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
LGR6	59352	broad.mit.edu	37	1	202287980	202287980	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:202287980C>T	ENST00000367278.3	+	18	2638	c.2549C>T	c.(2548-2550)cCc>cTc	p.P850L	LGR6_ENST00000255432.7_Missense_Mutation_p.P798L|LGR6_ENST00000439764.2_Missense_Mutation_p.P711L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	850						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GACTCAGGGCCCCTAGCCTAT	0.632000													30	65					0	0	0.006320	0	0
SCTR	6344	broad.mit.edu	37	2	120221717	120221717	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:120221717G>A	ENST00000019103.5	-	6	885	c.618C>T	c.(616-618)acC>acT	p.T206T		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	206					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CATCGCAGTAGGTGACATCAT	0.572000													26	67					0	0	0.006320	0	0
CLEC10A	10462	broad.mit.edu	37	17	6979059	6979059	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:6979059C>T	ENST00000576617.1	-	7	854	c.585G>A	c.(583-585)agG>agA	p.R195R	CLEC10A_ENST00000254868.4_Silent_p.R222R|CLEC10A_ENST00000416562.2_Silent_p.R195R|CLEC10A_ENST00000571664.1_Silent_p.R198R			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	222	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCTGCTCCTCCCTGGAGTTGA	0.537000													13	36					0	0	0.002450	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627508	43627508	+	Silent	SNP	G	G	T	rs142831593	by1000genomes	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:43627508G>T	ENST00000332857.6	-	4	1207	c.1179C>A	c.(1177-1179)ccC>ccA	p.P393P		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TCTGAGGTCCGGGCAGCTGTT	0.498000													82	270					1.8615e-32	2.22925e-32	0.003610	1	0
LILRP2	79166	broad.mit.edu	37	19	55224606	55224606	+	RNA	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:55224606C>T	ENST00000413439.1	+	0	1778																											AGCCTCACACCCCCAGGATTA	0.607000													9	17					0	0	0.006214	0	0
TRIO	7204	broad.mit.edu	37	5	14488282	14488282	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:14488282C>T	ENST00000344204.4	+	48	7569	c.7545C>T	c.(7543-7545)cgC>cgT	p.R2515R	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2515					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACACCCCGCCACGCGGCCC	0.711000													6	19					0	0	0.001984	0	0
SLC9A3	6550	broad.mit.edu	37	5	477530	477530	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:477530G>A	ENST00000264938.3	-	11	1686	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.I550I|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	559						cell surface|integral to membrane	sodium:hydrogen antiporter activity			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)			TGGGGGAGCGGATGAAGGCCA	0.647000													10	27					0	0	0.000978	0	0
HIBADH	11112	broad.mit.edu	37	7	27570860	27570860	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:27570860G>A	ENST00000265395.2	-	7	1009	c.803C>T	c.(802-804)cCc>cTc	p.P268L		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	268					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ATTAGCCGAGGGAACGCCATC	0.448000													111	442					0	0	0.003610	0	0
HECW2	57520	broad.mit.edu	37	2	197183420	197183420	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:197183420C>T	ENST00000260983.2	-	9	2376	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	HECW2_ENST00000409111.1_Missense_Mutation_p.E376K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.E732K(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCCCCAGCTCCTCCTGGTCA	0.652000													15	23					0	0	0.004007	0	0
F8	2157	broad.mit.edu	37	X	154197612	154197612	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:154197612G>T	ENST00000360256.4	-	7	1203	c.1003C>A	c.(1003-1005)Caa>Aaa	p.Q335K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	335	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTACCATGTTGGTGGGAAGAG	0.363000													12	16					0.00136819	0.00155009	0.001368	1	0
DNHD1	144132	broad.mit.edu	37	11	6588975	6588975	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:6588975T>A	ENST00000254579.6	+	36	12800	c.12236T>A	c.(12235-12237)tTt>tAt	p.F4079Y	DNHD1_ENST00000527990.2_Missense_Mutation_p.F4079Y	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4079					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCATGCCCTTTAAACATAGT	0.582000													28	36					0	0	0.006320	0	0
OR2A5	393046	broad.mit.edu	37	7	143748157	143748157	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:143748157C>T	ENST00000408906.2	+	1	697	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACTCGCGCATCCTGGCGGCCA	0.612000													35	122					0	0	0.004289	0	0
FAT4	79633	broad.mit.edu	37	4	126237755	126237755	+	Silent	SNP	C	C	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:126237755C>G	ENST00000394329.3	+	1	202	c.189C>G	c.(187-189)acC>acG	p.T63T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	63	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGTAGGCACCATCCAGACGC	0.632000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	44					0	0	0.008871	0	0
ARIH2OS	646450	broad.mit.edu	37	3	48956274	48956274	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:48956274C>T	ENST00000408959.2	-	1	544	c.309G>A	c.(307-309)ccG>ccA	p.P103P	ARIH2_ENST00000356401.4_5'UTR|ARIH2_ENST00000449376.1_5'UTR|ARIH2_ENST00000490095.1_3'UTR	NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		CAAGCACTTCCGGAGCTGTGG	0.711000													7	5					0	0	0.004482	0	0
TLN2	83660	broad.mit.edu	37	15	63128194	63128194	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:63128194C>T	ENST00000561311.1	+	56	7526	c.7296C>T	c.(7294-7296)gtC>gtT	p.V2432V	TLN2_ENST00000306829.6_Silent_p.V2432V|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2432	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCAAGCAGGTCGCCGCTTCCA	0.627000													11	15					0	0	0.008291	0	0
ZNF823	55552	broad.mit.edu	37	19	11833021	11833021	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:11833021G>A	ENST00000341191.6	-	4	1481	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	ZNF823_ENST00000545749.1_Missense_Mutation_p.P261L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ACATTTATAGGGTTTCACTCC	0.433000										HNSCC(68;0.2)			13	44					0	0	0.001855	0	0
IDUA	3425	broad.mit.edu	37	4	995790	995790	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:995790C>T	ENST00000453894.1	+	5	860	c.772C>T	c.(772-774)Cat>Tat	p.H258Y	IDUA_ENST00000514224.1_Silent_p.S139S|IDUA_ENST00000247933.4_Silent_p.S271S			P35475	IDUA_HUMAN	iduronidase, alpha-L-	202					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	GCTCCATCTCCATCCTGGAGC	0.711000													3	7					0	0	0.004672	0	0
EPN2	22905	broad.mit.edu	37	17	19186624	19186624	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:19186624G>A	ENST00000314728.5	+	3	676	c.192G>A	c.(190-192)ctG>ctA	p.L64L	EPN2_ENST00000571254.1_Silent_p.L64L|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000347697.2_Silent_p.L64L|EPN2_ENST00000395620.2_Silent_p.L64L|EPN2_ENST00000395626.1_Silent_p.L64L|EPN2_ENST00000575595.1_Intron	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	64	ENTH.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGAAGCGGCTGAATGACCATG	0.602000													21	55					0	0	0.003954	0	0
CTNND2	1501	broad.mit.edu	37	5	11199635	11199635	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:11199635T>A	ENST00000304623.8	-	11	2089	c.1900A>T	c.(1900-1902)Aac>Tac	p.N634Y	CTNND2_ENST00000458100.2_Missense_Mutation_p.N201Y|CTNND2_ENST00000503622.1_Missense_Mutation_p.N297Y|CTNND2_ENST00000359640.2_Missense_Mutation_p.N634Y|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.N543Y	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	634					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			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						CCACCACAGTTTTTCAGGGCA	0.488000													26	100					0	0	0.005443	0	0
VAV1	7409	broad.mit.edu	37	19	6854108	6854108	+	Splice_Site	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:6854108G>T	ENST00000304076.2	+	25	2511	c.2418_splice	c.e25+1	p.R806_splice	VAV1_ENST00000599806.1_Splice_Site_p.R773_splice|VAV1_ENST00000596764.1_Splice_Site_p.R796_splice|VAV1_ENST00000539284.1_Splice_Site_p.R731_splice|VAV1_ENST00000602142.1_Splice_Site_p.R828_splice	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	828	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ATCTATGGCCGGGTGAGGCAG	0.627000													19	34					2.35188e-11	2.73302e-11	0.006122	1	0
LRRC49	54839	broad.mit.edu	37	15	71197069	71197069	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:71197069C>T	ENST00000260382.5	+	5	735	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	LRRC49_ENST00000544974.2_Missense_Mutation_p.R149C|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.R164C|LRRC49_ENST00000443425.2_Missense_Mutation_p.R115C	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	159						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GAGATGTCTTCGTGTCCTTCT	0.348000													16	91					0	0	0.004007	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768738	51768738	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:51768738G>A	ENST00000316401.7	+	3	520	c.139G>A	c.(139-141)Ggt>Agt	p.G47S	SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1																		AGTCCCCGTGGGTGTGGATGG	0.572000													23	42					0	0	0.004656	0	0
SI	6476	broad.mit.edu	37	3	164758861	164758861	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:164758861C>A	ENST00000264382.3	-	18	2088	c.2026G>T	c.(2026-2028)Ggg>Tgg	p.G676W		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	676	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAATTCTGCCCAAAAAATGCA	0.333000										HNSCC(35;0.089)			22	38					5.61819e-17	6.66027e-17	0.005443	1	0
FUT9	10690	broad.mit.edu	37	6	96651671	96651671	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:96651671G>A	ENST00000302103.5	+	3	966	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	214					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CAAAAGCATTGAAATCCATAC	0.373000													19	4					0	0	0.007413	0	0
GRM3	2913	broad.mit.edu	37	7	86493639	86493639	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:86493639G>A	ENST00000361669.2	+	6	3707	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	GRM3_ENST00000536043.1_Missense_Mutation_p.E742K|GRM3_ENST00000394720.2_Missense_Mutation_p.G512E|GRM3_ENST00000439827.1_Missense_Mutation_p.G514E|GRM3_ENST00000546348.1_Missense_Mutation_p.E462K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	870					synaptic transmission	integral to plasma membrane		p.E870K(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)	CAATGGGCGGGAAGTCCTCGA	0.468000													33	93					0	0	0.006230	0	0
DENND2C	163259	broad.mit.edu	37	1	115143503	115143503	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:115143503G>A	ENST00000393274.1	-	14	2519	c.1894C>T	c.(1894-1896)Cct>Tct	p.P632S	DENND2C_ENST00000393276.3_Missense_Mutation_p.P575S|DENND2C_ENST00000393277.1_Missense_Mutation_p.P632S|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	632	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		GCTGGGAAAGGAGCTTCCATG	0.433000													30	43					0	0	0.008361	0	0
ELN	2006	broad.mit.edu	37	7	73467555	73467555	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:73467555G>A	ENST00000252034.7	+	18	1411	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R	ELN_ENST00000466878.1_3'UTR|ELN_ENST00000429192.1_Missense_Mutation_p.G343R|ELN_ENST00000414324.1_Missense_Mutation_p.G333R|ELN_ENST00000380576.5_Missense_Mutation_p.G338R|ELN_ENST00000445912.1_Missense_Mutation_p.G338R|ELN_ENST00000358929.4_Missense_Mutation_p.G338R|ELN_ENST00000380584.4_Missense_Mutation_p.G324R|ELN_ENST00000380575.4_Missense_Mutation_p.G328R|ELN_ENST00000380562.4_Missense_Mutation_p.G338R|ELN_ENST00000320399.6_Missense_Mutation_p.G338R|ELN_ENST00000320492.7_Missense_Mutation_p.G302R|ELN_ENST00000458204.1_Missense_Mutation_p.G328R|ELN_ENST00000380553.4_Missense_Mutation_p.G221R|ELN_ENST00000357036.5_Missense_Mutation_p.G343R	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	338	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGTGTCCCAGGAGCTGGCGT	0.602000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						10	60					0	0	0.008291	0	0
POTEA	340441	broad.mit.edu	37	8	43173699	43173699	+	RNA	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:43173699C>T	ENST00000522175.2	+	0	985							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGATTAGTTCCACAAAGAAAG	0.403000													37	22					0	0	0.003271	0	0
FERMT1	55612	broad.mit.edu	37	20	6100139	6100139	+	Silent	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:6100139G>T	ENST00000217289.4	-	2	851	c.63C>A	c.(61-63)ccC>ccA	p.P21P	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	21					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTCTTCATTGGGATGGTCAA	0.468000													11	18					2.80697e-09	3.24263e-09	0.000978	1	0
IGDCC3	9543	broad.mit.edu	37	15	65621406	65621406	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:65621406C>T	ENST00000327987.4	-	14	2537	c.2286G>A	c.(2284-2286)ggG>ggA	p.G762G		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	762										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCGTCGTCTTCCCCTCCATCA	0.697000													10	12					0	0	0.000978	0	0
SLC25A35	399512	broad.mit.edu	37	17	8194179	8194179	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:8194179G>A	ENST00000380067.2	-	4	754	c.710C>T	c.(709-711)cCc>cTc	p.P237L	SLC25A35_ENST00000579192.1_Missense_Mutation_p.P237L|SLC25A35_ENST00000396278.1_Missense_Mutation_p.P237L|SLC25A35_ENST00000580340.1_Missense_Mutation_p.P237L|SLC25A35_ENST00000577745.1_Missense_Mutation_p.P237L	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	237					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						TGCATCTGTGGGCTGGTTGTA	0.582000													27	66					0	0	0.007291	0	0
MYO3A	53904	broad.mit.edu	37	10	26305800	26305800	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:26305800G>A	ENST00000265944.5	+	7	726	c.560G>A	c.(559-561)gGa>gAa	p.G187E	MYO3A_ENST00000376302.1_Missense_Mutation_p.G187E|MYO3A_ENST00000543632.1_Missense_Mutation_p.G187E|MYO3A_ENST00000376301.1_Missense_Mutation_p.G187E	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	187	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACATCCGTAGGAACACCGTTT	0.433000													15	23					0	0	0.004990	0	0
MROH2B	133558	broad.mit.edu	37	5	40998261	40998261	+	Splice_Site	SNP	C	C	A	rs111906143	by1000genomes	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:40998261C>A	ENST00000399564.4	-	42	5102		c.e42-1		MROH2B_ENST00000506092.2_Splice_Site	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCTTGGAGTCCTGAAATGGCA	0.498000													40	124					1.67305e-13	1.96358e-13	0.006230	1	0
CWH43	80157	broad.mit.edu	37	4	49046862	49046862	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:49046862C>T	ENST00000226432.4	+	14	2046	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	CWH43_ENST00000513409.1_Silent_p.I594I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	621	Required for function in lipid remodeling (By similarity).				GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGGGCTGATCAGGTGAGCAC	0.353000													23	38					0	0	0.003954	0	0
RRBP1	6238	broad.mit.edu	37	20	17601382	17601382	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:17601382G>A	ENST00000377813.1	-	17	3788	c.3485C>T	c.(3484-3486)gCc>gTc	p.A1162V	RRBP1_ENST00000246043.4_Missense_Mutation_p.A1162V|RRBP1_ENST00000377807.2_Missense_Mutation_p.A729V|RRBP1_ENST00000360807.4_Missense_Mutation_p.A729V|RRBP1_ENST00000455029.2_Missense_Mutation_p.A503V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1162					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CTCCTCTGCGGCGCCCACCTT	0.652000													13	18					0	0	0.002450	0	0
ABCC9	10060	broad.mit.edu	37	12	22069901	22069901	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:22069901C>T	ENST00000261200.4	-	4	542	c.543G>A	c.(541-543)atG>atA	p.M181I	ABCC9_ENST00000345162.2_Missense_Mutation_p.M181I|ABCC9_ENST00000261201.4_Missense_Mutation_p.M181I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	181					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTCCACAGCCATCAAGAGCC	0.408000													38	122					0	0	0.006999	0	0
SLC4A4	8671	broad.mit.edu	37	4	72215630	72215630	+	Splice_Site	SNP	T	T	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:72215630T>G	ENST00000340595.3	+	2	455	c.257_splice	c.e2-1	p.W87_splice	SLC4A4_ENST00000264485.5_Splice_Site_p.W131_splice|SLC4A4_ENST00000425175.1_Splice_Site_p.W131_splice|SLC4A4_ENST00000351898.6_Splice_Site_p.W131_splice|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Splice_Site_p.W87_splice	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	131						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TCTTCCTAGGTGGATCAAGTT	0.453000													13	32					0	0	0.003163	0	0
KATNAL2	83473	broad.mit.edu	37	18	44625669	44625669	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:44625669C>T	ENST00000245121.5	+	13	1245	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S	KATNAL2_ENST00000356157.7_Missense_Mutation_p.P423S	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	423						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GGTCGATCTCCCCAGCCGGGA	0.592000													14	46					0	0	0.002450	0	0
SERPINA3	12	broad.mit.edu	37	14	95081101	95081101	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:95081101C>T	ENST00000553947.1	+	5	1286	c.398C>T	c.(397-399)aCg>aTg	p.T133M	SERPINA3_ENST00000393080.4_Missense_Mutation_p.T108M|SERPINA3_ENST00000393078.3_Missense_Mutation_p.T108M|SERPINA3_ENST00000467132.1_Missense_Mutation_p.T108M|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	108					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.T108M(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCAACCTCACGGAGACTTCT	0.552000													20	21					0	0	0.001523	0	0
OR2C3	81472	broad.mit.edu	37	1	247694992	247694992	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:247694992G>A	ENST00000366487.3	-	2	1183	c.822C>T	c.(820-822)ttC>ttT	p.F274F	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ACAGAGCTATGAACTTGCCCT	0.537000													20	48					0	0	0.001523	0	0
SLC37A3	84255	broad.mit.edu	37	7	140045771	140045771	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:140045771C>T	ENST00000326232.9	-	11	1228		c.e11-1		SLC37A3_ENST00000340308.3_Intron|SLC37A3_ENST00000429996.2_Splice_Site|SLC37A3_ENST00000447932.2_Splice_Site	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3						carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					AAAGTTCCACCTTCAAGCAGA	0.517000													14	26					0	0	0.002450	0	0
RRP1	8568	broad.mit.edu	37	21	45211307	45211307	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:45211307C>T	ENST00000497547.1	+	2	327	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	70					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ACAAGCCACTCCTCCAGGTGA	0.522000													25	3					0	0	0.007291	0	0
ATP10D	57205	broad.mit.edu	37	4	47559837	47559837	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:47559837C>T	ENST00000273859.3	+	12	2250	c.1981C>T	c.(1981-1983)Cct>Tct	p.P661S	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	661					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAGCAGACTCCCTCTCTTTAG	0.517000													16	58					0	0	0.004007	0	0
TPTE	7179	broad.mit.edu	37	21	10916378	10916378	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:10916378G>A	ENST00000298232.7	-	19	1581	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	TPTE_ENST00000361285.4_Missense_Mutation_p.S423L|TPTE_ENST00000342420.5_Missense_Mutation_p.S385L|TPTE_ENST00000415664.2_Intron	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	423					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S405L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ACGAGGAATCGAATAAATAAT	0.388000													13	46					0	0	0.001855	0	0
GTF3C1	2975	broad.mit.edu	37	16	27519956	27519956	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:27519956C>T	ENST00000356183.4	-	8	1162	c.1147G>A	c.(1147-1149)Gga>Aga	p.G383R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G383R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	383						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGGGAAATTCCTTTCGTGCCT	0.458000													10	18					0	0	0.000978	0	0
SNTG1	54212	broad.mit.edu	37	8	51442761	51442761	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:51442761G>A	ENST00000522124.1	+	10	1152	c.491G>A	c.(490-492)gGc>gAc	p.G164D	SNTG1_ENST00000517473.1_Missense_Mutation_p.G164D|SNTG1_ENST00000518864.1_Missense_Mutation_p.G164D|SNTG1_ENST00000276467.5_Missense_Mutation_p.G164D	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	164					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGAGCAGTGGCACCTCCTCT	0.448000													13	43					0	0	0.001855	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749490	139749490	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:139749490G>A	ENST00000445819.1	+	10	1175	c.1125G>A	c.(1123-1125)cgG>cgA	p.R375R	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.R375R			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	375	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCCTGCTGCGGAGGCGCCGAG	0.682000													5	3					0	0	0.000602	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73973268	73973268	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:73973268G>A	ENST00000476977.1	+	21	3876	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E729K|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E744K|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E761K			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	744						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E744K(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGTGATCATCGAGGGGCTGCC	0.597000													13	53					0	0	0.001855	0	0
PCDH20	64881	broad.mit.edu	37	13	61985654	61985654	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:61985654C>T	ENST00000409186.1	-	5	4683	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	PCDH20_ENST00000409204.4_Missense_Mutation_p.E860K			Q8N6Y1	PCD20_HUMAN	protocadherin 20	833					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATCTCTGGTTCTTTTCTTAAA	0.408000													8	22					0	0	0.003080	0	0
AOC2	314	broad.mit.edu	37	17	40997941	40997941	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:40997941C>T	ENST00000253799.3	+	1	1325	c.1298C>T	c.(1297-1299)cCc>cTc	p.P433L	AOC2_ENST00000452774.2_Missense_Mutation_p.P433L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	433					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CAGGGACTGCCCCTTCGAAGG	0.517000													15	33					0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13830726	13830726	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:13830726C>T	ENST00000265104.4	-	36	6145	c.6041G>A	c.(6040-6042)gGa>gAa	p.G2014E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2014	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCGTCCAAGTCCTCGGAAATC	0.413000									Kartagener syndrome				11	51					0	0	0.002450	0	0
DPRX	503834	broad.mit.edu	37	19	54135382	54135382	+	Missense_Mutation	SNP	C	C	T	rs148896232	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:54135382C>T	ENST00000376650.1	+	1	73	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AGAGGATCTTCGTAAAGGTAA	0.507000													22	104					0	0	0.002780	0	0
MECOM	2122	broad.mit.edu	37	3	168833184	168833184	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:168833184C>T	ENST00000464456.1	-	7	3112	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	MECOM_ENST00000392736.3_Missense_Mutation_p.D638N|MECOM_ENST00000468789.1_Missense_Mutation_p.D638N|MECOM_ENST00000264674.3_Missense_Mutation_p.D703N|MECOM_ENST00000460814.1_Missense_Mutation_p.D638N|MECOM_ENST00000433243.2_Missense_Mutation_p.D639N|MECOM_ENST00000494292.1_Missense_Mutation_p.D826N|MECOM_ENST00000472280.1_Missense_Mutation_p.D639N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TAAATAGGGTCCATAAAGAAA	0.423000													11	15					0	0	0.008291	0	0
CROCC	9696	broad.mit.edu	37	1	17274870	17274870	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:17274870C>T	ENST00000375541.5	+	18	2628	c.2559C>T	c.(2557-2559)gcC>gcT	p.A853A	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	853					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGGAGCAGGCCCGGCGGGAGG	0.711000													4	11					0	0	0.001168	0	0
LINC00842	643650	broad.mit.edu	37	10	47133659	47133659	+	RNA	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:47133659C>T	ENST00000422732.2	-	0	435					NR_033957.1																						agttgtcattcccactgaaac	0.517000													7	130					0	0	0.004482	0	0
RYR2	6262	broad.mit.edu	37	1	237948243	237948243	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:237948243C>T	ENST00000366574.2	+	90	13548	c.13231C>T	c.(13231-13233)Ccc>Tcc	p.P4411S	RYR2_ENST00000360064.6_Missense_Mutation_p.P4417S|RYR2_ENST00000542537.1_Missense_Mutation_p.P4395S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4411					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACCCAGTCCCCATGCCTGA	0.453000													4	6					0	0	0.000248	0	0
CENPJ	55835	broad.mit.edu	37	13	25487116	25487116	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:25487116G>A	ENST00000381884.4	-	2	233	c.48C>T	c.(46-48)ttC>ttT	p.F16F	CENPJ_ENST00000545981.1_Silent_p.F16F	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	16					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ACTGGGTTAGGAAGTTCTGCC	0.433000													17	31					0	0	0.004007	0	0
ANO7	50636	broad.mit.edu	37	2	242135234	242135234	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:242135234C>T	ENST00000274979.8	+	4	548	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	ANO7_ENST00000402430.3_Missense_Mutation_p.R148C|ANO7_ENST00000402530.3_Missense_Mutation_p.R148C	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	149						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GGATAATCTTCGTGCGGCTGG	0.607000													36	6					0	0	0.006999	0	0
CUL5	8065	broad.mit.edu	37	11	107965645	107965645	+	Silent	SNP	A	A	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:107965645A>T	ENST00000393094.2	+	15	2290	c.1674A>T	c.(1672-1674)gtA>gtT	p.V558V		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	558					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TACCGGAAGTAGAAGAATTCT	0.358000													12	10					0	0	0.000978	0	0
ULK2	9706	broad.mit.edu	37	17	19744854	19744854	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:19744854T>C	ENST00000395544.4	-	9	1151	c.652A>G	c.(652-654)Agt>Ggt	p.S218G	ULK2_ENST00000361658.2_Missense_Mutation_p.S218G	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	218	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TCTTGAGGACTATTGGCCTAT	0.308000													8	23					0	0	0.003080	0	0
DSC3	1825	broad.mit.edu	37	18	28588455	28588455	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:28588455C>T	ENST00000434452.1	-	10	1454	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	DSC3_ENST00000360428.4_Missense_Mutation_p.E434K	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	434	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACTCCAATTTCCAGGTTCACT	0.398000													12	31					0	0	0.001368	0	0
TENM2	57451	broad.mit.edu	37	5	167420093	167420093	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:167420093G>A	ENST00000519204.1	+	4	847	c.729G>A	c.(727-729)ctG>ctA	p.L243L	TENM2_ENST00000545108.1_Silent_p.L364L|TENM2_ENST00000520394.1_Silent_p.L173L|TENM2_ENST00000518659.1_Silent_p.L364L|TENM2_ENST00000403607.2_Silent_p.L197L					teneurin transmembrane protein 2																		CTTTCAAGCTGAAGAAGCCCT	0.567000													21	34					0	0	0.001882	0	0
H2AFX	3014	broad.mit.edu	37	11	118965764	118965764	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:118965764G>A	ENST00000530167.1	-	1	413	c.341C>T	c.(340-342)gCc>gTc	p.A114V		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	114					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CAGCAGCACGGCCTGGATGTT	0.701000								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	32					0	0	0.004656	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692964	26692964	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:26692964C>T	ENST00000529632.2	+	4	1276	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	SEZ6L_ENST00000402979.1_Silent_p.I133I|SEZ6L_ENST00000403121.1_Silent_p.I133I|SEZ6L_ENST00000360929.3_Silent_p.I360I|SEZ6L_ENST00000343706.4_Silent_p.I360I|SEZ6L_ENST00000404234.3_Silent_p.I360I|SEZ6L_ENST00000248933.6_Silent_p.I360I	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	360	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCAGGTAATCCGAAGCCCCA	0.632000													8	17					0	0	0.003080	0	0
ZNF443	10224	broad.mit.edu	37	19	12541138	12541138	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:12541138A>C	ENST00000301547.5	-	4	2045	c.1848T>G	c.(1846-1848)taT>taG	p.Y616*	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	616					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CCTTACATTCATACGGGTTCT	0.403000													16	61					0	0	0.001523	0	0
FAM179A	165186	broad.mit.edu	37	2	29240153	29240153	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:29240153G>A	ENST00000379558.4	+	9	1529	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Missense_Mutation_p.R393K	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	393							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCTCCCAGAGAGCCTTCATG	0.587000													25	2					0	0	0.002780	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902798	4902798	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:4902798C>T	ENST00000381781.2	-	1	81	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	28					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TAGATTCTATCCTCGGGCAGC	0.552000													26	82					0	0	0.003330	0	0
CCBE1	147372	broad.mit.edu	37	18	57106963	57106963	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:57106963G>A	ENST00000439986.4	-	8	898	c.861C>T	c.(859-861)ccC>ccT	p.P287P	CCBE1_ENST00000398179.2_Intron	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	287	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				ATGGTCCCATGGGTCCCATTG	0.582000													20	70					0	0	0.007413	0	0
CTNNB1	1499	broad.mit.edu	37	3	41275119	41275119	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:41275119T>G	ENST00000349496.5	+	9	1565	c.1285T>G	c.(1285-1287)Tgc>Ggc	p.C429G	CTNNB1_ENST00000396185.3_Missense_Mutation_p.C429G|CTNNB1_ENST00000405570.1_Missense_Mutation_p.C429G|CTNNB1_ENST00000453024.1_Missense_Mutation_p.C422G|CTNNB1_ENST00000396183.3_Missense_Mutation_p.C429G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	429					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TAACCTCACTTGCAATAATTA	0.473000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				34	39					0	0	0.002836	0	0
LAMC2	3918	broad.mit.edu	37	1	183192282	183192282	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:183192282G>A	ENST00000264144.4	+	7	841	c.776G>A	c.(775-777)gGg>gAg	p.G259E	LAMC2_ENST00000493293.1_Missense_Mutation_p.G259E	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	259	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.G259V(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						AAATTTCTTGGGAATCAACAG	0.463000													9	23					0	0	0.006214	0	0
GABRA6	2559	broad.mit.edu	37	5	161117306	161117306	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:161117306C>T	ENST00000523217.1	+	7	985	c.743C>T	c.(742-744)tCc>tTc	p.S248F	GABRA6_ENST00000274545.5_Missense_Mutation_p.S258F	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	258					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCATTCTTTCCCAGGTGTCT	0.398000										TCGA Ovarian(5;0.080)			18	53					0	0	0.007413	0	0
MPP1	4354	broad.mit.edu	37	X	154014501	154014501	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:154014501G>A	ENST00000413259.3	-	7	957	c.565C>T	c.(565-567)Cct>Tct	p.P189S	MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000369534.3_Missense_Mutation_p.P219S|MPP1_ENST00000393531.1_Missense_Mutation_p.P199S	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	219	SH3.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAGGGGAAGGGATCAATCCT	0.493000													95	12					0	0	0.003610	0	0
OR8H2	390151	broad.mit.edu	37	11	55872986	55872986	+	Silent	SNP	C	C	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:55872986C>A	ENST00000313503.1	+	1	468	c.468C>A	c.(466-468)tcC>tcA	p.S156S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTATAGACTCCTTTGTCAACG	0.443000										HNSCC(53;0.14)			36	48					6.84511e-11	7.93871e-11	0.003271	1	0
TMC3	342125	broad.mit.edu	37	15	81636306	81636306	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:81636306G>A	ENST00000558726.1	-	14	1737	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.F533F			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	533						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGTACCGCACGAAAAGTCCTC	0.473000													4	27					0	0	0.000248	0	0
NONO	4841	broad.mit.edu	37	X	70511790	70511790	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:70511790C>T	ENST00000535149.1	+	2	692	c.49C>T	c.(49-51)Cat>Tat	p.H17Y	NONO_ENST00000373841.1_Missense_Mutation_p.H106Y|NONO_ENST00000373856.3_Missense_Mutation_p.H106Y|NONO_ENST00000276079.8_Missense_Mutation_p.H106Y	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	106					DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGTCTTCATTCATAAGGATAA	0.438000			T	TFE3	papillary renal cancer								33	0					0	0	0.004878	0	0
NLRP9	338321	broad.mit.edu	37	19	56241295	56241295	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:56241295G>A	ENST00000332836.2	-	3	1923	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	632						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTAAAATCTGGAAGTTCTTGT	0.443000													20	71					0	0	0.008871	0	0
DZIP1	22873	broad.mit.edu	37	13	96238340	96238340	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:96238340G>A	ENST00000347108.3	-	19	2701	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	DZIP1_ENST00000361156.3_Missense_Mutation_p.R738C|DZIP1_ENST00000361396.2_Missense_Mutation_p.R738C|DZIP1_ENST00000376829.2_Missense_Mutation_p.R757C			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	757					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ACATTTTTGCGATGTGGAAAC	0.318000													12	20					0	0	0.000978	0	0
KMT2D	8085	broad.mit.edu	37	12	49444873	49444873	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:49444873C>T	ENST00000301067.7	-	10	2592	c.2593G>A	c.(2593-2595)Gaa>Aaa	p.E865K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGGGCTTTTCAGGCCGAGGG	0.642000													23	58					0	0	0.004656	0	0
CCDC11	220136	broad.mit.edu	37	18	47787456	47787456	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:47787456C>T	ENST00000398545.4	-	3	568	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	151										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTAGCTTTTCAGCCACAAAA	0.313000													27	105					0	0	0.002096	0	0
BMPR2	659	broad.mit.edu	37	2	203383621	203383621	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:203383621C>T	ENST00000374580.4	+	6	1237	c.698C>T	c.(697-699)tCc>tTc	p.S233F	BMPR2_ENST00000374574.2_Missense_Mutation_p.S233F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	233	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AAAGTGTTTTCCTTTGCAAAC	0.413000													42	2					0	0	0.008740	0	0
GDF6	392255	broad.mit.edu	37	8	97157741	97157741	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:97157741G>A	ENST00000287020.5	-	2	517	c.418C>T	c.(418-420)Cac>Tac	p.H140Y		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	140					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					AGAGGAGTGTGCGAGAGATCG	0.562000													8	30					0	0	0.004482	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131088	38131088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:38131088G>A	ENST00000406386.3	+	9	5000	c.4745G>A	c.(4744-4746)tGg>tAg	p.W1582*	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1582					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCTGGACTGGGAGGGCCTC	0.687000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	39					0	0	0.008291	0	0
BICD1	636	broad.mit.edu	37	12	32481425	32481425	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:32481425C>T	ENST00000548411.1	+	5	2217	c.2036C>T	c.(2035-2037)tCc>tTc	p.S679F	BICD1_ENST00000281474.5_Missense_Mutation_p.S679F	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	679	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAGCTAAAGTCCCTGCTGAGC	0.507000													18	35					0	0	0.004990	0	0
ZNF256	10172	broad.mit.edu	37	19	58452441	58452441	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:58452441C>T	ENST00000282308.3	-	3	1931	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	579					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TTTCCACATTCACTGCATTCA	0.438000													13	54					0	0	0.004007	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704610	29704610	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:29704610C>T	ENST00000471961.1	+	1	1563	c.515C>T	c.(514-516)cCc>cTc	p.P172L	GAS2L1_ENST00000341313.6_Missense_Mutation_p.P172L|GAS2L1_ENST00000407854.1_Missense_Mutation_p.P172L|GAS2L1_ENST00000403764.1_Missense_Mutation_p.P172L|GAS2L1_ENST00000407647.2_Missense_Mutation_p.P172L|GAS2L1_ENST00000360113.2_Missense_Mutation_p.P172L|GAS2L1_ENST00000406549.3_Missense_Mutation_p.P172L			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	172					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CGTGCTGCACCCCCAGCCCCC	0.731000													4	9					0	0	0.000248	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10918788	10918788	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:10918788G>T	ENST00000381661.3	+	11	1025	c.916G>T	c.(916-918)Gtg>Ttg	p.V306L	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.V352L	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	352					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TGTGGAGTCCGTGCTCAGGTG	0.622000													9	28					2.74318e-10	3.17518e-10	0.006214	1	0
GPR133	283383	broad.mit.edu	37	12	131487840	131487840	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:131487840C>T	ENST00000261654.5	+	10	1696	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	GPR133_ENST00000535015.1_Silent_p.A411A|GPR133_ENST00000376682.4_Silent_p.A65A	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	379					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTCCTCTGCCATGGCAGGTA	0.597000													22	42					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9057771	9057771	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9057771G>T	ENST00000397910.4	-	3	29878	c.29675C>A	c.(29674-29676)aCa>aAa	p.T9892K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9894	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTGTTTCTGTGATTGAGGT	0.473000													32	106					2.85442e-18	3.3907e-18	0.002096	1	0
ZFP3	124961	broad.mit.edu	37	17	4995561	4995561	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:4995561A>T	ENST00000318833.3	+	2	1098	c.762A>T	c.(760-762)gaA>gaT	p.E254D		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AACCATATGAATGTAATGAAT	0.393000													10	39					0	0	0.001368	0	0
CDCP1	64866	broad.mit.edu	37	3	45127559	45127559	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:45127559C>T	ENST00000296129.1	-	9	2216	c.2081_splice	c.e9-1	p.K694_splice		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	694						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTTCTTTTTCCTATTTGGAA	0.448000													24	47					0	0	0.002780	0	0
MAMDC4	158056	broad.mit.edu	37	9	139749489	139749489	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:139749489G>A	ENST00000445819.1	+	10	1174	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.R375Q			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	375	MAM 2.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		gTCCTGCTGCGGAGGCGCCGA	0.682000													5	3					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9089699	9089699	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9089699G>A	ENST00000397910.4	-	1	2319	c.2116C>T	c.(2116-2118)Ccc>Tcc	p.P706S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	706	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGAAGGGATGTCTAGTG	0.478000													32	47					0	0	0.002096	0	0
KCNH7	90134	broad.mit.edu	37	2	163302619	163302619	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:163302619A>C	ENST00000332142.5	-	7	1562	c.1463T>G	c.(1462-1464)aTa>aGa	p.I488R	KCNH7_ENST00000328032.4_Missense_Mutation_p.I481R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	488					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTGTATTGCTATTTTGGCGGG	0.353000													9	22					0	0	0.008291	0	0
MRPS18A	55168	broad.mit.edu	37	6	43639608	43639608	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:43639608G>A	ENST00000372133.3	-	6	493	c.482C>T	c.(481-483)cCc>cTc	p.P161L	RSPH9_ENST00000372165.4_3'UTR|MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372163.4_3'UTR	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	161					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			TTTGTAGATGGGCTTGACGGA	0.617000													10	16					0	0	0.006214	0	0
FOXN1	8456	broad.mit.edu	37	17	26851891	26851891	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:26851891T>G	ENST00000226247.2	+	2	523	c.494T>G	c.(493-495)gTg>gGg	p.V165G	FOXN1_ENST00000579795.1_Missense_Mutation_p.V165G	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	165					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCAGTGGACGTGGCGGAGGCC	0.657000													5	35					0	0	0.001168	0	0
POLR2B	5431	broad.mit.edu	37	4	57881716	57881716	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:57881716G>A	ENST00000381227.1	+	15	2262	c.1849G>A	c.(1849-1851)Gat>Aat	p.D617N	POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Missense_Mutation_p.D617N|POLR2B_ENST00000441246.2_Missense_Mutation_p.D610N|POLR2B_ENST00000431623.2_Missense_Mutation_p.D542N			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	617					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GATCTATACGGATGCAGGCCG	0.333000													26	56					0	0	0.007291	0	0
NRSN1	140767	broad.mit.edu	37	6	24145856	24145856	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:24145856C>T	ENST00000378491.4	+	4	571	c.270C>T	c.(268-270)atC>atT	p.I90I		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	90					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCCAAAATCGAAGCATTTG	0.488000													21	53					0	0	0.001882	0	0
SPOCK1	6695	broad.mit.edu	37	5	136314410	136314410	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:136314410C>T	ENST00000394945.1	-	11	1422	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	SPOCK1_ENST00000282223.7_Missense_Mutation_p.R418Q	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	418					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCACGGCTCGGGTGTGCAC	0.527000													38	75					0	0	0.002522	0	0
LMX1A	4009	broad.mit.edu	37	1	165218838	165218838	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:165218838G>A	ENST00000342310.3	-	4	685	c.303C>T	c.(301-303)atC>atT	p.I101I	LMX1A_ENST00000294816.2_Silent_p.I101I|LMX1A_ENST00000367893.4_Silent_p.I101I	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	101	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CATTGGGAGCGATGGCCTCGA	0.537000													7	14					0	0	0.006214	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140792874	140792874	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:140792874G>A	ENST00000398610.2	+	1	132	c.132G>A	c.(130-132)gaG>gaA	p.E44E	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAATTAGAGAAAGGCTCTT	0.597000											OREG0016862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	47					0	0	0.005443	0	0
KALRN	8997	broad.mit.edu	37	3	124237289	124237289	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:124237289C>T	ENST00000240874.3	+	34	5129	c.4972C>T	c.(4972-4974)Cct>Tct	p.P1658S	KALRN_ENST00000393496.1_Intron|KALRN_ENST00000360013.3_Intron|KALRN_ENST00000460856.1_Missense_Mutation_p.P1649S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	0	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACCTGGAGATCCTTTCTCCAC	0.547000													24	26					0	0	0.007291	0	0
OR1M1	125963	broad.mit.edu	37	19	9204006	9204006	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9204006C>T	ENST00000429566.3	+	1	152	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTTCTCTTTTCCCTGTTCTTC	0.517000													24	33					0	0	0.002780	0	0
DDR1	780	broad.mit.edu	37	6	30864588	30864588	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:30864588C>T	ENST00000324771.8	+	15	2363	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	DDR1_ENST00000508312.1_Silent_p.F586F|DDR1_ENST00000452441.1_Silent_p.F605F|DDR1_ENST00000376567.2_Silent_p.F568F|DDR1_ENST00000418800.2_Silent_p.F568F|DDR1_ENST00000513240.1_Silent_p.F605F|DDR1_ENST00000361741.4_Silent_p.F272F|DDR1_ENST00000376569.3_Silent_p.F568F|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.F568F|DDR1_ENST00000376575.3_Silent_p.F605F|DDR1_ENST00000376568.3_Silent_p.F605F|DDR1_ENST00000454612.2_Silent_p.F568F			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	605					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAGTGGATTTCCCTCGATCTC	0.622000													26	41					0	0	0.003954	0	0
ITGAX	3687	broad.mit.edu	37	16	31372416	31372416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:31372416G>A	ENST00000268296.4	+	9	1015	c.894G>A	c.(892-894)tgG>tgA	p.W298*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.W298*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	298	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			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						GAAATTCTTGGAAAGAATTAA	0.383000													29	32					0	0	0.001786	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884239	228884239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:228884239C>T	ENST00000392056.3	-	7	1377	c.1331G>A	c.(1330-1332)tGg>tAg	p.W444*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.W444*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	444						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGCTCATTCCATGACCGAGA	0.507000													22	67					0	0	0.002780	0	0
BTAF1	9044	broad.mit.edu	37	10	93773779	93773779	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:93773779C>T	ENST00000265990.6	+	32	4885	c.4577C>T	c.(4576-4578)cCt>cTt	p.P1526L	BTAF1_ENST00000544642.1_Missense_Mutation_p.P354L	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1526					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTCTTAGTCCTCTCCAGGTT	0.368000													67	8					0	0	0.003610	0	0
EDN1	1906	broad.mit.edu	37	6	12294286	12294286	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:12294286G>A	ENST00000379375.5	+	3	613	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	116	Endothelin-like.				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TAGCCAAAAAGACAAGAAGTG	0.448000													8	20					0	0	0.006214	0	0
DGKI	9162	broad.mit.edu	37	7	137282621	137282621	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:137282621C>T	ENST00000453654.1	-	12	922	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	DGKI_ENST00000446122.1_Missense_Mutation_p.R428Q|DGKI_ENST00000424189.2_Missense_Mutation_p.R428Q|DGKI_ENST00000288490.5_Missense_Mutation_p.R428Q			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	428					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			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						GGCCAGAATTCGCAGATTTGG	0.413000													5	28					0	0	0.003080	0	0
TIMELESS	8914	broad.mit.edu	37	12	56826824	56826824	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:56826824G>A	ENST00000229201.4	-	6	671	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	TIMELESS_ENST00000554616.1_Missense_Mutation_p.L173F|TIMELESS_ENST00000553532.1_Missense_Mutation_p.L173F	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	173					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCCTGATCAAGGTCAGCTGGG	0.468000													13	33					0	0	0.001368	0	0
CCDC157	550631	broad.mit.edu	37	22	30766769	30766769	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:30766769C>T	ENST00000405659.1	+	5	1584	c.875C>T	c.(874-876)gCc>gTc	p.A292V	CCDC157_ENST00000338306.3_Missense_Mutation_p.A292V			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	292										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CATGTGGAGGCCCTCAGGGCC	0.677000													11	20					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9086149	9086149	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9086149C>T	ENST00000397910.4	-	1	5869	c.5666G>A	c.(5665-5667)gGa>gAa	p.G1889E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1889	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGCTGTTTCCCATAGACAG	0.502000													17	43					0	0	0.004990	0	0
MORC1	27136	broad.mit.edu	37	3	108682411	108682411	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:108682411C>T	ENST00000232603.5	-	27	2731	c.2649G>A	c.(2647-2649)agG>agA	p.R883R	MORC1_ENST00000483760.1_Silent_p.R862R	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	883					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACTGCAATTTCCTCTTTATTT	0.294000													12	14					0	0	0.001855	0	0
RNGTT	8732	broad.mit.edu	37	6	89614448	89614448	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:89614448C>T	ENST00000369485.4	-	6	856	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	RNGTT_ENST00000265607.6_Missense_Mutation_p.E224K|RNGTT_ENST00000538899.1_Missense_Mutation_p.E164K|RNGTT_ENST00000369475.3_Missense_Mutation_p.E224K	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	224					interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTTAACCGTTCTTTTCTCCTT	0.343000													22	4					0	0	0.005443	0	0
ZNF667	63934	broad.mit.edu	37	19	56954002	56954002	+	Missense_Mutation	SNP	C	C	T	rs149168669		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:56954002C>T	ENST00000504904.3	-	7	1081	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.R121Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R249Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCCACTCTTTCGTGTAGGAGC	0.388000													46	140					0	0	0.003214	0	0
ABCA13	154664	broad.mit.edu	37	7	48547537	48547537	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:48547537C>T	ENST00000435803.1	+	50	13440	c.13416C>T	c.(13414-13416)tcC>tcT	p.S4472S	ABCA13_ENST00000544596.1_Silent_p.S202S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4472					transport	integral to membrane	ATP binding|ATPase activity			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						TGTCTGCATCCATCGGCAGCT	0.562000													8	20					0	0	0.003080	0	0
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D														p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358000													3	50					0	0	0.000248	0	0
GRIA2	2891	broad.mit.edu	37	4	158142819	158142819	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:158142819G>A	ENST00000296526.7	+	2	414	c.88_splice	c.e2-1	p.G30_splice	GRIA2_ENST00000507898.1_5'UTR|GRIA2_ENST00000393815.2_5'UTR|GRIA2_ENST00000264426.9_Splice_Site_p.G30_splice|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000449365.1_5'UTR	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	30					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			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)	TTCTTTGCAGGGGGGCTATTT	0.532000													22	52					0	0	0.002780	0	0
CCDC129	223075	broad.mit.edu	37	7	31692417	31692417	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:31692417G>A	ENST00000319386.3	+	14	3658	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	CCDC129_ENST00000409210.1_Missense_Mutation_p.E945K|CCDC129_ENST00000451887.2_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.E1037K			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1037										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCTGTTGGAGAAAAGGATGC	0.433000													23	77					0	0	0.003954	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704611	29704611	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:29704611C>T	ENST00000471961.1	+	1	1564	c.516C>T	c.(514-516)ccC>ccT	p.P172P	GAS2L1_ENST00000341313.6_Silent_p.P172P|GAS2L1_ENST00000407854.1_Silent_p.P172P|GAS2L1_ENST00000403764.1_Silent_p.P172P|GAS2L1_ENST00000407647.2_Silent_p.P172P|GAS2L1_ENST00000360113.2_Silent_p.P172P|GAS2L1_ENST00000406549.3_Silent_p.P172P			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	172					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GTGCTGCACCCCCAGCCCCCA	0.736000													4	9					0	0	0.000248	0	0
FBN1	2200	broad.mit.edu	37	15	48722978	48722978	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:48722978C>T	ENST00000316623.5	-	56	7216	c.6761G>A	c.(6760-6762)gGa>gAa	p.G2254E		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2254	EGF-like 39; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTCATGTTTTCCCTCTTCACA	0.373000													18	26					0	0	0.001523	0	0
TRMU	55687	broad.mit.edu	37	22	46752874	46752874	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:46752874G>A	ENST00000290846.4	+	11	1577	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	TRMU_ENST00000381019.3_3'UTR	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	413						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CAGCCCAGAAGATGGTCCAGG	0.637000													12	34					0	0	0.001368	0	0
OR6K2	81448	broad.mit.edu	37	1	158669705	158669705	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:158669705G>A	ENST00000359610.2	-	1	781	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAAGACAATGAAGTGAGAGA	0.478000													7	36					0	0	0.003080	0	0
SCG3	29106	broad.mit.edu	37	15	51993429	51993429	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:51993429G>A	ENST00000220478.3	+	10	1598	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	SCG3_ENST00000542355.2_Missense_Mutation_p.D167N	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	399					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGGAAAGACAGATGAACCCAA	0.438000													13	42					0	0	0.001855	0	0
KCNC3	3748	broad.mit.edu	37	19	50827226	50827226	+	Silent	SNP	C	C	T	rs114192110	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:50827226C>T	ENST00000376959.2	-	2	1147	c.984G>A	c.(982-984)ccG>ccA	p.P328P	KCNC3_ENST00000477616.1_Silent_p.P328P|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	328					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CCCCGGGGATCGGGGAGGCCT	0.597000													16	26					0	0	0.006122	0	0
RARRES2	5919	broad.mit.edu	37	7	150037540	150037540	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:150037540C>T	ENST00000466675.1	-	1	1192	c.159G>A	c.(157-159)gaG>gaA	p.E53E	RARRES2_ENST00000482669.1_Silent_p.E53E|RARRES2_ENST00000223271.3_Silent_p.E53E			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	53					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCACGGCGCTCTCCACACTGG	0.677000													5	13					0	0	0.001168	0	0
COL11A1	1301	broad.mit.edu	37	1	103405989	103405989	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:103405989C>T	ENST00000358392.2	-	43	3631	c.3312_splice	c.e43-1	p.G1105_splice	COL11A1_ENST00000370096.3_Splice_Site_p.G1093_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G977_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1054_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1093	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTTTTCTCCCTGTATTGA	0.463000													10	20					0	0	0.006214	0	0
LCTL	197021	broad.mit.edu	37	15	66857168	66857168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:66857168C>T	ENST00000341509.5	-	2	259	c.128G>A	c.(127-129)tGg>tAg	p.W43*	LCTL_ENST00000537670.1_Intron|LCTL_ENST00000563438.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	43					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCACGCCCCAGGAGAAGCC	0.657000													17	56					0	0	0.006122	0	0
TPO	7173	broad.mit.edu	37	2	1437219	1437219	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:1437219G>A	ENST00000345913.4	+	4	280	c.189G>A	c.(187-189)aaG>aaA	p.K63K	TPO_ENST00000337415.3_Silent_p.K63K|TPO_ENST00000349624.3_Silent_p.K63K|TPO_ENST00000539820.1_Silent_p.K63K|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Silent_p.K63K|TPO_ENST00000329066.4_Silent_p.K63K|TPO_ENST00000382201.3_Silent_p.K63K|TPO_ENST00000382269.3_Silent_p.K63K|TPO_ENST00000382198.1_Silent_p.K63K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	63					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAAACCTCAAGAAAAGAGGAA	0.363000													10	29					0	0	0.006214	0	0
STAC	6769	broad.mit.edu	37	3	36570349	36570349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:36570349C>T	ENST00000273183.3	+	10	1282	c.982C>T	c.(982-984)Caa>Taa	p.Q328*	STAC_ENST00000457375.2_Nonsense_Mutation_p.Q267*	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	328	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGGGAAAATTCAAGACAGAAT	0.343000													3	8					0	0	0.004672	0	0
LCN8	138307	broad.mit.edu	37	9	139651001	139651001	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:139651001C>T	ENST00000371688.3	-	3	494	c.199G>A	c.(199-201)Gac>Aac	p.D67N	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	90					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CCCGTACTGTCTATTTCTGAG	0.537000													23	40					0	0	0.003954	0	0
SOGA2	23255	broad.mit.edu	37	18	8819226	8819226	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:8819226C>T	ENST00000359865.3	+	13	3267	c.3125C>T	c.(3124-3126)cCc>cTc	p.P1042L	SOGA2_ENST00000518815.1_Missense_Mutation_p.P367L|SOGA2_ENST00000517570.1_Missense_Mutation_p.P1001L|SOGA2_ENST00000400050.3_Missense_Mutation_p.P1001L|SOGA2_ENST00000306329.11_Missense_Mutation_p.P1361L|SOGA2_ENST00000306285.7_Missense_Mutation_p.P367L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1352																	GCCCACAGGCCCGAGAGGGAG	0.577000													9	44					0	0	0.001368	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807970	18807970	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:18807970G>A	ENST00000400664.1	+	1	547	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	165						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGAACCGAAGAGCTCCC	0.622000													8	35					0	0	0.004482	0	0
RFXANK	8625	broad.mit.edu	37	19	19309986	19309986	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:19309986G>A	ENST00000303088.4	+	9	1129	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	RFXANK_ENST00000456252.3_Missense_Mutation_p.E197K|RFXANK_ENST00000407360.3_Missense_Mutation_p.E219K|RFXANK_ENST00000392324.4_Missense_Mutation_p.E196K|RFXANK_ENST00000353145.1_Missense_Mutation_p.E196K	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	219						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			CCTCACCACCGAAGCCGACTC	0.657000													36	48					0	0	0.004289	0	0
SCN11A	11280	broad.mit.edu	37	3	38962579	38962579	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:38962579G>A	ENST00000450244.1	-	6	1078	c.880C>T	c.(880-882)Ccg>Tcg	p.P294S	SCN11A_ENST00000444237.2_Missense_Mutation_p.P294S|SCN11A_ENST00000456224.3_Missense_Mutation_p.P294S|SCN11A_ENST00000302328.3_Missense_Mutation_p.P294S			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	294					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TAAGCTTCCGGGTTACTGATA	0.443000													70	97					0	0	0.003610	0	0
NR5A2	2494	broad.mit.edu	37	1	200090021	200090021	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:200090021G>A	ENST00000367362.3	+	7	1562	c.1316G>A	c.(1315-1317)cGt>cAt	p.R439H	NR5A2_ENST00000544748.1_Missense_Mutation_p.R367H|NR5A2_ENST00000236914.3_Missense_Mutation_p.R393H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	439					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			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)					GCAAAACTTCGTTCTCTCCAG	0.438000													18	38					0	0	0.001523	0	0
ZNF548	147694	broad.mit.edu	37	19	57910193	57910193	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:57910193C>T	ENST00000366197.5	+	3	788	c.538C>T	c.(538-540)Cca>Tca	p.P180S	AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.P192S|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGAGTGGAAGCCATACAGGGA	0.498000													13	53					0	0	0.001368	0	0
CHAC1	79094	broad.mit.edu	37	15	41247709	41247709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:41247709C>T	ENST00000446533.3	+	3	841	c.532C>T	c.(532-534)Caa>Taa	p.Q178*	CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Intron	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	178					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGCTCCTGACCAACCACTGAA	0.592000													40	137					0	0	0.008740	0	0
FLG	2312	broad.mit.edu	37	1	152282657	152282657	+	Missense_Mutation	SNP	C	C	T	rs147938980	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:152282657C>T	ENST00000368799.1	-	3	4740	c.4705G>A	c.(4705-4707)Ggc>Agc	p.G1569S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1569	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			CTAGAGCTGCCGGCCCGAGTG	0.587000									Ichthyosis				111	79					0	0	0.003610	0	0
SSFA2	6744	broad.mit.edu	37	2	182766501	182766501	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:182766501C>T	ENST00000431877.2	+	8	900	c.721C>T	c.(721-723)Cgt>Tgt	p.R241C	SSFA2_ENST00000428267.2_Missense_Mutation_p.R88C|SSFA2_ENST00000320370.7_Missense_Mutation_p.R241C|SSFA2_ENST00000409001.1_Missense_Mutation_p.R241C	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	241						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AGGCCGTTTTCGTCAAATTGA	0.328000													33	3					0	0	0.002836	0	0
RAB27B	5874	broad.mit.edu	37	18	52544879	52544879	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:52544879G>A	ENST00000262094.5	+	2	584	c.63G>A	c.(61-63)ggG>ggA	p.G21G	RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	21					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CAGGGGTGGGGAAGACAACAT	0.418000													9	30					0	0	0.004482	0	0
DNAH8	1769	broad.mit.edu	37	6	38790634	38790634	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:38790634C>T	ENST00000359357.3	+	25	3147	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S	DNAH8_ENST00000441566.1_Missense_Mutation_p.P965S|DNAH8_ENST00000449981.2_Missense_Mutation_p.P1182S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAGCTATTCCTGCGAGGAA	0.343000													4	21					0	0	0.000248	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482058	140482058	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:140482058G>A	ENST00000231130.2	+	1	1825	c.1825G>A	c.(1825-1827)Gcc>Acc	p.A609T		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		609	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTCAAGGCCACGGAGCC	0.716000													66	40					0	0	0.003610	0	0
PRDM10	56980	broad.mit.edu	37	11	129785642	129785642	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:129785642G>A	ENST00000358825.5	-	17	2682	c.2451C>T	c.(2449-2451)ccC>ccT	p.P817P	PRDM10_ENST00000526082.1_Silent_p.P731P|PRDM10_ENST00000528746.1_Silent_p.P787P|PRDM10_ENST00000423662.2_Silent_p.P731P|PRDM10_ENST00000360871.3_Silent_p.P813P|PRDM10_ENST00000304538.6_Silent_p.P727P	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGCTCAGCATGGGGTCTGGCT	0.627000													44	47					0	0	0.003610	0	0
KCNK1	3775	broad.mit.edu	37	1	233807111	233807111	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:233807111G>A	ENST00000366621.3	+	3	1014	c.846G>A	c.(844-846)gtG>gtA	p.V282V	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.V166V	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	282						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TGTTCTATGTGAAGAAGGACA	0.463000													17	16					0	0	0.004007	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305087	27305087	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:27305087G>A	ENST00000380320.4	+	4	1147	c.648G>A	c.(646-648)acG>acA	p.T216T		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	216					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGGAGACGGCCTTCAACG	0.662000													17	37					0	0	0.004007	0	0
C12orf36	283422	broad.mit.edu	37	12	13529218	13529218	+	Missense_Mutation	SNP	C	C	T	rs149562504	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:13529218C>T	ENST00000318426.2	-	2	339	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	C12orf36_ENST00000539026.1_Missense_Mutation_p.R41Q|C12orf36_ENST00000531049.1_5'UTR|C12orf36_ENST00000527705.2_Missense_Mutation_p.R41Q|C12orf36_ENST00000532841.1_Missense_Mutation_p.R41Q					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		gtcagcccttcgtttcagagg	0.522000													16	32					0	0	0.004007	0	0
TGM3	7053	broad.mit.edu	37	20	2290440	2290440	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:2290440G>A	ENST00000381458.5	+	2	208	c.145G>A	c.(145-147)Ggc>Agc	p.G49S		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	49					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CAAAGGCCTTGGCTCTAACGA	0.493000													24	59					0	0	0.003330	0	0
CNTN5	53942	broad.mit.edu	37	11	99690398	99690398	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:99690398G>A	ENST00000524871.1	+	4	469	c.179G>A	c.(178-180)gGa>gAa	p.G60E	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.G60E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G60E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G60E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	60					cell adhesion	anchored to membrane|plasma membrane	protein binding			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)		CCTTCATTAGGAACACTGAGT	0.433000													11	20					0	0	0.000978	0	0
AGAP11	119385	broad.mit.edu	37	10	88752144	88752144	+	RNA	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:88752144G>A	ENST00000433214.2	+	0	505																											TCTCCAGCTAGGGGATGAAGA	0.433000													4	8					0	0	0.000248	0	0
RGS2	5997	broad.mit.edu	37	1	192780617	192780617	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:192780617G>T	ENST00000235382.5	+	5	558	c.527G>T	c.(526-528)aGg>aTg	p.R176M		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	176	RGS.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						GCCCAGAAAAGGGTATACAGC	0.388000													4	98					1.23904e-05	1.41742e-05	0.000602	1	0
SCARF1	8578	broad.mit.edu	37	17	1543935	1543935	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:1543935G>A	ENST00000263071.4	-	5	866	c.817C>T	c.(817-819)Ccg>Tcg	p.P273S	SCARF1_ENST00000571272.1_Missense_Mutation_p.P273S|SCARF1_ENST00000348987.3_Missense_Mutation_p.P273S|SCARF1_ENST00000574545.1_5'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	273					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAGAGCACGGCTCATTGTGT	0.652000													5	9					0	0	0.001168	0	0
HERC2	8924	broad.mit.edu	37	15	28419645	28419645	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:28419645G>A	ENST00000261609.7	-	65	10061	c.9953C>T	c.(9952-9954)tCg>tTg	p.S3318L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3318					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTGTGGGACGACCCACAAGC	0.597000													9	42					0	0	0.006214	0	0
GDF10	2662	broad.mit.edu	37	10	48429148	48429148	+	Silent	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:48429148G>T	ENST00000224605.2	-	2	1003	c.738C>A	c.(736-738)gtC>gtA	p.V246V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	246					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGTTGGCATAGACTAGGATGT	0.692000													46	11					6.07928e-31	7.26548e-31	0.002222	1	0
SEC31A	22872	broad.mit.edu	37	4	83745800	83745800	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:83745800T>A	ENST00000432794.1	-	26	3521	c.3358A>T	c.(3358-3360)Att>Ttt	p.I1120F	SEC31A_ENST00000505472.1_Missense_Mutation_p.I1138F|SEC31A_ENST00000395310.2_Missense_Mutation_p.I1107F|SEC31A_ENST00000508502.1_Missense_Mutation_p.I1092F|SEC31A_ENST00000443462.2_Missense_Mutation_p.I1087F|SEC31A_ENST00000509142.1_Missense_Mutation_p.I993F|SEC31A_ENST00000264405.5_Missense_Mutation_p.I856F|SEC31A_ENST00000326950.5_Missense_Mutation_p.I1068F|SEC31A_ENST00000448323.1_Missense_Mutation_p.I1107F|SEC31A_ENST00000355196.2_Missense_Mutation_p.I1107F|SEC31A_ENST00000505984.1_Missense_Mutation_p.I1053F|SEC31A_ENST00000348405.4_Missense_Mutation_p.I1068F|SEC31A_ENST00000500777.2_Missense_Mutation_p.I954F|SEC31A_ENST00000513858.1_Missense_Mutation_p.I954F|SEC31A_ENST00000311785.7_Missense_Mutation_p.I993F			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1107					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388000													12	24					0	0	0.001855	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883913	4883913	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:4883913G>A	ENST00000361571.5	-	8	1112	c.701C>T	c.(700-702)tCt>tTt	p.S234F	CAMTA2_ENST00000348066.3_Missense_Mutation_p.S235F|CAMTA2_ENST00000572543.1_Missense_Mutation_p.S240F|CAMTA2_ENST00000358183.4_Missense_Mutation_p.S235F|CAMTA2_ENST00000414043.3_Missense_Mutation_p.S258F|CAMTA2_ENST00000381311.5_Missense_Mutation_p.S237F	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	235					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAGGCTCCCAGAACCTGGAGT	0.542000											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	60					0	0	0.007291	0	0
GABRG2	2566	broad.mit.edu	37	5	161580117	161580117	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:161580117C>A	ENST00000356592.3	+	10	1631	c.1171C>A	c.(1171-1173)Cgc>Agc	p.R391S	GABRG2_ENST00000361925.4_Missense_Mutation_p.R383S|GABRG2_ENST00000414552.2_Missense_Mutation_p.R431S|GABRG2_ENST00000393933.4_Missense_Mutation_p.R288S	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	383					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.R391G(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CATTGATATCCGCCCAAGATC	0.493000													19	40					7.45023e-12	8.69193e-12	0.001523	1	0
SPACA7	122258	broad.mit.edu	37	13	113086757	113086757	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:113086757G>A	ENST00000375699.3	+	5	524		c.e5-1		SPACA7_ENST00000283550.3_Splice_Site			Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7							extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						TTTCCCCACAGAAAAGAATTC	0.348000													14	35					0	0	0.004007	0	0
CBX2	84733	broad.mit.edu	37	17	77757844	77757844	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:77757844C>T	ENST00000310942.4	+	5	706	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	201					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGCAAGCTGCCCCCTCCACTC	0.701000													22	13					0	0	0.002299	0	0
ZNF207	7756	broad.mit.edu	37	17	30677305	30677305	+	Translation_Start_Site	SNP	A	A	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:30677305A>C	ENST00000394670.4	+	1	170	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	ZNF207_ENST00000321233.6_Start_Codon_SNP_p.M1L|ZNF207_ENST00000577908.1_Start_Codon_SNP_p.M1L|ZNF207_ENST00000341711.6_Start_Codon_SNP_p.M1L|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394673.2_Start_Codon_SNP_p.M1L|RP11-227G15.3_ENST00000581915.1_RNA	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	1						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAACACAGTTATGGGTCGCAA	0.542000													23	73					0	0	0.002780	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3661969	3661969	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:3661969G>A	ENST00000335312.3	-	4	338	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	PIP5K1C_ENST00000589578.1_Nonsense_Mutation_p.Q84*|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000537021.1_Nonsense_Mutation_p.Q84*|PIP5K1C_ENST00000539785.1_Nonsense_Mutation_p.Q84*	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	84	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		ATGCCCAGCTGGATGGCACCC	0.662000													4	13					0	0	0.000248	0	0
RAB25	57111	broad.mit.edu	37	1	156038242	156038242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:156038242C>T	ENST00000361084.5	+	3	662	c.421C>T	c.(421-423)Cga>Tga	p.R141*	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	141					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGAGGAGGCCCGAATGTTCGC	0.602000													20	28					0	0	0.001882	0	0
ITGAL	3683	broad.mit.edu	37	16	30516615	30516615	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:30516615C>T	ENST00000356798.6	+	19	2466	c.2286C>T	c.(2284-2286)acC>acT	p.T762T	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.T678T	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	762					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ACTCGGAAACCTGGGAGGTAA	0.577000													11	20					0	0	0.008291	0	0
TMTC3	160418	broad.mit.edu	37	12	88566441	88566441	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:88566441T>C	ENST00000266712.6	+	8	1338	c.1118T>C	c.(1117-1119)gTt>gCt	p.V373A		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	373						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GGATTTGTTGTTGCCGAGCGA	0.343000													23	55					0	0	0.006320	0	0
LPO	4025	broad.mit.edu	37	17	56344883	56344883	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:56344883C>T	ENST00000262290.4	+	12	2183	c.1867C>T	c.(1867-1869)Cgg>Tgg	p.R623W	LPO_ENST00000421678.2_Missense_Mutation_p.R540W|LPO_ENST00000543544.1_Missense_Mutation_p.R564W|LPO_ENST00000582328.1_Missense_Mutation_p.R540W	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	623					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAAAGGGGTCGGGTGGGGCC	0.617000													9	29					0	0	0.006214	0	0
ITIH3	3699	broad.mit.edu	37	3	52842642	52842642	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:52842642G>A	ENST00000449956.2	+	22	2624	c.2618G>A	c.(2617-2619)gGa>gAa	p.G873E	ITIH3_ENST00000416872.2_Missense_Mutation_p.G681E	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	873					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACAACAACGGAGAAGGGCTG	0.522000													12	15					0	0	0.000978	0	0
COL19A1	1310	broad.mit.edu	37	6	70840095	70840095	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:70840095G>C	ENST00000322773.4	+	18	1465	c.1363G>C	c.(1363-1365)Gga>Cga	p.G455R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G77R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	455	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACATGAAGCTGGAGGCCTGAA	0.383000													3	6					0	0	0.004672	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12920100	12920100	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:12920100C>T	ENST00000240189.2	+	3	927	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	280										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)		TCACCTTCTTCAGTGGGCACC	0.458000													35	64					0	0	0.004289	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92844842	92844842	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:92844842G>A	ENST00000394468.2	-	3	664	c.587C>T	c.(586-588)tCc>tTc	p.S196F	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S184F|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S219F|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S184F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	196	Ig-like C2-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGGAGAAAAGGAGTAGGTGGA	0.502000													55	28					0	0	0.003610	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413057	139413057	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:139413057G>A	ENST00000277541.6	-	6	1160	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	362	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGGCCATGGGGACACTCGCA	0.662000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	0					0	0	0.000978	0	0
RANBP10	57610	broad.mit.edu	37	16	67763285	67763285	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:67763285G>A	ENST00000317506.3	-	10	1365	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	RANBP10_ENST00000602677.1_Missense_Mutation_p.S417F|RANBP10_ENST00000448631.2_Missense_Mutation_p.S361F|RANBP10_ENST00000411657.2_Missense_Mutation_p.S300F|RANBP10_ENST00000536251.1_Missense_Mutation_p.S188F	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	417	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggacgaggaggaggaggagga	0.567000													7	9					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	8995693	8995693	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:8995693C>T	ENST00000397910.4	-	63	41498	c.41295G>A	c.(41293-41295)ggG>ggA	p.G13765G	MUC16_ENST00000380951.5_Silent_p.G406G	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13767				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGGGGTCCCAGGAGCTG	0.488000													8	33					0	0	0.006214	0	0
DLG2	1740	broad.mit.edu	37	11	83243757	83243757	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:83243757C>T	ENST00000398309.2	-	16	2342	c.1872G>A	c.(1870-1872)tcG>tcA	p.S624S	DLG2_ENST00000543673.1_Silent_p.S729S|DLG2_ENST00000376106.3_Silent_p.S106S|DLG2_ENST00000398304.1_Silent_p.S106S|DLG2_ENST00000537455.1_Silent_p.S378S|DLG2_ENST00000426717.2_Silent_p.S106S|DLG2_ENST00000404783.3_Silent_p.S106S|DLG2_ENST00000532653.1_Silent_p.S624S|DLG2_ENST00000531015.1_Silent_p.S591S|DLG2_ENST00000330014.6_Silent_p.S563S|DLG2_ENST00000280241.8_Silent_p.S663S|DLG2_ENST00000418306.2_Silent_p.S521S|DLG2_ENST00000524982.1_Silent_p.S624S|DLG2_ENST00000376104.2_Silent_p.S729S|DLG2_ENST00000530800.1_Silent_p.S133S	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	624						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTACCCCTTTCGAATCAATCA	0.373000													21	26					0	0	0.002780	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261913	23261913	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:23261913G>A	ENST00000450802.3	+	12	1123	c.1025G>A	c.(1024-1026)aGg>aAg	p.R342K																								CAAGAAGAGAGGATTCGGGAG	0.567000													10	12					0	0	0.008291	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45500099	45500099	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:45500099G>A	ENST00000359600.5	-	11	2539	c.2334C>T	c.(2332-2334)tcC>tcT	p.S778S		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	778							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGTGAGGGTGGGATGTGTCGC	0.557000													25	64					0	0	0.005443	0	0
ZNF254	9534	broad.mit.edu	37	19	24310670	24310670	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:24310670T>C	ENST00000357002.4	+	4	1983	c.1868T>C	c.(1867-1869)aTt>aCt	p.I623T	ZNF254_ENST00000342944.6_Missense_Mutation_p.I538T	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	623					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CATAAGAGAATTCATACTGGA	0.388000													22	65					0	0	0.001882	0	0
CCNB2	9133	broad.mit.edu	37	15	59416999	59416999	+	Silent	SNP	C	C	T	rs146077987		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:59416999C>T	ENST00000288207.2	+	9	1311	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	RP11-59H7.3_ENST00000559026.1_RNA|CCNB2_ENST00000559622.1_Silent_p.L246L	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	374					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						CAGCAAACTCCTGAAGATCAG	0.493000													9	31					0	0	0.001855	0	0
PLVAP	83483	broad.mit.edu	37	19	17471340	17471340	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:17471340G>A	ENST00000252590.4	-	5	1380	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	440						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTTACCTGGATGGGGCTAC	0.587000													11	57					0	0	0.002450	0	0
MYH6	4624	broad.mit.edu	37	14	23865593	23865593	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:23865593C>T	ENST00000405093.3	-	20	2399	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	MYH6_ENST00000356287.3_Missense_Mutation_p.E777K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	777	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCCGCATCTCCTCCAGCAGC	0.612000													21	16					0	0	0.001882	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735631	55735631	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:55735631A>T	ENST00000312345.2	-	1	359	c.309T>A	c.(307-309)tgT>tgA	p.C103*		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCAGAAGGAGACACTCCGTGC	0.423000													9	10					0	0	0.006214	0	0
GCN1L1	10985	broad.mit.edu	37	12	120595757	120595757	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:120595757G>A	ENST00000300648.6	-	26	2995	c.2983C>T	c.(2983-2985)Cac>Tac	p.H995Y		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	995					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCACTGTGGTGGGGCATC	0.612000													15	38					0	0	0.003163	0	0
ZNF57	126295	broad.mit.edu	37	19	2917840	2917840	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:2917840C>T	ENST00000306908.5	+	4	1369	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Silent_p.F375F	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGATCATTCCGAGGTCATT	0.433000													33	38					0	0	0.002445	0	0
CBLB	868	broad.mit.edu	37	3	105421045	105421045	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:105421045C>T	ENST00000264122.4	-	12	2173	c.1852G>A	c.(1852-1854)Gga>Aga	p.G618R	CBLB_ENST00000394027.3_Missense_Mutation_p.G640R|CBLB_ENST00000403724.1_Missense_Mutation_p.G618R|CBLB_ENST00000405772.1_Missense_Mutation_p.G618R	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	618	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCTGTGATTCCAGGTTTTGGA	0.527000			Mis S		AML								31	26					0	0	0.007291	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042232	86042232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:86042232C>T	ENST00000414626.2	+	10	2534	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*	LRRCC1_ENST00000360375.3_Nonsense_Mutation_p.R569*			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	569					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCCCTTCATCGAGAAAGAGA	0.368000													20	47					0	0	0.001523	0	0
FAM111B	374393	broad.mit.edu	37	11	58892632	58892632	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:58892632C>T	ENST00000343597.3	+	4	1253	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	FAM111B_ENST00000411426.1_Silent_p.P324P|FAM111B_ENST00000529618.1_Silent_p.P324P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	354							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GTAGTTTGCCCCGAAAATATA	0.403000													27	41					0	0	0.006320	0	0
NDST4	64579	broad.mit.edu	37	4	115998003	115998003	+	Missense_Mutation	SNP	C	C	T	rs148107560		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:115998003C>T	ENST00000264363.2	-	2	868	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	64	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.E64K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTTTTCAGCTCCATTGACCTA	0.413000													36	20					0	0	0.003755	0	0
OR4S1	256148	broad.mit.edu	37	11	48328546	48328546	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:48328546C>T	ENST00000319988.1	+	1	772	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258C(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CATGTACATTCGTCCCTCCAC	0.488000													37	67					0	0	0.006230	0	0
LHX8	431707	broad.mit.edu	37	1	75608911	75608911	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:75608911C>T	ENST00000294638.5	+	6	1162	c.498C>T	c.(496-498)tcC>tcT	p.S166S	LHX8_ENST00000356261.3_Silent_p.S156S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	166	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCTGCTTTTCCTGCAAAAGGC	0.478000													22	53					0	0	0.001523	0	0
HIF3A	64344	broad.mit.edu	37	19	46834510	46834510	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:46834510C>T	ENST00000339613.2	+	13	1897	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L	HIF3A_ENST00000244303.6_Silent_p.L535L|HIF3A_ENST00000600383.1_Silent_p.L535L|HIF3A_ENST00000377670.4_Silent_p.L604L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Silent_p.L602L|HIF3A_ENST00000420102.2_Silent_p.L553L|HIF3A_ENST00000472815.1_Intron			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	604	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CGAAAACTTTCTGCTCTTTCC	0.537000													9	47					0	0	0.006214	0	0
DNAH1	25981	broad.mit.edu	37	3	52380754	52380754	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:52380754C>T	ENST00000420323.2	+	11	2184	c.1923C>T	c.(1921-1923)gtC>gtT	p.V641V		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	641	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGACATGGTCTGGGGTGACG	0.597000													6	3					0	0	0.001984	0	0
DGCR2	9993	broad.mit.edu	37	22	19055622	19055622	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:19055622G>A	ENST00000545799.1	-	3	519	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	DGCR2_ENST00000537045.1_Missense_Mutation_p.R66C|DGCR2_ENST00000263196.7_Missense_Mutation_p.R107C			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	107					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTGCTGAAGCGAACGGGCTGC	0.647000													12	27					0	0	0.001855	0	0
RYR3	6263	broad.mit.edu	37	15	34113767	34113767	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:34113767C>T	ENST00000389232.4	+	80	11029	c.10959C>T	c.(10957-10959)atC>atT	p.I3653I	RYR3_ENST00000415757.3_Silent_p.I3648I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3653					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCTGGGGATCGCCATTCTGA	0.542000													31	32					0	0	0.006230	0	0
DNAH5	1767	broad.mit.edu	37	5	13809266	13809266	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:13809266G>T	ENST00000265104.4	-	46	7743	c.7639C>A	c.(7639-7641)Cag>Aag	p.Q2547K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2547					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGTATTCCTGGGTACGCGTG	0.448000									Kartagener syndrome				29	81					5.45727e-16	6.45649e-16	0.008361	1	0
TTN	7273	broad.mit.edu	37	2	179537145	179537145	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:179537145G>A	ENST00000589042.1	-	154	35143	c.34919C>T	c.(34918-34920)cCc>cTc	p.P11640L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11266L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10339L|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11476	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGCTGGGGGAACAGCTTC	0.343000													134	17					0	0	0.003610	0	0
INMT	11185	broad.mit.edu	37	7	30795182	30795182	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:30795182C>T	ENST00000013222.5	+	3	523	c.507C>T	c.(505-507)gcC>gcT	p.A169A	INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Silent_p.A168A	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	169						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TGGAGTGTGCCTGCTGTAGCC	0.657000													18	61					0	0	0.007413	0	0
CPN1	1369	broad.mit.edu	37	10	101841285	101841285	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:101841285C>T	ENST00000370418.3	-	1	349	c.98G>A	c.(97-99)cGg>cAg	p.R33Q		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	33	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTACAGCGTCCGCACAAGATC	0.577000													9	26					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179594552	179594552	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:179594552C>T	ENST00000589042.1	-	63	18652	c.18428G>A	c.(18427-18429)gGg>gAg	p.G6143E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5826E|TTN_ENST00000342992.6_Missense_Mutation_p.G4899E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5826	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTCATTCCCGTCTAGATA	0.428000													31	4					0	0	0.002096	0	0
SNX14	57231	broad.mit.edu	37	6	86238080	86238080	+	Splice_Site	SNP	C	C	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:86238080C>A	ENST00000314673.3	-	20	2071	c.1894_splice	c.e20-1	p.G632_splice	SNX14_ENST00000513865.1_Intron|SNX14_ENST00000505648.1_Splice_Site_p.G580_splice|SNX14_ENST00000369627.2_Splice_Site_p.G623_splice|SNX14_ENST00000346348.3_Splice_Site_p.G579_splice|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	632	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AGGAAATGCACCTGAAATTAG	0.323000													44	3					4.17593e-13	4.89133e-13	0.007835	1	0
RIMBP2	23504	broad.mit.edu	37	12	130898740	130898740	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:130898740G>A	ENST00000261655.4	-	14	2745	c.2582C>T	c.(2581-2583)cCg>cTg	p.P861L		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	861	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CATGGTGAGCGGGTCGTAGTC	0.577000													31	56					0	0	0.001786	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40844536	40844536	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:40844536C>T	ENST00000264638.4	+	17	2767	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	850	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ATGTGGTCTTCGCCTTTGATG	0.517000													26	52					0	0	0.007291	0	0
ENOSF1	55556	broad.mit.edu	37	18	691213	691213	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:691213C>T	ENST00000383578.3	-	5	445	c.241G>A	c.(241-243)Gat>Aat	p.D81N	ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000340116.7_Missense_Mutation_p.D184N|ENOSF1_ENST00000251101.7_Missense_Mutation_p.D163N	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	163					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CCTAGGGCATCCTCCTCAGTC	0.483000													23	59					0	0	0.002299	0	0
RNF219	79596	broad.mit.edu	37	13	79190530	79190530	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:79190530A>C	ENST00000282003.6	-	6	1424	c.1366T>G	c.(1366-1368)Tca>Gca	p.S456A	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	456	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AAACATTCTGATTTCTTTTCA	0.338000													8	19					0	0	0.003080	0	0
GGT5	2687	broad.mit.edu	37	22	24628100	24628100	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:24628100C>T	ENST00000327365.4	-	5	1089	c.673G>A	c.(673-675)Gag>Aag	p.E225K	GGT5_ENST00000418439.2_Missense_Mutation_p.E148K|GGT5_ENST00000398292.3_Missense_Mutation_p.E225K|GGT5_ENST00000263112.7_Missense_Mutation_p.E193K	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	225					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GCCACGGTCTCCAGGGTGGTG	0.657000													4	7					0	0	0.000248	0	0
ACD	65057	broad.mit.edu	37	16	67694198	67694198	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:67694198G>A	ENST00000219251.8	-	1	515	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	ACD_ENST00000393919.4_Missense_Mutation_p.L62F	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	62					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736000													6	11					0	0	0.001168	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958136	57958136	+	Silent	SNP	G	G	A	rs61902822		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:57958136G>A	ENST00000311591.3	+	1	231	c.174G>A	c.(172-174)ccG>ccA	p.P58P		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TCCACACCCCGATGTACTTCT	0.532000													20	1					0	0	0.007413	0	0
LTBP2	4053	broad.mit.edu	37	14	74971851	74971851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:74971851C>T	ENST00000261978.4	-	29	4590	c.4204G>A	c.(4204-4206)Ggg>Agg	p.G1402R	LTBP2_ENST00000556690.1_Missense_Mutation_p.G1358R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1402					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCATGGTCCCCCGTTGGGGCC	0.597000													9	29					0	0	0.006214	0	0
PXDN	7837	broad.mit.edu	37	2	1647273	1647273	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:1647273G>A	ENST00000252804.4	-	19	3869	c.3819C>T	c.(3817-3819)atC>atT	p.I1273I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1273					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGTCGCATAGGATCCTGGCCA	0.612000													19	51					0	0	0.001882	0	0
NXPE2	120406	broad.mit.edu	37	11	114569393	114569393	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:114569393C>T	ENST00000375475.5	+	3	857	c.759C>T	c.(757-759)ttC>ttT	p.F253F	NXPE2_ENST00000389586.4_Silent_p.F253F					neurexophilin and PC-esterase domain family, member 2																		AAGAAGCCTTCTACTGTGTGA	0.468000													8	9					0	0	0.003080	0	0
MISP	126353	broad.mit.edu	37	19	757879	757879	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:757879G>A	ENST00000215582.6	+	2	1036	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GAGAGCAGAGGGGGCTTCGGC	0.677000													21	24					0	0	0.001882	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45523216	45523216	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:45523216G>A	ENST00000291574.4	+	23	3759	c.3584G>A	c.(3583-3585)gGg>gAg	p.G1195E		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1195					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GACAAGCACGGGGACGACCAG	0.622000													3	4					0	0	0.004672	0	0
GABRA6	2559	broad.mit.edu	37	5	161117307	161117307	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:161117307C>T	ENST00000523217.1	+	7	986	c.744C>T	c.(742-744)tcC>tcT	p.S248S	GABRA6_ENST00000274545.5_Silent_p.S258S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	258					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATTCTTTCCCAGGTGTCTT	0.393000										TCGA Ovarian(5;0.080)			18	52					0	0	0.007413	0	0
CPNE4	131034	broad.mit.edu	37	3	131268915	131268915	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:131268915C>T	ENST00000512055.1	-	18	3304	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	CPNE4_ENST00000502818.1_Missense_Mutation_p.G411E|CPNE4_ENST00000512332.1_Missense_Mutation_p.G411E|CPNE4_ENST00000429747.1_Missense_Mutation_p.G393E|CPNE4_ENST00000511604.1_Missense_Mutation_p.G393E			Q96A23	CPNE4_HUMAN	copine IV	393	VWFA.									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						TTCCACAACTCCTTGAATTCC	0.448000													19	13					0	0	0.007413	0	0
MTG2	26164	broad.mit.edu	37	20	60773899	60773899	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:60773899C>T	ENST00000370823.3	+	5	696	c.678C>T	c.(676-678)caC>caT	p.H226H	MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		CGGTGGCCCACGCCGGAATGG	0.577000													11	48					0	0	0.001368	0	0
ATP2B3	492	broad.mit.edu	37	X	152807134	152807134	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:152807134G>A	ENST00000370186.1	+	4	740	c.414G>A	c.(412-414)ggG>ggA	p.G138G	ATP2B3_ENST00000359149.3_Silent_p.G138G|ATP2B3_ENST00000349466.2_Silent_p.G138G|ATP2B3_ENST00000393842.1_Silent_p.G138G|ATP2B3_ENST00000370181.2_Silent_p.G138G|ATP2B3_ENST00000263519.4_Silent_p.G138G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	138					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCTGTGGGAATGTGTCGG	0.617000													19	3					0	0	0.008871	0	0
OR2G2	81470	broad.mit.edu	37	1	247752556	247752556	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:247752556G>A	ENST00000320065.1	+	1	895	c.895G>A	c.(895-897)Gag>Aag	p.E299K	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAGGATCAAGGAGGTGAAAGG	0.378000													71	56					0	0	0.003610	0	0
IFIH1	64135	broad.mit.edu	37	2	163124599	163124599	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:163124599G>A	ENST00000263642.2	-	14	3200	c.2805C>T	c.(2803-2805)ttC>ttT	p.F935F		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	935					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GGACTCACTTGAATTCTGGGG	0.373000													9	14					0	0	0.006214	0	0
KCNB2	9312	broad.mit.edu	37	8	73848253	73848253	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:73848253G>A	ENST00000523207.1	+	3	1251	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	221					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGCAGGAAACGGACGAATTTG	0.468000													25	63					0	0	0.002780	0	0
GABRA1	2554	broad.mit.edu	37	5	161324352	161324352	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:161324352G>A	ENST00000428797.2	+	11	1650	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	GABRA1_ENST00000393943.4_Missense_Mutation_p.G432E|GABRA1_ENST00000444819.1_Missense_Mutation_p.G432E|GABRA1_ENST00000437025.2_Missense_Mutation_p.G432E|GABRA1_ENST00000420560.1_Missense_Mutation_p.G432E|GABRA1_ENST00000023897.6_Missense_Mutation_p.G432E	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	432					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTGCTATTTGGAATCTTTAAC	0.428000													27	66					0	0	0.003271	0	0
COL25A1	84570	broad.mit.edu	37	4	109753581	109753581	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:109753581A>C	ENST00000399132.1	-	32	2195	c.1665T>G	c.(1663-1665)gaT>gaG	p.D555E	COL25A1_ENST00000399126.1_Missense_Mutation_p.D555E|COL25A1_ENST00000399127.1_Missense_Mutation_p.D567E	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	555						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCATAGGACCATCTGTACCCT	0.408000													5	13					0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	38997004	38997004	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:38997004C>T	ENST00000355481.4	+	55	8734	c.8603C>T	c.(8602-8604)tCc>tTc	p.S2868F	RYR1_ENST00000359596.3_Missense_Mutation_p.S2868F|RYR1_ENST00000360985.3_Missense_Mutation_p.S2868F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2868	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTTACCCTGTCCCGGGAGCTG	0.592000													4	37					0	0	0.000248	0	0
SYCP2L	221711	broad.mit.edu	37	6	10961744	10961744	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:10961744G>A	ENST00000283141.6	+	28	2663	c.2367G>A	c.(2365-2367)ggG>ggA	p.G789G		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	789						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AATTCTGGGGGAAACAGTCTG	0.383000													19	44					0	0	0.008871	0	0
GPR101	83550	broad.mit.edu	37	X	136113174	136113174	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:136113174C>T	ENST00000298110.1	-	1	659	c.660G>A	c.(658-660)cgG>cgA	p.R220R		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	220						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CATGCTGCCTCCGGGCTGCAC	0.537000													22	36					0	0	0.001882	0	0
DYNAP	284254	broad.mit.edu	37	18	52265165	52265165	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:52265165C>T	ENST00000321600.1	+	3	468	c.422C>T	c.(421-423)tCg>tTg	p.S141L	DYNAP_ENST00000585973.1_Missense_Mutation_p.S89L	NM_173629.1	NP_775900.1			dynactin associated protein																		AACAAAGGATCGGCCAATTCC	0.448000													12	44					0	0	0.001855	0	0
BAZ2B	29994	broad.mit.edu	37	2	160241750	160241750	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:160241750G>A	ENST00000392783.2	-	23	4097	c.3602C>T	c.(3601-3603)gCt>gTt	p.A1201V	BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1167V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1101V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1165V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGCCTGAAAAGCTTTGGTCTT	0.458000													23	53					0	0	0.001882	0	0
UCMA	221044	broad.mit.edu	37	10	13275593	13275593	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:13275593C>T	ENST00000378681.3	-	3	237	c.165G>A	c.(163-165)tcG>tcA	p.S55S	UCMA_ENST00000463405.2_Silent_p.S33S	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	55						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGAGGAAATTCGAGGCATCTG	0.577000													16	30					0	0	0.007413	0	0
C6orf89	221477	broad.mit.edu	37	6	36884343	36884343	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:36884343G>T	ENST00000480824.2	+	7	1112	c.818G>T	c.(817-819)gGg>gTg	p.G273V	C6orf89_ENST00000355190.3_Missense_Mutation_p.G280V|C6orf89_ENST00000373685.1_Missense_Mutation_p.G273V|C6orf89_ENST00000359359.2_Missense_Mutation_p.G167V|C6orf89_ENST00000510325.2_Missense_Mutation_p.G167V			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	273						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CCTGTTGTGGGGAGTAAGGTA	0.423000													12	24					0.00010058	0.000114614	0.001368	1	0
REST	5978	broad.mit.edu	37	4	57777248	57777248	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:57777248G>A	ENST00000309042.7	+	2	758	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	148					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGGAGCGGAGGACAAAGGCA	0.463000													12	40					0	0	0.000978	0	0
KDM5B	10765	broad.mit.edu	37	1	202702780	202702780	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:202702780G>A	ENST00000367265.3	-	23	4822	c.3658C>T	c.(3658-3660)Cat>Tat	p.H1220Y	KDM5B_ENST00000367264.2_Missense_Mutation_p.H1256Y	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1220					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTCCGACAATGGGGACAAAGC	0.537000													15	30					0	0	0.002450	0	0
NONO	4841	broad.mit.edu	37	X	70516739	70516739	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:70516739C>T	ENST00000535149.1	+	5	1161	c.518C>T	c.(517-519)tCc>tTc	p.S173F	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.S262F|NONO_ENST00000373856.3_Missense_Mutation_p.S262F|NONO_ENST00000276079.8_Missense_Mutation_p.S262F	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	262	DBHS.|RRM 2.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CAGCCTGGCTCCTTTGAGTAT	0.502000			T	TFE3	papillary renal cancer								15	16					0	0	0.004007	0	0
CYB561	1534	broad.mit.edu	37	17	61513423	61513423	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:61513423G>A	ENST00000584031.1	-	3	592	c.293C>T	c.(292-294)gCc>gTc	p.A98V	CYB561_ENST00000542042.1_Missense_Mutation_p.A165V|CYB561_ENST00000582034.1_Missense_Mutation_p.A69V|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000448884.2_Missense_Mutation_p.A98V|CYB561_ENST00000392976.1_Missense_Mutation_p.A98V|CYB561_ENST00000360793.3_Missense_Mutation_p.A98V|CYB561_ENST00000582297.1_Missense_Mutation_p.A98V|CYB561_ENST00000582997.1_Missense_Mutation_p.A105V|CYB561_ENST00000581573.1_Missense_Mutation_p.A98V|CYB561_ENST00000392975.2_Missense_Mutation_p.A98V			P49447	CY561_HUMAN	cytochrome b561	98	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		ACCAACCAGGGCGATGACGAG	0.627000													12	39					0	0	0.001855	0	0
CARD6	84674	broad.mit.edu	37	5	40843796	40843796	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:40843796G>A	ENST00000254691.5	+	2	1025	c.826G>A	c.(826-828)Gag>Aag	p.E276K	CARD6_ENST00000381677.3_Missense_Mutation_p.E276K	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	276	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGAGGAACAGGAGAAAAGTAT	0.403000													7	27					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9061464	9061464	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9061464G>A	ENST00000397910.4	-	3	26185	c.25982C>T	c.(25981-25983)tCc>tTc	p.S8661F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8663	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAAACAGAGGAAGGGGATAG	0.453000													14	63					0	0	0.002450	0	0
LOXL2	4017	broad.mit.edu	37	8	23179780	23179780	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:23179780G>A	ENST00000389131.3	-	7	1534	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	389	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCGTTGAGGTGGATGGGTCCG	0.493000													11	24					0	0	0.001368	0	0
TIE1	7075	broad.mit.edu	37	1	43772659	43772659	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:43772659C>T	ENST00000372476.3	+	4	712	c.633C>T	c.(631-633)atC>atT	p.I211I	TIE1_ENST00000538015.1_Silent_p.I211I|TIE1_ENST00000441333.2_Silent_p.I211I	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	211					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCGGCTCATCGTGCGGGGTC	0.637000													41	25					0	0	0.003610	0	0
IL16	3603	broad.mit.edu	37	15	81578108	81578108	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:81578108G>A	ENST00000394660.2	+	10	1629	c.1269G>A	c.(1267-1269)acG>acA	p.T423T	IL16_ENST00000302987.4_Silent_p.T423T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	423	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGTCTACACGATCCTGAGTC	0.517000													31	103					0	0	0.007291	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144062372	144062372	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:144062372G>A	ENST00000056217.5	+	2	2784	c.2610G>A	c.(2608-2610)atG>atA	p.M870I		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	870					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GAGGACATATGAACTCAGGGG	0.627000													5	83					0	0	0.001984	0	0
FCN2	2220	broad.mit.edu	37	9	137779165	137779165	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:137779165G>A	ENST00000350339.2	+	7	746	c.732G>A	c.(730-732)ggG>ggA	p.G244G	FCN2_ENST00000291744.6_Silent_p.G282G	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	282	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACCTCAGGGGGACTCATGGCA	0.483000													14	25					0	0	0.001855	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844352	131844352	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:131844352C>T	ENST00000359827.3	-	25	5502	c.4540G>A	c.(4540-4542)Gag>Aag	p.E1514K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1514K			Q9HCM2	PLXA4_HUMAN	plexin A4	1514						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTGGGACCTCGGGGCTGTTG	0.527000													56	224					0	0	0.003610	0	0
POT1	25913	broad.mit.edu	37	7	124503644	124503644	+	Silent	SNP	T	T	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:124503644T>A	ENST00000357628.3	-	8	904	c.306A>T	c.(304-306)gcA>gcT	p.A102A	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	102					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACGTCAAAGATGCAAAGCCAG	0.398000													16	64					0	0	0.007413	0	0
MYCT1	80177	broad.mit.edu	37	6	153019124	153019124	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:153019124C>T	ENST00000367245.5	+	1	95	c.87C>T	c.(85-87)ttC>ttT	p.F29F	MYCT1_ENST00000529453.1_Silent_p.F29F	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	29						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGCTTTTTTTCGACATACTGG	0.328000													12	11					0	0	0.000978	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													7	37					0	0	0.003080	0	0
ICAM1	3383	broad.mit.edu	37	19	10394749	10394749	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:10394749C>T	ENST00000264832.3	+	4	1003	c.678C>T	c.(676-678)gtC>gtT	p.V226V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	226					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GCCCCCGGGTCCTAGAGGTGG	0.642000													19	69					0	0	0.006122	0	0
ANKMY2	57037	broad.mit.edu	37	7	16649314	16649314	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:16649314G>A	ENST00000306999.2	-	7	1066	c.823C>T	c.(823-825)Cct>Tct	p.P275S		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	275						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCACAGTAAGGAAATTTTCTG	0.393000													13	35					0	0	0.001368	0	0
NPY	4852	broad.mit.edu	37	7	24329122	24329122	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:24329122G>A	ENST00000407573.1	+	4	483	c.193G>A	c.(193-195)Gga>Aga	p.G65R	NPY_ENST00000242152.2_Missense_Mutation_p.G65R|NPY_ENST00000405982.1_Missense_Mutation_p.G65R			P01303	NPY_HUMAN	neuropeptide Y	65					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TTCCAGATATGGAAAACGATC	0.383000													8	48					0	0	0.003080	0	0
DNAH9	1770	broad.mit.edu	37	17	11666846	11666846	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:11666846C>T	ENST00000262442.3	+	36	7153	c.7085C>T	c.(7084-7086)cCt>cTt	p.P2362L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2362L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2362					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GAGGACATCCCTGCAGACTGC	0.478000													24	66					0	0	0.003954	0	0
RS1	6247	broad.mit.edu	37	X	18674879	18674879	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:18674879C>T	ENST00000379984.3	-	3	119		c.e3-1			NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1						cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CGCCTTCATCCTGCAGCCAAC	0.552000													21	24					0	0	0.008871	0	0
PYGB	5834	broad.mit.edu	37	20	25262702	25262702	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:25262702G>A	ENST00000216962.4	+	12	1547	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	479					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	AGCCAGAGAAGTTCCAGAATA	0.567000													27	37					0	0	0.005443	0	0
ENPP1	5167	broad.mit.edu	37	6	132201156	132201156	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:132201156C>T	ENST00000360971.2	+	20	2102	c.2082C>T	c.(2080-2082)tcC>tcT	p.S694S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	694	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTGGACATCCTATACCGTGG	0.403000													29	37					0	0	0.006320	0	0
PAX1	5075	broad.mit.edu	37	20	21695183	21695183	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:21695183C>T	ENST00000444366.2	+	4	1286	c.1285C>T	c.(1285-1287)Ccg>Tcg	p.P429S	PAX1_ENST00000398485.2_Silent_p.S449S			P15863	PAX1_HUMAN	paired box 1	0					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACTGCCCATCCCGGCCTCGAC	0.726000													3	11					0	0	0.000248	0	0
ATP6V0E1	8992	broad.mit.edu	37	5	172447304	172447304	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:172447304C>T	ENST00000519374.1	+	3	320	c.216C>T	c.(214-216)acC>acT	p.T72T	ATP6V0E1_ENST00000519911.1_Intron|ATP6V0E1_ENST00000517669.1_Silent_p.T72T|ATP6V0E1_ENST00000265093.4_Silent_p.T56T	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	72					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAAATGAAACCATCTGGTATC	0.443000													5	24					0	0	0.001168	0	0
NXNL1	115861	broad.mit.edu	37	19	17571430	17571430	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:17571430C>T	ENST00000301944.2	-	1	333	c.249G>A	c.(247-249)acG>acA	p.T83T	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	83	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						GCTGCTCCTCCGTGGAGTCCT	0.582000													16	52					0	0	0.004007	0	0
VSIG10	54621	broad.mit.edu	37	12	118520090	118520090	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:118520090G>A	ENST00000359236.5	-	3	782	c.506C>T	c.(505-507)gCc>gTc	p.A169V	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	169	Ig-like C2-type 2.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GGAATTCAGGGCCTGGAACCA	0.562000													21	52					0	0	0.002780	0	0
LRRN2	10446	broad.mit.edu	37	1	204587544	204587544	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:204587544C>T	ENST00000367175.1	-	1	3789	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	LRRN2_ENST00000367177.3_Missense_Mutation_p.G526E|LRRN2_ENST00000367176.3_Missense_Mutation_p.G526E			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	526					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CAGCCCCTGTCCTTCGTCCCT	0.622000													26	15					0	0	0.004656	0	0
RBM47	54502	broad.mit.edu	37	4	40440254	40440254	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:40440254G>A	ENST00000319592.4	-	4	1366	c.657C>T	c.(655-657)atC>atT	p.I219I	RBM47_ENST00000514014.1_Silent_p.I181I|RBM47_ENST00000381793.2_Silent_p.I219I|RBM47_ENST00000295971.7_Silent_p.I219I|RBM47_ENST00000381795.6_Silent_p.I219I|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	219	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCCACAGCTGGATGCGGCCAG	0.657000													17	42					0	0	0.004990	0	0
SHANK2	22941	broad.mit.edu	37	11	70336458	70336458	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:70336458G>C	ENST00000338508.4	-	30	2476	c.2477C>G	c.(2476-2478)aCg>aGg	p.T826R	SHANK2_ENST00000449116.2_Missense_Mutation_p.T227R|SHANK2_ENST00000423696.2_Missense_Mutation_p.T446R|SHANK2_ENST00000449833.2_Missense_Mutation_p.T230R|SHANK2_ENST00000357171.3_Missense_Mutation_p.T237R|SHANK2_ENST00000409161.1_Missense_Mutation_p.T229R|SHANK2_ENST00000409530.1_Missense_Mutation_p.T236R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	446					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AACAGTGGGCGTCATCACGGC	0.607000													44	10					0	0	0.003610	0	0
LRP5L	91355	broad.mit.edu	37	22	25753257	25753257	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:25753257G>A	ENST00000444995.3	-	5	1103	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F	LRP5L_ENST00000402785.2_Missense_Mutation_p.L135F|LRP5L_ENST00000402859.2_Missense_Mutation_p.L135F			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	135										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CCCCAGTAGAGCTTCCCTTCC	0.632000													26	18					0	0	0.007291	0	0
TRPC5	7224	broad.mit.edu	37	X	111020194	111020194	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:111020194C>T	ENST00000262839.2	-	11	3187	c.2269G>A	c.(2269-2271)Gtg>Atg	p.V757M		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	757					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGGTCAAGCACTTCATACCGA	0.428000													57	75					0	0	0.003610	0	0
TRIM46	80128	broad.mit.edu	37	1	155149752	155149752	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:155149752G>T	ENST00000392451.2	+	5	978	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	TRIM46_ENST00000368383.3_Missense_Mutation_p.V299L|TRIM46_ENST00000543729.1_Missense_Mutation_p.V306L|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.V173L|TRIM46_ENST00000368382.1_Missense_Mutation_p.V276L|TRIM46_ENST00000334634.4_Missense_Mutation_p.V299L|TRIM46_ENST00000368385.4_Missense_Mutation_p.V299L			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	299						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGAGGAGGCCGTGAGGCACAC	0.607000													40	21					2.95478e-19	3.51702e-19	0.008740	1	0
NDN	4692	broad.mit.edu	37	15	23931429	23931429	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:23931429G>A	ENST00000331837.4	-	1	1021	c.936C>T	c.(934-936)caC>caT	p.H312H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	312					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGCGAGGGTAGTGGGCAGTGG	0.592000									Prader-Willi syndrome				32	59					0	0	0.002096	0	0
DNAH6	1768	broad.mit.edu	37	2	84800642	84800642	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:84800642G>A	ENST00000389394.3	+	12	1992	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	DNAH6_ENST00000398278.2_Missense_Mutation_p.E619K|DNAH6_ENST00000237449.6_Missense_Mutation_p.E619K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	619	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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						AGCTACCTTTGAAAAGTTCCA	0.343000													15	42					0	0	0.002450	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956429	128956429	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:128956429G>A	ENST00000274487.4	+	9	1724	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	527	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGTAGCAAGGAAGATTTGGA	0.403000													22	74					0	0	0.001786	0	0
SNHG19	100507303	broad.mit.edu	37	16	2205081	2205081	+	RNA	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:2205081G>A	ENST00000563192.1	-	0	216				SNORD60_ENST00000383903.1_RNA																							CGAGGTGTCAGAAGTCAAAGC	0.527000													7	16					0	0	0.004482	0	0
DCDC2	51473	broad.mit.edu	37	6	24357738	24357738	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:24357738G>A	ENST00000378454.3	-	1	542	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	81	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCCCCGCTCTGGATCTGGTCT	0.612000													9	30					0	0	0.004482	0	0
SCN10A	6336	broad.mit.edu	37	3	38793874	38793874	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:38793874C>T	ENST00000449082.2	-	11	1590	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	531					sensory perception	voltage-gated sodium channel complex				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)	CGATGGCTTTCGTGGTCTCCA	0.612000													13	14					0	0	0.003163	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407303	148407303	+	Silent	SNP	T	T	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:148407303T>C	ENST00000538184.1	-	7	1521	c.633A>G	c.(631-633)ggA>ggG	p.G211G	SH3TC2_ENST00000515425.1_Silent_p.G664G|SH3TC2_ENST00000512049.1_Silent_p.G657G|SH3TC2_ENST00000394358.2_Silent_p.G549G			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	664							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGGGTGTCCAGAGAGGA	0.587000													19	39					0	0	0.007413	0	0
CSF1R	1436	broad.mit.edu	37	5	149441394	149441394	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:149441394G>A	ENST00000286301.3	-	12	1936	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	549					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.R549C(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ATCTTCCAGCGGACCTGGTAC	0.577000													30	78					0	0	0.003755	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561418	44561418	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:44561418G>A	ENST00000289547.4	-	12	2901	c.2846C>T	c.(2845-2847)cCt>cTt	p.P949L	NPC1L1_ENST00000546276.1_Missense_Mutation_p.P903L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P949L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	949					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			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)	GGAGGAGGCAGGGATGGCCAG	0.617000													10	43					0	0	0.001368	0	0
BTBD8	284697	broad.mit.edu	37	1	92573455	92573455	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:92573455G>A	ENST00000370382.3	+	4	826	c.559G>A	c.(559-561)Gag>Aag	p.E187K	BTBD8_ENST00000342818.3_Missense_Mutation_p.E187K|BTBD8_ENST00000540648.1_Missense_Mutation_p.E187K			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	187						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTATGACTTGGAGCCTGCATC	0.289000													5	17					0	0	0.001168	0	0
RS1	6247	broad.mit.edu	37	X	18674878	18674878	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:18674878C>T	ENST00000379984.3	-	3	119	c.78_splice	c.e3-1	p.D27_splice		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	27					cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TCGCCTTCATCCTGCAGCCAA	0.547000													21	25					0	0	0.008871	0	0
CHODL	140578	broad.mit.edu	37	21	19629391	19629391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:19629391G>A	ENST00000299295.2	+	3	885	c.494G>A	c.(493-495)tGg>tAg	p.W165*	CHODL_ENST00000400128.1_Nonsense_Mutation_p.W124*|CHODL_ENST00000543733.1_Nonsense_Mutation_p.W146*|CHODL_ENST00000338326.3_Nonsense_Mutation_p.W124*|CHODL_ENST00000400127.1_Nonsense_Mutation_p.W124*|CHODL_ENST00000400135.1_Nonsense_Mutation_p.W124*|CHODL_ENST00000400131.1_Nonsense_Mutation_p.W124*	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	165	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CTTTACCAGTGGAATGATGAC	0.423000													16	24					0	0	0.006122	0	0
KRT9	3857	broad.mit.edu	37	17	39724859	39724859	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:39724859G>A	ENST00000246662.4	-	5	1136	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	KRT9_ENST00000588431.1_Silent_p.S124S	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	357	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GACCACTACTGGATACCTCAT	0.557000													148	112					0	0	0.003610	0	0
CCNE1	898	broad.mit.edu	37	19	30314585	30314585	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:30314585C>T	ENST00000262643.3	+	12	1413	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	CCNE1_ENST00000444983.2_Silent_p.A363A|CCNE1_ENST00000357943.5_Silent_p.A335A	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	378					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CAAAGAAAGCCATGTTGTCTG	0.498000			A		serous ovarian								13	36					0	0	0.001855	0	0
POLR3A	11128	broad.mit.edu	37	10	79762058	79762058	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:79762058G>A	ENST00000372371.3	-	17	2393	c.2256C>T	c.(2254-2256)atC>atT	p.I752I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	752					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTCCTTCAGGATCAGTGCCT	0.507000													4	4					0	0	0.000248	0	0
LTBP2	4053	broad.mit.edu	37	14	74995673	74995673	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:74995673G>A	ENST00000261978.4	-	11	2526	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L	LTBP2_ENST00000556690.1_Silent_p.L714L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	714	TB 2.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.L714L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGCCAGGCAGAGGGCATTTC	0.612000													7	9					0	0	0.006214	0	0
PRSS23	11098	broad.mit.edu	37	11	86519436	86519436	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:86519436G>A	ENST00000280258.5	+	2	1176	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.E219K	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	251					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGCCCTCCTGGAACTCAAAAA	0.493000													10	22					0	0	0.008291	0	0
OR2H1	26716	broad.mit.edu	37	6	29429651	29429651	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:29429651G>C	ENST00000377136.1	+	4	570	c.105G>C	c.(103-105)ttG>ttC	p.L35F	OR2H1_ENST00000377132.1_Missense_Mutation_p.L35F|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000442615.1_Missense_Mutation_p.L35F|OR2H1_ENST00000396792.2_Missense_Mutation_p.L35F|OR2H1_ENST00000377133.1_Missense_Mutation_p.L35F			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CCTACCTCTTGACCCTGGTGG	0.522000													40	84					0	0	0.007835	0	0
IMPA2	3613	broad.mit.edu	37	18	12028052	12028052	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:12028052G>A	ENST00000269159.3	+	6	743	c.501G>A	c.(499-501)aaG>aaA	p.K167K	IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	167					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	ATCTCTCAAAGGCCTTGGTTC	0.488000													10	67					0	0	0.001368	0	0
MYH6	4624	broad.mit.edu	37	14	23858140	23858140	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:23858140G>A	ENST00000405093.3	-	29	4173	c.4103C>T	c.(4102-4104)tCg>tTg	p.S1368L	MYH6_ENST00000356287.3_Missense_Mutation_p.S1368L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1368					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCCACCTCCGAGTTGGCCTT	0.632000													19	51					0	0	0.006122	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				31	16					0	0	0.002445	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629827	122629827	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:122629827G>A	ENST00000357599.3	-	22	3543	c.3157C>T	c.(3157-3159)Cta>Tta	p.L1053L	SEMA5B_ENST00000451055.2_Silent_p.L1107L|SEMA5B_ENST00000195173.4_3'UTR	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1053					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TACACTGCTAGGGTCAGGAGC	0.597000													11	9					0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34101975	34101975	+	Silent	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:34101975G>T	ENST00000373381.4	-	30	5130	c.4954C>A	c.(4954-4956)Cgg>Agg	p.R1652R	CSMD2_ENST00000373380.1_Silent_p.R525R|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1612	CUB 10.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGACTGGCCGGGGATTGTTC	0.657000													7	2					2.0095e-06	2.30328e-06	0.001984	1	0
RNF148	378925	broad.mit.edu	37	7	122342756	122342756	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:122342756C>T	ENST00000434824.1	-	1	265	c.49G>A	c.(49-51)Gga>Aga	p.G17R	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.G17R|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	17						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTCAAAAGTCCAGATGAAACA	0.388000													4	13					0	0	0.000602	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735889	41735889	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:41735889C>T	ENST00000352645.4	+	10	1143	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.P296S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	312					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.P296S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACCCGTGTTCCCCGGCGGGAC	0.662000													14	38					0	0	0.001855	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657291	34657291	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:34657291G>A	ENST00000314891.6	-	3	573	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	132					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TGGGGTCAAAGAAAGTGGAGT	0.567000													27	35					0	0	0.007291	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602567	18602567	+	RNA	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:18602567C>T	ENST00000546162.2	+	0	1141					NR_003569.1																						CTACCTTCCTCCTGGGGACCC	0.597000													27	33					0	0	0.006320	0	0
ASTN1	460	broad.mit.edu	37	1	176863806	176863806	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:176863806G>A	ENST00000367654.2	-	17	2869	c.2856C>T	c.(2854-2856)ccC>ccT	p.P952P	ASTN1_ENST00000424564.2_Silent_p.P944P|ASTN1_ENST00000367657.3_Silent_p.P944P|ASTN1_ENST00000361833.2_Silent_p.P944P			O14525	ASTN1_HUMAN	astrotactin 1	952					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATGACACAGGGGGCAGGACG	0.592000													33	44					0	0	0.002836	0	0
SEC16B	89866	broad.mit.edu	37	1	177937008	177937008	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:177937008G>A	ENST00000308284.6	-	2	198	c.109C>T	c.(109-111)Cct>Tct	p.P37S	SEC16B_ENST00000464631.1_Missense_Mutation_p.P37S|RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P37S	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	37	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAAGAGTGAGGGACAGGCCGA	0.617000													14	36					0	0	0.002450	0	0
PADI4	23569	broad.mit.edu	37	1	17681061	17681061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:17681061C>T	ENST00000375448.4	+	11	1215	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	397					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			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)	TCGAGGGCCCCAAACAGGGGG	0.572000													26	39					0	0	0.005443	0	0
PKP4	8502	broad.mit.edu	37	2	159490799	159490799	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:159490799C>T	ENST00000389757.3	+	9	1685	c.1560C>T	c.(1558-1560)ccC>ccT	p.P520P	PKP4_ENST00000389759.3_Silent_p.P520P	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	520					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGAAGGACCCCAGGCGAGTAC	0.463000										HNSCC(62;0.18)			31	54					0	0	0.001786	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411538	79411538	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:79411538C>T	ENST00000307745.7	+	11	2456	c.2456C>T	c.(2455-2457)cCc>cTc	p.P819L																								CACCCCCATCCCCCCTGGCTG	0.731000													3	4					0	0	0.004672	0	0
OR51G2	81282	broad.mit.edu	37	11	4936236	4936236	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:4936236G>A	ENST00000322013.3	-	1	686	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAGAGAAGAGGATGAGCAGT	0.517000													9	18					0	0	0.004482	0	0
SCN3A	6328	broad.mit.edu	37	2	165956896	165956896	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:165956896G>A	ENST00000360093.3	-	22	4373	c.3882C>T	c.(3880-3882)taC>taT	p.Y1294Y	SCN3A_ENST00000409101.3_Silent_p.Y1245Y|SCN3A_ENST00000283254.7_Silent_p.Y1294Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1294						voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CGAGTTCTGAGTAGCCAAGAG	0.393000													36	6					0	0	0.002836	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34024066	34024066	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:34024066C>T	ENST00000382065.3	-	5	1454	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	C1QTNF3_ENST00000513065.1_5'UTR|C1QTNF3_ENST00000231338.7_Missense_Mutation_p.E177K	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	177						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					ACATACACTTCCTCAACATCC	0.413000													15	41					0	0	0.008871	0	0
IGHG4	3503	broad.mit.edu	37	14	106091258	106091258	+	RNA	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:106091258G>A	ENST00000390543.2	-	0	635																											TGGTTTTCTCGATGGAGGACG	0.622000													62	217					0	0	0.003610	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264124	140264124	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:140264124G>T	ENST00000289272.2	+	1	2271	c.2271G>T	c.(2269-2271)agG>agT	p.R757S	PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R757S|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														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)			GGCGGCCGAGGGTGTGCTCTG	0.687000													24	33					9.95505e-16	1.17542e-15	0.002299	1	0
ZNF808	388558	broad.mit.edu	37	19	53058233	53058233	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:53058233C>T	ENST00000359798.4	+	5	2244	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAAGGCTTTCGTGTGTCGTT	0.423000													37	152					0	0	0.008740	0	0
RPS14	6208	broad.mit.edu	37	5	149826385	149826385	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:149826385G>A	ENST00000401695.3	-	3	337	c.291C>T	c.(289-291)ctC>ctT	p.L97L	RPS14_ENST00000312037.5_Silent_p.L97L|RPS14_ENST00000407193.1_Silent_p.L97L			P62263	RS14_HUMAN	ribosomal protein S14	97					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTGGCCCGGAGTTTGATGT	0.572000													20	39					0	0	0.002299	0	0
SAMD9	54809	broad.mit.edu	37	7	92733358	92733358	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:92733358G>A	ENST00000379958.2	-	3	2322	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	685						cytoplasm				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)			TTGCCACCTCGATAGAAGTCT	0.358000													25	130					0	0	0.003330	0	0
ZNF48	197407	broad.mit.edu	37	16	30409766	30409766	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:30409766C>T	ENST00000320159.2	+	2	1571	c.1195C>T	c.(1195-1197)Ccc>Tcc	p.P399S		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	399	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CGCTCTGATCCCCAGCCCACC	0.652000													12	15					0	0	0.000978	0	0
COL4A1	1282	broad.mit.edu	37	13	110850846	110850846	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:110850846G>A	ENST00000375820.4	-	21	1374	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	COL4A1_ENST00000543140.1_Missense_Mutation_p.S418F	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	418	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			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)			GGGCCCAGGGGAACCAGGAGG	0.592000													23	72					0	0	0.006320	0	0
TM9SF4	9777	broad.mit.edu	37	20	30730878	30730878	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:30730878G>A	ENST00000217315.5	+	6	911	c.571G>A	c.(571-573)Gag>Aag	p.E191K	TM9SF4_ENST00000398022.2_Missense_Mutation_p.E208K			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	208						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGTCCGCTTCGAGGTGATTCC	0.597000													15	54					0	0	0.004990	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622898	20622898	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:20622898G>A	ENST00000525748.1	+	2	500	c.227G>A	c.(226-228)gGa>gAa	p.G76E		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	76					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GAGCGGCCAGGAGTGGGGTCT	0.731000													5	2					0	0	0.001168	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692073	31692073	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:31692073C>T	ENST00000360542.3	-	1	534	c.281G>A	c.(280-282)gGa>gAa	p.G94E		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	94						intermediate filament		p.G94E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AAAACTGCTTCCTTGGCAAGG	0.557000													33	27					0	0	0.002836	0	0
SEC24A	10802	broad.mit.edu	37	5	134044530	134044530	+	Silent	SNP	T	T	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:134044530T>C	ENST00000398844.2	+	18	2967	c.2679T>C	c.(2677-2679)ccT>ccC	p.P893P		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	893					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATGGTTCCTTTTTCTTTGC	0.458000													3	71					0	0	0.004672	0	0
MICALCL	84953	broad.mit.edu	37	11	12316208	12316208	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:12316208C>G	ENST00000256186.2	+	3	1521	c.1230C>G	c.(1228-1230)ttC>ttG	p.F410L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	410					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTGAGAGTTTCCTCCAAGAAT	0.478000													29	52					0	0	0.001786	0	0
PDZD8	118987	broad.mit.edu	37	10	119043055	119043055	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:119043055C>T	ENST00000334464.5	-	5	3428	c.3189G>A	c.(3187-3189)gaG>gaA	p.E1063E		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1063					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATCAGTTGTCTCTTTTTCTT	0.378000													16	28					0	0	0.006122	0	0
HMCN1	83872	broad.mit.edu	37	1	185970530	185970530	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:185970530C>T	ENST00000271588.4	+	27	4399	c.4170C>T	c.(4168-4170)ccC>ccT	p.P1390P	HMCN1_ENST00000367492.2_Silent_p.P1390P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1390	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCCATCTCCCATCATTATGT	0.383000													11	25					0	0	0.008291	0	0
SLC29A2	3177	broad.mit.edu	37	11	66134020	66134020	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:66134020G>A	ENST00000357440.2	-	8	977	c.749C>T	c.(748-750)cCc>cTc	p.P250L	SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.P250L|SLC29A2_ENST00000544554.1_Missense_Mutation_p.P250L	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	250					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GGGACTACTGGGAATCCCGTT	0.587000													16	1					0	0	0.004007	0	0
OR2T12	127064	broad.mit.edu	37	1	248458365	248458365	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:248458365G>A	ENST00000317996.1	-	1	515	c.516C>T	c.(514-516)atC>atT	p.I172I		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGAAGTGATCGATCTCGTGTG	0.567000													45	27					0	0	0.003610	0	0
LTBP2	4053	broad.mit.edu	37	14	75018928	75018928	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:75018928T>C	ENST00000261978.4	-	6	1747	c.1361A>G	c.(1360-1362)aAg>aGg	p.K454R	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.K454R|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	454					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTGGACTGCTTCAGTGGGGC	0.682000													7	21					0	0	0.001984	0	0
RTP1	132112	broad.mit.edu	37	3	186915444	186915444	+	Silent	SNP	G	G	A	rs141573394		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:186915444G>A	ENST00000312295.4	+	1	171	c.141G>A	c.(139-141)aaG>aaA	p.K47K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	47					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ATGAGTGGAAGAAAGTCTTCT	0.517000													22	19					0	0	0.001523	0	0
SLC15A1	6564	broad.mit.edu	37	13	99376274	99376274	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:99376274G>A	ENST00000376503.5	-	5	312	c.257C>T	c.(256-258)tCg>tTg	p.S86L		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	86					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AATGGAGAGCGACACAATGGT	0.473000													16	38					0	0	0.006122	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102756	13102756	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:13102756G>A	ENST00000228887.1	-	1	562	c.563C>T	c.(562-564)tCc>tTc	p.S188F	RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.S188F|RP11-392P7.6_ENST00000536029.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	188						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GGTGGCTTTGGAGACGAAGAA	0.498000													15	21					0	0	0.004007	0	0
GBP1P1	400759	broad.mit.edu	37	1	89886727	89886727	+	RNA	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:89886727C>T	ENST00000513638.1	+	0	505					NR_003133.2																						AACCATTAACCAGCAGGCCAT	0.517000													5	25					0	0	0.000602	0	0
CPZ	8532	broad.mit.edu	37	4	8608525	8608525	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:8608525G>A	ENST00000382480.2	+	6	1357	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	CPZ_ENST00000360986.4_Missense_Mutation_p.R323Q|CPZ_ENST00000315782.6_Missense_Mutation_p.R312Q|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	323					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATCTGAACCGAAATTTCCCG	0.647000													16	36					0	0	0.004990	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656931	46656931	+	Silent	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:46656931G>T	ENST00000253255.5	-	1	2288	c.2289C>A	c.(2287-2289)acC>acA	p.T763T		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	763	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGGGTTTCTGGGTTAATTTGG	0.433000													21	38					2.27731e-05	2.60011e-05	0.001882	1	0
KMT2D	8085	broad.mit.edu	37	12	49421849	49421849	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:49421849G>A	ENST00000301067.7	-	46	14457	c.14458C>T	c.(14458-14460)Cca>Tca	p.P4820S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGCTCTCTGGGAACAGCACC	0.617000													17	11					0	0	0.004007	0	0
CACNA2D1	781	broad.mit.edu	37	7	81626554	81626554	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:81626554G>T	ENST00000356860.3	-	19	1941	c.1603C>A	c.(1603-1605)Cag>Aag	p.Q535K	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q554K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	554	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ACTGGCTCCTGAGATTTGGGG	0.343000													32	99					1.90571e-15	2.2456e-15	0.004289	1	0
SCFD1	23256	broad.mit.edu	37	14	31107426	31107426	+	Silent	SNP	A	A	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:31107426A>T	ENST00000458591.2	+	5	635	c.408A>T	c.(406-408)gcA>gcT	p.A136A	SCFD1_ENST00000421551.3_Silent_p.A77A|SCFD1_ENST00000396629.2_Silent_p.A44A|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000544052.2_Silent_p.A69A	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	136				AA -> EL (in Ref. 2; AAD40381).	post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGCGTTAGCAGCTAGTGCAG	0.348000													10	18					0	0	0.001368	0	0
TRIM42	287015	broad.mit.edu	37	3	140397412	140397412	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:140397412C>T	ENST00000286349.3	+	1	532	c.341_splice	c.e1+1	p.S114_splice		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	114						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCCATACCTCGTAAGTGCCA	0.562000													7	11					0	0	0.001984	0	0
COL12A1	1303	broad.mit.edu	37	6	75884949	75884949	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:75884949C>T	ENST00000322507.8	-	13	2824	c.2515G>A	c.(2515-2517)Gga>Aga	p.G839R	COL12A1_ENST00000483888.2_Missense_Mutation_p.G839R|COL12A1_ENST00000416123.2_Missense_Mutation_p.G839R|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	839	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCACTTTTCCTGGTGCCCCA	0.458000													36	52					0	0	0.003755	0	0
MLH3	27030	broad.mit.edu	37	14	75513677	75513677	+	Silent	SNP	A	A	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:75513677A>G	ENST00000355774.2	-	2	2897	c.2682T>C	c.(2680-2682)agT>agC	p.S894S	MLH3_ENST00000556257.1_Silent_p.S894S|MLH3_ENST00000556740.1_Silent_p.S894S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000238662.7_Silent_p.S894S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	894					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CATTAAAACGACTCATCATCC	0.378000								Mismatch excision repair (MMR)					38	101					0	0	0.006230	0	0
DOCK2	1794	broad.mit.edu	37	5	169141072	169141072	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:169141072C>A	ENST00000256935.8	+	18	1780	c.1700C>A	c.(1699-1701)aCc>aAc	p.T567N	DOCK2_ENST00000520908.1_Missense_Mutation_p.T59N|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	567	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCATACCTGACCCTTCCTTCT	0.572000													17	50					1.2644e-06	1.45209e-06	0.001523	1	0
SLC15A1	6564	broad.mit.edu	37	13	99361881	99361881	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr13:99361881G>A	ENST00000376503.5	-	14	1067	c.1012C>T	c.(1012-1014)Ccg>Tcg	p.P338S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	338					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TCGAAGATCGGGACCATGATC	0.512000													13	25					0	0	0.002450	0	0
SGSM1	129049	broad.mit.edu	37	22	25264409	25264409	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:25264409C>T	ENST00000400358.4	+	11	1118	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	SGSM1_ENST00000400359.4_Missense_Mutation_p.P354L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	354						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTCCGCTTCCCCAAGGGCGGG	0.657000													19	46					0	0	0.007413	0	0
FAT2	2196	broad.mit.edu	37	5	150925305	150925305	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:150925305C>T	ENST00000261800.5	-	9	5395	c.5383G>A	c.(5383-5385)Gaa>Aaa	p.E1795K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1795	Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTAGCTTCTTTGTCACTG	0.408000													15	41					0	0	0.003163	0	0
DNAH2	146754	broad.mit.edu	37	17	7699862	7699862	+	Silent	SNP	G	G	A	rs142996833		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:7699862G>A	ENST00000572933.1	+	50	9215	c.7755G>A	c.(7753-7755)ggG>ggA	p.G2585G	DNAH2_ENST00000389173.2_Silent_p.G2585G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2585	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCCATTGGGAACGTGGTGA	0.532000													9	24					0	0	0.008291	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116060094	116060094	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:116060094G>A	ENST00000369271.3	-	15	2116	c.1816C>T	c.(1816-1818)Cct>Tct	p.P606S	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.P606S|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P659S	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	606					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTCAGGGAAGGATCCTCTGGC	0.607000													41	66					0	0	0.002852	0	0
AGPAT9	84803	broad.mit.edu	37	4	84519860	84519860	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:84519860C>T	ENST00000395226.2	+	12	1407	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L	AGPAT9_ENST00000264409.4_Silent_p.L397L|AGPAT9_ENST00000509044.1_3'UTR	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	397					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				ACAAGGAGGCCTGACTGAACT	0.313000													8	40					0	0	0.006214	0	0
ZNF135	7694	broad.mit.edu	37	19	58579197	58579197	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:58579197C>T	ENST00000506786.1	+	5	1773	c.1219C>T	c.(1219-1221)Cac>Tac	p.H407Y	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000401053.4_Missense_Mutation_p.H473Y|ZNF135_ENST00000313434.5_Missense_Mutation_p.H449Y|ZNF135_ENST00000511556.1_Missense_Mutation_p.H461Y|ZNF135_ENST00000439855.2_Missense_Mutation_p.H449Y			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	461					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AACCTTCAGCCACAGCTCCTC	0.567000													9	27					0	0	0.004482	0	0
CPM	1368	broad.mit.edu	37	12	69265724	69265724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:69265724C>A	ENST00000551568.1	-	4	331	c.271G>T	c.(271-273)Gag>Tag	p.E91*	CPM_ENST00000338356.3_Nonsense_Mutation_p.E91*|CPM_ENST00000546373.1_Nonsense_Mutation_p.E91*	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	91					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGCAGCAGCTCCCGCCCAACA	0.448000													16	37					0.000308642	0.000351028	0.003163	1	0
MUC16	94025	broad.mit.edu	37	19	9085016	9085016	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9085016G>A	ENST00000397910.4	-	1	7002	c.6799C>T	c.(6799-6801)Cca>Tca	p.P2267S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2267	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTTTTCTGGGAAATGTGAG	0.433000													7	28					0	0	0.001984	0	0
HGD	3081	broad.mit.edu	37	3	120352077	120352077	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:120352077T>C	ENST00000283871.5	-	13	1564	c.1105A>G	c.(1105-1107)Acc>Gcc	p.T369A		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	369					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCATGGGGGGTCATTGTGCTG	0.547000													3	69					0	0	0.004672	0	0
C3P1	388503	broad.mit.edu	37	19	10169315	10169315	+	RNA	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:10169315G>A	ENST00000495140.1	+	0	1867																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						ATGAGGGAAAGGAGTTGTGCA	0.552000													15	36					0	0	0.002450	0	0
CNKSR1	10256	broad.mit.edu	37	1	26506951	26506951	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:26506951C>A	ENST00000361530.6	+	2	205	c.60C>A	c.(58-60)gaC>gaA	p.D20E	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.D20E|CNKSR1_ENST00000480348.2_3'UTR			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	20	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTCTTGACGACTCCCTGC	0.582000													18	60					1.00905e-13	1.18664e-13	0.008871	1	0
LAMB3	3914	broad.mit.edu	37	1	209807876	209807876	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:209807876G>A	ENST00000391911.1	-	5	869	c.480C>T	c.(478-480)gtC>gtT	p.V160V	LAMB3_ENST00000356082.4_Silent_p.V160V|LAMB3_ENST00000367030.3_Silent_p.V160V	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	160	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GACCCTGGCGGACCCGAGGGA	0.627000													10	29					0	0	0.000978	0	0
FLNC	2318	broad.mit.edu	37	7	128482973	128482973	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:128482973G>A	ENST00000325888.8	+	16	2776	c.2515G>A	c.(2515-2517)Ggc>Agc	p.G839S	FLNC_ENST00000346177.6_Missense_Mutation_p.G839S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	839					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCAGGGGCGGGCCGCTACAC	0.592000													4	34					0	0	0.001168	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627062	140627062	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:140627062G>A	ENST00000231173.3	+	1	1916	c.1916G>A	c.(1915-1917)aGg>aAg	p.R639K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		639	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			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)			GCCAAGCACAGGCTAGTGGTG	0.692000													29	46					0	0	0.006320	0	0
UTRN	7402	broad.mit.edu	37	6	144780119	144780119	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:144780119C>T	ENST00000367545.3	+	19	2498	c.2498C>T	c.(2497-2499)tCc>tTc	p.S833F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	833	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCCCGGCAGTCCTTGCCAAGC	0.453000													11	18					0	0	0.000978	0	0
CYP3A4	1576	broad.mit.edu	37	7	99355805	99355805	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:99355805G>A	ENST00000354593.2	-	8	1116	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	CYP3A4_ENST00000336411.2_Missense_Mutation_p.P488L			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	488					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TAGAACAACGGGTTTTTCTGG	0.408000													48	28					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104144483	104144483	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:104144483G>A	ENST00000388887.2	+	60	6769	c.6565G>A	c.(6565-6567)Gac>Aac	p.D2189N	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2189					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			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						CAAATGTGTCGACCTCCACTT	0.562000													8	21					0	0	0.003080	0	0
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:102213947A>T	ENST00000520347.1	-	2	2979	c.23T>A	c.(22-24)aTt>aAt	p.I8N	ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	8						intracellular	zinc ion binding			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393000													7	34					0	0	0.006214	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55046941	55046941	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:55046941C>T	ENST00000335056.3	+	4	524	c.486C>T	c.(484-486)tcC>tcT	p.S162S	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TACAGCATTCCCAGCAGCTTG	0.552000													17	18					0	0	0.004990	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42285024	42285024	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:42285024C>T	ENST00000399518.3	-	13	1867	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E432K	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	449	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CGGAGCTCCTCCTGGAATTTG	0.582000													11	40					0	0	0.001855	0	0
OR6K2	81448	broad.mit.edu	37	1	158670440	158670440	+	Translation_Start_Site	SNP	C	C	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:158670440C>A	ENST00000359610.2	-	1	46	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGGGCTCTCCATCTCCAAGT	0.448000													14	35					0.000422831	0.000479971	0.004007	1	0
MED12L	116931	broad.mit.edu	37	3	151082983	151082983	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:151082983G>A	ENST00000474524.1	+	20	3107	c.3069G>A	c.(3067-3069)caG>caA	p.Q1023Q	MED12L_ENST00000273432.4_Silent_p.Q883Q|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1023					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				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)			TGGGCCATCAGGATGCTGGCA	0.458000													19	31					0	0	0.006122	0	0
SYMPK	8189	broad.mit.edu	37	19	46324687	46324687	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:46324687G>C	ENST00000245934.7	-	22	3092	c.2848C>G	c.(2848-2850)Cac>Gac	p.H950D	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	950					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCAATGTTGTGTAATGCGATC	0.617000													33	30					0	0	0.004289	0	0
DSC2	1824	broad.mit.edu	37	18	28651688	28651688	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:28651688C>T	ENST00000280904.6	-	13	2451	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	DSC2_ENST00000251081.6_Missense_Mutation_p.D670N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	670	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTAATGCAGTCACACAGTGTA	0.443000													4	8					0	0	0.000248	0	0
RGS14	10636	broad.mit.edu	37	5	176799073	176799073	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:176799073C>T	ENST00000408923.3	+	15	1886	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	566					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCAGCCCTCTGACAGCTAC	0.652000													34	68					0	0	0.002445	0	0
CCR10	2826	broad.mit.edu	37	17	40831617	40831617	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:40831617G>A	ENST00000591765.1	-	2	1762	c.377C>T	c.(376-378)tCc>tTc	p.S126F	CCR10_ENST00000332438.4_Missense_Mutation_p.S348F			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	348						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		AGCTGAGCAGGAAGAAAggcg	0.697000													15	32					0	0	0.002450	0	0
STXBP4	252983	broad.mit.edu	37	17	53084924	53084924	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:53084924C>T	ENST00000376352.2	+	8	839	c.632C>T	c.(631-633)cCc>cTc	p.P211L	STXBP4_ENST00000299341.4_Missense_Mutation_p.P136L|STXBP4_ENST00000434978.2_Missense_Mutation_p.P211L|STXBP4_ENST00000398391.2_Missense_Mutation_p.P136L|STXBP4_ENST00000405898.1_Missense_Mutation_p.P211L	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	211						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TCCCTAAATCCCTCTGTTCGC	0.368000													97	230					0	0	0.003610	0	0
TRIM42	287015	broad.mit.edu	37	3	140407150	140407150	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:140407150C>T	ENST00000286349.3	+	3	1817	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	542						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGTTGTCCTTCAGCAACACTG	0.577000													13	18					0	0	0.001368	0	0
ICAM1	3383	broad.mit.edu	37	19	10394750	10394750	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:10394750C>T	ENST00000264832.3	+	4	1004	c.679C>T	c.(679-681)Cta>Tta	p.L227L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	227					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCCCCGGGTCCTAGAGGTGGA	0.637000													19	69					0	0	0.006122	0	0
GJC2	57165	broad.mit.edu	37	1	228345525	228345525	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:228345525C>T	ENST00000366714.2	+	2	241	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	22					cell death	connexon complex|integral to membrane		p.F22F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				ACTCCACCTTCGTGGGCAAGG	0.652000													5	8					0	0	0.000602	0	0
NLRP3	114548	broad.mit.edu	37	1	247592992	247592992	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:247592992G>A	ENST00000366497.2	+	5	3042	c.2262G>A	c.(2260-2262)ggG>ggA	p.G754G	NLRP3_ENST00000336119.3_Silent_p.G754G|NLRP3_ENST00000391828.3_Silent_p.G754G|NLRP3_ENST00000366496.2_Silent_p.G754G|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Intron	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	811					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			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)			ATTCTCTGGGGGACCCAGGGA	0.522000													38	25					0	0	0.005524	0	0
POT1	25913	broad.mit.edu	37	7	124532343	124532343	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:124532343G>A	ENST00000357628.3	-	6	699	c.101C>T	c.(100-102)cCc>cTc	p.P34L	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	34	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TAGATATGGGGGCTTAAAGAA	0.378000													54	171					0	0	0.003610	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465457	77465457	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:77465457G>A	ENST00000282849.5	-	3	648	c.230C>T	c.(229-231)tCa>tTa	p.S77L	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	77					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AATGTCGTGTGAAATATATGA	0.488000													71	75					0	0	0.003610	0	0
PRPF6	24148	broad.mit.edu	37	20	62658476	62658476	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:62658476A>G	ENST00000535781.1	+	15	2161	c.2050A>G	c.(2050-2052)Atg>Gtg	p.M684V	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	724					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GCAGAAGGAGATGATGGAGAA	0.607000													11	42					0	0	0.000978	0	0
OR2C1	4993	broad.mit.edu	37	16	3406485	3406485	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:3406485C>T	ENST00000304936.2	+	1	597	c.545C>T	c.(544-546)cCt>cTt	p.P182L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCGAGGTGCCTGCCATGATC	0.567000													19	30					0	0	0.008871	0	0
NACA	4666	broad.mit.edu	37	12	57111583	57111583	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:57111583G>A	ENST00000454682.1	-	3	4012	c.3731C>T	c.(3730-3732)cCa>cTa	p.P1244L	NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGTTGCAGCTGGGGTTGTGGG	0.662000			T	BCL6	NHL								28	65					0	0	0.002096	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767910	77767910	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:77767910C>T	ENST00000521891.2	+	10	9201	c.8753C>T	c.(8752-8754)cCc>cTc	p.P2918L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2892L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2873L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2873L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			TCCAGCAATCCCTTTAAATCC	0.498000										HNSCC(33;0.089)			13	13					0	0	0.001368	0	0
SCUBE1	80274	broad.mit.edu	37	22	43735192	43735192	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:43735192G>A	ENST00000360835.3	-	2	264	c.138C>T	c.(136-138)atC>atT	p.I46I	SCUBE1_ENST00000290460.7_Silent_p.I46I	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	46	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGATGGCATCGATGTGGCAGT	0.597000													19	38					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9000160	9000160	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9000160G>A	ENST00000397910.4	-	55	40800	c.40597C>T	c.(40597-40599)Ctg>Ttg	p.L13533L	MUC16_ENST00000380951.5_Silent_p.L174L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13535	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCAAGGTCAGTCTGCAGCCA	0.562000													16	42					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9064451	9064451	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9064451G>A	ENST00000397910.4	-	3	23198	c.22995C>T	c.(22993-22995)tcC>tcT	p.S7665S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7667	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGCCCATGGAAGTGGTCA	0.522000													38	21					0	0	0.004878	0	0
TNN	63923	broad.mit.edu	37	1	175066798	175066798	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:175066798G>A	ENST00000239462.4	+	8	1947	c.1834G>A	c.(1834-1836)Gct>Act	p.A612T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	612	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGCAAGAAGGCTGACACCAA	0.532000													27	20					0	0	0.003954	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105462511	105462511	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:105462511C>T	ENST00000258494.9	-	4	720	c.580G>A	c.(580-582)Gga>Aga	p.G194R	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.G194R	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	194	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCCTTGATTCCTTCAGGAAAA	0.343000													23	21					0	0	0.005443	0	0
KCNH5	27133	broad.mit.edu	37	14	63269135	63269135	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr14:63269135G>A	ENST00000322893.7	-	9	2002	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	KCNH5_ENST00000394968.1_Silent_p.Y520Y|KCNH5_ENST00000420622.2_Silent_p.Y578Y	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	578					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCCAGCATGGTAAATGAGGT	0.512000													17	31					0	0	0.006122	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656980	46656980	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:46656980C>A	ENST00000253255.5	-	1	2239	c.2240G>T	c.(2239-2241)aGc>aTc	p.S747I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	747	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TACCAAAGTGCTTACAGGAAG	0.433000													16	49					2.35188e-11	2.73302e-11	0.006122	1	0
NLGN3	54413	broad.mit.edu	37	X	70389910	70389910	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:70389910C>T	ENST00000374051.3	+	7	2772	c.2450C>T	c.(2449-2451)aCc>aTc	p.T817I	NLGN3_ENST00000358741.3_Missense_Mutation_p.T837I|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.T797I	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	837					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TTCAACAGTACCGGGCTGCCC	0.577000													8	9					0	0	0.006214	0	0
MARCH7	64844	broad.mit.edu	37	2	160604791	160604791	+	Silent	SNP	A	A	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:160604791A>G	ENST00000259050.3	+	5	1112	c.990A>G	c.(988-990)gtA>gtG	p.V330V	MARCH7_ENST00000409175.1_Silent_p.V330V|MARCH7_ENST00000539065.1_Silent_p.V274V|MARCH7_ENST00000409591.1_Silent_p.V292V	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	330	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTAGTAATGTACCATCAGCTT	0.413000													16	27					0	0	0.004990	0	0
CIB2	10518	broad.mit.edu	37	15	78397660	78397660	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:78397660C>T	ENST00000258930.3	-	6	885	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	CIB2_ENST00000539011.1_Missense_Mutation_p.R143Q|CIB2_ENST00000557846.1_Missense_Mutation_p.R137Q	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	186							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TCCTCAGATCCGGATGTGGAA	0.602000													9	24					0	0	0.006214	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933583	31933583	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:31933583C>T	ENST00000334849.2	-	1	50	c.26G>A	c.(25-27)gGa>gAa	p.G9E		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	9						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GCCTAGGCCTCCATAGTAGCT	0.522000													35	7					0	0	0.004289	0	0
WDR6	11180	broad.mit.edu	37	3	49049481	49049481	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:49049481G>A	ENST00000395474.3	+	2	884	c.604G>A	c.(604-606)Gag>Aag	p.E202K	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000448293.1_Missense_Mutation_p.E121K|WDR6_ENST00000415265.2_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	172					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CGCCTGGAAGGAGCTGACCAT	0.557000													10	10					0	0	0.001368	0	0
VSX1	30813	broad.mit.edu	37	20	25059464	25059464	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:25059464C>T	ENST00000376707.3	-	3	662	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	VSX1_ENST00000429762.3_Splice_Site|VSX1_ENST00000444511.2_Splice_Site|VSX1_ENST00000424574.1_Splice_Site|VSX1_ENST00000451258.1_Splice_Site|VSX1_ENST00000376709.4_Splice_Site	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	210					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						ACCCCAGACACCTGTATCCGG	0.532000													40	123					0	0	0.007835	0	0
EPHB2	2048	broad.mit.edu	37	1	23111152	23111152	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:23111152G>A	ENST00000400191.3	+	3	412	c.394G>A	c.(394-396)Gag>Aag	p.E132K	EPHB2_ENST00000544305.1_Missense_Mutation_p.E132K|EPHB2_ENST00000374627.1_Missense_Mutation_p.E126K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E132K|EPHB2_ENST00000374630.3_Missense_Mutation_p.E132K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	132					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAACTGGATGGAGAATCCATG	0.572000													7	22					0	0	0.004482	0	0
ZNF559	84527	broad.mit.edu	37	19	9451892	9451892	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:9451892C>T	ENST00000592504.1	+	6	530	c.275C>T	c.(274-276)tCc>tTc	p.S92F	ZNF559_ENST00000585352.1_Intron|ZNF559_ENST00000587557.1_Intron|ZNF559_ENST00000592896.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Intron|ZNF559_ENST00000393883.2_Intron|ZNF559_ENST00000317221.7_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron			Q9BR84	ZN559_HUMAN	zinc finger protein 559	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTATTGTCTTCCATGTTAGAG	0.363000													7	30					0	0	0.003080	0	0
LAMA2	3908	broad.mit.edu	37	6	129465130	129465130	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:129465130C>T	ENST00000421865.2	+	5	773	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	242	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R242C(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)		TCGCTATATTCGCCTGAGATT	0.433000													11	11					0	0	0.000978	0	0
STK31	56164	broad.mit.edu	37	7	23808778	23808778	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:23808778C>T	ENST00000354639.3	+	12	1976	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	STK31_ENST00000355870.3_Silent_p.F527F|STK31_ENST00000428484.1_Silent_p.F504F|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.F527F	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	527							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			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						TAGCATGGTTCCAAAGAACCT	0.388000													41	17					0	0	0.007835	0	0
ARIH2OS	646450	broad.mit.edu	37	3	48956273	48956273	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:48956273C>T	ENST00000408959.2	-	1	545	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	ARIH2_ENST00000356401.4_5'UTR|ARIH2_ENST00000449376.1_5'UTR|ARIH2_ENST00000490095.1_3'UTR	NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		CCAAGCACTTCCGGAGCTGTG	0.711000													7	6					0	0	0.004482	0	0
SPG11	80208	broad.mit.edu	37	15	44864950	44864950	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:44864950C>T	ENST00000261866.7	-	33	6290	c.6274G>A	c.(6274-6276)Gac>Aac	p.D2092N	SPG11_ENST00000427534.2_Missense_Mutation_p.D2092N|SPG11_ENST00000535302.2_Missense_Mutation_p.D1979N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2092					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AATGTGCGGTCTTGACACAGA	0.448000													16	62					0	0	0.004007	0	0
NDST4	64579	broad.mit.edu	37	4	115856487	115856487	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:115856487G>A	ENST00000264363.2	-	6	2089	c.1411C>T	c.(1411-1413)Ctc>Ttc	p.L471F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	471	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTCGAGGGAGGACCTGAGTA	0.398000													5	29					0	0	0.000602	0	0
KDM6B	23135	broad.mit.edu	37	17	7755504	7755504	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:7755504A>G	ENST00000254846.5	+	19	4707	c.4318A>G	c.(4318-4320)Atc>Gtc	p.I1440V	KDM6B_ENST00000448097.2_Missense_Mutation_p.I1440V	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1440	JmjC.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGGTGGCCAATCCTGGATGA	0.622000											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	25					0	0	0.002780	0	0
TYW1B	441250	broad.mit.edu	37	7	72209518	72209518	+	RNA	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:72209518G>A	ENST00000438125.1	-	0	637							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCCATGCAGCGATGGCTCTCA	0.413000													15	48					0	0	0.002450	0	0
CDH2	1000	broad.mit.edu	37	18	25565588	25565588	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:25565588C>T	ENST00000269141.3	-	12	2302	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	CDH2_ENST00000399380.3_Missense_Mutation_p.D596N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	627	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGTCATAATCAAGTGCTGTA	0.383000													14	49					0	0	0.002450	0	0
SLC7A11	23657	broad.mit.edu	37	4	139100447	139100447	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:139100447G>A	ENST00000280612.5	-	11	1647	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	456					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CAGTCAGAGTGATGACGAAGC	0.433000													15	29					0	0	0.003163	0	0
PVRL2	5819	broad.mit.edu	37	19	45377707	45377707	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:45377707C>T	ENST00000252483.5	+	5	1014	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	PVRL2_ENST00000252485.4_Silent_p.G338G	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	338	Ig-like C2-type 2.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGGCATGGGCCGCGCTGAGC	0.632000													60	260					0	0	0.003610	0	0
AMER3	205147	broad.mit.edu	37	2	131520495	131520495	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:131520495C>T	ENST00000423981.1	+	2	960	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	AMER3_ENST00000321420.4_Missense_Mutation_p.P284S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GAGCAAGGTTCCCAGGGGCCC	0.637000													51	2					0	0	0.003610	0	0
C1orf159	54991	broad.mit.edu	37	1	1019489	1019489	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:1019489G>A	ENST00000448924.1	-	10	1285	c.854C>T	c.(853-855)tCc>tTc	p.S285F	C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379320.1_Missense_Mutation_p.S249F|C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000379339.1_Missense_Mutation_p.S285F|C1orf159_ENST00000294576.5_Missense_Mutation_p.S249F			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	285	Pro-rich.					integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AAAGAGCATGGAAGTCACGGG	0.642000													8	21					0	0	0.003080	0	0
FMO2	2327	broad.mit.edu	37	1	171174596	171174596	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:171174596C>T	ENST00000441535.1	+	7	1123	c.1006C>T	c.(1006-1008)Ccc>Tcc	p.P336S	FMO2_ENST00000209929.7_Missense_Mutation_p.P336S|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	336					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTCTCTTTTCCCTTCCTTGA	0.413000													12	18					0	0	0.001855	0	0
PDZD2	23037	broad.mit.edu	37	5	32088673	32088673	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:32088673G>A	ENST00000438447.1	+	20	5507	c.5119G>A	c.(5119-5121)Gaa>Aaa	p.E1707K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1707K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1707					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCAGCCATGGAAAACAGTCC	0.512000													12	51					0	0	0.000978	0	0
CPT1C	126129	broad.mit.edu	37	19	50216759	50216759	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:50216759G>A	ENST00000392518.4	+	20	2681	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	CPT1C_ENST00000323446.5_Missense_Mutation_p.R770H|CPT1C_ENST00000598293.1_Missense_Mutation_p.R770H|CPT1C_ENST00000405931.2_Missense_Mutation_p.R759H|CPT1C_ENST00000354199.5_Missense_Mutation_p.R681H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	770					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CATTTTAAGCGCCGGTTCAGA	0.597000													30	86					0	0	0.008361	0	0
CACNA1B	774	broad.mit.edu	37	9	140846797	140846797	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:140846797C>T	ENST00000371372.1	+	7	1183	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	CACNA1B_ENST00000371363.1_Silent_p.F346F|CACNA1B_ENST00000277551.2_Silent_p.F346F|CACNA1B_ENST00000371355.4_Silent_p.F346F|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Silent_p.F346F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	346					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCTCCTTCTTCATGCTCAACC	0.587000													19	17					0	0	0.002299	0	0
COL19A1	1310	broad.mit.edu	37	6	70886412	70886412	+	Splice_Site	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:70886412G>A	ENST00000322773.4	+	42	2725	c.2622_splice	c.e42-1	p.G875_splice	COL19A1_ENST00000393344.1_Splice_Site_p.G497_splice	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	875	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATCCCAACAGGGAGATCGAGG	0.383000													15	2					0	0	0.004007	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559170	1559170	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:1559170C>T	ENST00000381605.4	-	2	311	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.E83K|SIRPB1_ENST00000262929.5_Missense_Mutation_p.E82K|SIRPB1_ENST00000381603.3_Missense_Mutation_p.E83K	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	83	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AAGTGGCCTTCTTTCTGATTG	0.527000													64	82					0	0	0.003610	0	0
NCOR2	9612	broad.mit.edu	37	12	124819812	124819812	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:124819812C>T	ENST00000356219.3	-	41	6456	c.6301G>A	c.(6301-6303)Ggc>Agc	p.G2101S	NCOR2_ENST00000405201.1_Missense_Mutation_p.G2094S|NCOR2_ENST00000397355.1_Missense_Mutation_p.G2085S|NCOR2_ENST00000404621.1_Missense_Mutation_p.G2084S|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1655S|NCOR2_ENST00000429285.2_Missense_Mutation_p.G2084S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2105					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCTCCCCGCCAAGCTTCACG	0.706000													4	12					0	0	0.000248	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143569	61143569	+	RNA	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:61143569G>A	ENST00000475015.1	-	0	769				C20orf166-AS1_ENST00000412495.1_RNA																							ACATCCCTAGGGGATTGGGAT	0.647000													11	35					0	0	0.000978	0	0
C1orf127	148345	broad.mit.edu	37	1	11008794	11008794	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:11008794G>A	ENST00000377004.4	-	12	1397	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P	C1orf127_ENST00000377008.4_Silent_p.P299P	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	317										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CTTCCCCTGGGGGAGGCTGGG	0.647000													20	77					0	0	0.001523	0	0
TOP2B	7155	broad.mit.edu	37	3	25686832	25686832	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:25686832G>A	ENST00000435706.2	-	2	385	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	TOP2B_ENST00000264331.4_Missense_Mutation_p.R67C			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	67					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTATCAGGACGAAGAAGAATG	0.343000													23	38					0	0	0.004656	0	0
MYOM3	127294	broad.mit.edu	37	1	24408647	24408647	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:24408647G>A	ENST00000330966.7	-	18	2289	c.2127C>T	c.(2125-2127)ctC>ctT	p.L709L	MYOM3_ENST00000374434.3_Silent_p.L708L|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.L708L|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	708	Fibronectin type-III 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CGCAGTTCAGGAGGGCAAAGC	0.597000													11	7					0	0	0.008291	0	0
KATNAL2	83473	broad.mit.edu	37	18	44625668	44625668	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr18:44625668C>T	ENST00000245121.5	+	13	1244	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	KATNAL2_ENST00000356157.7_Silent_p.L422L	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	422						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGGTCGATCTCCCCAGCCGGG	0.592000													14	46					0	0	0.002450	0	0
DTX2	113878	broad.mit.edu	37	7	76126703	76126703	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:76126703C>T	ENST00000324432.5	+	7	1569	c.1059C>T	c.(1057-1059)agC>agT	p.S353S	DTX2_ENST00000446820.2_Intron|DTX2_ENST00000430490.2_Silent_p.S353S|DTX2_ENST00000446600.1_Silent_p.S262S|DTX2_ENST00000413936.2_Silent_p.S353S|DTX2_ENST00000307569.8_Intron	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	353					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGTGTCTTAGCCGCGCACCCC	0.552000													9	121					0	0	0.006122	0	0
STK32A	202374	broad.mit.edu	37	5	146752852	146752852	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:146752852C>T	ENST00000397936.3	+	10	1231	c.898C>T	c.(898-900)Cct>Tct	p.P300S	STK32A_ENST00000398523.3_Missense_Mutation_p.P300S	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	300							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTTTCATTCCTAATGTGAG	0.413000													20	24					0	0	0.007413	0	0
GIMAP1	170575	broad.mit.edu	37	7	150416140	150416140	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:150416140G>A	ENST00000307194.5	+	2	145	c.5G>A	c.(4-6)gGa>gAa	p.G2E		NM_130759.3	NP_570115.1			GTPase, IMAP family member 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)		GTAAGCATGGGAGGAAGGAAG	0.413000													11	38					0	0	0.001368	0	0
IGLV11-55	28770	broad.mit.edu	37	22	22556283	22556283	+	RNA	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:22556283C>T	ENST00000390286.2	+	0	109																											GTCTGCATCCCCGGGAGCAAC	0.622000											OREG0026354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	22					0	0	0.001368	0	0
ABCF3	55324	broad.mit.edu	37	3	183908981	183908981	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:183908981C>T	ENST00000429586.2	+	16	1692	c.1507C>T	c.(1507-1509)Ccg>Tcg	p.P503S	ABCF3_ENST00000292808.5_Missense_Mutation_p.P497S|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	503	ABC transporter 2.		P -> L (in dbSNP:rs11706273).				ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTACTACGATCCGAAGCACGT	0.552000													43	56					0	0	0.003214	0	0
NXPE2	120406	broad.mit.edu	37	11	114569394	114569394	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:114569394T>C	ENST00000375475.5	+	3	858	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	NXPE2_ENST00000389586.4_Missense_Mutation_p.Y254H					neurexophilin and PC-esterase domain family, member 2																		AGAAGCCTTCTACTGTGTGAG	0.468000													8	9					0	0	0.003080	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276851	47276851	+	Nonsense_Mutation	SNP	G	G	A	rs112395788		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:47276851G>A	ENST00000271153.4	+	3	398	c.362G>A	c.(361-363)tGg>tAg	p.W121*	CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371919.4_Intron|CYP4B1_ENST00000371923.4_Nonsense_Mutation_p.W121*			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	121					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTCCTCCAGTGGATTGGTGAG	0.567000													12	39					0	0	0.002450	0	0
FRRS1	391059	broad.mit.edu	37	1	100185185	100185185	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:100185185G>A	ENST00000414213.1	-	10	1626	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	FRRS1_ENST00000287474.5_Missense_Mutation_p.S342F			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	342	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGGTTGCTGAGAGTGCTTGTA	0.368000													11	23					0	0	0.001368	0	0
TMEM132E	124842	broad.mit.edu	37	17	32957127	32957127	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:32957127C>T	ENST00000321639.5	+	6	1497	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	390						integral to membrane				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)		CTGGACATCTCCGCCCTAGTG	0.572000													11	10					0	0	0.000978	0	0
SCAF4	57466	broad.mit.edu	37	21	33068918	33068918	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:33068918G>A	ENST00000286835.7	-	8	1305	c.923C>T	c.(922-924)cCc>cTc	p.P308L	SCAF4_ENST00000434667.3_Missense_Mutation_p.P293L|SCAF4_ENST00000399804.1_Missense_Mutation_p.P308L	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	308	Poly-Ala.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGCAGCAGCGGGTGCAGCAGC	0.517000													29	3					0	0	0.001786	0	0
ZNF229	7772	broad.mit.edu	37	19	44933774	44933774	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:44933774G>A	ENST00000291187.4	-	6	1486	c.1164C>T	c.(1162-1164)gtC>gtT	p.V388V	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.V394V|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CCCTCTGATGGACAAGCAGGT	0.488000													26	69					0	0	0.005443	0	0
SLC6A15	55117	broad.mit.edu	37	12	85264383	85264383	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:85264383G>A	ENST00000266682.5	-	9	1910	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	SLC6A15_ENST00000309283.7_Missense_Mutation_p.P165S|SLC6A15_ENST00000552192.1_Missense_Mutation_p.P350S	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	457					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GACCAGAAGGGAGATGCAGGA	0.443000													24	52					0	0	0.004656	0	0
MEX3B	84206	broad.mit.edu	37	15	82335724	82335724	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:82335724G>A	ENST00000329713.4	-	2	1922	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	496					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ggagctggacgaagaggagga	0.667000													3	9					0	0	0.004672	0	0
C9orf9	11092	broad.mit.edu	37	9	135763892	135763892	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr9:135763892C>T	ENST00000372136.3	+	4	1010	c.563C>T	c.(562-564)aCc>aTc	p.T188I	C9orf9_ENST00000356311.5_Missense_Mutation_p.T188I|C9orf9_ENST00000350499.6_Intron			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	188								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GCCATAGGGACCCAGCCCAGG	0.622000													4	1					0	0	0.000248	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98848882	98848882	+	RNA	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:98848882C>T	ENST00000554295.1	-	0	2041					NR_033801.1																						ATCAGAGTTTCCCTCTCTCAG	0.552000													3	15					0	0	0.004672	0	0
BGN	633	broad.mit.edu	37	X	152773842	152773842	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:152773842C>T	ENST00000331595.4	+	8	1232	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.P288L	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	349						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTGCAGCCGGCCACTTTC	0.622000													5	45					0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13766162	13766162	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:13766162C>T	ENST00000265104.4	-	59	10128	c.10024G>A	c.(10024-10026)Gaa>Aaa	p.E3342K	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3342	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGCTTTTTTCCAGGTCAATT	0.488000									Kartagener syndrome				35	110					0	0	0.002445	0	0
ITGAL	3683	broad.mit.edu	37	16	30516614	30516614	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr16:30516614C>T	ENST00000356798.6	+	19	2465	c.2285C>T	c.(2284-2286)aCc>aTc	p.T762I	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.T678I	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	762					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CACTCGGAAACCTGGGAGGTA	0.577000													11	18					0	0	0.008291	0	0
SLC47A1	55244	broad.mit.edu	37	17	19445735	19445735	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:19445735C>T	ENST00000270570.4	+	2	251	c.165C>T	c.(163-165)atC>atT	p.I55I	SLC47A1_ENST00000575023.1_Silent_p.I55I|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000395585.1_Silent_p.I55I|SLC47A1_ENST00000457293.1_Silent_p.I55I|SLC47A1_ENST00000542886.1_Silent_p.I55I|SLC47A1_ENST00000436810.2_Silent_p.I55I|SLC47A1_ENST00000584348.1_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	55						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TGTTCCTGATCAGCTTCATAA	0.582000													21	41					0	0	0.004656	0	0
NPTN	27020	broad.mit.edu	37	15	73889624	73889624	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:73889624G>A	ENST00000345330.4	-	2	375	c.178C>T	c.(178-180)Cca>Tca	p.P60S	NPTN_ENST00000564551.1_Intron|NPTN_ENST00000545878.1_Missense_Mutation_p.P60S|NPTN_ENST00000287226.8_Missense_Mutation_p.P60S|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000351217.6_Intron|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000563691.1_Missense_Mutation_p.P60S	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	60	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGGATCTCTGGCGTGGGGCTC	0.602000													15	20					0	0	0.004007	0	0
GPRC5D	55507	broad.mit.edu	37	12	13103121	13103121	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:13103121G>A	ENST00000228887.1	-	1	197	c.198C>T	c.(196-198)ttC>ttT	p.F66F	RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.F66F|RP11-392P7.6_ENST00000536029.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	66						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CACTCAGGAGGAAGAGGAGCT	0.522000													13	35					0	0	0.001855	0	0
KNTC1	9735	broad.mit.edu	37	12	123087421	123087421	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:123087421C>T	ENST00000333479.7	+	47	5048	c.4871C>T	c.(4870-4872)tCg>tTg	p.S1624L	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.S49L|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1624					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTCTTAATTTCGAAATTAATG	0.333000													10	80					0	0	0.008291	0	0
COL1A2	1278	broad.mit.edu	37	7	94059623	94059623	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:94059623C>T	ENST00000297268.6	+	52	4490	c.4019C>T	c.(4018-4020)cCc>cTc	p.P1340L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1340	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCACGCCTGCCCTTCCTTGAT	0.378000										HNSCC(75;0.22)			25	128					0	0	0.004656	0	0
FGD2	221472	broad.mit.edu	37	6	36983600	36983600	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:36983600C>T	ENST00000274963.8	+	9	1257	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	362	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCGCCCAGTTCCAGGTGAGGA	0.612000													3	10					0	0	0.004672	0	0
STX5	6811	broad.mit.edu	37	11	62593012	62593012	+	Splice_Site	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:62593012C>T	ENST00000294179.3	-	6	577		c.e6-1		STX5_ENST00000541317.1_Splice_Site|STX5_ENST00000377897.4_Splice_Site|STX5_ENST00000394690.1_Splice_Site	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5						intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TATTGATGTCCTGGTAAAAGA	0.502000													14	27					0	0	0.003163	0	0
MYO1F	4542	broad.mit.edu	37	19	8595349	8595349	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:8595349C>T	ENST00000338257.8	-	20	2419	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	718	IQ.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCACCTTCCTCCCGCATCTCC	0.652000													72	170					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104071278	104071278	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr12:104071278G>A	ENST00000388887.2	+	25	2898	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	898	EGF-like 8.				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			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						GCGTGTGTCAGCAGGGTTGGA	0.562000													35	73					0	0	0.004289	0	0
CKMT2	1160	broad.mit.edu	37	5	80548642	80548642	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:80548642G>A	ENST00000424301.2	+	4	519	c.281G>A	c.(280-282)gGa>gAa	p.G94E	CTC-281B15.1_ENST00000502041.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.G94E|CKMT2_ENST00000437669.1_Missense_Mutation_p.G94E|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	94	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ATCCAGACTGGAGTGGACAAC	0.567000													38	24					0	0	0.004878	0	0
KCNN2	3781	broad.mit.edu	37	5	113740269	113740269	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:113740269C>T	ENST00000512097.3	+	4	1735	c.717C>T	c.(715-717)gcC>gcT	p.A239A	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Silent_p.A239A			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	239						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CATGGACGGCCCGGCTTGCCT	0.433000													40	105					0	0	0.003610	0	0
EPB41L1	2036	broad.mit.edu	37	20	34802335	34802335	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr20:34802335C>T	ENST00000338074.2	+	17	2402	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	EPB41L1_ENST00000373946.3_Silent_p.I567I|EPB41L1_ENST00000373950.2_Silent_p.I638I|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373941.1_Silent_p.I746I|EPB41L1_ENST00000441639.1_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	747	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCCCTCCATCACCACGGAGA	0.572000													7	11					0	0	0.003080	0	0
TRIM42	287015	broad.mit.edu	37	3	140401671	140401671	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr3:140401671C>T	ENST00000286349.3	+	2	900	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	237						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGGGCCCATCCTCTGCCAGGT	0.627000													11	23					0	0	0.004007	0	0
OR51A4	401666	broad.mit.edu	37	11	4967853	4967853	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:4967853G>A	ENST00000380373.2	-	1	503	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGGAAGGGAAGAACCAGG	0.438000													41	145					0	0	0.008740	0	0
OR6A2	8590	broad.mit.edu	37	11	6816938	6816938	+	Translation_Start_Site	SNP	A	A	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:6816938A>T	ENST00000332601.3	-	1	190	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCGCCACTCCATGTCATTGGT	0.498000													11	16					0	0	0.001368	0	0
NDNL2	56160	broad.mit.edu	37	15	29561137	29561137	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:29561137G>A	ENST00000332303.4	-	1	896	c.773C>T	c.(772-774)aCc>aTc	p.T258I	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	258	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CATCTTGCTGGTTTCCAGGTT	0.552000													42	68					0	0	0.003214	0	0
THSD4	79875	broad.mit.edu	37	15	71447214	71447214	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:71447214C>T	ENST00000355327.3	+	3	176	c.42C>T	c.(40-42)ttC>ttT	p.F14F	THSD4_ENST00000261862.6_Silent_p.F14F|RP11-673C5.2_ENST00000561571.1_RNA			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	14						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCTGTGTTTCCTTCTGCTGC	0.542000													21	64					0	0	0.001523	0	0
OR10G9	219870	broad.mit.edu	37	11	123894487	123894487	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:123894487C>T	ENST00000375024.1	+	1	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CCTGTGTTTTCATTTACCTGA	0.542000													46	6					0	0	0.003610	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460027	113460027	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:113460027G>A	ENST00000538576.1	-	4	1832	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SLC16A1_ENST00000433570.4_Missense_Mutation_p.A334V|SLC16A1_ENST00000369626.3_Missense_Mutation_p.A334V	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	334					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AACGGAAGCCGCAAAGAAATA	0.443000													9	10					0	0	0.008291	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122508	17122508	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:17122508C>T	ENST00000443236.1	-	4	499	c.468G>A	c.(466-468)gcG>gcA	p.A156A	CPAMD8_ENST00000388925.4_Silent_p.A109A|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	109						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCCCTCCTCCGCCTGCCAGC	0.647000													24	37					0	0	0.002299	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378861	92378861	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr8:92378861G>A	ENST00000276609.3	+	14	1781	c.1542G>A	c.(1540-1542)ctG>ctA	p.L514L	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Silent_p.L514L|SLC26A7_ENST00000309536.2_Silent_p.L514L	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	514	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGTTTTCCTGAATGCAAAAA	0.338000													12	24					0	0	0.000978	0	0
LCE5A	254910	broad.mit.edu	37	1	152484047	152484047	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:152484047C>T	ENST00000334269.2	+	2	213	c.37C>T	c.(37-39)Cct>Tct	p.P13S		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	13	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCAGCCTCCTCCCAAATG	0.537000													13	23					0	0	0.004007	0	0
ZNF534	147658	broad.mit.edu	37	19	52941587	52941587	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:52941587C>T	ENST00000332323.6	+	4	974	c.913C>T	c.(913-915)Cat>Tat	p.H305Y	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H292Y|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGAGA	0.393000													9	15					0	0	0.006214	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748439	43748439	+	Silent	SNP	G	G	A	rs150010105	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:43748439G>A	ENST00000263801.3	-	12	2604	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	TP53BP1_ENST00000382039.3_Silent_p.S789S|TP53BP1_ENST00000450115.2_Silent_p.S789S|TP53BP1_ENST00000382044.4_Silent_p.S789S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	784					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCCATGACTGGGAATCTGAGC	0.433000								Other conserved DNA damage response genes					12	57					0	0	0.000978	0	0
RPTN	126638	broad.mit.edu	37	1	152128537	152128537	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:152128537C>T	ENST00000316073.3	-	3	1102	c.1038G>A	c.(1036-1038)atG>atA	p.M346I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	346	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.M346I(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTTTCTGTCCATTTGACCAT	0.493000													342	203					0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94138038	94138038	+	Silent	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:94138038G>A	ENST00000282020.4	+	6	1197	c.939G>A	c.(937-939)aaG>aaA	p.K313K	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.K218K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	313					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTGATCCAAAGGATCCATTTG	0.418000													20	53					0	0	0.001523	0	0
NRIP1	8204	broad.mit.edu	37	21	16339196	16339196	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr21:16339196G>A	ENST00000400202.1	-	3	2030	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	NRIP1_ENST00000318948.4_Missense_Mutation_p.P440S|NRIP1_ENST00000400199.1_Missense_Mutation_p.P440S			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	440	Repression domain 2.|Required for targeting to small nuclear foci.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AAGTCTATGGGAACACAGTTG	0.393000													29	32					0	0	0.007291	0	0
OTOF	9381	broad.mit.edu	37	2	26699809	26699809	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr2:26699809C>T	ENST00000272371.2	-	22	2752	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	OTOF_ENST00000339598.3_Missense_Mutation_p.E129K|OTOF_ENST00000338581.6_Missense_Mutation_p.E129K|OTOF_ENST00000402415.3_Missense_Mutation_p.E186K|OTOF_ENST00000403946.3_Missense_Mutation_p.E876K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	876					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTCCTCCTCCACGATGGAG	0.592000													16	23					0	0	0.004007	0	0
GRIK4	2900	broad.mit.edu	37	11	120702653	120702653	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:120702653C>T	ENST00000527524.2	+	7	891	c.604C>T	c.(604-606)Ccg>Tcg	p.P202S	GRIK4_ENST00000438375.2_Missense_Mutation_p.P202S			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	202					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGACCCCACCCCGCTCCTCAA	0.607000													37	3					0	0	0.004289	0	0
E2F3	1871	broad.mit.edu	37	6	20490632	20490632	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:20490632C>T	ENST00000346618.3	+	7	1435	c.1369C>T	c.(1369-1371)Cca>Tca	p.P457S	E2F3_ENST00000535432.1_Missense_Mutation_p.P326S	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	457	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GGAAAAGCTCCCACTGGTGGA	0.468000													84	244					0	0	0.003610	0	0
MINK1	50488	broad.mit.edu	37	17	4788786	4788786	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:4788786G>A	ENST00000355280.6	+	7	713	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	MINK1_ENST00000347992.7_Missense_Mutation_p.G173R|MINK1_ENST00000453408.3_Missense_Mutation_p.G173R	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	173	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGTGGATTTTGGGGTGAGTGC	0.592000													23	65					0	0	0.003330	0	0
COL4A5	1287	broad.mit.edu	37	X	107911599	107911599	+	Missense_Mutation	SNP	C	C	T	rs104886391		TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chrX:107911599C>T	ENST00000328300.6	+	41	3899	c.3655C>T	c.(3655-3657)Cca>Tca	p.P1219S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1219S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1219	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCTGGCCTTCCAGGTCCAAA	0.512000									Alport syndrome with Diffuse Leiomyomatosis				33	0					0	0	0.003271	0	0
EPB42	2038	broad.mit.edu	37	15	43501592	43501592	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr15:43501592C>T	ENST00000300215.3	-	6	1259	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	EPB42_ENST00000540029.1_Missense_Mutation_p.E160K|EPB42_ENST00000441366.2_Missense_Mutation_p.E238K			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	238					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		AAGGCCCCTTCCTGGGTGGCC	0.637000													44	51					0	0	0.002522	0	0
CROCC	9696	broad.mit.edu	37	1	17274871	17274871	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:17274871C>T	ENST00000375541.5	+	18	2629	c.2560C>T	c.(2560-2562)Cgg>Tgg	p.R854W	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	854					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAGCAGGCCCGGCGGGAGGC	0.711000													4	11					0	0	0.001168	0	0
MRVI1	10335	broad.mit.edu	37	11	10597930	10597930	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr11:10597930C>T	ENST00000547195.1	-	20	2915	c.2415G>A	c.(2413-2415)agG>agA	p.R805R	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Silent_p.R581R|MRVI1_ENST00000552103.1_Silent_p.R805R|MRVI1_ENST00000534266.2_Silent_p.R581R|MRVI1_ENST00000423302.2_Silent_p.R896R|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000421747.1_Silent_p.R887R|MRVI1_ENST00000436272.1_Silent_p.R869R|MRVI1_ENST00000424001.1_Silent_p.R581R|MRVI1_ENST00000527509.2_Silent_p.R805R|MRVI1_ENST00000531107.1_Silent_p.R888R|MRVI1_ENST00000541483.1_Silent_p.R690R|MRVI1_ENST00000545852.1_Silent_p.R581R|MRVI1-AS1_ENST00000529829.1_RNA	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	869	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ACCAGGAGTCCCTCTGGGCTG	0.562000													20	4					0	0	0.001882	0	0
PARP12	64761	broad.mit.edu	37	7	139724543	139724543	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr7:139724543C>A	ENST00000263549.3	-	12	2796	c.1923G>T	c.(1921-1923)gaG>gaT	p.E641D		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	641	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TGCTCCAGCCCTCCTTGGCCG	0.582000													16	61					6.31663e-08	7.2827e-08	0.003163	1	0
RASGEF1C	255426	broad.mit.edu	37	5	179538465	179538465	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr5:179538465C>T	ENST00000393371.2	-	11	1591	c.1295G>A	c.(1294-1296)aGt>aAt	p.S432N	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S281N|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S432N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	432	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-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;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCATCCTCACTGAAGATGGG	0.592000													25	15					0	0	0.004656	0	0
TKTL2	84076	broad.mit.edu	37	4	164394719	164394719	+	Silent	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr4:164394719C>T	ENST00000280605.3	-	1	328	c.168G>A	c.(166-168)acG>acA	p.T56T		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	56						cytoplasm	metal ion binding|transketolase activity	p.T56T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TATACTTCATCGTGTGGAAGA	0.577000													5	16					0	0	0.001984	0	0
HIPK1	204851	broad.mit.edu	37	1	114483892	114483892	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:114483892T>G	ENST00000369558.1	+	2	1119	c.887T>G	c.(886-888)tTg>tGg	p.L296W	HIPK1_ENST00000426820.2_Missense_Mutation_p.L296W|HIPK1_ENST00000369559.4_Missense_Mutation_p.L296W|HIPK1_ENST00000369554.2_Missense_Mutation_p.L296W|HIPK1_ENST00000369555.2_Missense_Mutation_p.L296W|HIPK1_ENST00000369561.4_Missense_Mutation_p.L296W			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	296	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	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)		AGACCAATCTTGCAGCAGGTG	0.453000													17	30					0	0	0.004990	0	0
ZNF556	80032	broad.mit.edu	37	19	2877596	2877596	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr19:2877596C>T	ENST00000586426.1	+	4	724	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	ZNF556_ENST00000307635.2_Missense_Mutation_p.R214C			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATTTCTTCGTTCCCACTC	0.498000													27	40					0	0	0.007291	0	0
EXO5	64789	broad.mit.edu	37	1	40980327	40980328	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr1:40980327_40980328delAA	ENST00000372703.1	+	2	1185_1186	c.111_112delAA	c.(109-114)tcagfs	p.SK37fs	RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Frame_Shift_Del_p.SK37fs|EXO5_ENST00000296380.4_Frame_Shift_Del_p.SK37fs					exonuclease 5																		CCCAAGAGTCAAAGGCTTTAGT	0.455													15	64	---	---	---	---					
TMEM14B	81853	broad.mit.edu	37	6	10751386	10751404	+	Frame_Shift_Del	DEL	GCAGGGCTGCTCTTCGGCA	GCAGGGCTGCTCTTCGGCA	-	rs17849403	byFrequency	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:10751386_10751404delGCAGGGCTGCTCTTCGGCA	ENST00000467317.1	+	4	216_234	c.121_139delGCAGGGCTGCTCTTCGGCA	c.(121-141)gtfs	p.AGLLFGS41fs	TMEM14B_ENST00000379530.3_Intron|TMEM14B_ENST00000379542.5_Frame_Shift_Del_p.AGLLFGS41fs|TMEM14B_ENST00000475942.1_Frame_Shift_Del_p.AGLLFGS41fs|TMEM14B_ENST00000481240.1_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000461342.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000491103.1_3'UTR			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	41						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GTCCCTGGCTGCAGGGCTGCTCTTCGGCAGTCTAGCCGG	0.543													12	53	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32522327	32522328	+	RNA	INS	-	-	CCCAGTAG	rs144707340	by1000genomes	TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr6:32522327_32522328insCCCAGTAG	ENST00000411500.1	-	0	740					NR_001298.1																						ACAGGGCTACCCCCAGTGACCT	0.510													4	8	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17110650	17110652	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr10:17110650_17110652delAGA	ENST00000377833.4	-	20	2808_2810	c.2743_2745delTCT	c.(2743-2745)del	p.S915del		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	915	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTTTTCAGTAGAAGAACTTTTC	0.365													76	11	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													7	105	---	---	---	---					
POM121L9P	29774	broad.mit.edu	37	22	24656046	24656046	+	RNA	DEL	G	G	-			TCGA-D3-A1Q5-06A-11D-A196-08	TCGA-D3-A1Q5-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04c09376-8756-41d9-bbca-f464170a8cfb	cd4c0e51-04d2-4d6b-9e83-093a61eaa34c	g.chr22:24656046delG	ENST00000414583.2	+	0	1948					NR_003714.1																						AGCTGCTGGTGGGGAGGTCTT	0.637													2	4	---	---	---	---