0	0	0.002299	0	0
FREM1	158326	broad.mit.edu	37	9	14797585	14797585	+	Silent	SNP	T	T	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:14797585T>A	ENST00000380881.4	-	22	4568	c.3753A>T	c.(3751-3753)acA>acT	p.T1251T	FREM1_ENST00000380880.3_Silent_p.T1250T|FREM1_ENST00000422223.2_Silent_p.T1250T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1250					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.T1251T(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACAATTGGATTGTAAAATCAT	0.368000													60	48					0	0	0.003610	0	0
ZNF91	7644	broad.mit.edu	37	19	23544297	23544297	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:23544297C>G	ENST00000300619.7	-	4	1689	c.1484G>C	c.(1483-1485)tGt>tCt	p.C495S	ZNF91_ENST00000397082.2_Missense_Mutation_p.C463S|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	495						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C495S(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGCTTTGCCACATTCTTCACA	0.368000													4	92					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179416962	179416962	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:179416962A>T	ENST00000589042.1	-	335	90889	c.90665T>A	c.(90664-90666)cTt>cAt	p.L30222H	TTN_ENST00000342992.6_Missense_Mutation_p.L27654H|TTN_ENST00000342175.6_Missense_Mutation_p.L21349H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L28581H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L21157H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L21282H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28581	Fibronectin type-III 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L21282H(1)|p.L27654H(1)|p.L21157H(1)|p.L21349H(1)|p.L27652H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGGGCCAAGGGTGATGAC	0.433000													18	190					0	0	0.006122	0	0
AMER1	139285	broad.mit.edu	37	X	63406053	63406053	+	Splice_Site	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:63406053T>C	ENST00000374869.3	-	3	2631	c.2357_splice	c.e3-1	p.R787_splice	AMER1_ENST00000330258.3_3'UTR|AMER1_ENST00000403336.1_Splice_Site_p.R787_splice					APC membrane recruitment protein 1									p.0?(67)|p.R787G(1)									CCTGGGCATCTTCTGCTGTCC	0.517000													36	73					0	0	0.003610	0	0
GEMIN5	25929	broad.mit.edu	37	5	154271039	154271039	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:154271039C>G	ENST00000285873.7	-	26	4099	c.4024G>C	c.(4024-4026)Gac>Cac	p.D1342H		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1342					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.D1342H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGTCTCAAGTCTAGTTCTGAA	0.478000													5	283					0	0	0.001984	0	0
RIF1	55183	broad.mit.edu	37	2	152322272	152322272	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:152322272A>T	ENST00000243326.4	+	29	6721	c.6238A>T	c.(6238-6240)Att>Ttt	p.I2080F	RIF1_ENST00000430328.2_Missense_Mutation_p.I2080F|RIF1_ENST00000428287.2_Missense_Mutation_p.I2080F|RIF1_ENST00000453091.2_Missense_Mutation_p.I2080F|RIF1_ENST00000444746.2_Missense_Mutation_p.I2080F			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2080	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.I2080F(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAAGGAATCATTGACGCTAA	0.333000													9	66					0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9072226	9072226	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:9072226A>T	ENST00000397910.4	-	3	15423	c.15220T>A	c.(15220-15222)Tct>Act	p.S5074T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5076	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5074T(2)|p.S707T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTAGGCCAGAGGTGAGAAGT	0.473000													29	150					0	0	0.009535	0	0
COL7A1	1294	broad.mit.edu	37	3	48603953	48603953	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:48603953G>T	ENST00000328333.8	-	112	8455	c.8348C>A	c.(8347-8349)gCt>gAt	p.A2783D	COL7A1_ENST00000454817.1_Missense_Mutation_p.A2751D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2783	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.A2783D(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGTCAGTGCAGCTTCTCCCTT	0.677000													6	89					2.52707e-12	3.53208e-12	0.006214	1	0
EHD3	30845	broad.mit.edu	37	2	31472333	31472333	+	Splice_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:31472333G>T	ENST00000322054.5	+	3	786	c.502_splice	c.e3+1	p.R167_splice	EHD3_ENST00000541626.1_Splice_Site_p.R167_splice	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	167					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.R167R(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GGATCAGCCGGGGTAAGCAAC	0.587000													20	28					5.45024e-15	7.96405e-15	0.003330	1	0
POTEH	23784	broad.mit.edu	37	22	16287898	16287898	+	Translation_Start_Site	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:16287898G>T	ENST00000343518.6	-	0	39					NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCTTTTAACAGCCAGGGAAGG	0.532000													32	60					3.76525e-18	5.75583e-18	0.003610	1	0
OR5B3	441608	broad.mit.edu	37	11	58170853	58170853	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:58170853G>A	ENST00000309403.2	-	1	29	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTAGAAGAATGAATTGTGTTA	0.383000													24	142					0	0	0.003954	0	0
NMD3	51068	broad.mit.edu	37	3	160951236	160951236	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:160951236G>T	ENST00000460469.1	+	4	781	c.326G>T	c.(325-327)aGa>aTa	p.R109I	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.R109I|NMD3_ENST00000351193.2_Missense_Mutation_p.R109I			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	109					protein transport	cytoplasm|nucleolus|nucleoplasm		p.R109I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CATTCTAAGAGACTTAAAGTT	0.378000													13	33					5.50884e-06	6.36486e-06	0.001368	1	0
LOC653786	653786	broad.mit.edu	37	16	22558346	22558346	+	RNA	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:22558346C>G	ENST00000550753.1	+	0	1328					NR_003676.2																						GTACTTTTCTCAGGAGATGAA	0.423000													7	90					0	0	0.008291	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559495	140559495	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:140559495C>T	ENST00000239444.2	+	1	2125	c.1880C>T	c.(1879-1881)aCc>aTc	p.T627I		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		627	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T627I(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGTGCGCACCGCCAGGCTG	0.701000													19	62					0	0	0.003271	0	0
ARG1	383	broad.mit.edu	37	6	131894469	131894469	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:131894469C>G	ENST00000368087.3	+	1	186	c.47C>G	c.(46-48)tCa>tGa	p.S16*	ARG1_ENST00000476845.1_Nonsense_Mutation_p.S16*|ARG1_ENST00000356962.2_Nonsense_Mutation_p.S16*|ARG1_ENST00000498260.1_3'UTR			P05089	ARGI1_HUMAN	arginase 1	16					arginine catabolic process|urea cycle	cytosol	arginase activity	p.S16*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GCTCCTTTCTCAAAGGGACAG	0.408000													4	71					0	0	0.001168	0	0
EPHA8	2046	broad.mit.edu	37	1	22924292	22924292	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:22924292C>G	ENST00000166244.3	+	11	2126	c.2054C>G	c.(2053-2055)gCg>gGg	p.A685G		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A685G(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGAGCGAGGCGTCCATCATG	0.662000													9	114					0	0	0.004482	0	0
INPP4B	8821	broad.mit.edu	37	4	143191873	143191873	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:143191873C>A	ENST00000513000.1	-	11	991	c.558G>T	c.(556-558)atG>atT	p.M186I	INPP4B_ENST00000308502.4_Missense_Mutation_p.M186I|INPP4B_ENST00000262992.4_Missense_Mutation_p.M186I|INPP4B_ENST00000508116.1_Missense_Mutation_p.M186I|INPP4B_ENST00000509777.1_Missense_Mutation_p.M186I	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	186					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.M186I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAATCTCCCCCATCTTCACGA	0.433000													10	106					0.000219431	0.000242017	0.002450	1	0
HCRTR2	3062	broad.mit.edu	37	6	55113470	55113470	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:55113470G>T	ENST00000370862.3	+	2	593	c.257G>T	c.(256-258)aGg>aTg	p.R86M		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	86					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R86M(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACCACATGAGGACGGTAACC	0.453000													13	139					3.27435e-08	4.11364e-08	0.002450	1	0
TP53	7157	broad.mit.edu	37	17	7579373	7579373	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:7579373C>T	ENST00000420246.2	-	4	446	c.314G>A	c.(313-315)gGc>gAc	p.G105D	TP53_ENST00000413465.2_Missense_Mutation_p.G105D|TP53_ENST00000445888.2_Missense_Mutation_p.G105D|TP53_ENST00000455263.2_Missense_Mutation_p.G105D|TP53_ENST00000269305.4_Missense_Mutation_p.G105D|TP53_ENST00000359597.4_Missense_Mutation_p.G105D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> 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.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)		ACCGTAGCTGCCCTGGTAGGT	0.622000		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)			30	61					0	0	0.008361	0	0
INTS3	65123	broad.mit.edu	37	1	153745702	153745702	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:153745702C>T	ENST00000456435.1	+	29	3851	c.2665C>T	c.(2665-2667)Cgg>Tgg	p.R889W	INTS3_ENST00000512605.1_Missense_Mutation_p.R889W|INTS3_ENST00000318967.2_Missense_Mutation_p.R1029W|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R1029W			Q68E01	INT3_HUMAN	integrator complex subunit 3	1030					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	p.R1029W(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCTACCAAGCGGAAACGAAA	0.592000													26	277					0	0	0.009535	0	0
NLRP12	91662	broad.mit.edu	37	19	54327411	54327411	+	Silent	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:54327411G>C	ENST00000324134.6	-	1	186	c.18C>G	c.(16-18)ggC>ggG	p.G6G	NLRP12_ENST00000391773.1_Silent_p.G6G|NLRP12_ENST00000535162.1_Silent_p.G6G|NLRP12_ENST00000354278.3_Silent_p.G6G|NLRP12_ENST00000351894.4_Silent_p.G6G|NLRP12_ENST00000345770.5_Silent_p.G6G|NLRP12_ENST00000391772.1_Silent_p.G6G|NLRP12_ENST00000391775.3_Silent_p.G6G	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	6	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.G6G(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCCGTCCCTGCCTGCGGTTC	0.612000													10	33					0	0	0.001368	0	0
USH2A	7399	broad.mit.edu	37	1	216373152	216373152	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:216373152G>A	ENST00000366943.2	-	17	4014	c.3628C>T	c.(3628-3630)Ctg>Ttg	p.L1210L	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Silent_p.L1210L|USH2A_ENST00000307340.3_Silent_p.L1210L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1210	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L1210L(1)|p.L1210M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATGGAACCAGATTCCAGATG	0.507000										HNSCC(13;0.011)			14	83					0	0	0.003163	0	0
CYP20A1	57404	broad.mit.edu	37	2	204116833	204116833	+	Splice_Site	SNP	G	G	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:204116833G>C	ENST00000356079.4	+	4	555		c.e4+1		CYP20A1_ENST00000461371.1_Splice_Site|CYP20A1_ENST00000429815.2_Splice_Site	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1							integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.?(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CCTCCTAAAGGTAAGGTGATA	0.353000													7	100					0	0	0.003080	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414103	157414103	+	Silent	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:157414103G>A	ENST00000389413.3	-	14	2311	c.2208C>T	c.(2206-2208)gcC>gcT	p.A736A	PTPRN2_ENST00000409483.1_Silent_p.A727A|PTPRN2_ENST00000404321.2_Silent_p.A788A|PTPRN2_ENST00000389416.4_Silent_p.A748A|PTPRN2_ENST00000389418.4_Silent_p.A765A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	765						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A765A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCTCCCTCTGGGCCACGAACG	0.637000													90	495					0	0	0.003610	0	0
GLYATL1	92292	broad.mit.edu	37	11	58715346	58715346	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:58715346T>C	ENST00000300079.5	+	4	237	c.187T>C	c.(187-189)Tat>Cat	p.Y63H	GLYATL1_ENST00000317391.4_Missense_Mutation_p.Y32H|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	32						mitochondrion	glycine N-acyltransferase activity	p.Y32H(1)|p.Y63H(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGGCTCTGTGTATCACATCAA	0.498000													27	84					0	0	0.002445	0	0
CASKIN2	57513	broad.mit.edu	37	17	73503731	73503731	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:73503731C>A	ENST00000321617.3	-	4	764	c.178G>T	c.(178-180)Ggc>Tgc	p.G60C	CASKIN2_ENST00000581870.1_Missense_Mutation_p.G60C|CASKIN2_ENST00000433559.2_5'UTR	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	60						cytoplasm		p.G60C(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGGCTGCCCCCCAAAGCA	0.607000													15	32					1.56452e-12	2.19234e-12	0.007413	1	0
ZNF536	9745	broad.mit.edu	37	19	30935936	30935936	+	Silent	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:30935936G>T	ENST00000355537.3	+	2	1614	c.1467G>T	c.(1465-1467)ctG>ctT	p.L489L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L489L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTCCCTCCTGGGATGCCTCA	0.657000													18	74					3.32936e-07	4.03436e-07	0.006122	1	0
SORBS3	10174	broad.mit.edu	37	8	22429318	22429318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:22429318C>T	ENST00000240123.7	+	19	2214	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	SORBS3_ENST00000428103.1_Nonsense_Mutation_p.Q269*	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	611					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	p.Q611*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TAACACCTCTCAGATACACTG	0.607000													9	56					0	0	0.008291	0	0
EPHA8	2046	broad.mit.edu	37	1	22913015	22913015	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:22913015T>G	ENST00000166244.3	+	4	938	c.866T>G	c.(865-867)cTg>cGg	p.L289R	EPHA8_ENST00000538803.1_Missense_Mutation_p.L289R|EPHA8_ENST00000374644.4_Missense_Mutation_p.L289R	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	289	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.L289R(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGACCAGCTGTGTGCCCGC	0.687000													7	50					0	0	0.006214	0	0
SMTN	6525	broad.mit.edu	37	22	31484540	31484540	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:31484540G>T	ENST00000333137.7	+	4	460	c.242G>T	c.(241-243)cGg>cTg	p.R81L	SMTN_ENST00000358743.1_Missense_Mutation_p.R81L|SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000347557.2_Missense_Mutation_p.R81L	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	81					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	p.R81L(2)|p.R73L(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCCTGGCACGGCTGGCAGGG	0.642000													30	151					3.93418e-24	6.40844e-24	0.004289	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58565273	58565273	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr19:58565273G>A	ENST00000282326.1	+	6	1328	c.1081G>A	c.(1081-1083)Gtc>Atc	p.V361I		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	361					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V361I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGGGAGTCCGTCCCACCCAG	0.662000													12	43					0	0	0.001368	0	0
CELA2A	63036	broad.mit.edu	37	1	15789989	15789989	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:15789989delC	ENST00000359621.4	+	5	490	c.465delC	c.(463-465)tgfs	p.C155fs		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	155	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						ACTACCCCTGCTACGTCACGG	0.642													8	97	---	---	---	---					
GPSM2	29899	broad.mit.edu	37	1	109465136	109465136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:109465136delA	ENST00000406462.1	+	14	2311	c.1538delA	c.(1537-1539)gafs	p.E513fs	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Frame_Shift_Del_p.E513fs			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	513					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TGCTTACAAGAAAAGAACTGC	0.378													12	170	---	---	---	---					
LOR	4014	broad.mit.edu	37	1	153233535	153233536	+	In_Frame_Ins	INS	-	-	CGG			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:153233535_153233536insCGG	ENST00000368742.3	+	2	167_168	c.110_111insCGG	c.(109-111)tgg>tCGGgg	p.37_37W>SG		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	37					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			tgcggcttcttcggcggcggcg	0.752													7	19	---	---	---	---					
FCRL5	83416	broad.mit.edu	37	1	157504517	157504517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:157504517delC	ENST00000361835.3	-	8	1725	c.1568delG	c.(1567-1569)gafs	p.G523fs	FCRL5_ENST00000368191.3_Frame_Shift_Del_p.G438fs|FCRL5_ENST00000356953.4_Frame_Shift_Del_p.G523fs|FCRL5_ENST00000368190.3_Frame_Shift_Del_p.G523fs|FCRL5_ENST00000368189.3_Frame_Shift_Del_p.G523fs	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	523	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGACACTCTTCCCACAGAGGG	0.512													7	79	---	---	---	---					
DUSP27	92235	broad.mit.edu	37	1	167096014	167096014	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:167096014delT	ENST00000361200.2	+	6	1812	c.1646delT	c.(1645-1647)acfs	p.I549fs	DUSP27_ENST00000443333.1_Frame_Shift_Del_p.I549fs|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Frame_Shift_Del_p.I549fs			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	549					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGATGGAAGATCAAGAGAATC	0.552													17	144	---	---	---	---					
PLA2G4A	5321	broad.mit.edu	37	1	186946793	186946794	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr1:186946793_186946794insT	ENST00000367466.3	+	16	1985_1986	c.1833_1834insT	c.(1831-1836)gtttgafs	p.*612fs	PLA2G4A_ENST00000442353.2_Frame_Shift_Ins_p.*552fs	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	612	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATCCTTATGTGTTTGATCGGGA	0.416													20	97	---	---	---	---					
REV1	51455	broad.mit.edu	37	2	100027159	100027159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:100027159delG	ENST00000258428.3	-	14	2571	c.2343delC	c.(2341-2343)gcfs	p.A781fs	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Frame_Shift_Del_p.A780fs	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	781					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCTTACCTGGCAATGTTAT	0.378								Direct reversal of damage					9	231	---	---	---	---					
GCC2	9648	broad.mit.edu	37	2	109087055	109087056	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr2:109087055_109087056delAG	ENST00000309863.6	+	6	1984_1985	c.1270_1271delAG	c.(1270-1272)afs	p.R424fs		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	424					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACAGCATAACAGAGAAGTACAG	0.292													7	87	---	---	---	---					
ARPP21	10777	broad.mit.edu	37	3	35750461	35750461	+	Splice_Site	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:35750461delC	ENST00000187397.4	+	11	1252	c.795_splice	c.e11-1	p.Q266_splice	ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000444190.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	266						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTCTGTTCAGCAAAACAGAAT	0.368													7	53	---	---	---	---					
CCR5	1234	broad.mit.edu	37	3	46415173	46415173	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:46415173delC	ENST00000343801.4	+	3	1137	c.780delC	c.(778-780)ttfs	p.F260fs	CCR5_ENST00000445772.1_Frame_Shift_Del_p.F260fs|CCR5_ENST00000292303.4_Frame_Shift_Del_p.F260fs|RP11-24F11.2_ENST00000451485.1_RNA	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	260					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TGAACACCTTCCAGGAATTCT	0.473													68	488	---	---	---	---					
FEZF2	55079	broad.mit.edu	37	3	62358243	62358243	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr3:62358243delC	ENST00000283268.3	-	2	595	c.301delG	c.(301-303)cgfs	p.A101fs	FEZF2_ENST00000475839.1_Frame_Shift_Del_p.A101fs|FEZF2_ENST00000486811.1_Frame_Shift_Del_p.A101fs	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	101					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		ccgccgccCGCCCGGAGGCTG	0.716													11	13	---	---	---	---					
KIAA1211	57482	broad.mit.edu	37	4	57182816	57182817	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:57182816_57182817insA	ENST00000504228.1	+	6	3253_3254	c.3148_3149insA	c.(3148-3150)agafs	p.R1050fs	KIAA1211_ENST00000264229.6_Frame_Shift_Ins_p.R1050fs|KIAA1211_ENST00000541073.1_Frame_Shift_Ins_p.R1043fs			Q6ZU35	K1211_HUMAN	KIAA1211	1050										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGCCACTCAGCAAGAGAAACCT	0.609													10	51	---	---	---	---					
LOC90768	90768	broad.mit.edu	37	4	182827058	182827058	+	RNA	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr4:182827058delC	ENST00000509012.1	-	0	378																											ACATTAAGTGCAAGCTCAGCA	0.388													8	106	---	---	---	---					
VCAN	1462	broad.mit.edu	37	5	82815951	82815966	+	Frame_Shift_Del	DEL	TAATTATGCCTGATAA	TAATTATGCCTGATAA	-	rs138840154		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:82815951_82815966delTAATTATGCCTGATAA	ENST00000265077.3	+	7	2391_2406	c.1826_1841delTAATTATGCCTGATAA	c.(1825-1842)ttfs	p.LIMPDN609fs	VCAN_ENST00000512590.2_Frame_Shift_Del_p.LIMPDN561fs|VCAN_ENST00000342785.4_Frame_Shift_Del_p.LIMPDN609fs|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	609	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTTTCCCCTTTAATTATGCCTGATAATAATGGATCA	0.412													10	129	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118556759	118556759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:118556759delG	ENST00000311085.8	+	36	8277	c.8197delG	c.(8197-8199)gcfs	p.G2733fs	DMXL1_ENST00000539542.1_Frame_Shift_Del_p.G2754fs|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2733										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TACACAGACTGGCAGAGGAGC	0.363													7	35	---	---	---	---					
TENM2	57451	broad.mit.edu	37	5	167674040	167674040	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr5:167674040delC	ENST00000519204.1	+	26	5851	c.5733delC	c.(5731-5733)gtfs	p.V1911fs	TENM2_ENST00000403607.2_Frame_Shift_Del_p.V1856fs|TENM2_ENST00000520394.1_Frame_Shift_Del_p.V1793fs|TENM2_ENST00000518659.1_Frame_Shift_Del_p.V2032fs|TENM2_ENST00000545108.1_Frame_Shift_Del_p.V2031fs					teneurin transmembrane protein 2																		CAGAGATTGTCTACGACAGTA	0.532													30	81	---	---	---	---					
GOPC	57120	broad.mit.edu	37	6	117896421	117896421	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:117896421delC	ENST00000535237.1	-	4	798	c.569delG	c.(568-570)ctfs	p.R191fs	GOPC_ENST00000368498.2_Frame_Shift_Del_p.R191fs|GOPC_ENST00000052569.6_Frame_Shift_Del_p.R183fs					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TATATGTCTACGAAGGGCTTC	0.408			O	ROS1	glioblastoma								9	84	---	---	---	---					
SERAC1	84947	broad.mit.edu	37	6	158571537	158571537	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr6:158571537delC	ENST00000367102.2	-	4	354	c.213delG	c.(211-213)atfs	p.M71fs	SERAC1_ENST00000607000.1_Frame_Shift_Del_p.M71fs|SERAC1_ENST00000367104.3_Frame_Shift_Del_p.M71fs|SERAC1_ENST00000367101.1_Frame_Shift_Del_p.M71fs			Q96JX3	SRAC1_HUMAN	serine active site containing 1	71					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TATATGACTTCATTTTTTCTC	0.328													21	86	---	---	---	---					
RP11-321E8.3	0	broad.mit.edu	37	7	63581088	63581089	+	RNA	INS	-	-	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:63581088_63581089insT	ENST00000434932.1	+	0	115																											GTAAGTTGTGCTTAGAAAGTAG	0.421													2	4	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64532452	64532452	+	RNA	DEL	T	T	-	rs67432959		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:64532452delT	ENST00000426828.1	+	0	1228					NR_033416.1																						atgcccagccttttttttttt	0.408													4	6	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91625048	91625049	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:91625048_91625049insA	ENST00000359028.2	+	8	1125_1126	c.900_901insA	c.(898-903)caaaaafs	p.QK300fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.QK288fs|AKAP9_ENST00000394564.1_Frame_Shift_Ins_p.QK288fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.QK300fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	300					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGATTATCAGAAAAAGAAAGA	0.347			T	BRAF	papillary thyroid								7	103	---	---	---	---					
GIGYF1	64599	broad.mit.edu	37	7	100283029	100283029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:100283029delG	ENST00000275732.5	-	10	2339	c.1130delC	c.(1129-1131)cafs	p.P377fs	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	377										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCCCCAGAGTGGGCCCAGGGT	0.642													10	132	---	---	---	---					
MYL10	93408	broad.mit.edu	37	7	101265420	101265421	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:101265420_101265421delAT	ENST00000223167.4	-	5	586_587	c.409_410delAT	c.(409-411)cfs	p.I137fs		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	137						mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CGTGAAGTTGATGGGTCCGGGG	0.609													12	203	---	---	---	---					
COG5	10466	broad.mit.edu	37	7	107204325	107204325	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr7:107204325delC	ENST00000393603.2	-	1	381	c.110delG	c.(109-111)gcfs	p.G37fs	COG5_ENST00000347053.3_Frame_Shift_Del_p.G37fs|COG5_ENST00000297135.3_Frame_Shift_Del_p.G37fs|DUS4L_ENST00000498786.1_Intron	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	37					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AGCGACGCTGCCGCCGCCACC	0.677													12	81	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37728847	37728856	+	Frame_Shift_Del	DEL	GTCTCCGAGG	GTCTCCGAGG	-	rs75558150	byFrequency	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:37728847_37728856delGTCTCCGAGG	ENST00000330843.4	-	4	3476_3485	c.3464_3473delCCTCGGAGAC	c.(3463-3474)cafs	p.PSET1155fs	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1155					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACTGGATGTGTCTCCGAGGGTGAGACCCA	0.538											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	163	---	---	---	---					
LRP12	29967	broad.mit.edu	37	8	105510050	105510051	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:105510050_105510051insA	ENST00000276654.5	-	5	837_838	c.729_730insT	c.(727-732)atactgfs	p.L244fs	LRP12_ENST00000424843.2_Frame_Shift_Ins_p.L225fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	244	LDL-receptor class A 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCAAGGCAGTCAATGTTCCCAT	0.406													23	182	---	---	---	---					
ZFAT	57623	broad.mit.edu	37	8	135669873	135669874	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr8:135669873_135669874insA	ENST00000520727.1	-	3	389_390	c.90_91insT	c.(88-93)gtatgafs	p.*31fs	ZFAT_ENST00000429442.2_Frame_Shift_Ins_p.*31fs|ZFAT_ENST00000523399.1_Frame_Shift_Ins_p.*43fs|ZFAT_ENST00000520214.1_Frame_Shift_Ins_p.*31fs|ZFAT_ENST00000377838.3_Frame_Shift_Ins_p.*43fs|ZFAT_ENST00000520356.1_Frame_Shift_Ins_p.*31fs	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATAATCTCATCAACATTAACCC	0.500													17	121	---	---	---	---					
KGFLP2	654466	broad.mit.edu	37	9	41962753	41962756	+	RNA	DEL	GAAA	GAAA	-	rs138206184	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:41962753_41962756delGAAA	ENST00000454645.1	-	0	757					NR_003670.1																						TCCTTCTGTTGaaacaaacaaaca	0.343													3	6	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	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						AGCAGGGGGCGCTGGGGAGTT	0.542													3	6	---	---	---	---					
CDNF	441549	broad.mit.edu	37	10	14870272	14870273	+	Splice_Site	INS	-	-	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr10:14870272_14870273insT	ENST00000378442.1	-	4	313		c.e4-1		CDNF_ENST00000378441.2_Splice_Site			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor							extracellular region	growth factor activity			breast(2)|large_intestine(2)|lung(1)	5						TCTTTACATACTGGAAGGAACA	0.386													10	137	---	---	---	---					
KCNA4	3739	broad.mit.edu	37	11	30033354	30033354	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr11:30033354delT	ENST00000328224.6	-	2	2105	c.872delA	c.(871-873)agfs	p.K291fs		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	291						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCAAATCTGCTTTTTAAATTC	0.498													8	74	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													14	107	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400636	78400636	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:78400636delC	ENST00000397909.2	+	8	1491	c.1318delC	c.(1318-1320)ccfs	p.P440fs	NAV3_ENST00000228327.6_Frame_Shift_Del_p.P440fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.P440fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.P440fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	440						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAATAGCAGTCCCAAAGTGTC	0.423										HNSCC(70;0.22)			58	120	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78531021	78531021	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:78531021delC	ENST00000397909.2	+	19	4679	c.4506delC	c.(4504-4506)atfs	p.I1502fs	NAV3_ENST00000228327.6_Frame_Shift_Del_p.I1502fs|NAV3_ENST00000536525.2_Frame_Shift_Del_p.I1502fs|NAV3_ENST00000266692.7_Frame_Shift_Del_p.I1325fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1502	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAACAGCATCCCAGCCCAAG	0.493										HNSCC(70;0.22)			23	88	---	---	---	---					
SVOP	55530	broad.mit.edu	37	12	109332670	109332671	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr12:109332670_109332671insT	ENST00000299134.5	-	7	632_633	c.633_634insA	c.(631-636)cccttafs	p.PL211fs		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						CCTCTTTAAGGTGGCGATTGCC	0.540													64	269	---	---	---	---					
PRKCB	5579	broad.mit.edu	37	16	24196453	24196453	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:24196453delG	ENST00000303531.7	+	14	1707	c.1555delG	c.(1555-1557)ggfs	p.G519fs	PRKCB_ENST00000321728.7_Frame_Shift_Del_p.G519fs	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	519	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCAGCCCTATGGGAAGTCCGT	0.433													20	223	---	---	---	---					
RP11-652G5.1	0	broad.mit.edu	37	16	32616161	32616161	+	RNA	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr16:32616161delC	ENST00000562976.1	+	0	245																											GCCCCCAGCACCCAAGTTTGC	0.527													9	51	---	---	---	---					
NR1D1	9572	broad.mit.edu	37	17	38252783	38252783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:38252783delC	ENST00000246672.3	-	4	1147	c.517delG	c.(517-519)agfs	p.E173fs		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	173					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GAGCAATTCTCATTCTTCAGA	0.547													26	96	---	---	---	---					
HOXB6	3216	broad.mit.edu	37	17	46673903	46673903	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:46673903delG	ENST00000484302.2	-	3	1169	c.547delC	c.(547-549)tgfs	p.L183fs	HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB6_ENST00000225648.3_Frame_Shift_Del_p.L183fs|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA			P17509	HXB6_HUMAN	homeobox B6	183					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTCAGGCACAGGGCGTGCGCG	0.582													38	268	---	---	---	---					
COL1A1	1277	broad.mit.edu	37	17	48273981	48273989	+	In_Frame_Del	DEL	AGGACCAGC	AGGACCAGC	-	rs72645337		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr17:48273981_48273989delAGGACCAGC	ENST00000225964.5	-	12	965_973	c.847_855delGCTGGTCCT	c.(847-855)del	p.AGP283del		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	283	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTCTTACCTTAGGACCAGCAGGACCAGCA	0.507			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						18	464	---	---	---	---					
LOC727993	727993	broad.mit.edu	37	20	1933766	1933769	+	RNA	DEL	AAGG	AAGG	-	rs147387918	by1000genomes	TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:1933766_1933769delAAGG	ENST00000446562.1	+	0	476																											ggaggaaggaaaggaaggaaggaa	0.529													2	4	---	---	---	---					
PTGIS	5740	broad.mit.edu	37	20	48140741	48140741	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr20:48140741delG	ENST00000244043.4	-	6	738	c.709delC	c.(709-711)tgfs	p.L237fs	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	237					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	AGCTTCCACAGGCGACTTTTG	0.607													18	161	---	---	---	---					
PPIL2	23759	broad.mit.edu	37	22	22039174	22039176	+	In_Frame_Del	DEL	AGA	AGA	-	rs140641317		TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:22039174_22039176delAGA	ENST00000406385.1	+	10	746_748	c.686_688delAGA	c.(685-690)gag>g	p.EK229del	PPIL2_ENST00000335025.7_In_Frame_Del_p.EK229del|PPIL2_ENST00000492445.2_In_Frame_Del_p.EK229del|PPIL2_ENST00000398831.3_In_Frame_Del_p.EK229del|PPIL2_ENST00000456792.2_In_Frame_Del_p.EK208del|PPIL2_ENST00000412327.1_In_Frame_Del_p.EK229del			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	229					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AAGGCCCCGGAGAAGAAGAAAGT	0.571													22	54	---	---	---	---					
TCN2	6948	broad.mit.edu	37	22	31013404	31013407	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chr22:31013404_31013407delACAG	ENST00000215838.3	+	7	1522_1525	c.1028_1031delACAG	c.(1027-1032)tafs	p.YR343fs	TCN2_ENST00000407817.3_Frame_Shift_Del_p.YR316fs|TCN2_ENST00000405742.3_Frame_Shift_Del_p.YR339fs			P20062	TCO2_HUMAN	transcobalamin II	343					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCCGCCGTACAGACAGTCCATC	0.559													11	93	---	---	---	---					
TGIF2LX	90316	broad.mit.edu	37	X	89177383	89177383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4398-01A-01D-1265-08	TCGA-05-4398-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4b2be6-e149-4c22-93e1-512c3c6bbea8	27409a77-e75c-421e-9540-b45e9b98c73e	g.chrX:89177383delG	ENST00000561129.2	+	1	429	c.299delG	c.(298-300)tgfs	p.W100fs	TGIF2LX_ENST00000283891.5_Frame_Shift_Del_p.W100fs			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	100						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATTTCTAACTGGTTTATCAAT	0.468													43	275	---	---	---	---					
